1 00:00:05,734 --> 00:00:06,802 SO I'M GLEN NUCKOLLS. 2 00:00:06,802 --> 00:00:08,737 I'M THE DESIGNATED FEDERAL 3 00:00:08,737 --> 00:00:10,505 OFFICIAL FOR THE MUSCULAR 4 00:00:10,505 --> 00:00:11,473 DYSTROPHY COORDINATING 5 00:00:11,473 --> 00:00:11,940 COMMITTEE. 6 00:00:11,940 --> 00:00:14,576 AND I'D LIKE TO WELCOME YOU TO 7 00:00:14,576 --> 00:00:17,312 THE 29TH MEETING OF THE MDCC. 8 00:00:17,312 --> 00:00:19,381 SO FIRST WHAT WE'D LIKE TO DO IS 9 00:00:19,381 --> 00:00:21,650 GO AROUND AND DO KIND OF A ROLL 10 00:00:21,650 --> 00:00:24,753 CALL OF MEMBERS, MAKE SURE WHO'S 11 00:00:24,753 --> 00:00:26,121 HERE AND GIVE EVERYBODY AN 12 00:00:26,121 --> 00:00:28,223 OPPORTUNITY TO IDENTIFY 13 00:00:28,223 --> 00:00:30,392 THEMSELVES AND THEIR 14 00:00:30,392 --> 00:00:32,627 AFFILIATION, AND LET US START 15 00:00:32,627 --> 00:00:36,298 WITH OUR CHAIR, DR. BIANCHI. 16 00:00:36,298 --> 00:00:37,799 >> GOOD MORNING, EVERYONE, AND 17 00:00:37,799 --> 00:00:40,502 THANK YOU, DR. NUCKOLLS. 18 00:00:40,502 --> 00:00:41,703 I'D JUST LIKE TO WELCOME 19 00:00:41,703 --> 00:00:41,970 EVERYONE. 20 00:00:41,970 --> 00:00:46,842 I'M THE DIRECTOR OF THE EUNICE 21 00:00:46,842 --> 00:00:47,342 KENNED SHRIVER NATIONAL 22 00:00:47,342 --> 00:00:48,577 INSTITUTE OF CHILD HEALTH AND 23 00:00:48,577 --> 00:00:49,878 HUMAN DEVELOPMENT, AND I'M A 24 00:00:49,878 --> 00:00:51,847 MEDICAL GENETICIST AS WELL, AND 25 00:00:51,847 --> 00:00:55,183 IT'S BEEN MY PRIVILEGE TO SERVE 26 00:00:55,183 --> 00:00:56,685 AS CHAIR OF THIS COMMITTEE FOR 27 00:00:56,685 --> 00:00:59,154 THE LAST FOUR YEARS. 28 00:00:59,154 --> 00:01:00,989 I'LL HAND IT OVER BACK TO YOU, 29 00:01:00,989 --> 00:01:02,224 GLEN. 30 00:01:02,224 --> 00:01:03,592 >> THANK YOU. 31 00:01:03,592 --> 00:01:06,194 DR. CRISWELL. 32 00:01:06,194 --> 00:01:07,796 >> GOOD MORNING, EVERYBODY. 33 00:01:07,796 --> 00:01:08,663 I'M LINDSEY CRISWELL. 34 00:01:08,663 --> 00:01:10,799 I'M THE DIRECTOR OF THE NATIONAL 35 00:01:10,799 --> 00:01:13,401 INSTITUTE OF ARTHRITIS AND 36 00:01:13,401 --> 00:01:14,302 MUSCULOSKELETAL AND SKIN 37 00:01:14,302 --> 00:01:15,537 DISEASES, OR NIAMS, AND IT'S 38 00:01:15,537 --> 00:01:17,105 BEEN A PRIVILEGE BEING ON THIS 39 00:01:17,105 --> 00:01:18,506 COMMITTEE FOR THE LAST COUPLE OF 40 00:01:18,506 --> 00:01:21,142 YEARS SINCE I JOINED THE NIH IN 41 00:01:21,142 --> 00:01:25,513 FEBRUARY OF 2021. 42 00:01:25,513 --> 00:01:27,682 >> GUSTAVO. 43 00:01:27,682 --> 00:01:30,418 >> GOOD MORNING, EVERYONE. 44 00:01:30,418 --> 00:01:30,986 I'M GUSTAVO DZIEWCZAPOLSKI. 45 00:01:30,986 --> 00:01:34,556 I'M THE SCIENTIFIC DIRECTOR AT 46 00:01:34,556 --> 00:01:37,592 THE PATIENT AD ADVOCACY ASSOCIAN 47 00:01:37,592 --> 00:01:43,932 CALLED QC & G, IT'S A PLEASURE 48 00:01:43,932 --> 00:01:44,566 TO BE HERE. 49 00:01:44,566 --> 00:01:46,268 I THINK IT'S MY FIFTH YEAR ON 50 00:01:46,268 --> 00:01:46,835 THE COMMITTEE. 51 00:01:46,835 --> 00:01:48,970 THANK YOU. 52 00:01:48,970 --> 00:01:52,340 >> THANKS. 53 00:01:52,340 --> 00:01:53,174 EMILY FRELLICH. 54 00:01:53,174 --> 00:01:54,209 >> GOOD MORNING. 55 00:01:54,209 --> 00:01:57,312 I'M DR. EMILY FREILICH, DIRECTOR 56 00:01:57,312 --> 00:01:59,547 OF THE DIVISION OF NEUROLOGY ONE 57 00:01:59,547 --> 00:02:02,817 IN CEDAR AT FDA. 58 00:02:02,817 --> 00:02:04,386 >> THANK YOU. 59 00:02:04,386 --> 00:02:12,327 MICHAEL GOLDSTEIN. 60 00:02:12,327 --> 00:02:13,295 >> I'M HERE. 61 00:02:13,295 --> 00:02:15,530 JUST TAKING ME A MOMENT TO GET 62 00:02:15,530 --> 00:02:15,997 OFF MUTE. 63 00:02:15,997 --> 00:02:17,499 GOOD MORNING, EVERYONE. 64 00:02:17,499 --> 00:02:18,833 MY NAME IS MICHAEL GOLDSTEIN. 65 00:02:18,833 --> 00:02:19,701 I'M EXCITED TO BE HERE. 66 00:02:19,701 --> 00:02:23,071 I AM THE DIRECTOR OF THE OFFICE 67 00:02:23,071 --> 00:02:26,675 OF MEDICAL POLICY AT THE SOCIAL 68 00:02:26,675 --> 00:02:28,410 SECURITY ADMINISTRATION. 69 00:02:28,410 --> 00:02:30,946 WE ADMINISTER OUR DISABILITY 70 00:02:30,946 --> 00:02:32,314 PROGRAM OR PORTIONS OF IT 71 00:02:32,314 --> 00:02:35,984 THROUGH MY OFFICE, INCLUDING 72 00:02:35,984 --> 00:02:37,018 NEUROLOGICAL MEDICAL LISTINGS, 73 00:02:37,018 --> 00:02:38,954 WHICH CONTAIN A NUMBER OF 74 00:02:38,954 --> 00:02:40,422 DYSTROPHIES AND MUSCULAR 75 00:02:40,422 --> 00:02:43,024 DYSTROPHIES ARE ALSO WRINKLES 76 00:02:43,024 --> 00:02:44,793 AND PARTS AND ELEMENTS OF OUR 77 00:02:44,793 --> 00:02:46,428 DISABILITY PROGRAM IN A BROADER 78 00:02:46,428 --> 00:02:46,962 SENSE. 79 00:02:46,962 --> 00:02:48,730 SO VERY EXCITED TO HEAR FROM 80 00:02:48,730 --> 00:02:49,097 EVERYONE TODAY. 81 00:02:49,097 --> 00:02:50,231 THANK YOU. 82 00:02:50,231 --> 00:02:53,401 >> THANK YOU, MICHAEL. 83 00:02:53,401 --> 00:02:53,735 ALISHA KEEHN. 84 00:02:53,735 --> 00:02:55,337 >> GOOD MORNING, EVERYONE. 85 00:02:55,337 --> 00:02:57,072 I'M ALISHA KEEHN, I'M THE BRANCH 86 00:02:57,072 --> 00:02:58,640 CHIEF OF THE GENETICS SERVICES 87 00:02:58,640 --> 00:03:00,608 BRANCH IN THE DIVISION OF 88 00:03:00,608 --> 00:03:01,443 CHILDREN WITH SPECIAL HEALTH 89 00:03:01,443 --> 00:03:02,410 NEEDS AT THE HEALTH RESOURCES 90 00:03:02,410 --> 00:03:04,646 AND SERVICES ADMINISTRATION. 91 00:03:04,646 --> 00:03:06,014 I'VE BEEN FORTUNATE TO BE ON 92 00:03:06,014 --> 00:03:07,415 THIS COMMITTEE FOR THE LAST FEW 93 00:03:07,415 --> 00:03:07,949 YEARS. 94 00:03:07,949 --> 00:03:09,117 IN OUR BRANCH, ONE OF THE KEY 95 00:03:09,117 --> 00:03:11,753 THINGS THAT WE DO IS WE SUPPORT 96 00:03:11,753 --> 00:03:13,455 THE ADVISORY COMMITTEE ON 97 00:03:13,455 --> 00:03:15,023 HERITABLE DISORDERS IN NEWBORNS 98 00:03:15,023 --> 00:03:16,157 AND CHILDREN, WHICH MAKES 99 00:03:16,157 --> 00:03:17,292 RECOMMENDATIONS TO THE SECRETARY 100 00:03:17,292 --> 00:03:20,061 OF HHS FOR RECOMMENDING 101 00:03:20,061 --> 00:03:22,063 CONDITIONS TO THE UNIFORM 102 00:03:22,063 --> 00:03:24,132 NEWBORN SCREENING PANEL. 103 00:03:24,132 --> 00:03:25,734 SO I'M ALWAYS VERY INTERESTED IN 104 00:03:25,734 --> 00:03:27,702 THE DISCUSSIONS WE HAVE IN THIS 105 00:03:27,702 --> 00:03:29,004 COMMITTEE AND LOOK FORWARD TO 106 00:03:29,004 --> 00:03:30,372 OUR CONVERSATION TODAY. 107 00:03:30,372 --> 00:03:31,873 >> THANK YOU. 108 00:03:31,873 --> 00:03:35,043 SO OUR MEMBER FROM NHLBI, JIM 109 00:03:35,043 --> 00:03:36,311 KILEY, IS NOT ABLE TO JOIN 110 00:03:36,311 --> 00:03:42,584 TODAY, BUT IN HIS PLACE, WE HAVE 111 00:03:42,584 --> 00:03:47,155 SAMITA KATRI. 112 00:03:47,155 --> 00:03:50,158 >> I'M ACTUALLY FILLING IN FOR 113 00:03:50,158 --> 00:03:51,693 DR. NATARAJAN WHO WAS FILLING IN 114 00:03:51,693 --> 00:03:54,295 FOR JIM KILEY. 115 00:03:54,295 --> 00:03:58,500 I AM THE CMRO, NEW POSITION IN 116 00:03:58,500 --> 00:04:00,468 THE DIVISION OF LUNG DISEASE. 117 00:04:00,468 --> 00:04:01,302 I'M A PULMONOLOGIST AND I'M 118 00:04:01,302 --> 00:04:02,337 VERY, VERY HAPPY TO BE HERE 119 00:04:02,337 --> 00:04:03,338 BECAUSE I'M INTERESTED IN THIS 120 00:04:03,338 --> 00:04:04,439 TOPIC AND WANT TO MOVE IT 121 00:04:04,439 --> 00:04:05,974 FORWARD. 122 00:04:05,974 --> 00:04:07,976 >> THANK YOU. 123 00:04:07,976 --> 00:04:08,810 WALTER? 124 00:04:08,810 --> 00:04:09,911 >> WALTER KOROSHETZ. 125 00:04:09,911 --> 00:04:12,013 I'M THE DIRECTOR FOR THE 126 00:04:12,013 --> 00:04:13,448 NEUROLOGIC INSTITUTE WHERE I'M 127 00:04:13,448 --> 00:04:17,118 HAPPY TO WORK WITH GLEN AND A 128 00:04:17,118 --> 00:04:17,786 NUMBER OF OTHER PEOPLE HERE. 129 00:04:17,786 --> 00:04:21,356 >> SO I KNOW THAT OUR MEMBER 130 00:04:21,356 --> 00:04:24,225 FROM THE DEPARTMENT OF DEFENSE, 131 00:04:24,225 --> 00:04:25,627 CDMRP, MARIA McGUIRE, IS NOT 132 00:04:25,627 --> 00:04:28,863 ABLE TO JOIN US TODAY. 133 00:04:28,863 --> 00:04:30,965 DENISE MYLAR? 134 00:04:30,965 --> 00:04:32,200 >> HI. 135 00:04:32,200 --> 00:04:36,805 I'M DENISE MYLER FROM IDAHO. 136 00:04:36,805 --> 00:04:38,973 >> THANK YOU. 137 00:04:38,973 --> 00:04:41,209 IS DAN PEREZ -- HAS DAN JOINED 138 00:04:41,209 --> 00:04:46,114 US TODAY? 139 00:04:46,114 --> 00:04:47,282 DAN LET ME KNOW THAT THERE WAS A 140 00:04:47,282 --> 00:04:48,817 MEDICAL EMERGENCY IN HIS FAMILY, 141 00:04:48,817 --> 00:04:51,853 AND HE MAY BE TIED UP WITH THAT 142 00:04:51,853 --> 00:04:52,854 TODAY. 143 00:04:52,854 --> 00:04:56,858 WE WISH THEM THE BEST. 144 00:04:56,858 --> 00:04:59,894 NATALIE STREET? 145 00:04:59,894 --> 00:05:00,628 >> HI. 146 00:05:00,628 --> 00:05:01,896 MY NAME IS NATALIE STREET. 147 00:05:01,896 --> 00:05:03,398 I'M A HEALTH SCIENTIST ON THE 148 00:05:03,398 --> 00:05:05,400 RARE DISORDERS AND HEALTH 149 00:05:05,400 --> 00:05:06,968 OUTCOMES TEAM THAT HOUSES ALL 150 00:05:06,968 --> 00:05:08,069 THE MUSCULAR DYSTROPHY 151 00:05:08,069 --> 00:05:09,370 ACTIVITIES AT THE CENTERS FOR 152 00:05:09,370 --> 00:05:12,373 DISEASE CONTROL AND PREVENTION. 153 00:05:12,373 --> 00:05:15,210 >> AND ERIC WANG. 154 00:05:15,210 --> 00:05:16,044 >> HI. 155 00:05:16,044 --> 00:05:17,645 MY NAME IS ERIC WANG. 156 00:05:17,645 --> 00:05:19,114 I'M ASSOCIATE PROFESSOR, 157 00:05:19,114 --> 00:05:20,281 UNIVERSITY OF FLORIDA. 158 00:05:20,281 --> 00:05:22,684 MY LAB STUDIES MYOTONIC 159 00:05:22,684 --> 00:05:24,085 DYSTROPHY, AND I'M VERY ACTIVE 160 00:05:24,085 --> 00:05:25,787 WITH THE MYOTONIC DYSTROPHY 161 00:05:25,787 --> 00:05:26,988 FOUNDATION AS WELL. 162 00:05:26,988 --> 00:05:29,290 >> AND WE HAVE A NUMBER OF OTHER 163 00:05:29,290 --> 00:05:30,291 PEOPLE HERE IN THE ROOM WITH US. 164 00:05:30,291 --> 00:05:31,559 I'D LIKE TO JUST KIND OF GO 165 00:05:31,559 --> 00:05:32,861 AROUND AND ASK YOU TO INTRODUCE 166 00:05:32,861 --> 00:05:33,595 YOURSELF QUICKLY. 167 00:05:33,595 --> 00:05:36,464 WE'LL KIND OF START AT THIS 168 00:05:36,464 --> 00:05:38,366 CORNER. 169 00:05:38,366 --> 00:05:38,733 PAUL? 170 00:05:38,733 --> 00:05:39,834 >> GOOD MORNING, EVERYBODY. 171 00:05:39,834 --> 00:05:42,170 I'M PAUL MILMEIR, VICE PRESIDENT 172 00:05:42,170 --> 00:05:44,172 OF PUBLIC POLICY AND ADVOCACY AT 173 00:05:44,172 --> 00:05:44,706 THE MUSCULAR DYSTROPHY 174 00:05:44,706 --> 00:05:46,808 ASSOCIATION. 175 00:05:46,808 --> 00:05:50,178 >> I'M EMILY, PROGRAM DIRECTOR 176 00:05:50,178 --> 00:05:51,980 FOR MUSCLE DISEASES AND 177 00:05:51,980 --> 00:05:53,681 THERAPEUTICS AT THE NIAMS. 178 00:05:53,681 --> 00:05:55,984 >> GOOD MORNING, EVERYONE. 179 00:05:55,984 --> 00:05:57,852 THIS IS RAMONA, EXECUTIVE 180 00:05:57,852 --> 00:05:59,287 DIRECTOR OF THE DUCHENNE 181 00:05:59,287 --> 00:06:00,788 REGULATORY SCIENCE CONSORTIUM 182 00:06:00,788 --> 00:06:06,394 AND CRITICAL PATH INSTITUTE. 183 00:06:06,394 --> 00:06:09,397 >> GOOD MORNING. 184 00:06:09,397 --> 00:06:11,332 I'M FROM THE NATIONAL INSTITUTE 185 00:06:11,332 --> 00:06:12,734 ON INDEPENDENT LIVING DISABILITY 186 00:06:12,734 --> 00:06:15,570 AND REHABILITATION RESEARCH 187 00:06:15,570 --> 00:06:16,104 WITHIN ADMINISTRATION FOR 188 00:06:16,104 --> 00:06:18,873 COMMUNITY LIVING. 189 00:06:18,873 --> 00:06:20,608 >> GOOD MORNING, CAROL 190 00:06:20,608 --> 00:06:21,042 TAYLOR-BURDS. 191 00:06:21,042 --> 00:06:22,777 I'M AT THE NATIONAL INSTITUTE OF 192 00:06:22,777 --> 00:06:24,078 NEUROLOGICAL DISORDERS AND 193 00:06:24,078 --> 00:06:25,580 STROKE AND DIVISION OF 194 00:06:25,580 --> 00:06:28,750 TRANSLATIONAL RESEARCH. 195 00:06:28,750 --> 00:06:29,284 >> GREAT. 196 00:06:29,284 --> 00:06:30,451 I THINK WE HAVE A NUMBER OF 197 00:06:30,451 --> 00:06:33,821 OTHER PEOPLE ON SOO ZOOM. 198 00:06:33,821 --> 00:06:35,356 ALL OF OUR PRESENTERS FOR TODAY 199 00:06:35,356 --> 00:06:37,091 WILL HAVE AN OPPORTUNITY TO 200 00:06:37,091 --> 00:06:39,427 INTRODUCE YOU LATER ON. 201 00:06:39,427 --> 00:06:40,662 IN THE INTEREST OF TIME, I THINK 202 00:06:40,662 --> 00:06:44,332 WE'LL GO AHEAD AND GET STARTED. 203 00:06:44,332 --> 00:06:46,868 SO THIS MEETING IS BEING 204 00:06:46,868 --> 00:06:48,036 CONDUCTED IN COMPLIANCE WITH THE 205 00:06:48,036 --> 00:06:49,737 FEDERAL ADVISORY COMMITTEE ACT 206 00:06:49,737 --> 00:06:52,373 TO ENSURE THAT THE COMMITTEE 207 00:06:52,373 --> 00:06:54,576 PROVIDES EXPERT ADVICE AND 208 00:06:54,576 --> 00:06:56,811 DIVERSE OPINIONS TO INFORM 209 00:06:56,811 --> 00:06:58,613 DECISION-MAKING BY OFFICIALS AND 210 00:06:58,613 --> 00:07:00,448 AGENCIES IN THE EXECUTIVE BRANCH 211 00:07:00,448 --> 00:07:03,484 OF THE FEDERAL GOVERNMENT IN A 212 00:07:03,484 --> 00:07:04,352 MANNER THAT'S TRANSPARENT AND 213 00:07:04,352 --> 00:07:05,753 FREE OF CONFLICTS. 214 00:07:05,753 --> 00:07:07,922 THERE WILL BE NO CLOSED SESSION 215 00:07:07,922 --> 00:07:09,857 PLANNED FOR TODAY'S MEETING. 216 00:07:09,857 --> 00:07:13,161 WE DON'T ANTICIPATE DISCUSSIONS 217 00:07:13,161 --> 00:07:14,862 OR ACTIONS SPECIFIC TO 218 00:07:14,862 --> 00:07:15,597 ORGANIZATIONS OR FINANCIAL 219 00:07:15,597 --> 00:07:17,031 INTERESTS OF OUR MEMBERS, SO 220 00:07:17,031 --> 00:07:19,534 THERE'S NO NEED FOR ANY RECUSALS 221 00:07:19,534 --> 00:07:21,836 TODAY. 222 00:07:21,836 --> 00:07:23,938 SO WE POSTED A NOTICE IN THE 223 00:07:23,938 --> 00:07:25,006 FEDERAL REGISTER ABOUT THIS 224 00:07:25,006 --> 00:07:26,174 MEETING, INVITING PUBLIC 225 00:07:26,174 --> 00:07:26,474 COMMENT. 226 00:07:26,474 --> 00:07:28,543 WE DID NOT RECEIVE ANY REQUEST 227 00:07:28,543 --> 00:07:29,611 FROM THE PUBLIC TO MAKE A 228 00:07:29,611 --> 00:07:31,312 COMMENT TO THE COMMITTEE, SO 229 00:07:31,312 --> 00:07:32,247 WE'VE NOT SCHEDULED THAT FOR 230 00:07:32,247 --> 00:07:34,249 THIS MEETING. 231 00:07:34,249 --> 00:07:36,417 THIS MEETING IS BEING STREAMED 232 00:07:36,417 --> 00:07:38,586 LIVE FOR PUBLIC VIEWING, AND 233 00:07:38,586 --> 00:07:40,355 IT'S ALSO BEING RECORDED. 234 00:07:40,355 --> 00:07:42,824 THE STREAM AND THE RECORDING ARE 235 00:07:42,824 --> 00:07:46,661 AVAILABLE AT VIDEOCAST.NIH.GOV, 236 00:07:46,661 --> 00:07:48,396 AND WE ALSO PROVIDE A LINK ON 237 00:07:48,396 --> 00:07:53,868 OUR WEBSITE, WHICH IS 238 00:07:53,868 --> 00:07:54,936 MDCC.NIH.GOV. 239 00:07:54,936 --> 00:07:56,638 SO FOR THOSE COMMITTEE MEMBERS 240 00:07:56,638 --> 00:07:57,905 AND OTHER DESIGNATED PANELISTS 241 00:07:57,905 --> 00:07:59,307 THAT ARE CONNECTING THROUGH 242 00:07:59,307 --> 00:08:01,376 ZOOM, YOU CAN EITHER RAISE YOUR 243 00:08:01,376 --> 00:08:06,381 DIGITAL HAPPENED HAND OR UNMUTEE 244 00:08:06,381 --> 00:08:07,282 QUESTIONS AND ADD COMMENTS TO 245 00:08:07,282 --> 00:08:07,815 OUR MEETING. 246 00:08:07,815 --> 00:08:09,117 IF YOU'RE NOT A COMMITTEE MEMBER 247 00:08:09,117 --> 00:08:10,985 AND YOU'RE DESIGNATED AS A -- 248 00:08:10,985 --> 00:08:12,620 YOU'RE NOT DESIGNATED AS A 249 00:08:12,620 --> 00:08:13,821 PANELIST, YOU WILL BE ABLE TO 250 00:08:13,821 --> 00:08:17,859 SUBMIT QUESTIONS VIA THE CHAT 251 00:08:17,859 --> 00:08:18,960 FEATURE THROUGHOUT TODAY'S 252 00:08:18,960 --> 00:08:20,094 MEETING AND WE'LL READ THOSE OUT 253 00:08:20,094 --> 00:08:20,561 FOR YOU. 254 00:08:20,561 --> 00:08:21,996 SO I'D LIKE TO THANK SOME OF THE 255 00:08:21,996 --> 00:08:24,098 NIH AND CONTRACTOR STAFF WHO 256 00:08:24,098 --> 00:08:25,500 HAVE REALLY HELPED PREPARE FOR 257 00:08:25,500 --> 00:08:28,670 THIS MEETING, INCLUDING MARIE 258 00:08:28,670 --> 00:08:32,073 PIERRE, DERRICK SMITH, SOSHA 259 00:08:32,073 --> 00:08:35,576 MORRIS, TOY YA RODGERS, EMILY, 260 00:08:35,576 --> 00:08:38,346 WAI CHEN LEE, KATHLEEN 261 00:08:38,346 --> 00:08:41,015 HUNTZINGER, AND ALSO GINA 262 00:08:41,015 --> 00:08:41,282 WILLIAMS. 263 00:08:41,282 --> 00:08:42,684 AND I'D LIKE TO TAKE THIS 264 00:08:42,684 --> 00:08:46,287 OPPORTUNITY TO ESPECIALLY THANK 265 00:08:46,287 --> 00:08:48,923 DR. BIANCHI FOR HER LEADERSHIP 266 00:08:48,923 --> 00:08:50,625 AND CHAIR, AS CHAIR OF THE MDCC. 267 00:08:50,625 --> 00:08:52,660 SO THIS IS THE LAST MEETING 268 00:08:52,660 --> 00:08:55,163 DURING HER CURRENT TERM AS 269 00:08:55,163 --> 00:08:56,364 CHAIR, AND I'D REALLY LIKE TO 270 00:08:56,364 --> 00:08:58,266 EXPRESS MY APPRECIATION FOR THE 271 00:08:58,266 --> 00:09:00,401 HONOR OF WORKING WITH YOU ON 272 00:09:00,401 --> 00:09:00,835 THIS COMMITTEE. 273 00:09:00,835 --> 00:09:02,670 SO WE'VE COVERED, I THINK, SOME 274 00:09:02,670 --> 00:09:04,906 REALLY IMPORTANT TOPICS DURING 275 00:09:04,906 --> 00:09:06,908 DR. BIANCHI'S TERM AS CHAIR 276 00:09:06,908 --> 00:09:08,843 SINCE 2020, INCLUDING 277 00:09:08,843 --> 00:09:09,744 PATIENT-REPORTED OUT COME 278 00:09:09,744 --> 00:09:11,779 MEASURES, NEWBORN SCREENING, 279 00:09:11,779 --> 00:09:13,614 RESPIRATORY AND SLEEP 280 00:09:13,614 --> 00:09:15,249 COMPLICATIONS, STRATEGIES TO 281 00:09:15,249 --> 00:09:17,852 INCREASE DIVERSITY IN RESEARCH 282 00:09:17,852 --> 00:09:23,224 STUDIES, DRUG R REPURPOSING, 283 00:09:23,224 --> 00:09:23,925 STRATEGIC PLANNING. 284 00:09:23,925 --> 00:09:24,959 FOR TODAY'S MEETING, WE'LL BE 285 00:09:24,959 --> 00:09:25,927 TALKING ABOUT REGULATORY 286 00:09:25,927 --> 00:09:26,427 APPROVALS. 287 00:09:26,427 --> 00:09:29,097 SO WE REALLY APPRECIATE YOUR 288 00:09:29,097 --> 00:09:31,733 DEDICATION TO THIS COMMITTEE AND 289 00:09:31,733 --> 00:09:32,734 NICHD'S SUPPORT FOR THE MUSCULAR 290 00:09:32,734 --> 00:09:33,835 DYSTROPHIES. 291 00:09:33,835 --> 00:09:36,204 AND I'M EXCITED TO ANNOUNCE THAT 292 00:09:36,204 --> 00:09:37,271 DR. LINDSEY CRISWELL, THE 293 00:09:37,271 --> 00:09:41,042 DIRECTOR OF THE NATIONAL 294 00:09:41,042 --> 00:09:43,044 ARTHRITIS -- SKIN DISEASES WILL 295 00:09:43,044 --> 00:09:44,278 BE THE NEXT CHAIR FOR THE MDCC, 296 00:09:44,278 --> 00:09:45,947 AND I REALLY LOOK FORWARD TO 297 00:09:45,947 --> 00:09:51,419 WORKING WITH HER DURING THE MDCC 298 00:09:51,419 --> 00:09:52,553 ACTION PLAN AND OTHER TOPICS FOR 299 00:09:52,553 --> 00:09:53,821 THIS COMMITTEE. 300 00:09:53,821 --> 00:09:55,123 UNLESS THERE ARE OTHER QUESTIONS 301 00:09:55,123 --> 00:09:56,858 OR COMMENTS, I'LL TURN IT OVER 302 00:09:56,858 --> 00:09:59,060 TO DR. BIANCHI FOR YOUR CHAIR 303 00:09:59,060 --> 00:10:00,128 PRESENTATION. 304 00:10:00,128 --> 00:10:02,630 >> THANK YOU SO MUCH, 305 00:10:02,630 --> 00:10:03,464 DR. NUCKOLLS, AND ESPECIALLY 306 00:10:03,464 --> 00:10:06,200 THANK YOU FOR YOUR KIND COMMENTS 307 00:10:06,200 --> 00:10:08,503 AND YOUR IMMENSE SUPPORT OF THIS 308 00:10:08,503 --> 00:10:08,936 COMMITTEE. 309 00:10:08,936 --> 00:10:14,041 I'VE LEARNED SO MUCH FROM YOU, 310 00:10:14,041 --> 00:10:15,510 AND IT'S BEEN A TRUE PLEASURE 311 00:10:15,510 --> 00:10:16,210 WORKING WITH YOU. 312 00:10:16,210 --> 00:10:17,912 I WILL STILL SERVE ON THE 313 00:10:17,912 --> 00:10:18,913 COMMITTEE AND I LOOK FORWARD TO 314 00:10:18,913 --> 00:10:20,982 HANDING THE BATON OVER TO MY 315 00:10:20,982 --> 00:10:22,150 GOOD COLLEAGUE DR. CRISWELL. 316 00:10:22,150 --> 00:10:23,518 SO WITH THAT, THANK YOU FOR 317 00:10:23,518 --> 00:10:24,252 BRINGING UP THE SLIDES. 318 00:10:24,252 --> 00:10:27,088 MAY I HAVE THE NEXT ONE, PLEASE? 319 00:10:27,088 --> 00:10:29,490 SO TODAY BRIEFLY I'M GOING TO BE 320 00:10:29,490 --> 00:10:30,525 TALKING -- JUST GIVE YOU A 321 00:10:30,525 --> 00:10:30,992 LITTLE INTRODUCTION. 322 00:10:30,992 --> 00:10:34,529 WE HAVE A NEW NIH DIRECTOR IN 323 00:10:34,529 --> 00:10:35,463 TOWN. 324 00:10:35,463 --> 00:10:37,665 I'LL SAY VERY BRIEFLY WHAT WE 325 00:10:37,665 --> 00:10:40,468 KNOW ABOUT FISCAL YEAR 24 326 00:10:40,468 --> 00:10:40,902 APPROPRIATIONS. 327 00:10:40,902 --> 00:10:42,637 AND THEN I THOUGHT IT WOULD BE 328 00:10:42,637 --> 00:10:44,939 IMPORTANT TO JUST GIVE AN UPDATE 329 00:10:44,939 --> 00:10:46,741 ON THE ADVISORY COMMITTEE TO THE 330 00:10:46,741 --> 00:10:49,310 NIH DIRECTOR'S WORKING GROUP ON 331 00:10:49,310 --> 00:10:51,245 DIVERSITY SUBGROUP ON 332 00:10:51,245 --> 00:10:53,314 INDIVIDUALS WITH DISABILITIES, 333 00:10:53,314 --> 00:10:56,350 AND THEN SOME SELECTED ADVANCES 334 00:10:56,350 --> 00:10:58,419 IN MUSCULAR DYSTROPHY RESEARCH. 335 00:10:58,419 --> 00:11:02,423 NEXT SLIDE, PLEASE. 336 00:11:02,423 --> 00:11:07,128 SO AS OF NOVEMBER 9TH, WE HAVE A 337 00:11:07,128 --> 00:11:08,830 NEW PERMANENT NIH DIRECTOR. 338 00:11:08,830 --> 00:11:11,399 THIS IS DR. MONICA BERTAGNOLLI, 339 00:11:11,399 --> 00:11:14,802 WHO'S THE 17TH DIRECTOR OF NIH, 340 00:11:14,802 --> 00:11:17,672 AND ONLY THE SECOND FEMALE 341 00:11:17,672 --> 00:11:18,339 DIRECTOR. 342 00:11:18,339 --> 00:11:20,174 SHE'S BEEN AT THE NIH FOR A 343 00:11:20,174 --> 00:11:21,075 YEAR. 344 00:11:21,075 --> 00:11:24,045 SHE CAME IN OCTOBER OF 2022 TO 345 00:11:24,045 --> 00:11:27,615 BECOME THE DIRECTOR OF THE 346 00:11:27,615 --> 00:11:29,050 NATIONAL CANCER INSTITUTE, AND 347 00:11:29,050 --> 00:11:31,085 AS OF NOVEMBER 9TH, SHE'S NOW 348 00:11:31,085 --> 00:11:33,421 THE OVERALL DIRECTOR OF NIH. 349 00:11:33,421 --> 00:11:37,225 SHE COMES WITH A LONG ACADEMIC 350 00:11:37,225 --> 00:11:39,360 HISTORY AS A SURGEON ONCOLOGIST 351 00:11:39,360 --> 00:11:41,329 AT THE DANA FARBER CANCER 352 00:11:41,329 --> 00:11:43,264 INSTITUTE IN BOSTON. 353 00:11:43,264 --> 00:11:47,869 AND SHE IS HIGHLY ENERGETIC AND 354 00:11:47,869 --> 00:11:50,638 HAS A FOCUS ON CLINICAL TRIAL 355 00:11:50,638 --> 00:11:52,173 RESEARCH, AND I'M SURE WE'RE 356 00:11:52,173 --> 00:11:53,441 GOING TO BE HEARING MORE ABOUT 357 00:11:53,441 --> 00:11:55,710 HER PRIORITIES AS THE WEEKS PASS 358 00:11:55,710 --> 00:12:00,748 BY. 359 00:12:00,748 --> 00:12:02,583 I WISH I COULD TELL YOU MORE 360 00:12:02,583 --> 00:12:04,952 ABOUT FISCAL YEAR 24 NIH 361 00:12:04,952 --> 00:12:05,887 APPROPRIATIONS. 362 00:12:05,887 --> 00:12:09,156 WE ARE ON A CONTINUING 363 00:12:09,156 --> 00:12:11,292 RESOLUTION UNTIL GROUNDHOG DAY. 364 00:12:11,292 --> 00:12:13,761 AND WHAT THAT MEANS IS, WE ARE 365 00:12:13,761 --> 00:12:16,364 OPERATING ON A BUDGET THAT IS 366 00:12:16,364 --> 00:12:19,934 THE SAME AS FISCAL YEAR 2023'S 367 00:12:19,934 --> 00:12:22,503 BUDGET, BUT IT'S NOT REALLY A 368 00:12:22,503 --> 00:12:23,371 PERMANENT BUDGET. 369 00:12:23,371 --> 00:12:25,339 CONGRESS HAS TO COME UP WITH A 370 00:12:25,339 --> 00:12:27,842 PERMANENT APPROPRIATION. 371 00:12:27,842 --> 00:12:29,877 THEY COULD KEEP US ON A 372 00:12:29,877 --> 00:12:31,479 CONTINUING RESOLUTION FOR THE 373 00:12:31,479 --> 00:12:32,747 REST OF THE FISCAL YEAR, BUT IT 374 00:12:32,747 --> 00:12:36,717 MAKES IT VERY DIFFICULT FOR US 375 00:12:36,717 --> 00:12:41,289 TO SET PAY LINES TO PAY GRANTS, 376 00:12:41,289 --> 00:12:43,057 TO PLAN TO DECIDE, YOU KNOW, 377 00:12:43,057 --> 00:12:45,126 WHAT ARE OUR PRIORITIES FOR THE 378 00:12:45,126 --> 00:12:47,428 REST OF THE FISCAL YEAR, AND 379 00:12:47,428 --> 00:12:48,563 BEST CASE SCENARIO, WE WILL BE 380 00:12:48,563 --> 00:12:49,797 HALFWAY THROUGH THE FISCAL YEAR 381 00:12:49,797 --> 00:12:54,235 IF WE GET A PERMANENT BUDGET IN, 382 00:12:54,235 --> 00:12:57,605 SAY, FEBRUARY OR MARCH. 383 00:12:57,605 --> 00:12:59,674 SO I WANT TO GIVE A SHOUT OUT TO 384 00:12:59,674 --> 00:13:01,208 ALL OF THE PROGRAM STAFF WHO 385 00:13:01,208 --> 00:13:02,877 HAVE TO DEAL WITH THIS, 386 00:13:02,877 --> 00:13:03,678 ESPECIALLY THE BUDGET PEOPLE. 387 00:13:03,678 --> 00:13:06,280 I DON'T KNOW ABOUT NIAMS AND 388 00:13:06,280 --> 00:13:10,918 NINDS, BUT I KNOW IN NICHD, OUR 389 00:13:10,918 --> 00:13:14,255 FINANCIAL OFFICE MAKES MULTIPLE 390 00:13:14,255 --> 00:13:15,056 CONTINGENCY BUDGETS, AND RIGHT 391 00:13:15,056 --> 00:13:16,557 NOW WE ARE OPERATING UNDER A 392 00:13:16,557 --> 00:13:19,060 VERY CONSERVATIVE PAYLINE 393 00:13:19,060 --> 00:13:20,294 BECAUSE WE CAN'T SPEND MONEY 394 00:13:20,294 --> 00:13:21,395 THAT WE DON'T REALLY KNOW THAT 395 00:13:21,395 --> 00:13:23,030 WE HAVE. 396 00:13:23,030 --> 00:13:25,633 SO HOPEFULLY THINGS WILL RESOLVE 397 00:13:25,633 --> 00:13:27,468 IN THE EARLY SPRING, BUT THAT'S 398 00:13:27,468 --> 00:13:28,836 WHERE WE ARE. 399 00:13:28,836 --> 00:13:30,037 AND IF YOU READ THE NEWSPAPERS, 400 00:13:30,037 --> 00:13:31,305 YOU PROBABLY KNOW JUST AS MUCH 401 00:13:31,305 --> 00:13:39,046 AS WE DO. 402 00:13:39,046 --> 00:13:42,450 SO THE ADVISORY COMMITTEE TO THE 403 00:13:42,450 --> 00:13:44,986 DIRECTOR MEETS LIKE A COUNCIL 404 00:13:44,986 --> 00:13:48,122 FOR THE DIRECTOR OF THE NIH, AND 405 00:13:48,122 --> 00:13:49,790 OFTENTIMES THERE ARE WORKING 406 00:13:49,790 --> 00:13:53,327 GROUPS THAT ARE ESTABLISHED TO 407 00:13:53,327 --> 00:13:55,630 DEAL MORE DEEPLY WITH IMPORTANT 408 00:13:55,630 --> 00:13:56,731 ISSUES. 409 00:13:56,731 --> 00:13:58,432 AND SO THERE WAS A WORKING GROUP 410 00:13:58,432 --> 00:14:04,071 THAT WAS ESTABLISHED AS PART OF 411 00:14:04,071 --> 00:14:06,374 THE DIVERSITY SUBGROUP TO TALK 412 00:14:06,374 --> 00:14:06,874 ABOUT INDIVIDUALS WITH 413 00:14:06,874 --> 00:14:08,042 DISABILITIES. 414 00:14:08,042 --> 00:14:09,610 AND HERE THEY'RE TALKING ABOUT 415 00:14:09,610 --> 00:14:12,480 BOTH PHYSICAL AND INTELLECTUAL 416 00:14:12,480 --> 00:14:12,980 DISABILITIES. 417 00:14:12,980 --> 00:14:14,715 BUT THE REPORT, WHICH HAS BEEN 418 00:14:14,715 --> 00:14:16,851 PUBLISHED AND IS PUBLICLY 419 00:14:16,851 --> 00:14:19,487 AVAILABLE, RECOMMENDED ONE 420 00:14:19,487 --> 00:14:22,823 IMMEDIATE ACTION TO SUPPORT 421 00:14:22,823 --> 00:14:23,391 DISABILITY INCLUSION. 422 00:14:23,391 --> 00:14:25,126 AND THAT WAS TO REMOVE THE 423 00:14:25,126 --> 00:14:27,395 LANGUAGE OF REDUCING DISABILITY 424 00:14:27,395 --> 00:14:33,100 FROM THE NIH MISSION STATEMENT. 425 00:14:33,100 --> 00:14:36,537 EUM GOING TOI'M GOING TO SHOW YE 426 00:14:36,537 --> 00:14:37,405 CURRENT MISSION STATEMENT IN A 427 00:14:37,405 --> 00:14:38,372 MOMENT BUT THE COUNCIL FELT THIS 428 00:14:38,372 --> 00:14:41,909 COULD BE INTERPRETED AS 429 00:14:41,909 --> 00:14:43,544 PERPETUATING ABLEIST BELIEFS 430 00:14:43,544 --> 00:14:44,545 THAT DISABLED PEOPLE ARE FLAWED 431 00:14:44,545 --> 00:14:49,450 AND NEED TO BE FIXED. 432 00:14:49,450 --> 00:14:50,551 SO THE CURRENT MISSION STATEMENT 433 00:14:50,551 --> 00:14:53,454 AS OF THIS MINUTE, THIS IS FOR 434 00:14:53,454 --> 00:14:56,924 THE OVERALL NIH, IS TO SEEK 435 00:14:56,924 --> 00:14:58,325 FUNDAMENTAL KNOWLEDGE ABOUT THE 436 00:14:58,325 --> 00:15:01,162 NATURE AND BEHAVIOR OF LIVING 437 00:15:01,162 --> 00:15:03,030 SYSTEMS, AND THE APPLICATION OF 438 00:15:03,030 --> 00:15:06,634 THAT KNOWLEDGE TO ENHANCE 439 00:15:06,634 --> 00:15:08,769 HEALTH, LENGTHEN LIFE, AND 440 00:15:08,769 --> 00:15:13,574 REDUCE ILLNESS AND DISABILITY. 441 00:15:13,574 --> 00:15:14,842 AND IT'S THE PART IN ITALICS 442 00:15:14,842 --> 00:15:15,876 THAT WAS OF CONCERN. 443 00:15:15,876 --> 00:15:19,980 SO AFTER MUCH DISCUSSION, THE 444 00:15:19,980 --> 00:15:21,449 PROPOSED MISSION STATEMENT, THE 445 00:15:21,449 --> 00:15:23,851 REVISED ONE, IS AS FOLLOWS: TO 446 00:15:23,851 --> 00:15:25,019 SEEK FUNDAMENTAL KNOWLEDGE ABOUT 447 00:15:25,019 --> 00:15:27,988 THE NATURE AND BEHAVIOR OF 448 00:15:27,988 --> 00:15:29,757 LIVING SYSTEMS AND TO APPLY THAT 449 00:15:29,757 --> 00:15:33,728 KNOWLEDGE TO OPTIMIZE HEALTH AND 450 00:15:33,728 --> 00:15:35,362 PREVENT OR REDUCE ILLNESS FOR 451 00:15:35,362 --> 00:15:37,798 ALL PEOPLE. 452 00:15:37,798 --> 00:15:41,769 NOW, THERE WAS A PUBLIC REQUEST 453 00:15:41,769 --> 00:15:43,971 FOR INFORMATION AND FEEDBACK ON 454 00:15:43,971 --> 00:15:45,072 THIS NEW PROPOSED MISSION 455 00:15:45,072 --> 00:15:45,506 STATEMENT. 456 00:15:45,506 --> 00:15:48,309 THE RESPONSES WERE DUE JUST 457 00:15:48,309 --> 00:15:49,844 AFTER THANKSGIVING, AND WE HAVE 458 00:15:49,844 --> 00:15:52,246 NOT HEARD YET WHAT THOSE 459 00:15:52,246 --> 00:15:53,414 RESPONSES ARE GOING TO BE. 460 00:15:53,414 --> 00:15:57,318 BUT I WOULD MENTION THAT WHEN 461 00:15:57,318 --> 00:16:01,055 NICHD CHANGED THEIR MISSION 462 00:16:01,055 --> 00:16:03,891 STATEMENT, BECAUSE WE DO HAVE 463 00:16:03,891 --> 00:16:05,092 THE NATIONAL CENTER FOR MEDICAL 464 00:16:05,092 --> 00:16:06,827 REHABILITATION RESEARCH IN OUR 465 00:16:06,827 --> 00:16:09,063 INSTITUTE, WE CHANGED OUR 466 00:16:09,063 --> 00:16:11,832 MISSION STATEMENT TO OPTIMIZING 467 00:16:11,832 --> 00:16:14,535 ABILITIES FOR ALL. 468 00:16:14,535 --> 00:16:17,671 SO THERE IS A CONNECTION BETWEEN 469 00:16:17,671 --> 00:16:19,807 OURS AND WHAT THE PROPOSED 470 00:16:19,807 --> 00:16:21,542 MISSION STATEMENT WILL BE FOR 471 00:16:21,542 --> 00:16:23,010 OVERALL NIH, AND I'M HAPPY TO 472 00:16:23,010 --> 00:16:24,078 DISCUSS THIS WHEN WE TAKE 473 00:16:24,078 --> 00:16:30,618 QUESTIONS. 474 00:16:30,618 --> 00:16:33,120 VERY, VERY IMPORTANTLY, AS OF 475 00:16:33,120 --> 00:16:35,256 OCTOBER 2023, THE NIH DESIGNATED 476 00:16:35,256 --> 00:16:37,424 PEOPLE WITH DISABILITIES AS A 477 00:16:37,424 --> 00:16:41,796 HEALTH DISPARITY POPULATION. 478 00:16:41,796 --> 00:16:47,168 SO THIS IS SOMETHING THAT WILL 479 00:16:47,168 --> 00:16:48,702 ALLOW FOR NEW FUNDING 480 00:16:48,702 --> 00:16:50,204 OPPORTUNITIES FOR INNOVATIVE 481 00:16:50,204 --> 00:16:53,507 APPROACHES AND INTERVENTIONS 482 00:16:53,507 --> 00:16:56,210 THAT ADDRESS THE INTERSECTION OF 483 00:16:56,210 --> 00:16:58,913 PHYSICAL DISABILITY, RACE AND 484 00:16:58,913 --> 00:17:01,315 ETHNICITY AND SOCIOECONOMIC 485 00:17:01,315 --> 00:17:03,050 STATUS ON HEALTHCARE ACCESS AND 486 00:17:03,050 --> 00:17:05,119 HEALTH OUTCOMES. 487 00:17:05,119 --> 00:17:07,221 NICHD HAS A SPECIFIC MISSION 488 00:17:07,221 --> 00:17:08,789 AREA OF INCLUDING PEOPLE WITH 489 00:17:08,789 --> 00:17:10,090 DISABILITIES IN RESEARCH, BUT 490 00:17:10,090 --> 00:17:12,426 THIS IS GOING TO BROADEN THE 491 00:17:12,426 --> 00:17:15,062 AREA OF RESEARCH ACROSS ALL OF 492 00:17:15,062 --> 00:17:16,730 THE INSTITUTES AND CENTERS. 493 00:17:16,730 --> 00:17:22,636 SO WE'RE VERY EXCITED ABOUT IT. 494 00:17:22,636 --> 00:17:24,905 AND THAT BRINGS ME TO SOME OF 495 00:17:24,905 --> 00:17:25,439 THE ADVANCES IN MUSCULAR 496 00:17:25,439 --> 00:17:26,674 DYSTROPHY RESEARCH. 497 00:17:26,674 --> 00:17:29,476 SO THE FIRST ONE IS A STUDY THAT 498 00:17:29,476 --> 00:17:34,014 WAS SUPPORTED BY NICHD, NIAMS, 499 00:17:34,014 --> 00:17:36,750 NHLBI, NINDS, AND THE ROBERT A. 500 00:17:36,750 --> 00:17:40,354 WELCH FOUNDATION, PUBLISHED IN 501 00:17:40,354 --> 00:17:41,722 NATURE COMMUNICATIONS AND IT 502 00:17:41,722 --> 00:17:44,124 INVOLVES UNDERSTANDING MYOFIBER 503 00:17:44,124 --> 00:17:45,526 DEVELOPMENT AND NEUROMUSCULAR 504 00:17:45,526 --> 00:17:47,228 DISEASE PATHWAYS. 505 00:17:47,228 --> 00:17:48,395 SO THE PROBLEM THAT THEY WERE 506 00:17:48,395 --> 00:17:50,197 TRYING TO SOLVE IS THAT GENE 507 00:17:50,197 --> 00:17:51,999 REGULATORY NETWORKS THAT 508 00:17:51,999 --> 00:17:54,668 ACTIVATE SUCCESSIVE PHASES OF 509 00:17:54,668 --> 00:17:55,903 MYOGENESIS IN VIVO HAVE NOT BEEN 510 00:17:55,903 --> 00:17:59,440 FULL FULLY DESCRIBED TO DATE. 511 00:17:59,440 --> 00:18:01,508 SO THESE RESEARCHERS CONSTRUCTED 512 00:18:01,508 --> 00:18:06,046 AN ATLAS OF MOUSE SKELETAL 513 00:18:06,046 --> 00:18:07,314 MUSCLE DEVELOPMENT AND 514 00:18:07,314 --> 00:18:08,415 MATURATION ACROSS DIFFERENT TIME 515 00:18:08,415 --> 00:18:10,117 PERIODS, SUCH AS EMBRYONIC, 516 00:18:10,117 --> 00:18:12,453 FETAL, AND POSTNATAL. 517 00:18:12,453 --> 00:18:16,724 THEY USE SINGLE-NUCLEUS RNA AND 518 00:18:16,724 --> 00:18:18,359 ATAC SEQUENCING TO IDENTIFY 519 00:18:18,359 --> 00:18:19,159 THREE TRANSCRIPTION FACTORS THAT 520 00:18:19,159 --> 00:18:22,363 FORM A COMPLEX AND TRIGGERS 521 00:18:22,363 --> 00:18:23,731 ACTIVATION OF MUSCLE GENE 522 00:18:23,731 --> 00:18:26,433 EXPRESSION IN NEW MUSCLE FIBERS. 523 00:18:26,433 --> 00:18:28,469 THEY ALSO IDENTIFIED A 524 00:18:28,469 --> 00:18:29,637 TRANSCRIPTION FACTOR THAT 525 00:18:29,637 --> 00:18:31,272 ACTIVATES THE MATURATION PHASE 526 00:18:31,272 --> 00:18:33,607 IN FAST MUSCLES. 527 00:18:33,607 --> 00:18:35,876 AND ALTHOUGH THIS IS BASIC 528 00:18:35,876 --> 00:18:37,811 RESEARCH, THE FINDINGS COULD 529 00:18:37,811 --> 00:18:38,946 INFORM FUTURE THERAPEUTIC AND 530 00:18:38,946 --> 00:18:45,119 RESEARCH TARGETS. 531 00:18:45,119 --> 00:18:48,422 THE NEXT STUDY PUBLISHED IN CELL 532 00:18:48,422 --> 00:18:52,059 WAS SUPPORTED BY NIAMS AND THE 533 00:18:52,059 --> 00:18:52,660 NATIONAL INSTITUTE ON AGING. 534 00:18:52,660 --> 00:18:54,862 THIS WAS ALSO BASIC RESEARCH, 535 00:18:54,862 --> 00:18:57,665 AND WAS ON DEVELOPING A 536 00:18:57,665 --> 00:18:59,166 SPECIALIZED CLASS OF DELIVERY 537 00:18:59,166 --> 00:19:01,669 VEHICLES THAT ARE SPECIFIC FOR 538 00:19:01,669 --> 00:19:02,336 SKELETAL MUSCLE. 539 00:19:02,336 --> 00:19:04,872 SO OBVIOUSLY SOME PRE-CLINICAL 540 00:19:04,872 --> 00:19:06,774 WORK THAT MIGHT HAVE THERAPEUTIC 541 00:19:06,774 --> 00:19:09,076 IMPLICATIONS. 542 00:19:09,076 --> 00:19:10,577 SKELETAL MUSCLE DEVELOPMENT 543 00:19:10,577 --> 00:19:12,079 REQUIRES MEMBRANE FUSION EVENTS 544 00:19:12,079 --> 00:19:15,849 TO FORM MYOFIBERS. 545 00:19:15,849 --> 00:19:19,687 MYOMAKER AND MYOMERGER ARE 546 00:19:19,687 --> 00:19:21,755 MUSCLE-SPECIFIC CELL FUSOGENS. 547 00:19:21,755 --> 00:19:23,991 AND THIS PARTICULAR STUDY SHOWED 548 00:19:23,991 --> 00:19:28,028 THAT INCLUDING MYOGENIC SPECIFIC 549 00:19:28,028 --> 00:19:29,430 FUSOGENS ON THE SURFACE OF 550 00:19:29,430 --> 00:19:32,266 ENVELOPED VIRUSES, SUCH AS 551 00:19:32,266 --> 00:19:33,500 LENTIVIRUSES, IMPROVES THE 552 00:19:33,500 --> 00:19:35,069 SPECIFICITY AND DELIVERY OF 553 00:19:35,069 --> 00:19:36,236 REPORTER AND THERAPEUTIC 554 00:19:36,236 --> 00:19:39,907 TARGETS. 555 00:19:39,907 --> 00:19:42,176 THIS STUDY SHOWED THAT 556 00:19:42,176 --> 00:19:43,410 PREVENTING OFF TARGET EXPRESSION 557 00:19:43,410 --> 00:19:47,181 OF VIRAL CARGO DURING GENE 558 00:19:47,181 --> 00:19:49,283 TRANSFER OR GENE EDITING 559 00:19:49,283 --> 00:19:51,652 THERAPEUTICS MAY REDUCE THE 560 00:19:51,652 --> 00:19:55,823 TOXICITY GENERALLY SEEN WITH 561 00:19:55,823 --> 00:19:56,256 THESE THERAPEUTICS. 562 00:19:56,256 --> 00:19:58,792 OF COURSE THE CAVEAT IS THAT 563 00:19:58,792 --> 00:19:59,326 MORE PRE-CLINICAL AND 564 00:19:59,326 --> 00:20:00,294 TRANSLATIONAL RESEARCH ARE 565 00:20:00,294 --> 00:20:02,563 NEEDED TO FURTHER DEVELOP THIS 566 00:20:02,563 --> 00:20:05,666 METHOD. 567 00:20:05,666 --> 00:20:07,801 THIRD STUDY IS SUPPORTED BY -- 568 00:20:07,801 --> 00:20:11,071 WAS SUPPORTED BY NIAMS, NICHD, 569 00:20:11,071 --> 00:20:12,706 NINDS. 570 00:20:12,706 --> 00:20:15,843 THE FSHD SOCIETY, THE CHRIS KREE 571 00:20:15,843 --> 00:20:18,679 KNOW FOUNDATION, FRIENDS OF FSH 572 00:20:18,679 --> 00:20:20,447 RESEARCH AND OTHER CAREER 573 00:20:20,447 --> 00:20:22,016 DEVELOPMENT PROGRAMS, AND I KNOW 574 00:20:22,016 --> 00:20:23,951 THAT IN THE PAST, WE'VE TALKED 575 00:20:23,951 --> 00:20:24,918 ABOUT DUX4. 576 00:20:24,918 --> 00:20:27,921 THIS WAS A STUDY OF DUX4 POST 577 00:20:27,921 --> 00:20:28,789 TRANSLATIONAL MODIFICATIONS, AND 578 00:20:28,789 --> 00:20:31,225 IT REVEALED POTENTIAL NOVEL 579 00:20:31,225 --> 00:20:36,897 TARGETS FOR SMALL MOLECULE 580 00:20:36,897 --> 00:20:37,331 TREATMENTS. 581 00:20:37,331 --> 00:20:40,601 SO FSHD IS CAUSED BY NORMAL 582 00:20:40,601 --> 00:20:41,802 DE-REPRESSION OF THE 583 00:20:41,802 --> 00:20:44,338 TRANSCRIPTION FACTOR DUX4. 584 00:20:44,338 --> 00:20:44,938 TRANSCRIPTIONAL REGULATION OF 585 00:20:44,938 --> 00:20:48,809 THE DUX4 PROTEIN IS UNCLEAR, SO 586 00:20:48,809 --> 00:20:53,347 THESE RESEARCHERS CHARACTERIZED 587 00:20:53,347 --> 00:20:54,348 DUX4 POST TRANSLATIONAL 588 00:20:54,348 --> 00:20:55,849 MODIFICATIONS, AND THEIR IMPACT 589 00:20:55,849 --> 00:21:00,120 ON THE TOXIC FUNCTION OF DUX4 IN 590 00:21:00,120 --> 00:21:02,489 VITRO. 591 00:21:02,489 --> 00:21:05,125 THESE RESEARCHERS IDENTIFIED 592 00:21:05,125 --> 00:21:07,094 DUX4 AMINO ACIDS WITH POST 593 00:21:07,094 --> 00:21:07,995 TRANSLATIONAL MODIFICATIONS AND 594 00:21:07,995 --> 00:21:09,129 GENERATED MUTANTS TO PREVENT OR 595 00:21:09,129 --> 00:21:13,133 MIMIC THEM. 596 00:21:13,133 --> 00:21:14,735 FIVE MUTANTING PROTECTED THE 597 00:21:14,735 --> 00:21:16,170 CELLS AGAINST TOXICITY AND 598 00:21:16,170 --> 00:21:20,240 REDUCED THE ABILITY OF DUX4 TO 599 00:21:20,240 --> 00:21:22,276 ACTIVATE FSHD BIOMARKERS. 600 00:21:22,276 --> 00:21:23,877 I'M SPEAKING TOO FAST. 601 00:21:23,877 --> 00:21:25,846 THE POTENTIAL FOR KINASES WITH 602 00:21:25,846 --> 00:21:30,584 HIGH DUX4 PHOSPHORYLATION 603 00:21:30,584 --> 00:21:33,921 ACTIVITY, THERE'S A POTENTIAL 604 00:21:33,921 --> 00:21:34,855 THAT THE PHOSPHORYLATION 605 00:21:34,855 --> 00:21:36,723 ACTIVITY WILL BE TARGETS FOR 606 00:21:36,723 --> 00:21:38,358 SMALL MOLECULE TREATMENT. 607 00:21:38,358 --> 00:21:40,527 SO WE HAVE THREE STUDIES SO FAR 608 00:21:40,527 --> 00:21:43,397 THAT ARE BASIC STUDIES THAT 609 00:21:43,397 --> 00:21:44,832 POTENTIALLY WILL HAVE RELEVANCE 610 00:21:44,832 --> 00:21:50,237 IN TERMS OF FUTURE TREATMENT. 611 00:21:50,237 --> 00:21:53,340 OKAY, THE FOURTH STUDY WAS 612 00:21:53,340 --> 00:21:55,843 SUPPORTED BY NINDS, THE MDA 613 00:21:55,843 --> 00:21:58,479 CLINICAL RESEARCH NETWORK, THE 614 00:21:58,479 --> 00:22:01,181 FSHD SOCIETY, AND FRIENDS OF FSH 615 00:22:01,181 --> 00:22:03,083 RESEARCH. 616 00:22:03,083 --> 00:22:05,252 PUBLISHED IN NEUROMUSCULAR 617 00:22:05,252 --> 00:22:07,354 DISORDERS. 618 00:22:07,354 --> 00:22:09,923 AND IT VALIDATED -- IT WAS ON 619 00:22:09,923 --> 00:22:11,191 VALIDATING BIOMARKERS AND 620 00:22:11,191 --> 00:22:16,163 OUTCOME MEASURES FOR FSHD. 621 00:22:16,163 --> 00:22:18,499 SO AS WE ANTICIPATE UPCOMING 622 00:22:18,499 --> 00:22:20,634 THERAPEUTIC TRIALS IN FSHD, 623 00:22:20,634 --> 00:22:24,471 THERE'S A NEED FOR 624 00:22:24,471 --> 00:22:24,972 COST-EFFECTIVE, READILY 625 00:22:24,972 --> 00:22:27,741 AVAILABLE OBJECTIVE MEASURES TO 626 00:22:27,741 --> 00:22:30,711 TEST THE EFFECTS OF THERAPY. 627 00:22:30,711 --> 00:22:34,148 SO THERE WAS A STUDY CALLED THE 628 00:22:34,148 --> 00:22:35,782 RESOLVE STUDY, CLINICAL TRIAL 629 00:22:35,782 --> 00:22:37,384 READINESS TO SOLVE BARRIERS TO 630 00:22:37,384 --> 00:22:40,621 DRUG DEVELOPMENT IN FSHD. 631 00:22:40,621 --> 00:22:44,324 IT'S A PROSPECTIVE LONGITUDAL 632 00:22:44,324 --> 00:22:46,627 OBSERVATIONAL MULTISITE STUDY. 633 00:22:46,627 --> 00:22:50,197 THESE RESEARCHERS USED DEXA 634 00:22:50,197 --> 00:22:54,701 MEASUREMENTS, SO DUAL ENERGY 635 00:22:54,701 --> 00:22:58,272 X-RAY AB SORP TOM TREE 636 00:22:58,272 --> 00:22:59,206 MEASUREMENT OF ASSOCIATIONS WITH 637 00:22:59,206 --> 00:23:01,175 STRENGTH AND FUNCTIONAL OUTCOMES 638 00:23:01,175 --> 00:23:02,943 TO MEASURE LEAN TISSUE MASS. 639 00:23:02,943 --> 00:23:04,845 AND THEIR DATA DEMONSTRATED A 640 00:23:04,845 --> 00:23:07,447 CORRELATION BETWEEN ARM AND LEG 641 00:23:07,447 --> 00:23:09,383 STRENGTH AND LEAN TISSUE MASS 642 00:23:09,383 --> 00:23:10,851 FOR BOTH THE RIGHT AND LEFT 643 00:23:10,851 --> 00:23:13,253 EXTREMITIES. 644 00:23:13,253 --> 00:23:15,789 SO BOTTOM LINE IS THAT THESE 645 00:23:15,789 --> 00:23:17,391 DEXA SCANS COULD SERVE AS AN 646 00:23:17,391 --> 00:23:19,793 EASY AND ECONOMICAL MEASURE IN 647 00:23:19,793 --> 00:23:21,662 EARLY-PHASE STUDIES AND AS A 648 00:23:21,662 --> 00:23:24,364 SECONDARY END POINT IN EFFICACY 649 00:23:24,364 --> 00:23:29,703 TRIALS. 650 00:23:29,703 --> 00:23:31,138 I THINK IT'S THE FIFTH STUDY NOW 651 00:23:31,138 --> 00:23:35,342 THAT WAS SUPPORTED BY NHLBI IN 652 00:23:35,342 --> 00:23:36,476 CIRCULATION HEART FAILURE, AND 653 00:23:36,476 --> 00:23:40,180 THIS IS LOOKING AT ONE OF THE 654 00:23:40,180 --> 00:23:44,117 IMPORTANT CAUSES OF MORTALITY IN 655 00:23:44,117 --> 00:23:44,851 DUCHENNE MUSCULAR DYSTROPHY, AND 656 00:23:44,851 --> 00:23:47,387 THEY WERE LOOKING SPECIFICALLY 657 00:23:47,387 --> 00:23:51,225 AT CARDIAC END POINTS IN DMD 658 00:23:51,225 --> 00:23:54,995 THERAPEUTIC TRIALS. 659 00:23:54,995 --> 00:23:57,130 AS I SAID, CARDIOPULMONARY 660 00:23:57,130 --> 00:23:58,532 FAILURE IS THE LEADING CAUSE OF 661 00:23:58,532 --> 00:23:59,633 DEATH IN DUCHENNE MUSCULAR 662 00:23:59,633 --> 00:24:00,534 DYSTROPHY. 663 00:24:00,534 --> 00:24:04,471 THERE ARE NO FDA-APPROVED 664 00:24:04,471 --> 00:24:05,405 CARDIAC END POINTS. 665 00:24:05,405 --> 00:24:07,007 SO THEORY SEARCHERS EVALUATED 666 00:24:07,007 --> 00:24:10,877 THE RATE OF CHANGE FOR CARDIAC 667 00:24:10,877 --> 00:24:12,246 MAGNETIC RESONANCE AND BLOOD 668 00:24:12,246 --> 00:24:15,882 BIOMARKERS TO DETERMINE WHICH 669 00:24:15,882 --> 00:24:18,518 MEASURES ASSOCIATE WITH 670 00:24:18,518 --> 00:24:19,253 CARDIOVASCULAR DEATH. 671 00:24:19,253 --> 00:24:20,220 THERE'S SOMETHING MISSING THERE. 672 00:24:20,220 --> 00:24:22,155 THEY IDENTIFIED SURROGATE 673 00:24:22,155 --> 00:24:25,325 OUTCOME MEASURES FOR CLINICAL 674 00:24:25,325 --> 00:24:26,693 TRIALS FOR DMD. 675 00:24:26,693 --> 00:24:31,999 SO THESE KINDS OF END POINTS ARE 676 00:24:31,999 --> 00:24:34,201 EXTREMELY IMPORTANT TO BE ABLE 677 00:24:34,201 --> 00:24:35,535 TO DOCUMENT EITHER THERAPEUTIC 678 00:24:35,535 --> 00:24:37,137 EFFECTS OR UNFORTUNATE SIDE 679 00:24:37,137 --> 00:24:43,677 EFFECTS. 680 00:24:43,677 --> 00:24:45,412 SO THE NEXT STUDY WAS SUPPORTED 681 00:24:45,412 --> 00:24:47,414 BY NINDS, AND IT WAS PUBLISHED 682 00:24:47,414 --> 00:24:50,584 IN MUSCLE AND NERVE AND WAS 683 00:24:50,584 --> 00:24:53,620 LOOKING AT THE ASSOCIATION 684 00:24:53,620 --> 00:24:57,958 BETWEEN CANCER AND MYOTONIC 685 00:24:57,958 --> 00:24:58,292 DYSTROPHY. 686 00:24:58,292 --> 00:25:00,360 SO PEOPLE WHO HAVE BOTH FORMS OF 687 00:25:00,360 --> 00:25:03,597 MYOTONIC DYSTROPHY, THE DM1 AND 688 00:25:03,597 --> 00:25:05,198 DM2 VARIETIES, HAVE AN INCREASED 689 00:25:05,198 --> 00:25:12,239 RISK OF DEVELOPING CANCER SO AS 690 00:25:12,239 --> 00:25:13,740 A CLINICAL RESEARCH STUDY, THEY 691 00:25:13,740 --> 00:25:14,941 ASKED WHETHER FREQUENCY AND 692 00:25:14,941 --> 00:25:17,244 CANCER TYPE DIFFERED BETWEEN 693 00:25:17,244 --> 00:25:20,013 MYOTONIC DYSTROPHY SUBTYPES AND 694 00:25:20,013 --> 00:25:24,017 A NON-MYOTONIC DYSTROPHY 695 00:25:24,017 --> 00:25:25,719 MUSCULAR DYSTROPHY COHORT. 696 00:25:25,719 --> 00:25:27,321 AND THEY FOUND THAT THERE WAS AN 697 00:25:27,321 --> 00:25:29,923 INCREASED RISK OF 698 00:25:29,923 --> 00:25:32,125 NON-SEX-RELATED CANCERS IN 699 00:25:32,125 --> 00:25:34,628 DM1 COMPARED TO DM2. 700 00:25:34,628 --> 00:25:36,363 AND THERE WAS ALSO AN INCREASED 701 00:25:36,363 --> 00:25:39,633 RISK OF SEX-RELATED CANCERS 702 00:25:39,633 --> 00:25:42,069 INCLUDING OVARIAN CANCER IN 703 00:25:42,069 --> 00:25:45,339 DM1 RELATIVE TO NON-MUSCULAR 704 00:25:45,339 --> 00:25:48,308 DYSTROPHY -- THE NON-MYOTONIC 705 00:25:48,308 --> 00:25:48,975 DYSTROPHY MUSCULAR DYSTROPHY 706 00:25:48,975 --> 00:25:49,910 COHORT. 707 00:25:49,910 --> 00:25:52,212 THERE WAS NO SIGNIFICANT 708 00:25:52,212 --> 00:25:54,915 ASSOCIATION BETWEEN CTG REPEAT 709 00:25:54,915 --> 00:25:58,085 LENGTH AND CANCER IN THE 710 00:25:58,085 --> 00:26:00,420 MYOTONIC DYSTROPHY PATIENTS. 711 00:26:00,420 --> 00:26:01,855 THESE RESEARCHERS RECOMMENDED 712 00:26:01,855 --> 00:26:05,859 ANNUAL SKIN CHECKS TO RULE OUT 713 00:26:05,859 --> 00:26:08,862 SKIN CANCER, THYROID GLAND 714 00:26:08,862 --> 00:26:10,163 PALPATION AT ANNUAL VISITS TO 715 00:26:10,163 --> 00:26:12,432 RULE OUT THYROID CANCER, AND TO 716 00:26:12,432 --> 00:26:14,835 HAVE A LOW THRESHOLD TO 717 00:26:14,835 --> 00:26:17,971 INVESTIGATE POSSIBLE UROLOGICAL 718 00:26:17,971 --> 00:26:22,642 AND HEMATOLOGICAL CANCERS IN DMR 719 00:26:22,642 --> 00:26:29,116 IN DM2 PATIENTS. 720 00:26:29,116 --> 00:26:31,651 SO THOSE ARE THE HIGHLIGHTS. 721 00:26:31,651 --> 00:26:37,124 I'M HAPPY TO ANSWER QUESTIONS. 722 00:26:37,124 --> 00:26:40,127 PLEASE RAISE YOUR HAND AND 723 00:26:40,127 --> 00:26:46,767 DR. NUCKOLLS WILL CALL ON YOU. 724 00:26:46,767 --> 00:26:49,302 >> ANY QUESTIONS OR COMMENTS FOR 725 00:26:49,302 --> 00:26:49,636 DR. BIANCHI? 726 00:26:49,636 --> 00:26:50,670 AND IF YOU'RE IN THE ROOM, 727 00:26:50,670 --> 00:26:52,172 PLEASE BRING YOUR MIC UP CLOSE 728 00:26:52,172 --> 00:27:02,516 SO WE CAN HEAR YOU. 729 00:27:03,150 --> 00:27:04,651 >> I'M GOING TO GUESS IT WAS 730 00:27:04,651 --> 00:27:05,185 CRYSTAL CLEAR. 731 00:27:05,185 --> 00:27:05,852 OH, SORRY. 732 00:27:05,852 --> 00:27:06,086 LINDSEY. 733 00:27:06,086 --> 00:27:07,687 >> THANKS, DR. BIANCHI, FOR A 734 00:27:07,687 --> 00:27:10,190 CLEAR PRESENTATION AND EXPRESS 735 00:27:10,190 --> 00:27:11,992 MY EXCITEMENT ABOUT ALL OF THE 736 00:27:11,992 --> 00:27:12,259 PROGRESS. 737 00:27:12,259 --> 00:27:14,694 SO THIS IS REALLY IMPRESSIVE. 738 00:27:14,694 --> 00:27:16,530 AND REALLY EXCITING TO THINK 739 00:27:16,530 --> 00:27:17,964 ABOUT WHERE THIS MAY LEAD. 740 00:27:17,964 --> 00:27:18,632 SO THANKS SO MUCH. 741 00:27:18,632 --> 00:27:21,435 THAT WAS A GREAT OVERVIEW. 742 00:27:21,435 --> 00:27:28,875 >> THANK YOU. 743 00:27:28,875 --> 00:27:33,680 >> I HAVE A SHORT QUESTION ABOUT 744 00:27:33,680 --> 00:27:35,048 THE BUDGET FOR THE YEAR. 745 00:27:35,048 --> 00:27:38,552 IS THERE ANY POSSIBILITY THAT 746 00:27:38,552 --> 00:27:44,057 THEY CAN APPROVE A REDUCTION IN 747 00:27:44,057 --> 00:27:45,492 THE BUDGET OR WE KNOW THAT THE 748 00:27:45,492 --> 00:27:47,661 BUDGET IS AS IS NOW AND IT COULD 749 00:27:47,661 --> 00:27:49,496 BE AN INCREASE BUT NOT A 750 00:27:49,496 --> 00:27:50,697 REDUCTION? 751 00:27:50,697 --> 00:27:54,901 >> WHAT A WONDERFUL QUESTION. 752 00:27:54,901 --> 00:27:55,602 I THINK THIS -- 753 00:27:55,602 --> 00:27:59,673 >> I UNDERSTOOD THE -- 754 00:27:59,673 --> 00:28:01,608 >> I THINK THE SHORTEST WAY TO 755 00:28:01,608 --> 00:28:04,177 ANSWER THAT IS ALL BETZ ARE OFF, 756 00:28:04,177 --> 00:28:04,845 REALLY. 757 00:28:04,845 --> 00:28:06,546 YOU HEAR ONE FACTION IN CONGRESS 758 00:28:06,546 --> 00:28:08,815 SAYING THEY'RE GOING TO SLASH 759 00:28:08,815 --> 00:28:11,751 THE FEDERAL BUDGET BY 30%. 760 00:28:11,751 --> 00:28:13,820 YOU HEAR OTHER PEOPLE TALKING 761 00:28:13,820 --> 00:28:16,690 ABOUT INCREASES IN SPECIFIC 762 00:28:16,690 --> 00:28:17,757 AREAS. 763 00:28:17,757 --> 00:28:19,759 WE DO OUR BEST JOB WITH THE 764 00:28:19,759 --> 00:28:21,628 CONGRESSIONAL JUSTIFICATION. 765 00:28:21,628 --> 00:28:26,233 I KNOW THAT THE STAFF ARE STILL 766 00:28:26,233 --> 00:28:27,200 MEETING AND ASKING QUESTIONS. 767 00:28:27,200 --> 00:28:28,435 FOR EXAMPLE, I HAVE A BRIEFING 768 00:28:28,435 --> 00:28:30,504 ON MONDAY WITH SOME OF THE 769 00:28:30,504 --> 00:28:32,305 CONGRESSIONAL STAFF ABOUT A 770 00:28:32,305 --> 00:28:34,908 COUPLE OF TOPICS IN OUR 771 00:28:34,908 --> 00:28:35,175 INSTITUTE. 772 00:28:35,175 --> 00:28:37,511 SO THEY ARE WORKING ON IT. 773 00:28:37,511 --> 00:28:40,347 THE QUESTION IS, YOU KNOW, RIGHT 774 00:28:40,347 --> 00:28:43,483 NOW, IT'S SO POLITICAL THAT IT'S 775 00:28:43,483 --> 00:28:45,719 HARD TO TELL WHAT'S GOING TO 776 00:28:45,719 --> 00:28:46,219 HAPPEN. 777 00:28:46,219 --> 00:28:48,288 WE KNOW THAT WE HAVE BIPARTISAN 778 00:28:48,288 --> 00:28:48,522 SUPPORT. 779 00:28:48,522 --> 00:28:54,628 I SHOULD HAVE MENTIONED THAT DRY 780 00:28:54,628 --> 00:28:56,863 STRONG BIPARTISAN SUPPORT IN HER 781 00:28:56,863 --> 00:28:57,797 CONFIRMATION HEARING. 782 00:28:57,797 --> 00:29:01,668 WE KNOW THAT THERE ARE SOME VERY 783 00:29:01,668 --> 00:29:06,706 PROMINENT MEMO MEMBERS OF BOTH 784 00:29:06,706 --> 00:29:07,474 PARTIES WHO SUPPORT THE NIH. 785 00:29:07,474 --> 00:29:09,009 SO WE HOPE FOR THE BEST, AND WE 786 00:29:09,009 --> 00:29:12,078 ARE PREPARED FOR ALL KINDS OF 787 00:29:12,078 --> 00:29:13,280 CONTINGENCIES, BUT WE REALLY -- 788 00:29:13,280 --> 00:29:15,015 WE DON'T KNOW WHAT'S GOING TO 789 00:29:15,015 --> 00:29:15,549 HAPPEN. 790 00:29:15,549 --> 00:29:19,719 WE CAN DO OUR BEST WITH GIVING 791 00:29:19,719 --> 00:29:21,855 EVERY MEMBER WHO ASKS 792 00:29:21,855 --> 00:29:23,323 INFORMATION BACK ABOUT WHY THIS 793 00:29:23,323 --> 00:29:26,726 MAKES A DIFFERENCE FOR PEOPLE IN 794 00:29:26,726 --> 00:29:27,694 THE UNITED STATES AND AROUND THE 795 00:29:27,694 --> 00:29:28,828 WORLD. 796 00:29:28,828 --> 00:29:30,297 WE CAN -- I KNOW THAT ADVOCACY 797 00:29:30,297 --> 00:29:33,066 GROUPS ARE WORKING VERY HARD, 798 00:29:33,066 --> 00:29:35,135 BUT AT THE END OF THE DAY, IT 799 00:29:35,135 --> 00:29:37,604 WILL RELATE TO THE 800 00:29:37,604 --> 00:29:39,372 APPROPRIATIONS COMMITTEES AND 801 00:29:39,372 --> 00:29:41,241 THEN THE FULL SENATE AND HOUSE 802 00:29:41,241 --> 00:29:44,844 VOTING ON THE BUDGETS. 803 00:29:44,844 --> 00:29:46,379 I WISH I COULD BE MORE 804 00:29:46,379 --> 00:29:50,450 DEFINITIVE. 805 00:29:50,450 --> 00:29:52,452 >> I SEE DAN PEREZ HAS JOINED. 806 00:29:52,452 --> 00:29:53,753 SO DAN, WOULD YOU LIKE TO 807 00:29:53,753 --> 00:30:03,029 INTRODUCE YOURSELF? 808 00:30:03,029 --> 00:30:05,765 >> HI. 809 00:30:05,765 --> 00:30:06,099 I'M DAN. 810 00:30:06,099 --> 00:30:06,967 NICE TO BE HERE. 811 00:30:06,967 --> 00:30:11,037 I'M SORRY FOR MY DELAY. 812 00:30:11,037 --> 00:30:14,641 MY NAME IS DANIEL PR PEREZ. 813 00:30:14,641 --> 00:30:18,445 I AM THE CO-FOUNDER AND DIRECTOR 814 00:30:18,445 --> 00:30:24,818 EMERITUS OF THE SSHD SOCIETY, 815 00:30:24,818 --> 00:30:27,654 AND ONE OF THE LONGEST STANDING 816 00:30:27,654 --> 00:30:30,590 MEMBERS OF THE MDCC. 817 00:30:30,590 --> 00:30:37,430 I WOULD LIKE TO SAY HI TO JUNE 818 00:30:37,430 --> 00:30:40,033 KINOSHITA WHO IS WITH US FROM 819 00:30:40,033 --> 00:30:40,734 THE FSHD SOCIETY. 820 00:30:40,734 --> 00:30:42,202 THANK YOU, JUNE, FOR JOINING US. 821 00:30:42,202 --> 00:30:46,473 AND I WANT TO SAY HI TO ALL MY 822 00:30:46,473 --> 00:30:49,109 COLLEAGUES ON THE MDCC, AND GOOD 823 00:30:49,109 --> 00:30:52,712 TO SEE YOU ALL, AND THANK YOU 824 00:30:52,712 --> 00:30:59,486 FOR YOUR GOOD WORK. 825 00:30:59,486 --> 00:31:01,488 I'VE SPENT 30 YEARS WORKING 826 00:31:01,488 --> 00:31:04,157 ON -- GAPS IN MUSCULAR 827 00:31:04,157 --> 00:31:06,359 DYSTROPHY. 828 00:31:06,359 --> 00:31:12,966 MY ORGANIZATION, ALONG WITH NIH 829 00:31:12,966 --> 00:31:14,167 HAVE LED TO THE UNRAVELING OF 830 00:31:14,167 --> 00:31:16,970 THE MECHANISM OF FSHD, AND NOW 831 00:31:16,970 --> 00:31:21,207 WE ARE LARGELY ON TO TRYING TO 832 00:31:21,207 --> 00:31:25,178 TREAT THE DISEASE AND CURE IT. 833 00:31:25,178 --> 00:31:28,114 SO WITH THAT, I'LL SAY THANK 834 00:31:28,114 --> 00:31:31,184 YOU, AND GOOD TO SEE YOU. 835 00:31:31,184 --> 00:31:33,153 >> THANK YOU SO MUCH, DAN AND 836 00:31:33,153 --> 00:31:34,387 JUNE FOR JOINING US. 837 00:31:34,387 --> 00:31:36,723 DAN, I HOPE WHATEVER WAS GOING 838 00:31:36,723 --> 00:31:39,192 ON WITH YOUR FAMILY HAS RESOLVED 839 00:31:39,192 --> 00:31:43,897 AND THAT EVERYTHING IS OKAY. 840 00:31:43,897 --> 00:31:46,433 WE DID PRESENT SOME HIGHLIGHTS 841 00:31:46,433 --> 00:31:48,601 OF RECENT RESEARCH ON FSHD. 842 00:31:48,601 --> 00:31:50,370 SO YOU CAN LOOK AT THE RECORDING 843 00:31:50,370 --> 00:31:52,806 TO HEAR WHAT WE SELECTED. 844 00:31:52,806 --> 00:31:55,508 >> I DID JUST WANT TO SAY, 845 00:31:55,508 --> 00:31:59,646 HAVING BEEN IN THE ER TWICE THIS 846 00:31:59,646 --> 00:32:05,185 WEEK WITH MY WIFE, IT'S REALLY 847 00:32:05,185 --> 00:32:15,729 UNPRECEDENTED TO SEE HOW -- IT'S 848 00:32:18,198 --> 00:32:21,868 QUITE EYE OPENING JUST TO SEE 849 00:32:21,868 --> 00:32:24,838 THE DISTRESS UNDER WHICH THE 850 00:32:24,838 --> 00:32:29,309 HOSPITALS ARE, AND QUITE 851 00:32:29,309 --> 00:32:32,145 SOBERING AND QUITE FRIGHTENING. 852 00:32:32,145 --> 00:32:35,315 I HOPE THINGS DO CHANGE. 853 00:32:35,315 --> 00:32:36,249 THANK YOU. 854 00:32:36,249 --> 00:32:37,417 >> WE'RE GLAD THAT YOU COULD BE 855 00:32:37,417 --> 00:32:41,755 WITH US. 856 00:32:41,755 --> 00:32:44,991 OKAY. 857 00:32:44,991 --> 00:32:46,359 >> I HAD A QUESTION AND I'M 858 00:32:46,359 --> 00:32:47,627 SORRY I HAD TO STEP AWAY WHEN 859 00:32:47,627 --> 00:32:50,463 YOU WERE DOING INTRODUCTIONS, SO 860 00:32:50,463 --> 00:32:53,633 DAN, I THINK, HAS SEMI 861 00:32:53,633 --> 00:32:55,268 INTRODUCED ME AND IT HAS BEEN MY 862 00:32:55,268 --> 00:32:57,170 INCREDIBLE HONOR TO WORK 863 00:32:57,170 --> 00:32:58,838 ALONGSIDE DAN FOR THESE PAST 12 864 00:32:58,838 --> 00:32:59,472 YEARS. 865 00:32:59,472 --> 00:33:00,940 I'M CURRENTLY SERVING AS THE 866 00:33:00,940 --> 00:33:02,308 SENIOR DIRECTOR OF RESEARCH AND 867 00:33:02,308 --> 00:33:04,944 EDUCATION FOR THE FSHD SOCIETY, 868 00:33:04,944 --> 00:33:06,212 AND YOU'LL HEAR MORE ABOUT THAT. 869 00:33:06,212 --> 00:33:07,514 BUT I DID ACTUALLY HAVE A 870 00:33:07,514 --> 00:33:08,982 QUESTION REGARDING THE REVISION 871 00:33:08,982 --> 00:33:13,820 OF THE MISSION STATEMENT. 872 00:33:13,820 --> 00:33:15,488 SO ONE OF THE CONUNDRUMS WE ARE 873 00:33:15,488 --> 00:33:16,956 WORKING WITH RIGHT NOW IN FSHD 874 00:33:16,956 --> 00:33:19,993 IS, AS WE ENTER INTO CLINICAL 875 00:33:19,993 --> 00:33:22,796 TRIALS, THEY EXCLUDE 876 00:33:22,796 --> 00:33:24,531 NON-AMBULATORY INDIVIDUALS. 877 00:33:24,531 --> 00:33:26,666 LIKE DAN WOULD NOT BE ABLE TO 878 00:33:26,666 --> 00:33:28,701 PARTICIPATE IN ANY CURRENT 879 00:33:28,701 --> 00:33:29,736 CLINICAL TRIALS. 880 00:33:29,736 --> 00:33:32,172 AND WE CERTAINLY UNDERSTAND 881 00:33:32,172 --> 00:33:35,041 THAT, YOU KNOW, ONE HAS TO 882 00:33:35,041 --> 00:33:38,845 TEMPERATURE GU --HAS TO STRATIFN 883 00:33:38,845 --> 00:33:40,380 TO TRY TO REMOVE A LOT OF NOISE 884 00:33:40,380 --> 00:33:43,283 AND TRY TO GET AS CLEAN DATA AS 885 00:33:43,283 --> 00:33:49,322 YOU CAN FROM THE TRIAL, BUT MANY 886 00:33:49,322 --> 00:33:52,158 OF THE INDIVIDUALS WHO HAVE 887 00:33:52,158 --> 00:33:53,760 PROGRESSED OR HAVE LOST 888 00:33:53,760 --> 00:33:55,161 AMBULATION ARE ALSO THE MOST 889 00:33:55,161 --> 00:33:56,729 MOTIVATED TO PARTICIPATE IN 890 00:33:56,729 --> 00:33:57,163 TRIALS. 891 00:33:57,163 --> 00:33:59,632 THEY HAVE CONTINUING PROGRESSION 892 00:33:59,632 --> 00:34:02,202 OF MUSCLE WEAKNESS IN THEIR 893 00:34:02,202 --> 00:34:05,872 UPPER BODY, AND WE ARE WORKING 894 00:34:05,872 --> 00:34:08,608 ON OUTCOME MEASURES THAT LOOK AT 895 00:34:08,608 --> 00:34:10,210 UPPER BODY STRENGTH, IN FACT, 896 00:34:10,210 --> 00:34:11,778 THAT'S ONE OF THE PRIMARY 897 00:34:11,778 --> 00:34:13,313 OUTCOMES, YET DESPITE THAT BEING 898 00:34:13,313 --> 00:34:15,215 A PRIMARY OUT COME, 899 00:34:15,215 --> 00:34:16,216 NON-AMBULATORY INDIVIDUALS ARE 900 00:34:16,216 --> 00:34:20,286 STILL EXCLUDED, AND WE HAVE A 901 00:34:20,286 --> 00:34:21,521 FAMILY WITH -- AND ALSO 902 00:34:21,521 --> 00:34:22,789 PEDIATRIC PATIENTS RIGHT NOW ARE 903 00:34:22,789 --> 00:34:24,090 NOT -- YOU KNOW, THAT'S A WHOLE 904 00:34:24,090 --> 00:34:27,861 'NOTHER STORY, BUT WE'RE ALL 905 00:34:27,861 --> 00:34:28,628 CONSTANTLY HEARING FROM FAMILIES 906 00:34:28,628 --> 00:34:31,231 THAT, YOU KNOW, LIKE, I HAVE A 907 00:34:31,231 --> 00:34:32,465 CHILD WHO HE COULDN'T 908 00:34:32,465 --> 00:34:35,134 PARTICIPATE IN THE TRIAL BECAUSE 909 00:34:35,134 --> 00:34:36,769 HE WAS UNDER 18, BUT NOW HE'S 910 00:34:36,769 --> 00:34:38,805 18, HE'S STILL EXCLUDED BECAUSE 911 00:34:38,805 --> 00:34:39,739 HE'S NON-AMBULATORY. 912 00:34:39,739 --> 00:34:41,307 SO WHAT I WAS WONDERING IS IF 913 00:34:41,307 --> 00:34:46,479 THERE WILL BE FUNDING TO DEVELOP 914 00:34:46,479 --> 00:34:48,448 TRIAL OUTCOME MEASURES THAT 915 00:34:48,448 --> 00:34:51,918 ARE -- THAT WILL CREATE GREATER 916 00:34:51,918 --> 00:34:54,254 ACCESSIBILITY FOR TRIALS TO 917 00:34:54,254 --> 00:34:55,688 ALLOW PEOPLE WITH DISABILITIES 918 00:34:55,688 --> 00:34:58,157 TO PARTICIPATE. 919 00:34:58,157 --> 00:35:01,060 >> THAT'S CERTAINLY OUR HOPE. 920 00:35:01,060 --> 00:35:02,362 WHETHER THERE'S SPECIFIC FUNDING 921 00:35:02,362 --> 00:35:06,699 OR NOT, I CAN'T SAY, BECAUSE IN 922 00:35:06,699 --> 00:35:08,001 MY ANSWER TO THE PREVIOUS 923 00:35:08,001 --> 00:35:10,069 QUESTION, WE DON'T KNOW WHAT THE 924 00:35:10,069 --> 00:35:11,771 BUDGET IS GOING TO BE, BUT 925 00:35:11,771 --> 00:35:13,206 CERTAINLY I CAN SPEAK FOR 926 00:35:13,206 --> 00:35:14,307 MYSELF, AND I THINK FOR THE 927 00:35:14,307 --> 00:35:17,577 OTHER DIRECTORS, THAT 928 00:35:17,577 --> 00:35:19,279 INCLUSIVITY OF AS MANY PEOPLE AS 929 00:35:19,279 --> 00:35:21,314 POSSIBLE IS SO IMPORTANT. 930 00:35:21,314 --> 00:35:22,815 AND DON'T GET ME STARTED ON 931 00:35:22,815 --> 00:35:23,249 EXCLUDING CHILDREN. 932 00:35:23,249 --> 00:35:25,018 YOU'RE SUPPOSED TO BE ABLE TO 933 00:35:25,018 --> 00:35:27,186 INCLUDE CHILDREN IN ALL CLINICAL 934 00:35:27,186 --> 00:35:30,123 TRIALS. 935 00:35:30,123 --> 00:35:33,559 SO YOU KNOW, I CAN'T SPEAK FOR 936 00:35:33,559 --> 00:35:35,828 THE PEOPLE WHO ARE DESIGNING 937 00:35:35,828 --> 00:35:37,897 THOSE CLINICAL TRIALS, BUT I CAN 938 00:35:37,897 --> 00:35:40,733 SAY THAT IT'S IMPORTANT TO 939 00:35:40,733 --> 00:35:41,801 COMMUNICATE WITH THEM THE 940 00:35:41,801 --> 00:35:45,371 IMPORTANCE OF INCLUSIVITY. 941 00:35:45,371 --> 00:35:48,508 AND I ASSUME THEY HAD THEIR 942 00:35:48,508 --> 00:35:50,710 REASONS FOR SELECTING CERTAIN 943 00:35:50,710 --> 00:35:54,380 POPULATIONS. 944 00:35:54,380 --> 00:35:57,116 BUT I TOTALLY AGREE WITH YOU, 945 00:35:57,116 --> 00:36:00,086 PEOPLE WHO HAVE THE MOST INTENSE 946 00:36:00,086 --> 00:36:02,155 LIVED EXPERIENCES ARE OFTEN THE 947 00:36:02,155 --> 00:36:05,058 BEST PARTICIPANTS OR THE MOST 948 00:36:05,058 --> 00:36:06,159 MOTIVATED PARTICIPANTS. 949 00:36:06,159 --> 00:36:09,796 THEY WILL FOLLOW UP, ET CETERA. 950 00:36:09,796 --> 00:36:12,632 ISO THIS IS REALLY AN 951 00:36:12,632 --> 00:36:14,000 ASPIRATIONAL GOAL, AND THE 952 00:36:14,000 --> 00:36:14,901 ARTICULATION OF IT IN WRITING IS 953 00:36:14,901 --> 00:36:15,802 THE FIRST STEP. 954 00:36:15,802 --> 00:36:17,437 BUT IT'S SOMETHING THAT WE ALL 955 00:36:17,437 --> 00:36:20,173 NEED TO WORK TOWARDS 956 00:36:20,173 --> 00:36:21,274 COMMUNICATING WITH PEOPLE WHO 957 00:36:21,274 --> 00:36:23,910 ARE DESIGNING CLINICAL STUDIES. 958 00:36:23,910 --> 00:36:25,278 >> THANK YOU. 959 00:36:25,278 --> 00:36:28,881 >> AND I SAW THAT DR. CRISWELL 960 00:36:28,881 --> 00:36:34,954 PUT A NOTE IN THE CHAT, WHO ALSO 961 00:36:34,954 --> 00:36:37,023 REAFFIRMED THAT INCLUSIVITY IS A 962 00:36:37,023 --> 00:36:38,324 SHARED GOAL FOR HER INSTITUTE AS 963 00:36:38,324 --> 00:36:41,527 WELL. 964 00:36:41,527 --> 00:36:41,728 OKAY. 965 00:36:41,728 --> 00:36:43,863 THANK YOU, JUNE, FOR YOUR 966 00:36:43,863 --> 00:36:44,230 COMMENTS. 967 00:36:44,230 --> 00:36:48,401 I THINK THAT IN THE INTEREST OF 968 00:36:48,401 --> 00:36:50,903 TIME, WE ARE GOING TO MOVE 969 00:36:50,903 --> 00:36:52,071 AHEAD, UNLESS -- I'LL GIVE ONE 970 00:36:52,071 --> 00:36:54,474 MORE CHANCE. 971 00:36:54,474 --> 00:36:55,274 OKAY. 972 00:36:55,274 --> 00:36:56,876 SO, SHE'S ALREADY INTRODUCED 973 00:36:56,876 --> 00:36:59,112 HERSELF, BUT WE'RE VERY EXCITED 974 00:36:59,112 --> 00:37:01,814 TO INVITE A NEW MEMBER TO OUR 975 00:37:01,814 --> 00:37:02,949 COMMITTEE. 976 00:37:02,949 --> 00:37:06,052 THAT IS DR. RADHA HOLAVANAHALLI, 977 00:37:06,052 --> 00:37:12,291 WHO'S A PROJECT OFFICER WITH THE 978 00:37:12,291 --> 00:37:12,759 NATIONAL INSTITUTE ON 979 00:37:12,759 --> 00:37:13,359 DISABILITY, INDEPENDENT LIVING 980 00:37:13,359 --> 00:37:14,494 AND REHABILITATION RESEARCH OF 981 00:37:14,494 --> 00:37:15,428 THE ADMINISTRATION FOR COMMUNITY 982 00:37:15,428 --> 00:37:16,396 LIVING. 983 00:37:16,396 --> 00:37:18,297 SHE'S A FORMER PROFESSOR OF 984 00:37:18,297 --> 00:37:21,200 PHYSICAL MEDICINE AND 985 00:37:21,200 --> 00:37:22,935 REHABILITATION AT THE UT 986 00:37:22,935 --> 00:37:24,537 SOUTHWESTERN MEDICAL SCHOOL AND 987 00:37:24,537 --> 00:37:26,839 CENTER, WHERE SHE WAS ALSO THE 988 00:37:26,839 --> 00:37:28,408 DIRECTOR OF THE PHYSICAL 989 00:37:28,408 --> 00:37:30,777 MEDICINE AND REHABILITATION 990 00:37:30,777 --> 00:37:36,682 RESIDENCY PROGRAM. 991 00:37:36,682 --> 00:37:40,219 DR. HOLAVANAHALLI IS A CURRENT 992 00:37:40,219 --> 00:37:41,821 MEMBER OF THE COUNCIL ON AGING. 993 00:37:41,821 --> 00:37:44,323 SHE'S GOING TO SERVE AS AN AD 994 00:37:44,323 --> 00:37:45,625 HOC MEMBER ON OUR COMMITTEE 995 00:37:45,625 --> 00:37:47,927 PENDING FINAL APPROVAL FROM 996 00:37:47,927 --> 00:37:51,130 SECRETARY BECERRA'S OFFICE. 997 00:37:51,130 --> 00:37:52,298 WELCOME, DR. HOLAVANAHALLI. 998 00:37:52,298 --> 00:37:53,566 I'VE PRACTICED THAT MANY TIMES, 999 00:37:53,566 --> 00:37:55,835 BUT NOW I CAN SAY IT! 1000 00:37:55,835 --> 00:37:57,537 >> THANK YOU SO MUCH FOR THAT 1001 00:37:57,537 --> 00:37:58,871 INTRODUCTION. 1002 00:37:58,871 --> 00:38:00,440 AND YES, YOU SAID MY NAME 1003 00:38:00,440 --> 00:38:01,274 PERFECT. 1004 00:38:01,274 --> 00:38:04,777 SO I HAVE SOME SLIDES HERE. 1005 00:38:04,777 --> 00:38:15,288 CAN I DO IT HERE OR -- I'M SO 1006 00:38:25,331 --> 00:38:35,274 SORRY. 1007 00:38:35,274 --> 00:38:37,877 CAN EVERYBODY HEAR ME? 1008 00:38:37,877 --> 00:38:38,578 ALL RIGHT. 1009 00:38:38,578 --> 00:38:42,315 SO THIS IS MY FIRST MEETING 1010 00:38:42,315 --> 00:38:43,950 TODAY, AND I DID PUT TOGETHER 1011 00:38:43,950 --> 00:38:46,486 SOME SLIDES ABOUT MY BACKGROUND, 1012 00:38:46,486 --> 00:38:48,788 BUT DR. BIANCHI ALREADY 1013 00:38:48,788 --> 00:38:49,322 MENTIONED THAT. 1014 00:38:49,322 --> 00:38:51,557 MY BACKGROUND IS IN MEDICAL 1015 00:38:51,557 --> 00:38:53,426 SOCIOLOGY AND GERONTOLOGY, AND 1016 00:38:53,426 --> 00:38:56,129 AS WAS MENTIONED A FEW MINUTES 1017 00:38:56,129 --> 00:38:58,064 AGO, I WAS PROFESSOR IN THE 1018 00:38:58,064 --> 00:38:59,932 PHYSICAL MEDICINE AND 1019 00:38:59,932 --> 00:39:01,968 REHABILITATION DEPARTMENT AT UT 1020 00:39:01,968 --> 00:39:02,768 SOUTHWESTERN MEDICAL CENTER IN 1021 00:39:02,768 --> 00:39:05,605 DALLAS. 1022 00:39:05,605 --> 00:39:07,073 DURING THAT TIME, I WAS 1023 00:39:07,073 --> 00:39:09,342 PRIMARILY ENGAGED IN BURN 1024 00:39:09,342 --> 00:39:11,878 REHABILITATION RESEARCH, AND DID 1025 00:39:11,878 --> 00:39:14,013 SOME SIGNIFICANT WORK WITH THE 1026 00:39:14,013 --> 00:39:15,715 AMERICAN BURN ASSOCIATION, AND I 1027 00:39:15,715 --> 00:39:19,452 WAS THE CO-CHAIR FOR AFTER CARE 1028 00:39:19,452 --> 00:39:20,686 AND REINTEGRATION COMMITTEE OF 1029 00:39:20,686 --> 00:39:21,954 THE AMERICAN BURN ASSOCIATION 1030 00:39:21,954 --> 00:39:24,690 AND ALSO SERVED ON THE ELDERLY 1031 00:39:24,690 --> 00:39:27,426 CARE COMMITTEE AND THE 1032 00:39:27,426 --> 00:39:29,629 REHABILITATION COMMITTEES OF THE 1033 00:39:29,629 --> 00:39:31,230 ABA. 1034 00:39:31,230 --> 00:39:35,902 ALSO, FROM -- SINCE 2021, I 1035 00:39:35,902 --> 00:39:39,605 TRANSITIONED TO NIDILRR, WHICH 1036 00:39:39,605 --> 00:39:41,974 IS NATIONAL INSTITUTE ON 1037 00:39:41,974 --> 00:39:43,075 DISABILITY, INDEPENDENT LIVING, 1038 00:39:43,075 --> 00:39:45,178 AND REHABILITATION RESEARCH. 1039 00:39:45,178 --> 00:39:47,079 I CURRENTLY SERVE AS THEIR 1040 00:39:47,079 --> 00:39:49,882 PROJECT OFFICER, AND I'M ALSO 1041 00:39:49,882 --> 00:39:52,084 THE COMPETITION MANAGER FOR THE 1042 00:39:52,084 --> 00:39:54,120 FIELD INITIATED PROJECTS 1043 00:39:54,120 --> 00:39:56,622 PROGRAM. 1044 00:39:56,622 --> 00:39:58,891 I'M THE CO-CHAIR FOR THE 1045 00:39:58,891 --> 00:40:00,426 DISABILITY STATISTICS 1046 00:40:00,426 --> 00:40:06,499 SUBCOMMITTEE. 1047 00:40:06,499 --> 00:40:08,401 SORRY ABOUT THAT. 1048 00:40:08,401 --> 00:40:09,936 I CURRENTLY SERVE ALSO AS THE 1049 00:40:09,936 --> 00:40:12,205 CO-CHAIR FOR THE DISABILITY 1050 00:40:12,205 --> 00:40:13,940 STATISTICS SUBCOMMITTEE, WHICH 1051 00:40:13,940 --> 00:40:15,841 IS UNDER THE INTERAGENCY 1052 00:40:15,841 --> 00:40:17,143 COMMITTEE ON DISABILITY 1053 00:40:17,143 --> 00:40:17,944 RESEARCH. 1054 00:40:17,944 --> 00:40:20,680 AND AS MENTIONED EARLIER, I ALSO 1055 00:40:20,680 --> 00:40:22,048 SERVE ON THE NATIONAL ADVISORY 1056 00:40:22,048 --> 00:40:23,950 COUNCIL ON AGING WITH THE 1057 00:40:23,950 --> 00:40:25,985 NATIONAL INSTITUTE ON AGING. 1058 00:40:25,985 --> 00:40:28,221 AND OF COURSE MY PRESENCE HERE 1059 00:40:28,221 --> 00:40:31,157 IS PENDING APPROVAL. 1060 00:40:31,157 --> 00:40:36,796 AND SO, I'M HERE TODAY 1061 00:40:36,796 --> 00:40:39,265 REPRESENTING NIDILRR, WHICH IS A 1062 00:40:39,265 --> 00:40:41,734 PART OF ACL ADMINISTRATION FOR 1063 00:40:41,734 --> 00:40:44,136 COMMUNITY LIVING. 1064 00:40:44,136 --> 00:40:46,005 AND ACL, ADMINISTRATION FOR 1065 00:40:46,005 --> 00:40:48,374 COMMUNITY LIVING, IS ONE OF 11 1066 00:40:48,374 --> 00:40:50,876 OPERATING DIVISIONS WITHIN 1067 00:40:50,876 --> 00:40:52,278 HEALTH AND HUMAN SERVICES. 1068 00:40:52,278 --> 00:40:55,548 IT IS THE PRINCIPAL AGENCY IN 1069 00:40:55,548 --> 00:40:57,016 HHS ON AGING AND DISABILITY 1070 00:40:57,016 --> 00:40:59,318 PROGRAMS. 1071 00:40:59,318 --> 00:41:01,454 NIDILRR IS AN ORGANIZATIONAL 1072 00:41:01,454 --> 00:41:04,190 UNIT WITHIN ACL, AND IT IS THE 1073 00:41:04,190 --> 00:41:06,325 GOVERNMENT'S PRIMARY RESEARCH 1074 00:41:06,325 --> 00:41:07,994 AGENCY ON DISABILITY ACROSS THE 1075 00:41:07,994 --> 00:41:13,299 LIFESPAN. 1076 00:41:13,299 --> 00:41:15,134 SO THE ADMINISTRATION FOR 1077 00:41:15,134 --> 00:41:16,602 COMMUNITY LIVING WORKS ON ITS 1078 00:41:16,602 --> 00:41:17,737 PRINCIPLES -- IT WAS ACTUALLY 1079 00:41:17,737 --> 00:41:19,939 CREATED AROUND THE FUNDAMENTAL 1080 00:41:19,939 --> 00:41:21,774 PRINCIPLE THAT OLDER ADULTS AND 1081 00:41:21,774 --> 00:41:23,476 PEOPLE OF ALL AGES WITH 1082 00:41:23,476 --> 00:41:25,878 DISABILITIES SHOULD BE ABLE TO 1083 00:41:25,878 --> 00:41:27,446 LIVE WHERE THEY CHOOSE, WITH THE 1084 00:41:27,446 --> 00:41:29,582 PEOPLE THEY CHOOSE, AND WITH THE 1085 00:41:29,582 --> 00:41:32,084 ABILITY TO PARTICIPATE FULLY IN 1086 00:41:32,084 --> 00:41:37,423 THEIR COMMUNITIES. 1087 00:41:37,423 --> 00:41:38,724 AND BY FUNDING SERVICES AND 1088 00:41:38,724 --> 00:41:40,593 SUPPORTS PROVIDED BY NETWORKS OF 1089 00:41:40,593 --> 00:41:42,295 COMMUNITY-BASED ORGANIZATIONS 1090 00:41:42,295 --> 00:41:44,130 AND WITH INVESTMENTS IN 1091 00:41:44,130 --> 00:41:47,500 RESEARCH, EDUCATION, AND 1092 00:41:47,500 --> 00:41:48,934 INNOVATION, ACL HELPS MAKE THIS 1093 00:41:48,934 --> 00:41:50,870 PRINCIPLE A REALITY FOR MILLIONS 1094 00:41:50,870 --> 00:41:58,411 OF PEOPLE WITH DISABILITIES. 1095 00:41:58,411 --> 00:41:59,712 SO NIDILRR'S MISSION IS TO 1096 00:41:59,712 --> 00:42:00,680 SUPPORT THE GENERATION OF NEW 1097 00:42:00,680 --> 00:42:02,315 KNOWLEDGE AND PROMOTE ITS 1098 00:42:02,315 --> 00:42:03,983 EFFECTIVE USE TO IMPROVE THE 1099 00:42:03,983 --> 00:42:07,219 ABILITIES OF INDIVIDUALS WITH 1100 00:42:07,219 --> 00:42:08,087 DISABILITIES, TO PARTICIPATE IN 1101 00:42:08,087 --> 00:42:10,890 COMMUNITY ACTIVITIES OF THEIR 1102 00:42:10,890 --> 00:42:15,094 CHOICE, AND ALSO TO ENHANCE 1103 00:42:15,094 --> 00:42:17,630 SOCIETY'S CAPACITY TO PROVIDE 1104 00:42:17,630 --> 00:42:20,166 OPPORTUNITIES AND ACCOMMODATIONS 1105 00:42:20,166 --> 00:42:20,599 FOR INDIVIDUALS WITH 1106 00:42:20,599 --> 00:42:25,738 DISABILITIES. 1107 00:42:25,738 --> 00:42:27,106 AS MANDATED BY THE 1108 00:42:27,106 --> 00:42:29,342 REHABILITATION ACT, NIDILRR IS 1109 00:42:29,342 --> 00:42:31,344 FOCUSED ON THE LONG TERM 1110 00:42:31,344 --> 00:42:33,212 OUTCOMES AND EXPERIENCES AND 1111 00:42:33,212 --> 00:42:34,914 NEEDS OF INDIVIDUALS WITH THE 1112 00:42:34,914 --> 00:42:39,952 MOST SIGNIFICANT DISABILITIES. 1113 00:42:39,952 --> 00:42:40,753 AND NIDILRR'S RESEARCH PROGRAMS 1114 00:42:40,753 --> 00:42:43,556 ARE INCLUSIVE OF ALL PEOPLE WITH 1115 00:42:43,556 --> 00:42:45,858 DISABILITIES ACROSS THE 1116 00:42:45,858 --> 00:42:46,258 LIFESPAN. 1117 00:42:46,258 --> 00:42:47,793 CHILDREN AND YOUTH, ADULTS, AND 1118 00:42:47,793 --> 00:42:50,096 OLDER ADULTS. 1119 00:42:50,096 --> 00:42:52,298 AND THIS MEANS IT'S ALL AGE 1120 00:42:52,298 --> 00:42:55,935 GROUPS AND ALL DISABILITY 1121 00:42:55,935 --> 00:43:01,040 POPULATIONS. 1122 00:43:01,040 --> 00:43:03,075 NIDILRR'S SPONSORED ACTIVITIES, 1123 00:43:03,075 --> 00:43:05,044 WE HAVE A VERY SMALL BUDGET 1124 00:43:05,044 --> 00:43:06,679 COMPARED TO SEVERAL NIH BUDGETS. 1125 00:43:06,679 --> 00:43:10,883 WE OPERATE WITH AN ANNUAL BUDGET 1126 00:43:10,883 --> 00:43:12,885 OF $119 MILLION. 1127 00:43:12,885 --> 00:43:14,387 AND OUR SPONSORED ACTIVITIES, 1128 00:43:14,387 --> 00:43:16,489 THERE ARE THREE FOCUS AREAS. 1129 00:43:16,489 --> 00:43:19,558 THE RESEARCH AND DEVELOPMENT, 1130 00:43:19,558 --> 00:43:20,993 CAPACITY BUILDING, AND KNOWLEDGE 1131 00:43:20,993 --> 00:43:25,531 TRANSLATION. 1132 00:43:25,531 --> 00:43:26,332 KNOWLEDGE TRANSLATION ACTIVITIES 1133 00:43:26,332 --> 00:43:28,934 CAN INCLUDE DISSEMINATION, 1134 00:43:28,934 --> 00:43:29,769 TRAINING, AND TECHNICAL 1135 00:43:29,769 --> 00:43:34,874 ASSISTANCE. 1136 00:43:34,874 --> 00:43:37,042 NIDILRR ALSO HAS THREE MAIN 1137 00:43:37,042 --> 00:43:38,878 OUTCOME DOMAINS, AND THEY 1138 00:43:38,878 --> 00:43:40,679 INCLUDE: COMMUNITY LIVING AND 1139 00:43:40,679 --> 00:43:42,515 PARTICIPATION, EMPLOYMENT, AND 1140 00:43:42,515 --> 00:43:46,085 HEALTH AND FUNCTION. 1141 00:43:46,085 --> 00:43:48,521 WHILE MOST FEDERAL RESEARCH 1142 00:43:48,521 --> 00:43:49,755 ENTITIES FOCUS ON THE PREVENTION 1143 00:43:49,755 --> 00:43:51,724 OR CURE OF CHRONIC CONDITIONS 1144 00:43:51,724 --> 00:43:54,427 AND DISABILITY, NIDILRR INVESTS 1145 00:43:54,427 --> 00:43:57,496 IN RESEARCH THAT IS TIED TO 1146 00:43:57,496 --> 00:43:58,631 IMPROVING LONG TERM OUTCOMES FOR 1147 00:43:58,631 --> 00:44:00,699 PEOPLE WITH DISABILITIES, 1148 00:44:00,699 --> 00:44:02,701 SPECIFICALLY IN THESE DOMAINS. 1149 00:44:02,701 --> 00:44:05,171 THE COMMUNITY LIVING AND 1150 00:44:05,171 --> 00:44:06,138 PARTICIPATION, EMPLOYMENT, AND 1151 00:44:06,138 --> 00:44:10,976 HEALTH AND FUNCTION. 1152 00:44:10,976 --> 00:44:12,378 NIDILRR ALSO EVERY FIVE YEARS 1153 00:44:12,378 --> 00:44:13,846 DRAFTS A LONG-RANGE PLAN WHICH 1154 00:44:13,846 --> 00:44:17,917 IS APPROVED BY THE 1155 00:44:17,917 --> 00:44:21,187 ADMINISTRATION, AND I THINK THE 1156 00:44:21,187 --> 00:44:22,655 RECENT ONE THAT'S GOING TO BE 1157 00:44:22,655 --> 00:44:26,425 PUBLISHED IS INITY FI IN ITS FIS 1158 00:44:26,425 --> 00:44:27,693 FOR BEING MADE PUBLICLY 1159 00:44:27,693 --> 00:44:31,297 ACCESSIBLE, BUT UNTIL THEN, THE 1160 00:44:31,297 --> 00:44:33,165 2018-2023 LONG RANGE PLAN TALKS 1161 00:44:33,165 --> 00:44:37,436 ABOUT THE TOLEDO M THREE DOMAINT 1162 00:44:37,436 --> 00:44:39,138 NIDILRR FOCUSES ON AND WHAT 1163 00:44:39,138 --> 00:44:41,040 ACTUALLY CONSTITUTES THOSE 1164 00:44:41,040 --> 00:44:41,774 TOLEDO MAINS. 1165 00:44:41,774 --> 00:44:43,542 FOR EXAMPLE, ON THE SLIDE I'VE 1166 00:44:43,542 --> 00:44:45,311 INCLUDED MEASUREMENT, 1167 00:44:45,311 --> 00:44:46,712 TRANSPORTATION ACCESS, 1168 00:44:46,712 --> 00:44:49,081 ACCESSIBLE HOMES, FAMILY 1169 00:44:49,081 --> 00:44:50,082 CAREGIVING, ALL FALL UNDER 1170 00:44:50,082 --> 00:44:52,318 COMMUNITY LIVING AND 1171 00:44:52,318 --> 00:44:53,319 PARTICIPATION. 1172 00:44:53,319 --> 00:44:54,753 THESE ARE EXAMPLES. 1173 00:44:54,753 --> 00:44:56,288 AND UNDER EMPLOYMENT, WE FOCUS 1174 00:44:56,288 --> 00:44:58,891 ON EMPLOYMENT STATISTICS, PEOPLE 1175 00:44:58,891 --> 00:45:01,760 WITH PSYCHIATRIC DISABILITY, 1176 00:45:01,760 --> 00:45:03,829 EMPLOYMENT DISINCENTIVES AND 1177 00:45:03,829 --> 00:45:04,964 EMPLOYER PRACTICES. 1178 00:45:04,964 --> 00:45:06,198 HEALTH AND FUNCTION INCLUDES 1179 00:45:06,198 --> 00:45:09,235 ADAPTATIONS OF EVIDENCE-BASED 1180 00:45:09,235 --> 00:45:09,768 PRACTICE/PROGRAMS, POLICY 1181 00:45:09,768 --> 00:45:12,004 IMPACTS ON HEALTHCARE SERVICES, 1182 00:45:12,004 --> 00:45:14,273 AND AGING INTO AND WITH 1183 00:45:14,273 --> 00:45:17,743 DISABILITY. 1184 00:45:17,743 --> 00:45:18,878 AND CROSS-CUTTING DOMAINS 1185 00:45:18,878 --> 00:45:20,646 INCLUDE TECHNOLOGY FOR ACCESS 1186 00:45:20,646 --> 00:45:22,581 AND FUNCTION AND CAN INCLUDE ANY 1187 00:45:22,581 --> 00:45:24,750 OF THE ABOVE TOLEDO MAINS THAT 1188 00:45:24,750 --> 00:45:29,121 I'VE JUST MENTIONED. 1189 00:45:29,121 --> 00:45:30,256 SORRY FOR THIS MESSY SLIDE. 1190 00:45:30,256 --> 00:45:33,325 I DON'T KNOW HOW THE FONT BECAME 1191 00:45:33,325 --> 00:45:35,861 SO LARGE, BUT JUST TO GIVE YOU 1192 00:45:35,861 --> 00:45:37,663 AN EXAMPLE OF RESEARCH GRANT 1193 00:45:37,663 --> 00:45:42,167 PROJECTS BY DOMAIN, WE HAVE 1194 00:45:42,167 --> 00:45:44,803 MOSTLY HEALTH AND FUNCTION, 34% 1195 00:45:44,803 --> 00:45:46,906 OF THE GRANT PROJECTS ARE IN THE 1196 00:45:46,906 --> 00:45:49,975 HEALTH AND FUNCTION DOMAIN, AND 1197 00:45:49,975 --> 00:45:51,277 THEN 35% -- I'M SORRY YOU'RE NOT 1198 00:45:51,277 --> 00:45:54,713 ABLE TO SEE THAT IN THAT GRAPH, 1199 00:45:54,713 --> 00:45:58,751 BUT 35% IS ABOUT CROSS-CUTTING, 1200 00:45:58,751 --> 00:46:01,854 WHICH MEANS THAT THESE PROJECTS 1201 00:46:01,854 --> 00:46:03,889 FOCUS ON TWO OR MORE DOMAINS. 1202 00:46:03,889 --> 00:46:05,190 THEY COULD BE COMMUNITY LIVING 1203 00:46:05,190 --> 00:46:07,059 AND PARTICIPATION OR EMPLOYMENT, 1204 00:46:07,059 --> 00:46:11,096 OR HEALTH AND FUNCTION. 1205 00:46:11,096 --> 00:46:14,533 AND ALSO TECHNOLOGY FOR ACCESS. 1206 00:46:14,533 --> 00:46:16,669 PARTICIPATION AND COMMUNITY 1207 00:46:16,669 --> 00:46:18,270 LIVING AND EMPLOYMENT ARE 17% 1208 00:46:18,270 --> 00:46:20,005 AND 14% RESPECTIVELY. 1209 00:46:20,005 --> 00:46:24,343 SO TO SUMMARIZE ACTUALLY, 69%, 1210 00:46:24,343 --> 00:46:27,513 ABOUT 69% OF OUR GRANT PROJECTS 1211 00:46:27,513 --> 00:46:29,381 FOCUS ON HEALTH AND FUNCTION AND 1212 00:46:29,381 --> 00:46:33,352 CROSS-CUTTING DOMAINS. 1213 00:46:33,352 --> 00:46:34,987 AND THESE ARE, AGAIN, THE 1214 00:46:34,987 --> 00:46:36,655 RESEARCH PROJECTS ARE DIFFERENT 1215 00:46:36,655 --> 00:46:39,091 FROM THE DEVELOPMENT PROJECTS 1216 00:46:39,091 --> 00:46:41,360 THAT NIDILRR FUNDS, AND HERE 1217 00:46:41,360 --> 00:46:43,596 AGAIN WITH THE DEVELOPMENT 1218 00:46:43,596 --> 00:46:45,864 PROJECTS, WE AGAIN HAVE HEALTH 1219 00:46:45,864 --> 00:46:48,567 AND FUNCTION IS 20%, BUT IF YOU 1220 00:46:48,567 --> 00:46:51,437 LOOK AT CROSS-CUTTING TWO OR 1221 00:46:51,437 --> 00:46:53,238 MORE DOMAINS, IT'S 49%. 1222 00:46:53,238 --> 00:46:56,675 AGAIN, WE HAVE THE SAME TREND OF 1223 00:46:56,675 --> 00:46:58,444 ABOUT 69% OF OUR DEVELOPMENT 1224 00:46:58,444 --> 00:47:02,081 PROJECTS FUNDED BY NIDILRR ARE 1225 00:47:02,081 --> 00:47:06,118 WITHIN THE DOU DOMAINS OF HEALTD 1226 00:47:06,118 --> 00:47:07,319 FUNCTION AND CROSS-CUTTING 1227 00:47:07,319 --> 00:47:08,554 DOMAINS WHICH INCLUDE HEALTH AND 1228 00:47:08,554 --> 00:47:10,189 FUNCTION, EMPLOYMENT, AND 1229 00:47:10,189 --> 00:47:10,889 PARTICIPATION IN COMMUNITY 1230 00:47:10,889 --> 00:47:16,695 LIVING. 1231 00:47:16,695 --> 00:47:20,065 SO NIDILRR HAS 11 GRANT 1232 00:47:20,065 --> 00:47:23,068 MECHANISMS AND I'VE LISTED THEM 1233 00:47:23,068 --> 00:47:24,937 HERE. 1234 00:47:24,937 --> 00:47:28,273 THEY VARY FROM THE 11TH ONE, THE 1235 00:47:28,273 --> 00:47:29,675 SWITZER RESEARCH FELLOWSHIP 1236 00:47:29,675 --> 00:47:30,609 PROJECTS, THAT'S FUNDING 1237 00:47:30,609 --> 00:47:33,545 PROVIDED TO AN INDIVIDUAL TO 1238 00:47:33,545 --> 00:47:34,713 REHABILITATION RESEARCH AND 1239 00:47:34,713 --> 00:47:35,614 TRAINING CENTERS. 1240 00:47:35,614 --> 00:47:39,318 THOSE ARE OUR HIGHLY FUNDED 1241 00:47:39,318 --> 00:47:40,386 RESEARCH INITIATIVES, RESEARCH 1242 00:47:40,386 --> 00:47:42,955 AND TRAINING INITIATIVES. 1243 00:47:42,955 --> 00:47:44,757 WE ALSO HAVE REHABILITATION 1244 00:47:44,757 --> 00:47:45,991 ENGINEERING RESEARCH CENTERS. 1245 00:47:45,991 --> 00:47:51,296 WE HAVE WHAT'S CALLED THE 1246 00:47:51,296 --> 00:47:52,331 DRRPs, THE DISABILITY AND 1247 00:47:52,331 --> 00:47:52,998 REHABILITATION RESEARCH 1248 00:47:52,998 --> 00:47:53,832 PROJECTS. 1249 00:47:53,832 --> 00:47:56,568 NIDILRR ALSO FUNDS MODEL SYSTEMS 1250 00:47:56,568 --> 00:47:59,805 OF CARE AND REHABILITATION FOR 1251 00:47:59,805 --> 00:48:01,974 TRAUMATIC INJURIES, SPINAL CORD 1252 00:48:01,974 --> 00:48:03,842 INJURY, TRAUMATIC BRAIN INJURY, 1253 00:48:03,842 --> 00:48:06,145 AND ALSO MAJOR BURN INJURIES. 1254 00:48:06,145 --> 00:48:08,313 WE FUND THE ADA NATIONAL 1255 00:48:08,313 --> 00:48:09,014 NETWORK. 1256 00:48:09,014 --> 00:48:11,083 WE HAVE FIELD-INITIATED 1257 00:48:11,083 --> 00:48:13,752 PROJECTS, WHICH ARE SLIGHTLY 1258 00:48:13,752 --> 00:48:19,925 SMALLER IN FUNDING AND ALSO THE 1259 00:48:19,925 --> 00:48:21,794 ACTUAL STRENGTH OF THE PROJECTS. 1260 00:48:21,794 --> 00:48:23,762 AND WE HAVE KNOWLEDGE 1261 00:48:23,762 --> 00:48:27,132 TRANSLATION CENTERS, AS 1262 00:48:27,132 --> 00:48:30,569 INDEPENDENT CENTERS, ALSO AS 1263 00:48:30,569 --> 00:48:33,305 CENTERS SERVING THE MODEL 1264 00:48:33,305 --> 00:48:35,007 SYSTEMS, WHICH ARE SPECIFIC TO 1265 00:48:35,007 --> 00:48:38,410 THE MODEL SYSTEM ACTIVITIES. 1266 00:48:38,410 --> 00:48:41,280 WE HAVE THE SBIRs, PHASE ONE 1267 00:48:41,280 --> 00:48:42,948 AND PHASE TWO. 1268 00:48:42,948 --> 00:48:44,183 SBIR IS THE SMALL BUSINESS 1269 00:48:44,183 --> 00:48:45,551 INNOVATION RESEARCH PROJECTS. 1270 00:48:45,551 --> 00:48:47,186 AND WE HAVE ADVANCED 1271 00:48:47,186 --> 00:48:48,854 REHABILITATION RESEARCH TRAINING 1272 00:48:48,854 --> 00:48:51,824 PROGRAMS, WHICH ARE FOCUSED ON 1273 00:48:51,824 --> 00:48:55,427 POSTDOCTORAL TRAINING FOR 1274 00:48:55,427 --> 00:48:57,463 PROFESSIONALS IN THE FIELD OF 1275 00:48:57,463 --> 00:48:58,797 REHABILITATION. 1276 00:48:58,797 --> 00:49:01,700 SO THESE ARE SEVERAL GRANT 1277 00:49:01,700 --> 00:49:03,202 MECHANISMS THAT NIDILRR FUNDS, 1278 00:49:03,202 --> 00:49:09,408 AND THERE ARE SOME THAT ARE 1279 00:49:09,408 --> 00:49:11,443 ANNOUNCED EVERY YEAR AND SOME 1280 00:49:11,443 --> 00:49:13,078 ARE -- SOME GO THROUGH THE THREE 1281 00:49:13,078 --> 00:49:16,115 AND THE FIVE-YEAR CYCLES. 1282 00:49:16,115 --> 00:49:17,483 THE FIELD-INITIATED PROJECTS ARE 1283 00:49:17,483 --> 00:49:19,084 ANNOUNCED EVERY YEAR AND, IN 1284 00:49:19,084 --> 00:49:21,353 FACT, THE APPLICATIONS ARE DUE 1285 00:49:21,353 --> 00:49:27,793 THIS COMING MONDAY. 1286 00:49:27,793 --> 00:49:29,661 JUST TO GIVE YOU A COMPARATIVE 1287 00:49:29,661 --> 00:49:30,562 UNDERSTANDING OF NIDILRR'S 1288 00:49:30,562 --> 00:49:33,232 PROGRAM TYPES WITH NIH, WE HAVE 1289 00:49:33,232 --> 00:49:37,569 THE DRRP, THE DISABILITY 1290 00:49:37,569 --> 00:49:38,604 RESEARCH REHABILITATION 1291 00:49:38,604 --> 00:49:39,705 PROJECTS, THE RE-ENGINEERING 1292 00:49:39,705 --> 00:49:41,039 RESEARCH TRAINING AND THE FIELD 1293 00:49:41,039 --> 00:49:43,142 INITIATED PROJECTS, AND THE 1294 00:49:43,142 --> 00:49:46,111 RETABL TAIREHABILITATION RESEARH 1295 00:49:46,111 --> 00:49:52,951 TRAINING, THEY ARE COMPARABLE TO 1296 00:49:52,951 --> 00:49:54,019 THE NIH R SERIES. 1297 00:49:54,019 --> 00:49:56,121 WE HAVE THE ARRT COMPARABLE TO 1298 00:49:56,121 --> 00:50:00,259 THE K SERIES, AND RRTC, THAT'S 1299 00:50:00,259 --> 00:50:03,028 THE RESEARCH TRAINING CENTERS, 1300 00:50:03,028 --> 00:50:06,398 THAT'S COMPARABLE TO THE T 1301 00:50:06,398 --> 00:50:08,567 SERIES. 1302 00:50:08,567 --> 00:50:10,536 SWITZER FELLOWSHIPS ARE, AGAIN, 1303 00:50:10,536 --> 00:50:12,504 THE F SERIES, VERY SIMILAR TO 1304 00:50:12,504 --> 00:50:13,839 THAT. 1305 00:50:13,839 --> 00:50:19,211 SO I CAN GO THROUGH THE PROGRAMS 1306 00:50:19,211 --> 00:50:20,612 IN BRIEF BUT IN THE INTEREST OF 1307 00:50:20,612 --> 00:50:21,747 TIME -- I'D LIKE TO SAVE SOME 1308 00:50:21,747 --> 00:50:23,816 TIME FOR QUESTIONS IF YOU ALL 1309 00:50:23,816 --> 00:50:24,650 HAVE ANY. 1310 00:50:24,650 --> 00:50:28,821 THE SWITZER FELLOWSHIP, LIKE I 1311 00:50:28,821 --> 00:50:30,622 MENTIONED, WE HAVE TWO 1312 00:50:30,622 --> 00:50:32,224 CATEGORIES THERE WITH THE MERIT 1313 00:50:32,224 --> 00:50:33,859 AND THE DISTINGUISHED 1314 00:50:33,859 --> 00:50:37,129 FELLOWSHIP, AND ALL THE 1315 00:50:37,129 --> 00:50:40,032 INFORMATION CAN BE -- I'LL SHARE 1316 00:50:40,032 --> 00:50:41,700 THE WEBSITE WHERE YOU CAN FIND 1317 00:50:41,700 --> 00:50:42,668 ADDITIONAL INFORMATION ON SOME 1318 00:50:42,668 --> 00:50:43,535 OF THESE PROGRAMS. 1319 00:50:43,535 --> 00:50:45,270 AGAIN, THIS IS THE 1320 00:50:45,270 --> 00:50:45,871 FIELD-INITIATED PROJECTS. 1321 00:50:45,871 --> 00:50:48,273 I SERVE AS THE COMPETITION 1322 00:50:48,273 --> 00:50:50,242 MANAGER FOR THEM, AND HERE 1323 00:50:50,242 --> 00:50:51,543 AGAIN, IT'S 1324 00:50:51,543 --> 00:50:53,145 INVESTIGATOR-INITIATED RESEARCH. 1325 00:50:53,145 --> 00:50:56,682 WE HAVE BOTH OUR RESEARCH AND 1326 00:50:56,682 --> 00:51:00,419 DEVELOPMENT CATEGORIES, AND IT'S 1327 00:51:00,419 --> 00:51:03,388 ABOUT 200,000 PER YEAR FOR THREE 1328 00:51:03,388 --> 00:51:04,323 YEARS. 1329 00:51:04,323 --> 00:51:06,792 WE HAVE THE DRRPs. 1330 00:51:06,792 --> 00:51:09,328 THESE ARE ANNOUNCED SOMETIMES 1331 00:51:09,328 --> 00:51:10,829 BASED ON THE DIRECTOR'S 1332 00:51:10,829 --> 00:51:11,563 DISCRETION. 1333 00:51:11,563 --> 00:51:12,965 SOME OF THE TOPICS ARE 1334 00:51:12,965 --> 00:51:13,932 PREDETERMINED. 1335 00:51:13,932 --> 00:51:16,034 SOMETIMES IT'S OPEN TO ANY TOPIC 1336 00:51:16,034 --> 00:51:18,537 IN THE FIELD OF REHABILITATION. 1337 00:51:18,537 --> 00:51:21,540 AND THIS IS $500,000 PER YEAR 1338 00:51:21,540 --> 00:51:24,009 FOR THREE TO FIVE YEARS. 1339 00:51:24,009 --> 00:51:27,179 AND SINCE THESE VARY, WHEN THE 1340 00:51:27,179 --> 00:51:27,880 NOTICE OF FUNDING OPPORTUNITIES 1341 00:51:27,880 --> 00:51:30,215 ARE ANNOUNCED, FURTHER 1342 00:51:30,215 --> 00:51:31,083 INFORMATION WILL BE SHARED AND 1343 00:51:31,083 --> 00:51:35,387 MADE PUBLIC. 1344 00:51:35,387 --> 00:51:38,490 AND THE ARRT, ADVANCED 1345 00:51:38,490 --> 00:51:39,791 REHABILITATION RESEARCH TRAINING 1346 00:51:39,791 --> 00:51:41,093 PROJECTS, THESE AGAIN, AS I 1347 00:51:41,093 --> 00:51:42,394 MENTIONED, ARE AT THE 1348 00:51:42,394 --> 00:51:44,930 POSTDOCTORAL LEVEL, AND THEY ARE 1349 00:51:44,930 --> 00:51:46,865 ANNOUNCED SPECIFICALLY WITH ALL 1350 00:51:46,865 --> 00:51:48,467 THE THREE DOMAINS THAT NIDILRR 1351 00:51:48,467 --> 00:51:51,536 FOCUSES ON: COMMUNITY, 1352 00:51:51,536 --> 00:51:53,138 PARTICIPATION AND LIVING, HEALTH 1353 00:51:53,138 --> 00:51:53,705 AND FUNCTION AND EMPLOYMENT. 1354 00:51:53,705 --> 00:51:55,007 SO WE HAVE SEPARATE AWARDS FOR 1355 00:51:55,007 --> 00:51:56,942 THESE PROJECTS. 1356 00:51:56,942 --> 00:51:59,344 AND THESE ARE, AGAIN, $200,000 1357 00:51:59,344 --> 00:51:59,645 PER YEAR. 1358 00:51:59,645 --> 00:52:01,580 IT'S A FIVE-YEAR AWARD AND, 1359 00:52:01,580 --> 00:52:04,950 AGAIN, IT'S COMPETED EVERY YEAR. 1360 00:52:04,950 --> 00:52:06,652 THE RESEARCH AND TRAINING 1361 00:52:06,652 --> 00:52:08,420 CENTERS, THESE ARE SOME OF OUR 1362 00:52:08,420 --> 00:52:09,388 BIGGER GRANTS. 1363 00:52:09,388 --> 00:52:11,657 THEY CONDUCT MULTIPLE RESEARCH 1364 00:52:11,657 --> 00:52:13,959 PROJECTS AT VARIOUS STAGES, AND 1365 00:52:13,959 --> 00:52:15,127 THEY'RE ALSO REQUIRED TO ENGAGE 1366 00:52:15,127 --> 00:52:18,964 IN RESEARCH AS WELL AS TRAINING, 1367 00:52:18,964 --> 00:52:19,798 DISSEMINATION, AND TECHNICAL 1368 00:52:19,798 --> 00:52:20,732 ASSISTANCE. 1369 00:52:20,732 --> 00:52:25,003 THEY ARE ALSO COMPETED EVERY 1370 00:52:25,003 --> 00:52:28,807 YEAR, AND IT'S $850,000 PER YEAR 1371 00:52:28,807 --> 00:52:29,641 ON AVERAGE, AND THEY'RE 1372 00:52:29,641 --> 00:52:30,409 FIVE-YEAR AWARDS. 1373 00:52:30,409 --> 00:52:32,978 I THINK WE NOW CURRENTLY HAVE 1374 00:52:32,978 --> 00:52:38,483 ABOUT 29 ACTIVE RRTCs. 1375 00:52:38,483 --> 00:52:39,885 AND WE HAVE THE ENGINEERING 1376 00:52:39,885 --> 00:52:41,086 RESEARCH CENTERS AS WELL. 1377 00:52:41,086 --> 00:52:42,654 THESE FOCUS ON ADVANCED RESEARCH 1378 00:52:42,654 --> 00:52:44,323 AND DEVELOPMENT OF AN 1379 00:52:44,323 --> 00:52:46,458 ENGINEERING OR TECHNICAL NATURE 1380 00:52:46,458 --> 00:52:46,758 PROJECTS. 1381 00:52:46,758 --> 00:52:48,260 THESE ARE, AGAIN, HAVING 1382 00:52:48,260 --> 00:52:52,764 MULTIPLE PROJECTS PROPOSED 1383 00:52:52,764 --> 00:52:54,766 WITHIN ONE APPLICATION. 1384 00:52:54,766 --> 00:52:57,502 AND SOME ARE AGENCY-INITIATED, 1385 00:52:57,502 --> 00:52:58,937 SOME ARE FIELD-INITIATED IN 1386 00:52:58,937 --> 00:53:01,840 BROAD AREAS OF REHABILITATION 1387 00:53:01,840 --> 00:53:02,574 ENGINEERING. 1388 00:53:02,574 --> 00:53:06,011 AGAIN, IT'S $925,000 PER YEAR 1389 00:53:06,011 --> 00:53:07,879 FOR FIVE YEARS. 1390 00:53:07,879 --> 00:53:09,181 WE AWARD TWO TO FIVE PER YEAR, 1391 00:53:09,181 --> 00:53:12,384 AND WE HAVE ABOUT 24 ACTIVE RERC 1392 00:53:12,384 --> 00:53:14,686 GRANTS NOW. 1393 00:53:14,686 --> 00:53:17,255 AND THE MODEL SYSTEMS PROGRAMS, 1394 00:53:17,255 --> 00:53:19,825 AGAIN, THEY'RE VERY SPECIFIC TO 1395 00:53:19,825 --> 00:53:21,226 THE THREE TRAUMATIC INJURIES I 1396 00:53:21,226 --> 00:53:23,929 MENTIONED EARLIER. 1397 00:53:23,929 --> 00:53:27,766 WE ALSO HAVE THE SBIRs, PHASE 1398 00:53:27,766 --> 00:53:29,034 ONE AND PHASE TWO. 1399 00:53:29,034 --> 00:53:30,502 THESE ARE ALSO COMPETED EACH 1400 00:53:30,502 --> 00:53:32,204 YEAR, AND THEY HAVE ABOUT -- FOR 1401 00:53:32,204 --> 00:53:35,540 THE PHASE ONE, WE FUND ABOUT 1402 00:53:35,540 --> 00:53:37,342 $100,000 FOR SIX MONTHS, AND FOR 1403 00:53:37,342 --> 00:53:39,611 PHASE TWO, IT'S ABOUT 200 TO 1404 00:53:39,611 --> 00:53:41,113 $300,000 PER YEAR, AND IT'S AN 1405 00:53:41,113 --> 00:53:44,883 AWARD FOR TWO YEARS. 1406 00:53:44,883 --> 00:53:46,418 SO THIS IS THE WEBSITE. 1407 00:53:46,418 --> 00:53:48,487 IT'S VERY SIMILAR TO THE NIH 1408 00:53:48,487 --> 00:53:49,321 REPORTER. 1409 00:53:49,321 --> 00:53:50,722 IT'S AN INTERACTIVE DATABASE. 1410 00:53:50,722 --> 00:53:53,325 IT'S A SEARCHABLE DATABASE. 1411 00:53:53,325 --> 00:53:56,061 YOU COULD SIGN IN TO NARIC, 1412 00:53:56,061 --> 00:53:57,596 WHICH STANDS FOR NATIONAL 1413 00:53:57,596 --> 00:53:58,130 REHABILITATION INFORMATION 1414 00:53:58,130 --> 00:54:01,466 CENTER. 1415 00:54:01,466 --> 00:54:01,833 NARIC.COM. 1416 00:54:01,833 --> 00:54:03,869 AND YOU CAN TYPE IN YOUR 1417 00:54:03,869 --> 00:54:05,837 KEYWORDS AND GET THE INFORMATION 1418 00:54:05,837 --> 00:54:09,274 THAT YOU'RE SEEKING, WHETHER IT 1419 00:54:09,274 --> 00:54:11,510 IS FOR FUNDING MECHANISMS OR 1420 00:54:11,510 --> 00:54:14,212 PUBLICATIONS OR CURRENTLY 1421 00:54:14,212 --> 00:54:15,781 ONGOING RESEARCH PROJECTS, 1422 00:54:15,781 --> 00:54:17,516 DISSEMINATION OR TRAINING 1423 00:54:17,516 --> 00:54:19,851 PROJECTS, AND EVEN COMPLETED 1424 00:54:19,851 --> 00:54:20,118 PROJECTS. 1425 00:54:20,118 --> 00:54:23,789 SO YOU CAN FIND STUDIES THAT 1426 00:54:23,789 --> 00:54:25,190 WERE FUNDED -- PROJECTS THAT 1427 00:54:25,190 --> 00:54:27,559 WERE FUNDED EVEN IN THE 1980s, 1428 00:54:27,559 --> 00:54:33,198 WHEN NIDILRR WAS NIDIR AND 1429 00:54:33,198 --> 00:54:35,967 BEFORE IT WAS HHS, IT WAS PART 1430 00:54:35,967 --> 00:54:36,568 OF DEPARTMENT OF ED. 1431 00:54:36,568 --> 00:54:38,737 YOU STILL HAVE HISTORICAL -- 1432 00:54:38,737 --> 00:54:39,938 IT'S A LOG OF ALL THE STUDIES 1433 00:54:39,938 --> 00:54:43,942 THAT WERE FUNDED BY NIDILRR. 1434 00:54:43,942 --> 00:54:46,912 SO THIS BRINGS ME TO THE END OF 1435 00:54:46,912 --> 00:54:47,712 MY PRESENTATION. 1436 00:54:47,712 --> 00:54:50,882 JUST BEFORE I END, IF YOU DO A 1437 00:54:50,882 --> 00:54:53,251 SEARCH ON NARIC, AND IF YOU 1438 00:54:53,251 --> 00:54:56,421 SEARCH BY THE KEYWORD "MUSCULAR 1439 00:54:56,421 --> 00:54:59,391 DYSTROPHY," WE HAVE NOT FOCUSED 1440 00:54:59,391 --> 00:55:01,793 SPECIFICALLY ON MUSCULAR 1441 00:55:01,793 --> 00:55:03,695 DYSTROPHY PROJECT, BUT THERE 1442 00:55:03,695 --> 00:55:05,197 HAVE BEEN SEVERAL PROJECTS THAT 1443 00:55:05,197 --> 00:55:07,999 HAVE LOOKED AT THE POPULATION, 1444 00:55:07,999 --> 00:55:10,235 LOOKED AT THE CLINICAL 1445 00:55:10,235 --> 00:55:11,303 POPULATION IN SOME OF THEIR 1446 00:55:11,303 --> 00:55:13,271 BIGGER STUDIES LIKE COMPARING IT 1447 00:55:13,271 --> 00:55:18,310 WITH OTHER SIMILAR OR OTHER 1448 00:55:18,310 --> 00:55:19,511 ISSUES IN TERMS OF COMMUNITY 1449 00:55:19,511 --> 00:55:22,547 LIVING AND PARTICIPATION, AND IN 1450 00:55:22,547 --> 00:55:24,216 TERMS OF TECHNOLOGY FOR ACCESS, 1451 00:55:24,216 --> 00:55:26,585 AND, IN FACT, WE HAVE ONE 1452 00:55:26,585 --> 00:55:30,222 CURRENTLY FUNDED RERC, IT'S A 1453 00:55:30,222 --> 00:55:33,792 REHAB ENGINEERING RESEARCH 1454 00:55:33,792 --> 00:55:38,763 CENTER, AND THEY ARE HAVING -- 1455 00:55:38,763 --> 00:55:41,500 YOU WILL FIND -- THEY'RE WORKING 1456 00:55:41,500 --> 00:55:43,935 ON SOME VARIABLE TECHNOLOGY, THE 1457 00:55:43,935 --> 00:55:45,470 ROBOTICS AND EXOSKELETONS, AND 1458 00:55:45,470 --> 00:55:46,605 THERE'S A LOT OF WORK BEING DONE 1459 00:55:46,605 --> 00:55:47,472 ON THAT. 1460 00:55:47,472 --> 00:55:50,008 AND THEY HAVE INCLUDED SOME 1461 00:55:50,008 --> 00:55:53,478 TRIALS, AND THERE IS SOME DATA 1462 00:55:53,478 --> 00:55:54,779 AVAILABLE ON THE SUBPOPULATION 1463 00:55:54,779 --> 00:55:56,281 THAT THEY ARE LOOKING AT. 1464 00:55:56,281 --> 00:55:59,251 SO WE WOULD LIKE TO INCREASE 1465 00:55:59,251 --> 00:56:01,052 THIS AWARENESS MORE, SO I'M 1466 00:56:01,052 --> 00:56:04,756 HOPING THAT EVEN FOR THE EARLIER 1467 00:56:04,756 --> 00:56:06,725 SPEAKER I THINK WAS JUNE WHO WAS 1468 00:56:06,725 --> 00:56:08,493 TALKING ABOUT CLINICAL TRIALS 1469 00:56:08,493 --> 00:56:11,563 THAT WERE -- YOU'RE NOT ABLE TO 1470 00:56:11,563 --> 00:56:13,965 INCLUDE SOME OF THE PEOPLE THAT 1471 00:56:13,965 --> 00:56:17,335 YOU WOULD LIKE TO, I THINK THIS 1472 00:56:17,335 --> 00:56:20,605 MIGHT BE A GOOD CHANNEL FOR 1473 00:56:20,605 --> 00:56:22,908 PROPOSING OR TO EVEN SHARE THIS 1474 00:56:22,908 --> 00:56:24,543 INFORMATION WITHIN YOUR NETWORKS 1475 00:56:24,543 --> 00:56:27,412 TO MAKE SURE THAT THESE FUNDING 1476 00:56:27,412 --> 00:56:30,348 OPPORTUNITIES ARE UTILIZED AND 1477 00:56:30,348 --> 00:56:33,385 APPLICATIONS COME IN AND IT 1478 00:56:33,385 --> 00:56:34,920 FALLS WELL WITHIN THE PURVIEW OF 1479 00:56:34,920 --> 00:56:37,088 COMMUNITY LIVING AND 1480 00:56:37,088 --> 00:56:39,191 PARTICIPATION AND EVEN 1481 00:56:39,191 --> 00:56:40,425 TECHNOLOGY FOR ACCESS, WITH SO 1482 00:56:40,425 --> 00:56:41,660 MUCH OF WORK THAT'S BEING DONE 1483 00:56:41,660 --> 00:56:44,696 TO MAKE THE LIVES OF PEOPLE WITH 1484 00:56:44,696 --> 00:56:46,865 DISABILITIES TO BE A LITTLE MORE 1485 00:56:46,865 --> 00:56:49,768 EASIER AND TO BE ABLE TO LIVE IN 1486 00:56:49,768 --> 00:56:51,369 THE COMMUNITY, LIVE 1487 00:56:51,369 --> 00:56:52,504 INDEPENDENTLY AND TO ALSO 1488 00:56:52,504 --> 00:56:53,905 PARTICIPATE IN THE COMMUNITY. 1489 00:56:53,905 --> 00:56:58,176 SO THERE ARE SEVERAL PROJECT 1490 00:56:58,176 --> 00:56:59,244 OFFICERS WHO WOULD BE MORE THAN 1491 00:56:59,244 --> 00:57:00,979 HAPPY TO TALK WITH YOU ALL. 1492 00:57:00,979 --> 00:57:02,581 WE SHARE OUR INFORMATION. 1493 00:57:02,581 --> 00:57:07,986 PLEASE REACH OUT TO ME AND I CAN 1494 00:57:07,986 --> 00:57:09,354 FORWARD YOUR INFORMATION TO THE 1495 00:57:09,354 --> 00:57:11,723 RIGHT SOURCE, AND I CAN ALSO 1496 00:57:11,723 --> 00:57:13,725 ENGAGE IN ANY CONVERSATION YOU 1497 00:57:13,725 --> 00:57:15,026 ARE WANTING TO GET INFORMATION 1498 00:57:15,026 --> 00:57:15,594 ON. 1499 00:57:15,594 --> 00:57:18,797 THANK YOU SO MUCH FOR YOUR TIE. 1500 00:57:18,797 --> 00:57:21,967 >> THANK YOU SO MUCH, 1501 00:57:21,967 --> 00:57:22,534 DR. HOLAVANAHALLI. 1502 00:57:22,534 --> 00:57:25,337 AND I REALLY APPRECIATED YOUR 1503 00:57:25,337 --> 00:57:26,071 OVERVIEW OF NIDILRR. 1504 00:57:26,071 --> 00:57:28,840 THAT WAS REALLY VERY 1505 00:57:28,840 --> 00:57:31,109 INFORMATIVE, AND WE'RE TRULY 1506 00:57:31,109 --> 00:57:32,410 APPRECIATIVE OF THE PERSPECTIVE 1507 00:57:32,410 --> 00:57:34,179 AND THE EXPERTISE THAT YOU ARE 1508 00:57:34,179 --> 00:57:36,548 GOING TO BRING TO OUR COMMITTEE. 1509 00:57:36,548 --> 00:57:38,183 I THINK WE HAVE TIME FOR ONE OR 1510 00:57:38,183 --> 00:57:42,921 TWO QUESTIONS. 1511 00:57:42,921 --> 00:57:44,356 DR. NUCKOLLS. 1512 00:57:44,356 --> 00:57:46,091 >> THANKS FOR YOUR PRESENTATION. 1513 00:57:46,091 --> 00:57:48,994 SO I'M CURIOUS, ARE THERE 1514 00:57:48,994 --> 00:57:51,296 FEATURES OF A REHABILITATION 1515 00:57:51,296 --> 00:57:53,465 RESEARCH GRANT APPLICATION THAT 1516 00:57:53,465 --> 00:57:56,167 WOULD CAUSE TO BE A BETTER FIT 1517 00:57:56,167 --> 00:58:00,739 FOR NIDILRR RELATIVE TO THE 1518 00:58:00,739 --> 00:58:03,241 NICHD REHABILITATION CENTER? 1519 00:58:03,241 --> 00:58:06,611 >> SO WE DO HAVE THE PRIORITIES 1520 00:58:06,611 --> 00:58:09,047 WHEN WE ANNOUNCE OUR FINAL 1521 00:58:09,047 --> 00:58:10,915 PRIORITY, WE DO MAKE SURE THAT 1522 00:58:10,915 --> 00:58:12,350 THERE ARE CERTAIN BASIC THINGS 1523 00:58:12,350 --> 00:58:17,255 THAT WE ARE LOOKING FOR IN ANY 1524 00:58:17,255 --> 00:58:17,822 APPLICATION. 1525 00:58:17,822 --> 00:58:19,824 FOR EXAMPLE, EQUITY, 1526 00:58:19,824 --> 00:58:21,760 INTERSECTIONALITY, AND HOW IT 1527 00:58:21,760 --> 00:58:23,194 APPLIES TO THE DISABILITY 1528 00:58:23,194 --> 00:58:26,498 POPULATION, AND WE ALSO HAVE A 1529 00:58:26,498 --> 00:58:27,932 LIST OF SELECTION CRITERIA WHICH 1530 00:58:27,932 --> 00:58:30,669 I CAN SHARE WITH YOU. 1531 00:58:30,669 --> 00:58:35,206 OF COURSE THESE ARE ALL REVIEWED 1532 00:58:35,206 --> 00:58:39,411 AND SCORED BY PEERS WHO ARE 1533 00:58:39,411 --> 00:58:40,412 EXPERTS IN THE FIELD. 1534 00:58:40,412 --> 00:58:44,249 AND SO WE DO HAVE -- IF IT IS 1535 00:58:44,249 --> 00:58:45,350 SPECIFICALLY ANNOUNCED WITH A 1536 00:58:45,350 --> 00:58:47,018 TOPIC AREA, THEN WE WILL PROVIDE 1537 00:58:47,018 --> 00:58:47,752 MORE DETAILS. 1538 00:58:47,752 --> 00:58:50,288 IF NOT, IT JUST GETS COMBINED 1539 00:58:50,288 --> 00:58:52,757 INTO THE GENERAL DISABILITY 1540 00:58:52,757 --> 00:58:53,558 APPLICATION. 1541 00:58:53,558 --> 00:58:55,260 BUT THE FIELD INITIATED 1542 00:58:55,260 --> 00:58:57,829 PROJECTS, THAT MECHANISM HAS 1543 00:58:57,829 --> 00:59:00,198 DRAWN APPLICATIONS FROM MANY 1544 00:59:00,198 --> 00:59:04,402 DIFFERENT AREAS OF DISABILITY 1545 00:59:04,402 --> 00:59:05,870 AND MANY DIFFERENT CLINICAL 1546 00:59:05,870 --> 00:59:06,271 SUBPOPULATIONS. 1547 00:59:06,271 --> 00:59:10,041 SO THAT WOULD BE A GREAT 1548 00:59:10,041 --> 00:59:10,442 RESOURCE. 1549 00:59:10,442 --> 00:59:14,746 THAT WOULD BE A GREAT VENUE FOR 1550 00:59:14,746 --> 00:59:17,749 PROJECTS THAT START OFF AS, SAY, 1551 00:59:17,749 --> 00:59:20,385 EXPLORATORY IN NATURE, AND THEN 1552 00:59:20,385 --> 00:59:21,853 TO BUILD UPON THAT AND TO TAKE 1553 00:59:21,853 --> 00:59:24,789 TO THE NEXT LEVEL OF, SAY, 1554 00:59:24,789 --> 00:59:26,024 CLINICAL TRIALS AND, YOU KNOW, 1555 00:59:26,024 --> 00:59:28,693 COMPARATIVE STUDIES ACROSS 1556 00:59:28,693 --> 00:59:31,196 CENTERS AND ACROSS DIFFERENT 1557 00:59:31,196 --> 00:59:31,796 POPULATIONS. 1558 00:59:31,796 --> 00:59:34,999 AND SO IT JUST -- IT CAN 1559 00:59:34,999 --> 00:59:36,568 TRANSITION, THAT MECHANISM IS 1560 00:59:36,568 --> 00:59:39,571 THERE, AND THE SWITZER 1561 00:59:39,571 --> 00:59:40,605 FELLOWSHIP IS ANOTHER WAY TO 1562 00:59:40,605 --> 00:59:43,074 BUILD CAPACITY IN THE FIELD BY 1563 00:59:43,074 --> 00:59:44,476 ENCOURAGING INDIVIDUAL 1564 00:59:44,476 --> 00:59:46,344 RESEARCHERS TO APPLY FOR THE 1565 00:59:46,344 --> 00:59:48,413 FELLOWSHIP AND TO WORK IN THE 1566 00:59:48,413 --> 00:59:50,148 AREA. 1567 00:59:50,148 --> 00:59:52,283 SO DIFFERENT MECHANISMS WORK 1568 00:59:52,283 --> 00:59:56,154 DIFFERENTLY AS YOU ALREADY KNOW. 1569 00:59:56,154 --> 00:59:57,589 WITHIN NIDILRR ITSELF, I THINK 1570 00:59:57,589 --> 00:59:59,257 THE BEST MECHANISM TO START 1571 00:59:59,257 --> 01:00:01,059 FOCUS IN THIS AREA WOULD BE THE 1572 01:00:01,059 --> 01:00:04,262 FIELD INITIATED AND ALSO THE 1573 01:00:04,262 --> 01:00:04,662 SWITZERS. 1574 01:00:04,662 --> 01:00:06,765 I HOPE I ANSWERED YOUR QUESTION. 1575 01:00:06,765 --> 01:00:07,599 SORRY ABOUT THE LONG WINDED 1576 01:00:07,599 --> 01:00:07,832 ANSWER. 1577 01:00:07,832 --> 01:00:10,368 >> THANK YOU. 1578 01:00:10,368 --> 01:00:13,738 DR. KOROSHETZ. 1579 01:00:13,738 --> 01:00:16,207 >> I JUST HAVE A KIND OF IN THE 1580 01:00:16,207 --> 01:00:17,642 WEEDS QUESTION. 1581 01:00:17,642 --> 01:00:19,811 THE APPLICATION DATES FOR THESE 1582 01:00:19,811 --> 01:00:22,380 GRANTS, HOW FREQUENT DO THEY 1583 01:00:22,380 --> 01:00:23,848 OCCUR? 1584 01:00:23,848 --> 01:00:25,049 >> SO THEY ALL HAVE DIFFERENT 1585 01:00:25,049 --> 01:00:25,550 CYCLES. 1586 01:00:25,550 --> 01:00:28,019 SOME OF THEM, WE COMPETE 1587 01:00:28,019 --> 01:00:29,988 ANNUALLY, AND THOSE ARE ALL 1588 01:00:29,988 --> 01:00:31,489 TYPICALLY COMING OUT NOW, 1589 01:00:31,489 --> 01:00:35,260 THEY'VE STARTED, WE JUST HAD 1590 01:00:35,260 --> 01:00:37,796 ANNOUNCED THE SBIRs AND THE 1591 01:00:37,796 --> 01:00:39,931 SWITZERS, I THINK THE SWITZERS 1592 01:00:39,931 --> 01:00:42,700 ARE DUE COMING UP IN JANUARY, 1593 01:00:42,700 --> 01:00:44,402 BUT THE FIELD-INITIATED PROJECTS 1594 01:00:44,402 --> 01:00:45,970 ARE DUE ON MONDAY, AND SO THESE 1595 01:00:45,970 --> 01:00:49,207 ARE ALL TYPICALLY ANNOUNCED IN 1596 01:00:49,207 --> 01:00:51,276 THE MONTH OF OCTOBER OF EACH 1597 01:00:51,276 --> 01:00:51,476 YEAR. 1598 01:00:51,476 --> 01:00:53,511 WHETHER IT'S THE ANNUAL ONES OR 1599 01:00:53,511 --> 01:00:55,780 EVEN THE THREE OR THE FIVE-YEAR 1600 01:00:55,780 --> 01:00:57,248 COMPETITIVE CYCLES, COMPETITION 1601 01:00:57,248 --> 01:01:01,719 CYCLES ARE ALL ANNOUNCED DURING 1602 01:01:01,719 --> 01:01:02,520 OCTOBER. 1603 01:01:02,520 --> 01:01:05,723 >> SO I GUESS I WAS THINKING 1604 01:01:05,723 --> 01:01:07,425 WHETHER OR NOT WE COULD HELP -- 1605 01:01:07,425 --> 01:01:09,194 WHETHER IT WOULD BE OF VALUE FOR 1606 01:01:09,194 --> 01:01:12,931 US TO HELP PUT THIS OUT IN OUR 1607 01:01:12,931 --> 01:01:14,365 SOCIAL MEDIA TO OUR GRANTEES TO 1608 01:01:14,365 --> 01:01:16,067 KNOW ABOUT THESE PROGRAMS. 1609 01:01:16,067 --> 01:01:17,168 >> DEFINITELY. 1610 01:01:17,168 --> 01:01:18,303 THAT WOULD BE REALLY HELPFUL, 1611 01:01:18,303 --> 01:01:21,406 AND I THINK NIDILRR WOULD LOVE 1612 01:01:21,406 --> 01:01:23,942 THAT, AND WE DO ENGAGE IN 1613 01:01:23,942 --> 01:01:24,976 CAPACITY BUILDING AT ALL LEVELS, 1614 01:01:24,976 --> 01:01:27,178 SO I THINK THAT COULD BE A GREAT 1615 01:01:27,178 --> 01:01:31,149 WAY TO PROMOTE THIS AND MAKE 1616 01:01:31,149 --> 01:01:32,884 THIS INFORMATION ACCESSIBLE AND 1617 01:01:32,884 --> 01:01:36,287 KNOWN TO A LOT OF FOLKS. 1618 01:01:36,287 --> 01:01:38,256 >> SO NEXT OCTOBER. 1619 01:01:38,256 --> 01:01:39,290 >> YES. 1620 01:01:39,290 --> 01:01:40,758 AND THERE ARE SOME THAT HAVE NOT 1621 01:01:40,758 --> 01:01:43,161 YET BEEN ANNOUNCED, AND I CAN 1622 01:01:43,161 --> 01:01:45,029 SEND YOU AN EMAIL AND GIVE YOU 1623 01:01:45,029 --> 01:01:48,800 AN UPDATE OF THAT. 1624 01:01:48,800 --> 01:01:49,434 >> THANK YOU. 1625 01:01:49,434 --> 01:01:50,101 OKAY. 1626 01:01:50,101 --> 01:01:54,539 LAST QUESTION FROM DAN PEREZ. 1627 01:01:54,539 --> 01:01:56,741 >> YES. 1628 01:01:56,741 --> 01:01:58,710 EXCELLENT PRESENTATION. 1629 01:01:58,710 --> 01:02:02,580 I WAS CURIOUS TO GET YOUR 1630 01:02:02,580 --> 01:02:07,385 THOUGHT ON WHETHER -- WHAT TYPES 1631 01:02:07,385 --> 01:02:12,824 OF RESEARCH IN ADULT AND 1632 01:02:12,824 --> 01:02:16,661 PEDIATRIC MUSCULAR DYSTROPHY 1633 01:02:16,661 --> 01:02:22,300 YOUR INSTITUTE WOULD BE BEST 1634 01:02:22,300 --> 01:02:27,438 SUITED TO FUND. 1635 01:02:27,438 --> 01:02:30,742 SO WHAT KIND OF PROJECTS DO YOU 1636 01:02:30,742 --> 01:02:33,845 THINK WOULD BE AN EXCELLENT FIT 1637 01:02:33,845 --> 01:02:37,849 FOR YOUR INSTITUTE? 1638 01:02:37,849 --> 01:02:40,351 JUST A FEW KIND OF SUGGESTIONS, 1639 01:02:40,351 --> 01:02:43,655 MOVING AWAY FROM THE MECHANICS 1640 01:02:43,655 --> 01:02:48,826 OF GRANTS AND FUNDING CHANNELS, 1641 01:02:48,826 --> 01:02:50,094 JUST CURIOUS TO KNOW WHAT TYPES 1642 01:02:50,094 --> 01:02:53,565 OF THINGS YOU FEEL THAT YOUR 1643 01:02:53,565 --> 01:02:57,702 INSTITUTE COULD REALLY ADVANCE 1644 01:02:57,702 --> 01:03:02,840 KNOWLEDGE IN MUSCULAR DYSTROPHY? 1645 01:03:02,840 --> 01:03:08,513 >> SO NIDILRR IS HUGE INVOLVING 1646 01:03:08,513 --> 01:03:11,883 STAKEHOLDERS AT ALL LEVELS, 1647 01:03:11,883 --> 01:03:14,752 RIGHT FROM THE DECISION OF A 1648 01:03:14,752 --> 01:03:17,388 TOPIC FOR A RESEARCH STUDY TO 1649 01:03:17,388 --> 01:03:20,158 HOW THAT CAN BE CARRIED OUT, AND 1650 01:03:20,158 --> 01:03:22,327 HOW IT IS GOING TO SERVE THE 1651 01:03:22,327 --> 01:03:24,629 NEEDS OF PEOPLE WITH 1652 01:03:24,629 --> 01:03:27,966 DISABILITIES, AND WE ARE LOOKING 1653 01:03:27,966 --> 01:03:33,338 FOR ALL PROJECTS TO MAKE IT 1654 01:03:33,338 --> 01:03:34,806 CLEAR THAT THEY ARE WORKING WITH 1655 01:03:34,806 --> 01:03:36,474 PEOPLE WITH DISABILITY IN TERMS 1656 01:03:36,474 --> 01:03:37,942 OF -- AT ALL STAGES OF THEIR 1657 01:03:37,942 --> 01:03:40,144 RESEARCH OR DEVELOPMENT. 1658 01:03:40,144 --> 01:03:41,546 AND I'M NOT SURE IF I'M 1659 01:03:41,546 --> 01:03:42,580 ANSWERING YOUR QUESTION RIGHT. 1660 01:03:42,580 --> 01:03:52,991 IS THAT WHAT YOU MEANT? 1661 01:03:55,560 --> 01:03:55,660 DAN? 1662 01:03:55,660 --> 01:03:55,893 >> YES. 1663 01:03:55,893 --> 01:04:05,269 I WAS GOING TO SAY, JUST -- IT 1664 01:04:05,269 --> 01:04:08,239 DOESN'T QUITE ANSWER MY QUEST 1665 01:04:08,239 --> 01:04:09,540 QUESTION. 1666 01:04:09,540 --> 01:04:11,342 I'M NOT SAYING -- SPECIFICALLY, 1667 01:04:11,342 --> 01:04:16,881 WHICH I KNOW IS GENERALLY -- THE 1668 01:04:16,881 --> 01:04:21,919 ANSWER, I WAS JUST WONDERING, 1669 01:04:21,919 --> 01:04:23,421 YES I TAKE SUCH AND SUCH AND 1670 01:04:23,421 --> 01:04:25,123 SUCH WOULD BE A GREAT THING FOR 1671 01:04:25,123 --> 01:04:32,563 OUR INSTITUTE TO UNDERTAKE. 1672 01:04:32,563 --> 01:04:39,037 SO -- AN OFFLINE DISCUSSION. 1673 01:04:39,037 --> 01:04:39,370 SO THANK YOU. 1674 01:04:39,370 --> 01:04:39,971 >> THANK YOU. 1675 01:04:39,971 --> 01:04:41,639 >> OKAY. 1676 01:04:41,639 --> 01:04:42,974 THANK YOU, EVERYONE, FOR YOUR 1677 01:04:42,974 --> 01:04:44,275 QUESTIONS. 1678 01:04:44,275 --> 01:04:45,576 NEXT WE'RE GOING TO HAVE A 1679 01:04:45,576 --> 01:04:49,414 SERIES OF SHORT PRESENTATIONS 1680 01:04:49,414 --> 01:04:50,314 SUMMARIZING RECENT CONFERENCES 1681 01:04:50,314 --> 01:04:53,751 AND WORKSHOPS OF INTEREST TO THE 1682 01:04:53,751 --> 01:04:55,553 MUSCULAR DYSTROPHY COMMUNITIES. 1683 01:04:55,553 --> 01:04:58,723 THE FIRST PRESENTATION IS FROM 1684 01:04:58,723 --> 01:05:00,425 DR. CAROL TAYLOR-BURDS, WHO IS A 1685 01:05:00,425 --> 01:05:03,928 PROGRAM DIRECTOR AT NINDS. 1686 01:05:03,928 --> 01:05:05,029 SHE'S GOING TO TELL US ABOUT A 1687 01:05:05,029 --> 01:05:07,165 RECENT WORKSHOP ORGANIZED BY 1688 01:05:07,165 --> 01:05:10,101 SEVERAL NIH INSTITUTES ON 1689 01:05:10,101 --> 01:05:17,008 DIGITAL HEALTH OUTCOMES. 1690 01:05:17,008 --> 01:05:17,575 CAROL, ARE YOU WITH US? 1691 01:05:17,575 --> 01:05:18,309 >> I AM HERE. 1692 01:05:18,309 --> 01:05:19,177 CAN YOU HEAR ME? 1693 01:05:19,177 --> 01:05:19,477 >> YES. 1694 01:05:19,477 --> 01:05:19,844 THANK YOU. 1695 01:05:19,844 --> 01:05:22,113 >> I WILL JUST SHARE MY SLIDE 1696 01:05:22,113 --> 01:05:25,149 REALLY QUICKLY. 1697 01:05:25,149 --> 01:05:29,353 >> MAYBE A LITTLE CLOSER TO THE 1698 01:05:29,353 --> 01:05:39,564 MICROPHONE. 1699 01:05:41,933 --> 01:05:42,333 THANK YOU. 1700 01:05:42,333 --> 01:05:43,434 THANKS TO THE COMMITTEE AND TO 1701 01:05:43,434 --> 01:05:44,602 GLEN FOR THE INVITATION TO 1702 01:05:44,602 --> 01:05:45,369 PRESENT. 1703 01:05:45,369 --> 01:05:48,406 SO I'M TALKING TODAY ABOUT THE 1704 01:05:48,406 --> 01:05:49,640 RECENT WORKSHOP SERIES THAT WE 1705 01:05:49,640 --> 01:05:52,043 HAD ON ADVANCING DIGITAL -- END 1706 01:05:52,043 --> 01:05:54,278 POINT IN DIGITAL HEALTH 1707 01:05:54,278 --> 01:05:56,147 TECHNOLOGIES FOR NEUROLOGICAL 1708 01:05:56,147 --> 01:05:57,081 AND NEUROMUSCULAR DISORDERS. 1709 01:05:57,081 --> 01:05:58,483 >> SORRY, CAROL, MAYBE A LITTLE 1710 01:05:58,483 --> 01:06:01,719 CLOSER TO THE MICROPHONE. 1711 01:06:01,719 --> 01:06:03,521 >> IS THAT BETTER? 1712 01:06:03,521 --> 01:06:06,157 USUALLY I'M TOO SHORT FOR 1713 01:06:06,157 --> 01:06:06,457 MICROPHONES. 1714 01:06:06,457 --> 01:06:07,992 THIS ONE, I MIGHT NOT BE. 1715 01:06:07,992 --> 01:06:09,460 ALL RIGHT. 1716 01:06:09,460 --> 01:06:12,530 SO THIS WAS A COLLABORATIVE 1717 01:06:12,530 --> 01:06:17,468 EFFORT BETWEEN NINDS, NICHD, AND 1718 01:06:17,468 --> 01:06:19,971 NCMRR IN COLLABORATION WITH 1719 01:06:19,971 --> 01:06:21,439 NIAMS AND NATIONAL INSTITUTE ON 1720 01:06:21,439 --> 01:06:23,608 AGING AND MENTAL HEALTH AS WELL. 1721 01:06:23,608 --> 01:06:28,412 AND WE DID THIS THREE DAY 1722 01:06:28,412 --> 01:06:29,881 VIRTUAL WORKSHOP SERIES TO 1723 01:06:29,881 --> 01:06:31,015 REALLY BRING TOGETHER GROUPS 1724 01:06:31,015 --> 01:06:33,785 ACROSS DISEASES, ACROSS INDUSTRY 1725 01:06:33,785 --> 01:06:36,254 PUBLIC PRIVATE PARTNERSHIPS, 1726 01:06:36,254 --> 01:06:38,890 INDIVIDUALS WITH LIVED 1727 01:06:38,890 --> 01:06:41,159 EXPERIENCE, AND DIFFERENT 1728 01:06:41,159 --> 01:06:42,126 STAKEHOLDERS ON THE FUNDING SIDE 1729 01:06:42,126 --> 01:06:45,196 TO GET LESSONS LEARNED AND SEE 1730 01:06:45,196 --> 01:06:46,230 SOME OF THE BREADTH OF WORK 1731 01:06:46,230 --> 01:06:47,665 THAT'S HAPPENING IN DIGITAL END 1732 01:06:47,665 --> 01:06:49,467 POINT DEVELOPMENT AND DIGITAL 1733 01:06:49,467 --> 01:06:50,635 HEALTH TECHNOLOGIES. 1734 01:06:50,635 --> 01:06:52,870 I DON'T THINK I NEED TO 1735 01:06:52,870 --> 01:06:53,971 HIGHLIGHT THE IMPORTANCE OF 1736 01:06:53,971 --> 01:06:56,174 HAVING GOOD OBJECTIVE OUT COME 1737 01:06:56,174 --> 01:06:58,242 ASSESSMENTS FOR THIS COMMITTEE, 1738 01:06:58,242 --> 01:07:00,144 AND WE KNOW THE RISE IN DIGITAL 1739 01:07:00,144 --> 01:07:01,979 HEALTH TECHNOLOGIES AND END 1740 01:07:01,979 --> 01:07:05,449 POINT DEVELOPMENT IS REALLY 1741 01:07:05,449 --> 01:07:07,785 EXPONENTIALLY GROWN, ESPECIALLY 1742 01:07:07,785 --> 01:07:12,256 WITH THE COVID PANDEMIC. 1743 01:07:12,256 --> 01:07:14,392 SO I WANT TO THANK AND RECOGNIZE 1744 01:07:14,392 --> 01:07:16,661 ALL OF THE PROGRAM STAFF THAT 1745 01:07:16,661 --> 01:07:18,529 WERE INVOLVED IN ORGANIZING THIS 1746 01:07:18,529 --> 01:07:20,598 WORKSHOP SERIES, INCLUDING GLEN 1747 01:07:20,598 --> 01:07:27,071 AND EMILY WHO ARE HERE. 1748 01:07:27,071 --> 01:07:28,439 JUGS TO GIVE YOU AN OVERVIEW OF 1749 01:07:28,439 --> 01:07:30,341 HOW THE WORKSHOP SERIES WAS 1750 01:07:30,341 --> 01:07:31,809 STRUCTURED, WE HAD A SERIES OF 1751 01:07:31,809 --> 01:07:33,277 SPECIAL WORKSHOP TOPICS AND EACH 1752 01:07:33,277 --> 01:07:34,912 DAY HAD THREE PARALLEL SESSIONS, 1753 01:07:34,912 --> 01:07:36,747 ONE LOOKING AT EXISTING 1754 01:07:36,747 --> 01:07:38,950 VALIDATION EFFORTS, ANOTHER ON 1755 01:07:38,950 --> 01:07:41,886 THE TECHNOLOGY SIDE, AND A THIRD 1756 01:07:41,886 --> 01:07:48,726 ON GAPS AND OPPORTUNITIES, 1757 01:07:48,726 --> 01:07:50,595 MULTIPLE CLINICIANS ACROSS 1758 01:07:50,595 --> 01:07:50,928 DISEASE AREAS. 1759 01:07:50,928 --> 01:07:53,130 THEN WE HAD A COUPLE OF SESSIONS 1760 01:07:53,130 --> 01:07:54,932 ON REGULATORY PANEL AND THEN 1761 01:07:54,932 --> 01:07:55,900 BREAKOUT SESSIONS ON DAY TWO. 1762 01:07:55,900 --> 01:07:57,635 THE THIRD DAY, WE HAD A PUBLIC 1763 01:07:57,635 --> 01:07:58,803 PRIVATE PARTNERSHIP DISCUSSION. 1764 01:07:58,803 --> 01:08:00,605 SO I'M GOING TO VERY, VERY 1765 01:08:00,605 --> 01:08:01,806 QUICKLY HIGHLIGHT A FEW THINGS 1766 01:08:01,806 --> 01:08:06,477 FROM THAT WORKSHOP. 1767 01:08:06,477 --> 01:08:08,779 AND GO THROUGH ANY QUESTIONS AT 1768 01:08:08,779 --> 01:08:09,814 THE END. 1769 01:08:09,814 --> 01:08:10,882 SO JUST WANT TO HIGHLIGHT THE 1770 01:08:10,882 --> 01:08:11,916 THREE SPECIAL TOPIC TALKS THAT 1771 01:08:11,916 --> 01:08:12,950 WE HAD. 1772 01:08:12,950 --> 01:08:16,954 AND IN PARTICULAR, MENTION 1773 01:08:16,954 --> 01:08:18,456 JENNIFER GOLDSACK, WHO'S FOUNDER 1774 01:08:18,456 --> 01:08:19,724 AND CEO OF DIGITAL MEDICINE 1775 01:08:19,724 --> 01:08:21,726 SOCIETY WHO KICKED US OFF. 1776 01:08:21,726 --> 01:08:23,194 AND IF YOU'RE NOT FAMILIAR WITH 1777 01:08:23,194 --> 01:08:26,430 THIS ORGANIZATION, IT'S A 1778 01:08:26,430 --> 01:08:27,565 NON-PROFIT WORKING HEAVILY WITH 1779 01:08:27,565 --> 01:08:31,569 INDUSTRY AND ACADEMICS, TRYING 1780 01:08:31,569 --> 01:08:33,104 TO ADVANCE DIGITAL END POINT 1781 01:08:33,104 --> 01:08:34,238 DEVELOPMENT AND DIGITAL MEDICINE 1782 01:08:34,238 --> 01:08:37,141 IN GENERAL ACROSS THE GLOBE. 1783 01:08:37,141 --> 01:08:38,609 AND THEY'VE DONE A LOT OF WORK, 1784 01:08:38,609 --> 01:08:39,744 SHE DID A NICE JOB OF 1785 01:08:39,744 --> 01:08:40,611 HIGHLIGHTING SOME OF THE 1786 01:08:40,611 --> 01:08:42,246 ACTIVITY THEY'VE BEEN DOING, 1787 01:08:42,246 --> 01:08:44,348 REALLY TRYING TO MAKE RESOURCES 1788 01:08:44,348 --> 01:08:47,685 AVAILABLE TO UNDERSTAND HOW TO 1789 01:08:47,685 --> 01:08:49,153 GET DIGITAL HEALTH MORE 1790 01:08:49,153 --> 01:08:53,090 EFFECTIVELY USED, HOW TO GET END 1791 01:08:53,090 --> 01:08:53,824 POINTS VALIDATED, AND 1792 01:08:53,824 --> 01:08:55,226 HIGHLIGHTING SOME OF THE 1793 01:08:55,226 --> 01:08:56,093 CHALLENGES WHERE THEY WORK WITH 1794 01:08:56,093 --> 01:08:58,596 A LOT OF INDUSTRY PARTNERS AND 1795 01:08:58,596 --> 01:09:03,200 SEE THE VARIETY OF WAYS THAT 1796 01:09:03,200 --> 01:09:06,337 INDUSTRY ARE USING EXPLORATORY 1797 01:09:06,337 --> 01:09:09,106 DIGITAL ASSESSMENTS AS 1798 01:09:09,106 --> 01:09:10,241 EXPLORATORY OR SECONDARY END 1799 01:09:10,241 --> 01:09:14,979 POINTS IN TRIALS, EVERYONE IS 1800 01:09:14,979 --> 01:09:16,580 USING AN ACCELEROMETER IN A 1801 01:09:16,580 --> 01:09:18,249 DIFFERENT WAY, EVERYONE IS 1802 01:09:18,249 --> 01:09:18,983 MEASURING SLEEP BUT IN A 1803 01:09:18,983 --> 01:09:20,017 DIFFERENT WAY, SO HIGHLIGHTING 1804 01:09:20,017 --> 01:09:23,054 SOME OF THE CHALLENGES IN TRYING 1805 01:09:23,054 --> 01:09:24,488 TO STANDARDIZE ACROSS HOW 1806 01:09:24,488 --> 01:09:26,324 ASSESSMENTS ARE BEING DONE. 1807 01:09:26,324 --> 01:09:28,125 AND JUST WANT TO POINT OUT THIS 1808 01:09:28,125 --> 01:09:29,493 PLAYBOOK IS A GREAT RESOURCE FOR 1809 01:09:29,493 --> 01:09:31,896 ANYONE WHO'S INTERESTED IN 1810 01:09:31,896 --> 01:09:33,364 DEVELOPING DIGITAL END POINTS, 1811 01:09:33,364 --> 01:09:34,966 ESPECIALLY NOVEL ONES, LOOKING 1812 01:09:34,966 --> 01:09:37,001 AT START TO FINISH, WHAT ARE 1813 01:09:37,001 --> 01:09:38,202 SOME OF THE EXAMPLES AND WHAT 1814 01:09:38,202 --> 01:09:39,503 ARE SOME OF THE THOUGHTS THAT 1815 01:09:39,503 --> 01:09:42,707 NEED TO GO INTO HOW YOU DEVELOP 1816 01:09:42,707 --> 01:09:46,844 THESE FOR REGULATORY APPROVAL. 1817 01:09:46,844 --> 01:09:48,012 SO I'M NOT GOING TO TALK ABOUT 1818 01:09:48,012 --> 01:09:49,680 ALL OF THESE, JUST WANT TO 1819 01:09:49,680 --> 01:09:51,182 HIGHLIGHT THE SPEAKERS THAT WE 1820 01:09:51,182 --> 01:09:53,250 HAD ACROSS ALL THREE DAYS FOR 1821 01:09:53,250 --> 01:09:55,953 OUR SESSION ONE. 1822 01:09:55,953 --> 01:09:58,122 EACH DAY, WE HAD THE FIRST ONE 1823 01:09:58,122 --> 01:09:59,991 ON MOTOR FUNCTION, SECOND WAS ON 1824 01:09:59,991 --> 01:10:02,193 SLEEP AND FATIGUE, AUTONOMIC 1825 01:10:02,193 --> 01:10:03,894 FUNCTION, AND THEN COGNITION ON 1826 01:10:03,894 --> 01:10:05,763 DAY THREE. 1827 01:10:05,763 --> 01:10:08,499 SO I'M GOING TO MAKE A COUPLE 1828 01:10:08,499 --> 01:10:11,035 POINTS ON JUST A FEW OF THESE 1829 01:10:11,035 --> 01:10:15,172 EXAMPLES, BUT A LOT OF SHARED 1830 01:10:15,172 --> 01:10:16,707 LESSONS AND COMMON THEMES THAT 1831 01:10:16,707 --> 01:10:18,743 CAME OUT FROM ASSESSMENTS ACROSS 1832 01:10:18,743 --> 01:10:19,977 ALL THREE LARGE FUNCTIONAL 1833 01:10:19,977 --> 01:10:20,945 DOMAINS. 1834 01:10:20,945 --> 01:10:22,246 THE FIRST I'M SURE THE GROUP 1835 01:10:22,246 --> 01:10:24,315 HERE IS FAMILIAR WITH, THE 1836 01:10:24,315 --> 01:10:30,021 STRIDE VELOCITY AT THE 95TH 1837 01:10:30,021 --> 01:10:33,624 CENTILE, SV95C, THE FIRST AND SO 1838 01:10:33,624 --> 01:10:35,793 FAR ONLY QUALIFIED DIGITAL END 1839 01:10:35,793 --> 01:10:43,200 POINT FOR DUCHENNE'S MUSCULAR 1840 01:10:43,200 --> 01:10:44,135 DYSTROPHY. 1841 01:10:44,135 --> 01:10:45,836 WHAT THE WORK WAS TO GET THIS 1842 01:10:45,836 --> 01:10:47,505 QUALIFIED AT EMA, THEY'RE 1843 01:10:47,505 --> 01:10:49,707 WORKING ON FDA QUALIFICATION AS 1844 01:10:49,707 --> 01:10:51,509 WELL, AND A LOT OF OVERLAP IN 1845 01:10:51,509 --> 01:10:53,544 COORDINATION BETWEEN EMA AND FDA 1846 01:10:53,544 --> 01:10:57,982 ON REGULATORY EFFORTS HERE. 1847 01:10:57,982 --> 01:11:01,118 AND SOME OF THE KEY POINTS ON 1848 01:11:01,118 --> 01:11:03,454 HOW THIS IS DONE, IN THIS CASE, 1849 01:11:03,454 --> 01:11:04,855 THIS IS A DIGITAL ASSESSMENT 1850 01:11:04,855 --> 01:11:07,892 REALLY GOING OFF THE SIX-MINUTE 1851 01:11:07,892 --> 01:11:10,428 WALK TEST, BUT A NICE EXAMPLE OF 1852 01:11:10,428 --> 01:11:12,096 WHERE YOU CAN SEE REALLY 1853 01:11:12,096 --> 01:11:14,098 EFFECTIVE USE OF DIGITAL HEALTH 1854 01:11:14,098 --> 01:11:15,699 TECHNOLOGIES, ENABLING MORE REAL 1855 01:11:15,699 --> 01:11:19,570 WORLD DATA CHECK SHUP COLLECTIOD 1856 01:11:19,570 --> 01:11:20,871 IMPROVING CLINICAL EFFICIENCY 1857 01:11:20,871 --> 01:11:21,972 AND CLINICAL TRIALS BY REDUCING 1858 01:11:21,972 --> 01:11:23,974 THE VARIABILITY AND SEEING MUCH 1859 01:11:23,974 --> 01:11:25,443 SMALLER SAMPLE SIZES NEEDED IN 1860 01:11:25,443 --> 01:11:29,046 CLINICAL TRIALS. 1861 01:11:29,046 --> 01:11:32,383 THE SECOND TWO I WANT TO 1862 01:11:32,383 --> 01:11:34,518 HIGHLIGHT ARE TWO LARGE EUROPEAN 1863 01:11:34,518 --> 01:11:35,386 CONSORTIUM. 1864 01:11:35,386 --> 01:11:36,387 THESE ARE MULTI-STAKEHOLDER 1865 01:11:36,387 --> 01:11:37,154 EFFORTS ACROSS DISEASE AREAS, 1866 01:11:37,154 --> 01:11:39,223 AND THAT'S WHAT'S PARTICULARLY 1867 01:11:39,223 --> 01:11:40,424 UNIQUE ABOUT THESE. 1868 01:11:40,424 --> 01:11:42,293 THEY HAVE QUITE A FEW 1869 01:11:42,293 --> 01:11:43,694 INTERNATIONAL PARTNERS, AND 1870 01:11:43,694 --> 01:11:45,830 THEY'RE REALLY LOOKING AT TRYING 1871 01:11:45,830 --> 01:11:49,433 TO GENERALIZE AND GET SOME OF 1872 01:11:49,433 --> 01:11:54,138 THE BASELINE DATA AND UNDERSTAND 1873 01:11:54,138 --> 01:11:55,072 WHAT TECHNOLOGIES AND HOW TO 1874 01:11:55,072 --> 01:11:56,674 MAKE THESE MEASUREMENTS FOR 1875 01:11:56,674 --> 01:11:58,409 MULTIPLE DISEASE AREAS AND 1876 01:11:58,409 --> 01:12:00,678 TRYING TO DO IT MORE EFFICIENTLY 1877 01:12:00,678 --> 01:12:03,214 BY TAKING A LARGER COHORT AND 1878 01:12:03,214 --> 01:12:05,049 LOOKING AT IT ACROSS DISEASES 1879 01:12:05,049 --> 01:12:06,016 WHICH CERTAINLY ADDS TO THE 1880 01:12:06,016 --> 01:12:09,320 COMPLEXITY OF THE ANALYSIS, BUT 1881 01:12:09,320 --> 01:12:12,623 ALALSO MAY BE MORE EFFICIENT IN 1882 01:12:12,623 --> 01:12:14,892 THE LONG RUN. 1883 01:12:14,892 --> 01:12:19,730 SO JUST QUICKLY SOME KEY THEMES. 1884 01:12:19,730 --> 01:12:21,165 OBVIOUSLY PATIENTS AND 1885 01:12:21,165 --> 01:12:21,866 PARTICIPANTS NEED TO BE ENGAGED 1886 01:12:21,866 --> 01:12:25,202 EARLY TO ENSURE WHAT'S MEASURED 1887 01:12:25,202 --> 01:12:25,970 IS MEANINGFUL. 1888 01:12:25,970 --> 01:12:27,171 EARLY AND FREQUENT ENGAGEMENT 1889 01:12:27,171 --> 01:12:28,706 WITH REGULATORS WAS CERTAINLY 1890 01:12:28,706 --> 01:12:30,774 HIGHLIGHTED AS WELL. 1891 01:12:30,774 --> 01:12:32,476 WITH REAL WORLD DATA COLLECTION, 1892 01:12:32,476 --> 01:12:33,944 OF COURSE THE CONTEXT OF WHAT 1893 01:12:33,944 --> 01:12:35,246 DATA IS BEING MEASURED IS 1894 01:12:35,246 --> 01:12:36,947 ESSENTIAL TO REALLY UNDERSTAND 1895 01:12:36,947 --> 01:12:38,983 AND INTERPRET WHAT THOSE NUMBERS 1896 01:12:38,983 --> 01:12:41,085 MEAN. 1897 01:12:41,085 --> 01:12:43,554 CERTAINLY SOME CHALLENGES IN 1898 01:12:43,554 --> 01:12:45,322 DEVICE SELECTION AND 1899 01:12:45,322 --> 01:12:45,923 GENERALIZABILITY. 1900 01:12:45,923 --> 01:12:48,025 IN PARTICULAR, A NUMBER OF 1901 01:12:48,025 --> 01:12:49,994 GROUPS BROUGHT UP THE FACT THAT 1902 01:12:49,994 --> 01:12:51,695 TECHNOLOGY IS ADVANCING SO 1903 01:12:51,695 --> 01:12:54,765 QUICKLY THAT WE REALLY NEED 1904 01:12:54,765 --> 01:12:56,767 DEVICE AGNOSTIC END POINTS SO 1905 01:12:56,767 --> 01:12:58,736 THAT THERE'S SOME STANDARD AND 1906 01:12:58,736 --> 01:13:00,871 YOU CAN APLAY THE SAME CLINICAL 1907 01:13:00,871 --> 01:13:02,940 OUTCOME ASSESSMENT ACROSS 1908 01:13:02,940 --> 01:13:04,675 MULTIPLE DEVICES. 1909 01:13:04,675 --> 01:13:08,679 AS THEY ADVANCE. 1910 01:13:08,679 --> 01:13:10,047 SO FOR THE TECHNOLOGY SESSION, 1911 01:13:10,047 --> 01:13:12,716 AGAIN, I'M JUST GOING TO 1912 01:13:12,716 --> 01:13:13,751 HIGHLIGHT THE SPEAKERS THAT WE 1913 01:13:13,751 --> 01:13:16,253 HAD FOR ALL THREE DAYS. 1914 01:13:16,253 --> 01:13:17,821 AND THEN TWO QUICK EXAMPLES. 1915 01:13:17,821 --> 01:13:21,725 SO WHEN WE'RE MOVING INTO 1916 01:13:21,725 --> 01:13:23,794 MULTICOMPONENT DIGITAL 1917 01:13:23,794 --> 01:13:26,964 ASSESSMENTS, AND NOVEL END POINT 1918 01:13:26,964 --> 01:13:28,165 DEVELOPMENT, LOOKING AT NOT JUST 1919 01:13:28,165 --> 01:13:31,435 A PARTICULAR CLINICAL CONCEPT 1920 01:13:31,435 --> 01:13:34,438 THAT'S BEING MEASURED LIKE 1921 01:13:34,438 --> 01:13:36,040 STRIDE VELOCITY, BUT LOOKING AT 1922 01:13:36,040 --> 01:13:37,975 A MORE GLOBAL PERSPECTIVE OF 1923 01:13:37,975 --> 01:13:39,009 MULTIPLE SYMPTOMS, FUNCTIONS 1924 01:13:39,009 --> 01:13:42,713 THAT ARE HAPPENING, THE AMOUNT 1925 01:13:42,713 --> 01:13:44,848 OF DATA THAT CAN BE COLLECTED 1926 01:13:44,848 --> 01:13:46,217 AND THE NUMBER OF MEASUREMENTS 1927 01:13:46,217 --> 01:13:47,218 THAT CAN BE COLLECTED FOR SOME 1928 01:13:47,218 --> 01:13:49,520 OF THESE WEARABLES AND 1929 01:13:49,520 --> 01:13:51,322 ASSESSMENTS IS ENORMOUS, RIGHT? 1930 01:13:51,322 --> 01:13:52,189 HUGE POTENTIAL HERE. 1931 01:13:52,189 --> 01:13:54,024 BUT THAT ALSO ADDS TO THE 1932 01:13:54,024 --> 01:13:55,392 CHALLENGE OF WHAT'S MOST 1933 01:13:55,392 --> 01:13:56,260 IMPORTANT, WHAT'S MOST 1934 01:13:56,260 --> 01:13:57,962 MEANINGFUL, AND WHAT'S MOST 1935 01:13:57,962 --> 01:13:59,196 PREDICTIVE FOR THE OUTCOME OF 1936 01:13:59,196 --> 01:14:02,233 INTEREST. 1937 01:14:02,233 --> 01:14:05,869 AND SIMILARLY, AN EXAMPLE 1938 01:14:05,869 --> 01:14:10,140 LOOKING AT VOICE AND SPEECH AS A 1939 01:14:10,140 --> 01:14:12,009 DIGITAL BIOMARKER CLINICAL 1940 01:14:12,009 --> 01:14:14,912 OUTCOME ASSESSMENT, THERE'S A 1941 01:14:14,912 --> 01:14:22,519 HIGHLIGHT FROM FRANCESCA CO 1942 01:14:22,519 --> 01:14:24,154 CORMACK, THEY'VE LOOKED AT ABOUT 1943 01:14:24,154 --> 01:14:25,656 700 DIFFERENT SPEECH VARIABLES 1944 01:14:25,656 --> 01:14:27,791 THAT ARE EXTRACTED, SO HUGE 1945 01:14:27,791 --> 01:14:29,360 POTENTIAL TO CAPTURE A LOT OF 1946 01:14:29,360 --> 01:14:31,262 DIFFERENT ELEMENTS OF COGNITION 1947 01:14:31,262 --> 01:14:33,397 AND MOTOR FUNCTION, BUT DEFINING 1948 01:14:33,397 --> 01:14:34,331 WHAT'S MOST IMPORTANT FOR 1949 01:14:34,331 --> 01:14:35,299 DIFFERENT POPULATIONS IS 1950 01:14:35,299 --> 01:14:39,169 CRITICAL. 1951 01:14:39,169 --> 01:14:40,504 SO JUST A COUPLE OF THEMES FROM 1952 01:14:40,504 --> 01:14:41,705 THE DEVICE USERS. 1953 01:14:41,705 --> 01:14:42,840 OBVIOUSLY, AGAIN, THERE'S ALWAYS 1954 01:14:42,840 --> 01:14:44,675 THE NEED TO HAVE THE CONSUMERS, 1955 01:14:44,675 --> 01:14:46,210 BOTH PATIENTS AND CLINICIANS, 1956 01:14:46,210 --> 01:14:48,145 INVOLVED IN THESE DEVICES. 1957 01:14:48,145 --> 01:14:49,280 DEVELOPMENT FROM THE EARLY STAGE 1958 01:14:49,280 --> 01:14:50,714 SO THAT THEY ARE MOST 1959 01:14:50,714 --> 01:14:51,582 EFFICIENTLY DESIGNED FOR THE 1960 01:14:51,582 --> 01:14:56,186 USERS IN MIND. 1961 01:14:56,186 --> 01:14:57,554 GETTING SUFFICIENT SAMPLE SIZES 1962 01:14:57,554 --> 01:14:59,323 CAN BE CHALLENGING FOR THOSE 1963 01:14:59,323 --> 01:15:00,491 SMALL DEVICE COMPANIES AS 1964 01:15:00,491 --> 01:15:01,558 THEY'RE GETTING STARTED. 1965 01:15:01,558 --> 01:15:02,860 OF COURSE THE NUMBER OF FEATURES 1966 01:15:02,860 --> 01:15:04,495 AS I JUST HIGHLIGHTED IS 1967 01:15:04,495 --> 01:15:05,362 COMPUTATIONALLY CHALLENGING AND 1968 01:15:05,362 --> 01:15:06,764 I THINK WE HEARD FROM A FEW 1969 01:15:06,764 --> 01:15:09,433 PEOPLE WHERE THEY MIGHT NOT HAVE 1970 01:15:09,433 --> 01:15:11,068 THE DATA AVAILABILITY OR THE 1971 01:15:11,068 --> 01:15:15,306 STATISTICAL EXPERTISE IN SOME OF 1972 01:15:15,306 --> 01:15:16,774 THESE SMALLER COMPANIES THAT ARE 1973 01:15:16,774 --> 01:15:17,574 GETTING GOING. 1974 01:15:17,574 --> 01:15:18,976 THEN SOFTWARE OUTPUT AND 1975 01:15:18,976 --> 01:15:20,110 DISPLAYS REALLY NEED TO BE 1976 01:15:20,110 --> 01:15:22,613 SIMPLE AND INTERPRETABLE IF 1977 01:15:22,613 --> 01:15:24,248 THERE'S GOING TO BE WIDESPREAD 1978 01:15:24,248 --> 01:15:27,217 UPTAKE IN USE. 1979 01:15:27,217 --> 01:15:28,886 GOING TO THE THIRD SESSIONS OF 1980 01:15:28,886 --> 01:15:32,456 THE THREE PANELS, REALLY 1981 01:15:32,456 --> 01:15:33,991 APPRECIATED THE DISCUSSIONS, 1982 01:15:33,991 --> 01:15:36,160 THOUGHTFUL DISCUSSIONS FROM ALL 1983 01:15:36,160 --> 01:15:40,030 OF OUR CLINICIANS AND REHAB 1984 01:15:40,030 --> 01:15:40,798 SPECIALISTS WHO JOINED. 1985 01:15:40,798 --> 01:15:43,267 A LOT OF SIMILAR THEMES HERE AS 1986 01:15:43,267 --> 01:15:46,670 WELL. 1987 01:15:46,670 --> 01:15:48,072 WE'VE TALKED ABOUT 1988 01:15:48,072 --> 01:15:49,840 OPPORTUNITIES. 1989 01:15:49,840 --> 01:15:52,376 AGAIN, THERE'S I THINK PRETTY 1990 01:15:52,376 --> 01:15:53,243 UNIVERSAL RECOGNITION OF THE 1991 01:15:53,243 --> 01:15:54,511 POTENTIAL FOR USING DIGITAL OUT 1992 01:15:54,511 --> 01:15:56,613 COME ASSESSMENTS FOR REMOTE 1993 01:15:56,613 --> 01:15:57,848 MONITORING, RECOGNIZING WE CAN 1994 01:15:57,848 --> 01:15:58,582 REALLY REACH INDIVIDUALS WHO 1995 01:15:58,582 --> 01:16:03,887 MIGHT NOT BIBLE A -- MIGHT NOT E 1996 01:16:03,887 --> 01:16:05,255 TO PARTICIPATE IN TRIALS. 1997 01:16:05,255 --> 01:16:06,690 MUCH RICHER AND MORE NUANCED 1998 01:16:06,690 --> 01:16:07,958 INFORMATION. 1999 01:16:07,958 --> 01:16:09,927 THE INCREASED FREQUENCY THAT 2000 01:16:09,927 --> 01:16:13,297 HELPS REDUCE THE INHERENT 2001 01:16:13,297 --> 01:16:14,998 STATE-DEPENDENT VARIABILITY FROM 2002 01:16:14,998 --> 01:16:15,432 CLINIC ASSESSMENTS. 2003 01:16:15,432 --> 01:16:18,068 OF COURSE THE CHALLENGE WE KEEP 2004 01:16:18,068 --> 01:16:19,870 TALKING ABOUT ARE THE FEATURES, 2005 01:16:19,870 --> 01:16:20,804 WHAT'S MOST MEANINGFUL. 2006 01:16:20,804 --> 01:16:22,239 THE COMFORT WITH TECHNOLOGY FOR 2007 01:16:22,239 --> 01:16:23,907 SOME POPULATIONS THAT MIGHT NOT 2008 01:16:23,907 --> 01:16:25,609 BE AS DIGITALLY LITERAL OR NOT 2009 01:16:25,609 --> 01:16:28,245 AS WILLING TO HAVE WEARABLES OR 2010 01:16:28,245 --> 01:16:30,347 OTHER DEVICES IN THEIR HOME. 2011 01:16:30,347 --> 01:16:32,015 AND THEN CHALLENGES WITH DEVICE 2012 01:16:32,015 --> 01:16:33,050 SELECTION. 2013 01:16:33,050 --> 01:16:36,053 YOU KNOW, A NUMBER OF CLINICIANS 2014 01:16:36,053 --> 01:16:37,121 WE'RE TALKING ABOUT, THERE'S SO 2015 01:16:37,121 --> 01:16:38,255 MANY OUT THERE, WHICH IS THE 2016 01:16:38,255 --> 01:16:40,657 RIGHT ONE. 2017 01:16:40,657 --> 01:16:41,992 AND A FEW GAPS, THERE WASN'T 2018 01:16:41,992 --> 01:16:43,861 REALLY A LOT OF CONVERSATION 2019 01:16:43,861 --> 01:16:46,830 ABOUT THE GAPS FOR TECHNOLOGIES 2020 01:16:46,830 --> 01:16:48,399 THEMSELVES. 2021 01:16:48,399 --> 01:16:50,000 OTHER THAN PEDIATRIC, WHICH THIS 2022 01:16:50,000 --> 01:16:53,303 GROUP MIGHT BE OF SHARED 2023 01:16:53,303 --> 01:16:54,838 INTEREST IS THAT ESPECIALLY ON 2024 01:16:54,838 --> 01:16:56,974 THE WEARABLE SIDE, THERE'S MORE 2025 01:16:56,974 --> 01:16:59,042 VIDEO ASSESSMENTS BECAUSE THERE 2026 01:16:59,042 --> 01:17:00,110 AREN'T MANY WEARABLES DESIGNED 2027 01:17:00,110 --> 01:17:04,248 FOR PEDIATRIC OP LAITI POPULATID 2028 01:17:04,248 --> 01:17:06,984 PEDIATRIC OUTCOMES. 2029 01:17:06,984 --> 01:17:08,118 INCREASING THE ACCESSIBILITY OF 2030 01:17:08,118 --> 01:17:09,953 THE TECHNOLOGIES TO BE 2031 01:17:09,953 --> 01:17:11,822 DEPLOYABLE IN LOW BANDWIDTH 2032 01:17:11,822 --> 01:17:14,458 AREAS IS CERTAINLY HIGHLIGHTED, 2033 01:17:14,458 --> 01:17:17,928 AND RE REGULATORY APPROVAL END 2034 01:17:17,928 --> 01:17:18,862 POINTS AND LACK OF 2035 01:17:18,862 --> 01:17:19,229 STANDARDIZATION. 2036 01:17:19,229 --> 01:17:20,998 SO JUST ABOUT DONE HERE. 2037 01:17:20,998 --> 01:17:22,199 WITH SESSION FOUR, WE HAD A 2038 01:17:22,199 --> 01:17:25,936 REALLY NICE PANEL OF REGULATORS 2039 01:17:25,936 --> 01:17:28,739 FROM SEVERAL GROUPS IN THE FDA, 2040 01:17:28,739 --> 01:17:30,541 AS WELL AS SUSAN MILLER FROM 2041 01:17:30,541 --> 01:17:31,141 CMS. 2042 01:17:31,141 --> 01:17:33,343 THEY GAVE SOME OVERVIEWS OF 2043 01:17:33,343 --> 01:17:34,311 WHAT'S HAPPENING IN THEIR SPACE 2044 01:17:34,311 --> 01:17:35,779 AND SOME OF THE REGULATORY 2045 01:17:35,779 --> 01:17:36,780 CONSIDERATIONS AND GUIDANCE 2046 01:17:36,780 --> 01:17:40,784 DOCUMENTS THAT ARE OUT THERE. 2047 01:17:40,784 --> 01:17:42,419 AND A NUMBER OF COMMON REVIEW 2048 01:17:42,419 --> 01:17:45,589 POINTS THAT WERE BROUGHT UP, 2049 01:17:45,589 --> 01:17:47,991 PATIENT-CENTERED EVIDENCE OF 2050 01:17:47,991 --> 01:17:50,928 CLINICAL MEANINGFULNESS. 2051 01:17:50,928 --> 01:17:52,262 EVIDENCE OF FIT-FOR-PURPOSE 2052 01:17:52,262 --> 01:17:54,097 VALIDATION, WHAT THE PURPOSE IS 2053 01:17:54,097 --> 01:17:55,566 AT EACH STAGE OR EACH CENTER IS 2054 01:17:55,566 --> 01:17:57,267 A LITTLE BIT DIFFERENT, BUT 2055 01:17:57,267 --> 01:17:58,769 ALWAYS ESSENTIAL TO HIGHLIGHT 2056 01:17:58,769 --> 01:18:01,338 AND SHOW. 2057 01:18:01,338 --> 01:18:02,739 AND THEN REITERATING THAT THERE 2058 01:18:02,739 --> 01:18:04,608 IS A LOT OF GUIDANCE BEING 2059 01:18:04,608 --> 01:18:05,809 DEVELOPED CURRENTLY BY THE FDA 2060 01:18:05,809 --> 01:18:07,778 FOR THE DIGITAL ASSESSMENTS. 2061 01:18:07,778 --> 01:18:12,049 THIS AREA IS REALLY BLOWING UP. 2062 01:18:12,049 --> 01:18:14,551 AND THEN GETTING ADVICE FROM THE 2063 01:18:14,551 --> 01:18:17,521 FDA OR FROM CMS EARLY AND 2064 01:18:17,521 --> 01:18:21,124 FREQUENTLY. 2065 01:18:21,124 --> 01:18:23,093 AND THEN FINALLY, OUR LAST DAY 2066 01:18:23,093 --> 01:18:24,595 AND LAST SESSION, WITH HE CLOSED 2067 01:18:24,595 --> 01:18:26,463 OUT WITH PERSPECTIVES ON 2068 01:18:26,463 --> 01:18:28,198 ADVANCING DIGITAL END POINT 2069 01:18:28,198 --> 01:18:29,600 DEVELOPMENT ON PUBLIC PRIVATE 2070 01:18:29,600 --> 01:18:30,567 PARTNERSHIPS, AND REALLY 2071 01:18:30,567 --> 01:18:34,505 APPRECIATED HAVING DIANE 2072 01:18:34,505 --> 01:18:37,307 STEPHENSON THERE FROM CRITICAL 2073 01:18:37,307 --> 01:18:39,676 PATH INSTITUTE TALKING ABOUT THE 2074 01:18:39,676 --> 01:18:40,410 PARKINSON'S DIGITAL EFFORT, AS 2075 01:18:40,410 --> 01:18:43,046 WELL AS THE INDUSTRY 2076 01:18:43,046 --> 01:18:52,389 REPRESENTATIVES, STEVE HOFFMANN. 2077 01:18:52,389 --> 01:18:55,359 AND PENNY DACS HIGHLIGHTED SOME 2078 01:18:55,359 --> 01:18:55,993 EFFORTS THAT THEY'VE ALREADY 2079 01:18:55,993 --> 01:18:57,828 BEEN WORKING ON COLLABORATING 2080 01:18:57,828 --> 01:19:01,465 FOR RESOURCE SHARING BETWEEN FTD 2081 01:19:01,465 --> 01:19:02,833 AND ONE OF THE ALS ASSOCIATIONS 2082 01:19:02,833 --> 01:19:04,167 TRYING TO SHARE AND POOL 2083 01:19:04,167 --> 01:19:05,469 RESOURCES TO GET GROUPS TO COME 2084 01:19:05,469 --> 01:19:06,703 TOGETHER TO IDENTIFY END POINTS 2085 01:19:06,703 --> 01:19:08,605 THAT ARE OF INTEREST TO BOTH 2086 01:19:08,605 --> 01:19:11,041 COMMUNITIES. 2087 01:19:11,041 --> 01:19:12,709 SO AGAIN, HIGH ON THAT NEED FOR 2088 01:19:12,709 --> 01:19:15,579 REGULATORY APPROVED END POINTS. 2089 01:19:15,579 --> 01:19:17,047 OBVIOUSLY THE VALUE OF PUBLIC 2090 01:19:17,047 --> 01:19:18,615 PRIVATE PARTNERSHIPS TO ENGAGE 2091 01:19:18,615 --> 01:19:20,584 MULTIPLE STAKEHOLDERS. 2092 01:19:20,584 --> 01:19:22,519 AND NEED FOR FASTER DEVELOPMENT 2093 01:19:22,519 --> 01:19:24,021 AND VALIDATION. 2094 01:19:24,021 --> 01:19:25,088 AND OF COURSE NEED FOR DATA 2095 01:19:25,088 --> 01:19:29,493 SHARING. 2096 01:19:29,493 --> 01:19:32,496 I THINK THE TAKE-HOME AND THE 2097 01:19:32,496 --> 01:19:35,399 THOUGHTS, WE WANT TO INCREASE 2098 01:19:35,399 --> 01:19:36,667 THE RATE OF TRANSLATION, WE WANT 2099 01:19:36,667 --> 01:19:37,868 TO INCREASE THESE DIGITAL 2100 01:19:37,868 --> 01:19:39,336 ASSESSMENTS TO BE USEFUL IN 2101 01:19:39,336 --> 01:19:41,204 CLINICAL TRIALS, IN CLINICAL 2102 01:19:41,204 --> 01:19:42,472 PRACTICE AS QUICKLY AS POSSIBLE. 2103 01:19:42,472 --> 01:19:45,342 AND HOW DO WE ACCELERATE THAT. 2104 01:19:45,342 --> 01:19:46,944 AND HOW DO ALL OF THE 2105 01:19:46,944 --> 01:19:47,844 STAKEHOLDERS COME TOGETHER TO 2106 01:19:47,844 --> 01:19:49,179 ACCELERATE THAT. 2107 01:19:49,179 --> 01:19:50,781 ESPECIALLY IN THESE LATER STAGE 2108 01:19:50,781 --> 01:19:54,051 CLINICAL VALIDATION AREAS, WHERE 2109 01:19:54,051 --> 01:19:57,521 THE AMOUNT OF RESOURCES BECOME 2110 01:19:57,521 --> 01:20:00,757 MUCH MORE EXTENSIVE, AND IT'S 2111 01:20:00,757 --> 01:20:01,959 HARDER TO DO IF YOU'RE DOING IT 2112 01:20:01,959 --> 01:20:06,229 ALONE. 2113 01:20:06,229 --> 01:20:07,965 AGAIN, AS PEOPLE ARE DEVELOPING 2114 01:20:07,965 --> 01:20:11,401 END POINTS, THERE ARE A LOT OF 2115 01:20:11,401 --> 01:20:12,369 CRITICAL QUESTIONS THAT NEED TO 2116 01:20:12,369 --> 01:20:15,505 BE ANSWERED TO BE SUCCESSFUL. 2117 01:20:15,505 --> 01:20:18,208 AND THE MORE THAT GROUPS CAN 2118 01:20:18,208 --> 01:20:20,677 COORDINATE AND IDENTIFY SHARED 2119 01:20:20,677 --> 01:20:22,713 NEEDS, AND DEFINE THESE UP 2120 01:20:22,713 --> 01:20:24,348 FRONT, AND CAN COME TOGETHER TO 2121 01:20:24,348 --> 01:20:26,483 DECIDE WHAT THEY ARE, THE BETTER 2122 01:20:26,483 --> 01:20:28,118 CHANCE OF SUCCESS THERE IS, 2123 01:20:28,118 --> 01:20:30,354 RATHER THAN EACH GROUP DOING IT 2124 01:20:30,354 --> 01:20:33,323 ALONE. 2125 01:20:33,323 --> 01:20:35,826 FINALLY, YOU KNOW, JUST THE KEY 2126 01:20:35,826 --> 01:20:36,960 TAKEAWAYS, YOU KNOW, IMPLEMENT 2127 01:20:36,960 --> 01:20:39,162 THE LESSONS FROM EXISTING 2128 01:20:39,162 --> 01:20:39,396 EFFORTS. 2129 01:20:39,396 --> 01:20:40,330 THIS WAS PART OF THE GOAL OF THE 2130 01:20:40,330 --> 01:20:41,565 WORKSHOP, REALLY TO LEARN FROM 2131 01:20:41,565 --> 01:20:42,899 EACH OTHER AND LEARN WHAT ELSE 2132 01:20:42,899 --> 01:20:44,167 IS HAPPENING ACROSS DIFFERENT 2133 01:20:44,167 --> 01:20:45,869 AREAS. 2134 01:20:45,869 --> 01:20:47,204 GET MULTIPLE STAKEHOLDERS 2135 01:20:47,204 --> 01:20:47,804 INVOLVED. 2136 01:20:47,804 --> 01:20:49,439 IDENTIFY SHARED NEEDS. 2137 01:20:49,439 --> 01:20:51,508 WE KNOW THAT THESE SMALL END 2138 01:20:51,508 --> 01:20:55,412 STUDIES ARE MUCH LESS LIKELY TO 2139 01:20:55,412 --> 01:20:56,413 TRANSLATE THAN THE LARGER 2140 01:20:56,413 --> 01:21:02,085 EFFORTS THAT ARE GOING TO BE 2141 01:21:02,085 --> 01:21:03,186 VALIDATED WITH MORE ROBUST 2142 01:21:03,186 --> 01:21:05,422 DESIGN. 2143 01:21:05,422 --> 01:21:06,690 AND OF COURSE COLLABORATE, 2144 01:21:06,690 --> 01:21:09,226 STANDARDIZE AND SHARE RESOURCES. 2145 01:21:09,226 --> 01:21:10,627 SO WITH THAT, I WILL THANK YOU 2146 01:21:10,627 --> 01:21:11,061 ALL AGAIN. 2147 01:21:11,061 --> 01:21:16,533 ANY QUESTIONS? 2148 01:21:16,533 --> 01:21:18,135 >> THANKS, CAROL, FOR LEADING 2149 01:21:18,135 --> 01:21:19,770 THE EFFORTS TO ORGANIZE THAT 2150 01:21:19,770 --> 01:21:22,973 CONFERENCE AND FOR PROVIDING A 2151 01:21:22,973 --> 01:21:23,940 SUMMARY. 2152 01:21:23,940 --> 01:21:25,909 WE HAVE TIME FOR JUST ONE 2153 01:21:25,909 --> 01:21:26,777 QUESTION. 2154 01:21:26,777 --> 01:21:28,912 DR. CRISWELL? 2155 01:21:28,912 --> 01:21:30,280 >> I WAS JUST GOING TO MAKE A 2156 01:21:30,280 --> 01:21:30,580 COMMENT. 2157 01:21:30,580 --> 01:21:32,449 I REALLY APPRECIATE THE SUMMARY 2158 01:21:32,449 --> 01:21:34,317 OF THAT MEETING. 2159 01:21:34,317 --> 01:21:35,852 SO IMPORTANT FOR THIS COMMUNITY 2160 01:21:35,852 --> 01:21:36,720 AND MANY OTHERS. 2161 01:21:36,720 --> 01:21:39,222 AND I WOULD HOPE THAT THE 2162 01:21:39,222 --> 01:21:41,658 EXPERIENCES OF THE PANDEMIC HAS 2163 01:21:41,658 --> 01:21:43,994 REALLY INCREASED INTEREST AND 2164 01:21:43,994 --> 01:21:47,264 MOMENTUM AND A SENSE OF URGENCY 2165 01:21:47,264 --> 01:21:48,665 ABOUT DEVELOPMENT ALONG THESE 2166 01:21:48,665 --> 01:21:49,032 LINES. 2167 01:21:49,032 --> 01:21:50,200 SO ANYWAY, WHAT AN IMPORTANT 2168 01:21:50,200 --> 01:21:50,434 EFFORT. 2169 01:21:50,434 --> 01:21:51,468 THANK YOU SO MUCH FOR THAT 2170 01:21:51,468 --> 01:21:52,569 SUMMARY, AND TO THOSE OF YOU 2171 01:21:52,569 --> 01:21:54,671 AROUND THE TABLE AND ELSEWHERE 2172 01:21:54,671 --> 01:21:55,472 WHO PARTICIPATED. 2173 01:21:55,472 --> 01:22:00,343 >> THANK YOU. 2174 01:22:00,343 --> 01:22:00,944 >> DAN? 2175 01:22:00,944 --> 01:22:02,045 I THINK WE HAVE TIME FOR ONE 2176 01:22:02,045 --> 01:22:11,822 MORE QUICK QUESTION. 2177 01:22:11,822 --> 01:22:15,092 >> THANK YOU FOR THAT EXCELLENT 2178 01:22:15,092 --> 01:22:17,627 PRESENTATION. 2179 01:22:17,627 --> 01:22:21,231 I WAS JUST CURIOUS, SITTING HERE 2180 01:22:21,231 --> 01:22:24,968 WITH MUSCULAR DYSTROPHY AS A 2181 01:22:24,968 --> 01:22:28,538 PATIENT, I WAS JUST CURIOUS OR 2182 01:22:28,538 --> 01:22:34,644 TRYING TO UNDERSTAND HOW YOU 2183 01:22:34,644 --> 01:22:40,717 INTEGRATE THE PATIENT EXPERIENCE 2184 01:22:40,717 --> 01:22:43,420 INTO THE DISCUSSION OF WHERE THE 2185 01:22:43,420 --> 01:22:48,692 PATIENT IS IN THIS DISCUSSION. 2186 01:22:48,692 --> 01:22:58,835 SO A LOT OF TIMES, I WORRY IT'S 2187 01:22:58,835 --> 01:23:00,604 NOT JUST WELL TRAINED, HIGHLY 2188 01:23:00,604 --> 01:23:02,839 TRAINED EXPERTS SITTING AROUND 2189 01:23:02,839 --> 01:23:06,009 DISCUSSING WHAT IT IS THE 2190 01:23:06,009 --> 01:23:08,078 PATIENT SHOULD HAVE OR WHAT IT 2191 01:23:08,078 --> 01:23:10,847 IS THAT'S IMPORTANT FOR THE 2192 01:23:10,847 --> 01:23:14,684 CLINICAL TRIAL PROCESS WITHOUT 2193 01:23:14,684 --> 01:23:21,324 HAVING THE CONSUMER IN THE ROOM. 2194 01:23:21,324 --> 01:23:21,958 -- IN THE THEATER. 2195 01:23:21,958 --> 01:23:26,096 I WAS JUST CURIOUS TO KNOW HOW 2196 01:23:26,096 --> 01:23:30,700 YOU CHECK AND BALANCE THAT WHAT 2197 01:23:30,700 --> 01:23:36,640 YOU'RE DRIVING TO ASCERTAIN 2198 01:23:36,640 --> 01:23:40,644 DIGITALLY HAS RELEVANCE TO THE 2199 01:23:40,644 --> 01:23:43,647 PATIENT EXPERIENCE. 2200 01:23:43,647 --> 01:23:45,348 >> THANK YOU FOR THE QUESTION. 2201 01:23:45,348 --> 01:23:46,750 ACTUALLY, I THINK IF THERE WAS 2202 01:23:46,750 --> 01:23:48,685 ONE -- IF I HAD TO PICK ONE 2203 01:23:48,685 --> 01:23:51,488 THEME FROM ALL THREE DAYS, IT 2204 01:23:51,488 --> 01:23:53,623 WAS, WE ABSOLUTELY NEED THE 2205 01:23:53,623 --> 01:23:55,292 CONSUMERS -- THE INDIVIDUALS 2206 01:23:55,292 --> 01:23:56,693 WITH LIVED EXPERIENCE IN THE 2207 01:23:56,693 --> 01:23:57,794 ROOM FROM THE BEGINNING, WHETHER 2208 01:23:57,794 --> 01:23:59,663 IT'S THE DEVICE DEVELOPMENT OR 2209 01:23:59,663 --> 01:24:02,332 IT'S THE END POINT DEVELOPMENT, 2210 01:24:02,332 --> 01:24:05,035 AND THAT WAS REITERATED BY THE 2211 01:24:05,035 --> 01:24:06,336 REGULATORS, BY THE PRIVATE 2212 01:24:06,336 --> 01:24:08,238 PARTNERS, AND BY THE RESEARCHERS 2213 01:24:08,238 --> 01:24:10,040 AND CLINICIANS, JUST RECOGNIZING 2214 01:24:10,040 --> 01:24:13,977 THAT, YOU KNOW, WE CAN'T -- 2215 01:24:13,977 --> 01:24:16,346 MEANINGFUL NEEDS TO HAVE THE 2216 01:24:16,346 --> 01:24:22,853 CONSUMER VOICE. 2217 01:24:22,853 --> 01:24:23,486 >> THANKS, CAROL. 2218 01:24:23,486 --> 01:24:28,158 SO THE NEXT PRESENTATION WILL BE 2219 01:24:28,158 --> 01:24:31,828 FROM JUNE KINOSHITA FROM THE FSH 2220 01:24:31,828 --> 01:24:34,264 SEW SIDE AND SHE'LL TELL US 2221 01:24:34,264 --> 01:24:35,599 ABOUT THE INTERNATIONAL RESEARCH 2222 01:24:35,599 --> 01:24:36,533 CONFERENCE AND SOME OTHER 2223 01:24:36,533 --> 01:24:37,067 EVENTS. 2224 01:24:37,067 --> 01:24:37,267 JUNE? 2225 01:24:37,267 --> 01:24:38,668 >> YES, THANK YOU SO MUCH FOR 2226 01:24:38,668 --> 01:24:39,636 INVITING US TODAY. 2227 01:24:39,636 --> 01:24:41,471 WE'VE BEEN ASKED TO REPORT ON 2228 01:24:41,471 --> 01:24:43,173 THE INTERNATIONAL RESEARCH 2229 01:24:43,173 --> 01:24:43,874 CONGRESS. 2230 01:24:43,874 --> 01:24:45,075 UNFORTUNATELY I DID NOT HAVE 2231 01:24:45,075 --> 01:24:46,977 ACCESS TO DATA SLIDES SO I'M 2232 01:24:46,977 --> 01:24:48,645 GOING TO TALK THROUGH THE 2233 01:24:48,645 --> 01:24:51,414 SESSIONS, GIVE YOU A 10,000-FOOT 2234 01:24:51,414 --> 01:24:52,515 VIEW, THAT I HOPE WILL GIVE YOU 2235 01:24:52,515 --> 01:24:54,317 KIND OF A GENERAL SENSE OF THE 2236 01:24:54,317 --> 01:24:57,153 LEVEL OF ACTIVITY AND THE TYPES 2237 01:24:57,153 --> 01:25:00,223 OF AREAS THAT ARE -- WERE DEEMED 2238 01:25:00,223 --> 01:25:01,224 REALLY INTERESTING BY OUR 2239 01:25:01,224 --> 01:25:05,128 PROGRAM COMMITTEE. 2240 01:25:05,128 --> 01:25:06,930 FIRST I WANTED TO HIGHLIGHT AS 2241 01:25:06,930 --> 01:25:08,698 PART OF THE GREATER CONTEXT IN 2242 01:25:08,698 --> 01:25:13,203 WHICH ALL THIS WORK IS HAPPEN 2243 01:25:13,203 --> 01:25:14,204 HAPPENING, WHERE WE ARE IN 2244 01:25:14,204 --> 01:25:15,372 THERAPY DEVELOPMENT. 2245 01:25:15,372 --> 01:25:16,806 THIS HAS CHANGED DRAMATICALLY 2246 01:25:16,806 --> 01:25:17,374 OVER THE LAST FEW YEARS. 2247 01:25:17,374 --> 01:25:19,342 YOU CAN SEE FROM OUR PIPELINE 2248 01:25:19,342 --> 01:25:21,811 DIAGRAM THAT WE HAVE THREE 2249 01:25:21,811 --> 01:25:23,246 COMPOUNDS NOW IN CLINICAL 2250 01:25:23,246 --> 01:25:23,480 TRIALS. 2251 01:25:23,480 --> 01:25:28,084 A PHASE THREE, TWO PHASE 1/2 AND 2252 01:25:28,084 --> 01:25:28,752 THERE'S THREE ADDITIONAL 2253 01:25:28,752 --> 01:25:31,321 COMPANIES THAT ARE PLANNING TO 2254 01:25:31,321 --> 01:25:36,393 LAUNCH PHASE 1/2 TRIALS NEXT 2255 01:25:36,393 --> 01:25:37,360 YEAR. 2256 01:25:37,360 --> 01:25:38,895 SO THAT INFORMS A LOT OF THE 2257 01:25:38,895 --> 01:25:40,597 DIRECTION THAT WE NEED TO GO AS 2258 01:25:40,597 --> 01:25:45,035 A SOCIETY. 2259 01:25:45,035 --> 01:25:46,603 SO OUR INTERNATIONAL RESEARCH 2260 01:25:46,603 --> 01:25:47,604 CONGRESS TOOK PLACE THIS PAST 2261 01:25:47,604 --> 01:25:49,205 JUNE IN MILAN, ITALY. 2262 01:25:49,205 --> 01:25:50,907 YOU CAN SEE THAT WE HAVE A 2263 01:25:50,907 --> 01:25:52,208 GROWING NUMBER OF 2264 01:25:52,208 --> 01:25:53,076 BIOPHARMACEUTICAL COMPANIES 2265 01:25:53,076 --> 01:25:54,411 INVOLVED IN ATTENDING AND 2266 01:25:54,411 --> 01:25:59,416 SPONSORING THE MEETING. 2267 01:25:59,416 --> 01:26:02,752 AND WE HAD 240 PARTICIPANTS. 2268 01:26:02,752 --> 01:26:04,354 160 IN PERSON AND ABOUT 80 2269 01:26:04,354 --> 01:26:05,555 VIRTUAL. 2270 01:26:05,555 --> 01:26:06,990 THERE WERE 15 COMPANIES WHO 2271 01:26:06,990 --> 01:26:07,424 ATTENDED. 2272 01:26:07,424 --> 01:26:10,994 WE HAD 26 ORAL PRESENTATIONS, A 2273 01:26:10,994 --> 01:26:12,729 PANEL DISCUSSION, AND 2274 01:26:12,729 --> 01:26:13,463 73 POSTERS. 2275 01:26:13,463 --> 01:26:14,698 AND PRIOR TO THE MEETING, THE 2276 01:26:14,698 --> 01:26:16,633 DAY BEFORE, WE HAD AN INDUSTRY 2277 01:26:16,633 --> 01:26:17,867 COLLABORATIVE MEETING WITH I 2278 01:26:17,867 --> 01:26:20,971 THINK MAYBE 40 KEY OPINION 2279 01:26:20,971 --> 01:26:23,306 LEADERS AND INDUSTRY 2280 01:26:23,306 --> 01:26:24,341 REPRESENTATIVES, PATIENT 2281 01:26:24,341 --> 01:26:26,609 ADVOCACY REPRESENTATIVES. 2282 01:26:26,609 --> 01:26:27,777 AND THE DAY AFTER THE MEETING, 2283 01:26:27,777 --> 01:26:29,612 WE HAD A WORLD ALLIANCE MEETING 2284 01:26:29,612 --> 01:26:32,315 OF FSHD PATIENT ADVOCACY 2285 01:26:32,315 --> 01:26:33,516 ORGANIZATIONS FROM MORE THAN TWO 2286 01:26:33,516 --> 01:26:37,587 DOZEN COUNTRIES. 2287 01:26:37,587 --> 01:26:40,423 SO OUR 2023 IRC ORGANIZING 2288 01:26:40,423 --> 01:26:45,662 COMMITTEE WAS CHAIRED BY DAVIDE 2289 01:26:45,662 --> 01:26:46,830 AND NICOL. 2290 01:26:46,830 --> 01:26:48,231 WE ALWAYS HAVE A BASIC 2291 01:26:48,231 --> 01:26:49,299 RESEARCHER AND CLINICAL 2292 01:26:49,299 --> 01:26:50,500 RESEARCHER CHAIR THESE 2293 01:26:50,500 --> 01:26:50,800 COMMITTEES. 2294 01:26:50,800 --> 01:26:52,068 IT WAS ONE OF OUR MOST DIVERSE 2295 01:26:52,068 --> 01:26:53,436 TO DATE. 2296 01:26:53,436 --> 01:26:55,805 WE HAD COMMITTEE MEMBERS FROM 2297 01:26:55,805 --> 01:26:58,408 ARGENTINA, BELGIUM, TURKEY, 2298 01:26:58,408 --> 01:27:01,011 NETHERLANDS, ITALY, AND U.S. 2299 01:27:01,011 --> 01:27:04,481 I THINK THAT THE GROWING 2300 01:27:04,481 --> 01:27:05,348 INTERNATIONAL PARTICIPATION IS 2301 01:27:05,348 --> 01:27:06,716 VERY IMPORTANT, ESPECIALLY IN A 2302 01:27:06,716 --> 01:27:09,519 RARE DISEASE. 2303 01:27:09,519 --> 01:27:10,720 OUR UNOFFICIAL THEME THIS YEAR 2304 01:27:10,720 --> 01:27:13,790 WAS PEDIATRIC FSHD. 2305 01:27:13,790 --> 01:27:15,225 FOR THE FIRST TIME WE HAD A 2306 01:27:15,225 --> 01:27:18,395 SESSION DEVOTED TO THIS TOPIC. 2307 01:27:18,395 --> 01:27:20,997 AND OUR OPENING KEYNOTE WAS 2308 01:27:20,997 --> 01:27:25,435 GIVEN BY JAYA MOTTA, AN ITALIAN 2309 01:27:25,435 --> 01:27:27,237 COLLEGE STUDENT STUDYING 2310 01:27:27,237 --> 01:27:27,804 BIOMECHANICS. 2311 01:27:27,804 --> 01:27:29,906 HE WAS ADOPTED AS AN INFANT FROM 2312 01:27:29,906 --> 01:27:32,042 NEPAL AND DIAGNOSED WITH EARLY 2313 01:27:32,042 --> 01:27:32,509 ONSET FSHD. 2314 01:27:32,509 --> 01:27:34,744 HE HAS USED A WHEELCHAIR SINCE I 2315 01:27:34,744 --> 01:27:36,179 THINK AROUND THE AGE OF 14, AND 2316 01:27:36,179 --> 01:27:40,250 HE CREDITS PHYSICAL THERAPY FOR 2317 01:27:40,250 --> 01:27:42,786 HIS CURRENT HEALTH AND POSITIVE 2318 01:27:42,786 --> 01:27:43,086 ATTITUDE. 2319 01:27:43,086 --> 01:27:45,488 HE'S WORKING ON A DEGREE IN 2320 01:27:45,488 --> 01:27:48,058 ENGINEERING AND HE HOPES TO BE 2321 01:27:48,058 --> 01:27:49,325 INVOLVED IN INVENTING 2322 01:27:49,325 --> 01:27:50,527 TECHNOLOGIES TO HELP PEOPLE WITH 2323 01:27:50,527 --> 01:27:51,861 DISABILITIES. 2324 01:27:51,861 --> 01:27:54,664 SO HE HAS A PURPOSE, HE HAS A 2325 01:27:54,664 --> 01:27:57,333 VERY SUPPORTIVE ITALIAN FAMILY. 2326 01:27:57,333 --> 01:27:59,536 AND I THINK HIS STORY 2327 01:27:59,536 --> 01:28:00,203 ILLUSTRATES THE IMPORTANCE OF 2328 01:28:00,203 --> 01:28:01,504 LOOKING AT MULTIPLE FACTORS THAT 2329 01:28:01,504 --> 01:28:03,273 GO INTO WELL-BEING. 2330 01:28:03,273 --> 01:28:05,542 AND THAT'S ALSO A POINT THAT WAS 2331 01:28:05,542 --> 01:28:09,979 UNDERSCORED BY OUR FIRST KEYNOTE 2332 01:28:09,979 --> 01:28:15,585 SPEAKER, BAZIEL VAN ENGELEN. 2333 01:28:15,585 --> 01:28:16,252 BAZIEL PROVIDED A BEAUTIFUL 2334 01:28:16,252 --> 01:28:22,092 REVIEW OF THE WORK BY THE DUTCH 2335 01:28:22,092 --> 01:28:23,059 OVER THE PAST DECADE. 2336 01:28:23,059 --> 01:28:24,661 THEY HAVE BEEN AT THE FOREFRONT 2337 01:28:24,661 --> 01:28:25,728 OF FSHD RESEARCH, LEADING THE 2338 01:28:25,728 --> 01:28:28,865 WAY IN GENETICS, MRI AND 2339 01:28:28,865 --> 01:28:30,700 ULTRASOUND IMAGING, AND TRIAL 2340 01:28:30,700 --> 01:28:32,469 READINESS WITH ADULT AND 2341 01:28:32,469 --> 01:28:33,436 PEDIATRIC NATURAL HISTORY 2342 01:28:33,436 --> 01:28:35,205 STUDIES NOW WITH 10 YEARS OF 2343 01:28:35,205 --> 01:28:37,841 DATA. 2344 01:28:37,841 --> 01:28:40,243 HE ALSO PRESENTED A BROADER VIEW 2345 01:28:40,243 --> 01:28:41,778 OF FSHD AS NOT JUST AN ORGANIC 2346 01:28:41,778 --> 01:28:42,812 DISEASE OF MUSCLE BUT AN 2347 01:28:42,812 --> 01:28:44,681 EXPERIENCE OF ILLNESS. 2348 01:28:44,681 --> 01:28:48,418 PAIN, FATIGUE, ANXIETY AND SLEEP 2349 01:28:48,418 --> 01:28:49,919 DISTURBANCE BY INDIVIDUALS ALONG 2350 01:28:49,919 --> 01:28:51,454 WITH THE ADDED BURDEN PLACED ON 2351 01:28:51,454 --> 01:28:54,557 THEM BY SOCIETY. 2352 01:28:54,557 --> 01:28:55,792 THE DUTCH RESEARCHERS HAVE LED 2353 01:28:55,792 --> 01:28:56,993 THE WAY IN STUDYING 2354 01:28:56,993 --> 01:28:59,929 INTERVENTIONS SUCH AS EXERCISE 2355 01:28:59,929 --> 01:29:00,697 AND COGNITIVE BEHAVIORAL THERAPY 2356 01:29:00,697 --> 01:29:02,866 TO REDUCE FATIGUE, TARGETED 2357 01:29:02,866 --> 01:29:07,170 PHYSICAL THERAPY TO ADDRESS 2358 01:29:07,170 --> 01:29:09,672 ISSUES LIKE SHOULDER DYSKINESIA 2359 01:29:09,672 --> 01:29:10,807 AND MENTAL HEALTH INTERVENTIONS 2360 01:29:10,807 --> 01:29:12,709 FOR BOTH ADULTS AND CHILDREN TO 2361 01:29:12,709 --> 01:29:14,077 REDUCE THE BURDEN OF DISEASE. 2362 01:29:14,077 --> 01:29:16,646 ANOTHER IMPORTANT POINT MADE BY 2363 01:29:16,646 --> 01:29:18,748 DR. VAN ENGELEN SHOWN IN THIS 2364 01:29:18,748 --> 01:29:21,151 DIAGRAM HERE IS THAT TO BE 2365 01:29:21,151 --> 01:29:22,585 EFFECTIVE IN DEVELOPING BETTER 2366 01:29:22,585 --> 01:29:23,486 TREATMENTS, IT'S IMPORTANT TO 2367 01:29:23,486 --> 01:29:24,487 CONSIDER FSHD FROM THE 2368 01:29:24,487 --> 01:29:25,421 PERSPECTIVE OF MANY 2369 01:29:25,421 --> 01:29:27,824 STAKEHOLDERS. 2370 01:29:27,824 --> 01:29:30,059 OUR SECOND PRESENTATION WAS 2371 01:29:30,059 --> 01:29:34,764 GIVEN BY BENEDICTE CHASZAUD IN 2372 01:29:34,764 --> 01:29:36,332 LEON, FRANCE. 2373 01:29:36,332 --> 01:29:37,667 SHE PRESENTED HER EXTENSIVE 2374 01:29:37,667 --> 01:29:38,768 RESEARCH ON THE ROLE OF THE 2375 01:29:38,768 --> 01:29:40,503 IMMUNE SYSTEM IN NORMAL MUSCLE 2376 01:29:40,503 --> 01:29:41,738 REGENERATION, AND IN DUCHENNE 2377 01:29:41,738 --> 01:29:43,673 MUSCULAR DYSTROPHY. 2378 01:29:43,673 --> 01:29:46,109 HER STUDIES FOCUSED ON 2379 01:29:46,109 --> 01:29:47,544 MACROPHAGES, WHICH INITIALLY 2380 01:29:47,544 --> 01:29:49,078 EXHIBIT PRO-INFLAMMATORY 2381 01:29:49,078 --> 01:29:50,580 PROPERTIES TO CLEAN OUT DAMAGED 2382 01:29:50,580 --> 01:29:53,316 MUSCLE TISSUE, AND THEN LATER 2383 01:29:53,316 --> 01:29:56,686 SWITCHED TO REGENERATION 2384 01:29:56,686 --> 01:29:58,188 FAVORING TYPE THROUGH CYTOKINE 2385 01:29:58,188 --> 01:30:00,723 AND GROWTH FACTORS. 2386 01:30:00,723 --> 01:30:02,825 AND A GROWING BODY OF EVIDENCE 2387 01:30:02,825 --> 01:30:05,261 SUGGESTS THESE MECHANISMS MAY 2388 01:30:05,261 --> 01:30:10,867 ALSO BE ALTERED IN FSHD. 2389 01:30:10,867 --> 01:30:12,468 OUR FIRST SESSION ON DISEASE 2390 01:30:12,468 --> 01:30:13,403 MECHANISM -- DISCOVERY RESEARCH 2391 01:30:13,403 --> 01:30:18,608 AND GENETICS WAS CHAIRED BY 2392 01:30:18,608 --> 01:30:25,315 DAVIDE AND DARKO. 2393 01:30:25,315 --> 01:30:29,352 IDUX HSA EXPRESSES MOUSE DUX IN 2394 01:30:29,352 --> 01:30:30,286 MYOFIBERS. 2395 01:30:30,286 --> 01:30:31,955 COMPARED TO CURRENT FSHD MOUSE 2396 01:30:31,955 --> 01:30:34,023 MODELS BASED ON HUMAN DUX4 GENE 2397 01:30:34,023 --> 01:30:34,991 EXPRESSION. 2398 01:30:34,991 --> 01:30:36,559 THESE DATA INDICATE THE MOUSE 2399 01:30:36,559 --> 01:30:39,329 AND HUMAN PROTEINS DRIVE SIMILAR 2400 01:30:39,329 --> 01:30:46,302 PATHOLOGICAL PATHWAYS IN VIVO. 2401 01:30:46,302 --> 01:30:47,870 INTERPLAY BETWEEN DUX4 AND 2402 01:30:47,870 --> 01:30:49,973 HERPES VIRUS IN VITRO AND IN 2403 01:30:49,973 --> 01:30:50,173 VIVO. 2404 01:30:50,173 --> 01:30:52,508 THAT WAS INTRIGUING BECAUSE IT'S 2405 01:30:52,508 --> 01:30:55,712 THOUGHT THAT FSHD INVOLVES AN 2406 01:30:55,712 --> 01:31:01,618 INTERPLAY OF THE GENETIC -- WITH 2407 01:31:01,618 --> 01:31:02,552 SOME SORT OF ENVIRONMENTAL HIT 2408 01:31:02,552 --> 01:31:05,255 OR OTHER GENETIC HITS. 2409 01:31:05,255 --> 01:31:06,956 AMELIA FOX FROM ST. LOUIS 2410 01:31:06,956 --> 01:31:13,396 UNIVERSITY DISCUSSED THE SIX 2411 01:31:13,396 --> 01:31:17,533 PROTEIN AS KEY REGULATORS OF 2412 01:31:17,533 --> 01:31:20,069 DUX4 GENE EXPRESSION. 2413 01:31:20,069 --> 01:31:26,843 MACWDR5 CHROMATIN REMODELING 2414 01:31:26,843 --> 01:31:28,645 PROTEIN AS A POTENTIAL DRUGGABLE 2415 01:31:28,645 --> 01:31:35,451 TARGET FOR FSHD. 2416 01:31:35,451 --> 01:31:38,655 652 PREVIOUSLY UNKNOWN 2417 01:31:38,655 --> 01:31:40,657 INTERGENIC LOCI ACTIVATED BY 2418 01:31:40,657 --> 01:31:42,358 DUX4, OF WHICH HALF CONTAIN 2419 01:31:42,358 --> 01:31:43,793 POTENTIAL DUX4 BINDING SITES. 2420 01:31:43,793 --> 01:31:46,062 THESE FINDINGS CAN BE UTILIZED 2421 01:31:46,062 --> 01:31:48,398 TO IDENTIFY POTENTIAL NOVEL 2422 01:31:48,398 --> 01:31:49,265 BIOMARKERS FOR DISEASE 2423 01:31:49,265 --> 01:31:50,767 DIAGNOSIS, PROGRESSION AND 2424 01:31:50,767 --> 01:31:53,536 THERAPEUTIC INTERVENTION. 2425 01:31:53,536 --> 01:31:54,604 JOEL CHAMBERLAIN FROM THE 2426 01:31:54,604 --> 01:31:55,171 UNIVERSITY OF WASHINGTON 2427 01:31:55,171 --> 01:31:57,940 DISCUSSED A NOVEL FSHD BIOMARKER 2428 01:31:57,940 --> 01:31:59,275 INITIATED BY GENE EXPRESSION 2429 01:31:59,275 --> 01:32:00,910 PROFILING OF A MOUSE MODEL 2430 01:32:00,910 --> 01:32:02,312 EXPRESSING DUX4. 2431 01:32:02,312 --> 01:32:03,413 NEUTROPHIL ACTIVATION WAS 2432 01:32:03,413 --> 01:32:05,348 IDENTIFIED AS AN ALTERED 2433 01:32:05,348 --> 01:32:06,816 PATHWAY, AND SIMILAR PATTERNS 2434 01:32:06,816 --> 01:32:08,251 WERE SEEN IN FSHD PATIENTS AS 2435 01:32:08,251 --> 01:32:11,354 COMPARED TO CONTROLS. 2436 01:32:11,354 --> 01:32:14,524 FINALLY, IN THE SESSION, RICHARD 2437 01:32:14,524 --> 01:32:16,192 PRESENTED RESULTS ON FSHD 2438 01:32:16,192 --> 01:32:17,360 MOLECULAR TESTING CONDUCTED IN 2439 01:32:17,360 --> 01:32:19,662 INDIA. 2440 01:32:19,662 --> 01:32:20,997 THE RESULTS SUGGEST THAT PEOPLE 2441 01:32:20,997 --> 01:32:23,232 OF INDIAN DESCENT HAVE LOWER 2442 01:32:23,232 --> 01:32:25,034 CLINICAL SUSCEPTIBILITY THAN 2443 01:32:25,034 --> 01:32:26,469 EUROPEAN-BASED PATIENTS. 2444 01:32:26,469 --> 01:32:30,373 BASED ON THE SIZE OF THEIR FSHD 2445 01:32:30,373 --> 01:32:31,074 1 ALLELE REPEAT. 2446 01:32:31,074 --> 01:32:34,644 AND LARGER EPIDEMIOLOGICAL STU 2447 01:32:34,644 --> 01:32:36,245 STUDIES IN MORE DIVERSE 2448 01:32:36,245 --> 01:32:37,880 POPULATIONS COULD INFORM ABOUT 2449 01:32:37,880 --> 01:32:40,616 POTENTIAL FACTORS AFFECTING FSHD 2450 01:32:40,616 --> 01:32:43,586 SUSCEPTIBILITY. 2451 01:32:43,586 --> 01:32:45,521 IN OUR SECOND SESSION THAT WAS 2452 01:32:45,521 --> 01:32:49,992 MODERATED BY KATE EICHINGER AND 2453 01:32:49,992 --> 01:32:54,964 MAW ROW MONFORTE, TALKS PROVIDED 2454 01:32:54,964 --> 01:32:55,965 AN OVERVIEW OF DIFFERENT 2455 01:32:55,965 --> 01:32:57,333 TECHNIQUES THAT ARE BEING 2456 01:32:57,333 --> 01:33:00,269 DEVELOPED TO ASSESS THE SEVERITY 2457 01:33:00,269 --> 01:33:03,740 OF PROGRESSION OF FSHD. 2458 01:33:03,740 --> 01:33:05,141 COMPARING ULTRASOUND AND MRI IN 2459 01:33:05,141 --> 01:33:06,576 A LONGITUDINAL STUDY. 2460 01:33:06,576 --> 01:33:07,477 RESULTS SUGGEST THAT ULTRASOUND 2461 01:33:07,477 --> 01:33:09,312 IS BETTER IN DETECTING EARLY 2462 01:33:09,312 --> 01:33:11,214 MUSCLE CHANGES, WHILE MRI 2463 01:33:11,214 --> 01:33:14,517 APPEARS MORE SENSITIVE AT 2464 01:33:14,517 --> 01:33:15,551 TRACKING CHANGES MORE 2465 01:33:15,551 --> 01:33:18,654 INTERMEDIATELY AN IN SEVERELY 2466 01:33:18,654 --> 01:33:20,223 AFFECTED MUSCLES. 2467 01:33:20,223 --> 01:33:22,492 FINDINGS OF A 24 MONTH 2468 01:33:22,492 --> 01:33:23,826 LONGITUDAL MRI STUDY THAT FOUND 2469 01:33:23,826 --> 01:33:25,795 PROMISING CORRELATIONS BETWEEN 2470 01:33:25,795 --> 01:33:27,397 CLINICAL AND MRI ASSESSMENTS. 2471 01:33:27,397 --> 01:33:31,234 IN ADDITION, THE PRESENCE OF -- 2472 01:33:31,234 --> 01:33:32,969 CONFIRMED PREVIOUS FINDINGS THAT 2473 01:33:32,969 --> 01:33:35,204 CORRELATE EDEMA AND SUBSEQUENT 2474 01:33:35,204 --> 01:33:37,507 TEASE PROGRESSION. 2475 01:33:37,507 --> 01:33:39,342 DISEASE PROGRESSION. 2476 01:33:39,342 --> 01:33:40,910 CHEN OF THE CHILDREN'S NATIONAL 2477 01:33:40,910 --> 01:33:42,445 MEDICAL CENTER IN WASHINGTON 2478 01:33:42,445 --> 01:33:43,980 FOCUSED ON CIRCULATING 2479 01:33:43,980 --> 01:33:45,448 BIOMARKERS DESCRIBING 2480 01:33:45,448 --> 01:33:46,916 DIFFERENTIALLY EXPRESSED 2481 01:33:46,916 --> 01:33:48,751 PROTEINS AND MICRORNAs BETWEEN 2482 01:33:48,751 --> 01:33:50,520 PATIENTS AND CONTROLS IN A 2483 01:33:50,520 --> 01:33:52,355 COHORT OF EARLY ONSET FSHD 2484 01:33:52,355 --> 01:33:53,322 SUBJECTS. 2485 01:33:53,322 --> 01:33:54,924 AND A NUMBER OF PROMISING 2486 01:33:54,924 --> 01:33:56,259 CANDIDATES WERE IDENTIFIED AND 2487 01:33:56,259 --> 01:33:59,495 THEIR VALIDATION IS PENDING. 2488 01:33:59,495 --> 01:34:02,365 IN OUR THIRD SESSION, ON DISEASE 2489 01:34:02,365 --> 01:34:04,901 MECHANISM AND INTERVENTIONAL 2490 01:34:04,901 --> 01:34:07,403 STRATEGIES, THAT'S SESSION WAS 2491 01:34:07,403 --> 01:34:11,441 CHAIRED BY ALEXANDRA AND ALBERTO 2492 01:34:11,441 --> 01:34:13,109 ROSA. 2493 01:34:13,109 --> 01:34:16,078 STUDIES HIGHLIGHTED THE 2494 01:34:16,078 --> 01:34:17,713 POTENTIAL ROLE OF THE IMMUNE 2495 01:34:17,713 --> 01:34:23,619 SYSTEM IN FSHD. 2496 01:34:23,619 --> 01:34:25,354 TRANSCRIPTOMIC AND HISTOLOGICAL 2497 01:34:25,354 --> 01:34:27,290 ANALYSES OF FSHD PATIENT 2498 01:34:27,290 --> 01:34:28,057 BIOPSIES. 2499 01:34:28,057 --> 01:34:29,425 THE CLINICAL SEVERITY CORRELATED 2500 01:34:29,425 --> 01:34:31,727 WITH MARKERS OF QUIESCENT 2501 01:34:31,727 --> 01:34:33,095 SATELLITE CELLS AND EARLY BUT 2502 01:34:33,095 --> 01:34:36,232 NOT LATE MYOGENESIS. 2503 01:34:36,232 --> 01:34:37,500 WHICH SUGGESTS INCOMPLETE MUSCLE 2504 01:34:37,500 --> 01:34:43,806 REGENERATION IN FSHD PATIENTS. 2505 01:34:43,806 --> 01:34:46,108 PROTEIN PARTNERS THAT COPURIFY 2506 01:34:46,108 --> 01:34:48,845 WITH DUX4 OR ITS HOMOLOGUE, DUX4 2507 01:34:48,845 --> 01:34:52,682 C, AND PROPOSED A DUX4 2508 01:34:52,682 --> 01:34:53,816 COMPETITION FOR PROTEIN PARTNERS 2509 01:34:53,816 --> 01:34:55,651 MIGHT BE A NEW TOXICITY 2510 01:34:55,651 --> 01:35:01,657 MECHANISM IN FSHD. 2511 01:35:01,657 --> 01:35:03,426 E3 UBIQUITIN LIGASE AS A PROTEIN 2512 01:35:03,426 --> 01:35:05,428 PARTNER OF DUX4, AND PRESENTED 2513 01:35:05,428 --> 01:35:07,196 DATA SUGGESTING THAT DUX4 COULD 2514 01:35:07,196 --> 01:35:09,499 BE EU BIC NATEED AND DEGRADED BY 2515 01:35:09,499 --> 01:35:11,133 THE PROTEASOME. 2516 01:35:11,133 --> 01:35:13,469 SCOTT HARPER OF NATIONWIDE 2517 01:35:13,469 --> 01:35:14,837 CHILDREN'S HOSPITAL CONCLUDED 2518 01:35:14,837 --> 01:35:16,138 THE SESSION WITH A TALK ON THE 2519 01:35:16,138 --> 01:35:19,675 DEVELOPMENT OF A CRISPR COMPLEX 2520 01:35:19,675 --> 01:35:21,878 COMPRISING OF DEAD CAS13 THAT 2521 01:35:21,878 --> 01:35:24,380 TARGETS RNA INSTEAD OF DNA. 2522 01:35:24,380 --> 01:35:26,949 AND WHEN INFUSED TO ADAR, A BASE 2523 01:35:26,949 --> 01:35:30,019 MODIFYING ENZYME, THE AUTHORS 2524 01:35:30,019 --> 01:35:30,953 AIM TO INTRODUCE STOP CODONS 2525 01:35:30,953 --> 01:35:35,091 INTO THE DUX4 MRNA. 2526 01:35:35,091 --> 01:35:36,359 THEREBY PREVENTING THE SYNTHESIS 2527 01:35:36,359 --> 01:35:41,230 OF THE TOXIC DUX4 PROTEIN. 2528 01:35:41,230 --> 01:35:45,902 IN OUR FOURTH SESSION, MODERATED 2529 01:35:45,902 --> 01:35:49,105 BY NICOL AND PIRAYE, THEY 2530 01:35:49,105 --> 01:35:50,506 PRESENTED SOME ONGOING AND 2531 01:35:50,506 --> 01:35:53,476 PLANNED TRIAL DESIGNS IN FSHD. 2532 01:35:53,476 --> 01:35:57,513 LEO WANG AND MARIE HELEN 2533 01:35:57,513 --> 01:36:00,082 PRESENTED THE RESULTS OF THE 2534 01:36:00,082 --> 01:36:09,825 REDUCTDUX4 WITH A P38 KINASE 2535 01:36:09,825 --> 01:36:10,159 INHIBITOR. 2536 01:36:10,159 --> 01:36:14,163 THEY PROVIDED DETAILS ON A 48 2537 01:36:14,163 --> 01:36:15,531 WEEK PLACEBO CONTROLLED AND 2538 01:36:15,531 --> 01:36:17,433 FOLLOW ON 48 WEEK OPEN LABEL 2539 01:36:17,433 --> 01:36:18,901 EXTENSION OF THE PHASE TWO 2540 01:36:18,901 --> 01:36:19,101 TRIAL. 2541 01:36:19,101 --> 01:36:20,469 A TOTAL OF 76 PATIENTS AND 2542 01:36:20,469 --> 01:36:22,004 CONTROLS WERE FOLLOWED FOR 2543 01:36:22,004 --> 01:36:22,672 96 WEEKS. 2544 01:36:22,672 --> 01:36:24,674 CHANGES IN A FUNCTIONAL OUT COME 2545 01:36:24,674 --> 01:36:26,375 CALLED REACHABLE WORK SPACE OR 2546 01:36:26,375 --> 01:36:28,444 RWS INDICATED SLOWING OF DISEASE 2547 01:36:28,444 --> 01:36:30,713 PROGRESSION. 2548 01:36:30,713 --> 01:36:31,914 AND RWS FOR THOSE OF YOU WHO 2549 01:36:31,914 --> 01:36:33,816 AREN'T FAMILIAR WITH IT, 2550 01:36:33,816 --> 01:36:34,784 QUANTIFIES THE CHANGE OF MOTION 2551 01:36:34,784 --> 01:36:37,820 OF THE ARMS IN THREE-DIMENSIONAL 2552 01:36:37,820 --> 01:36:39,488 SPACE. 2553 01:36:39,488 --> 01:36:41,390 PHASE 3 PLACEBO CONTROLLED 48 2554 01:36:41,390 --> 01:36:44,961 WEEK TRIAL CALLED REACH HAS 2555 01:36:44,961 --> 01:36:47,830 SINCE BEEN LAUNCHED, AND WITH A 2556 01:36:47,830 --> 01:36:49,131 PRIMARY END POINT OF REACHABLE 2557 01:36:49,131 --> 01:36:50,399 WORK SPACE AND SECONDARY END 2558 01:36:50,399 --> 01:36:52,535 POINTS OF MUSCLE FAT FACTION AND 2559 01:36:52,535 --> 01:36:55,705 MUSCLE FAT INFILTRATION. 2560 01:36:55,705 --> 01:36:57,006 AND THAT STUDY COMPLETED 2561 01:36:57,006 --> 01:36:59,775 ENROLLMENT THIS PAST SEPTEMBER. 2562 01:36:59,775 --> 01:37:01,944 IT'S A 48-WEEK TRIAL AND WITH 2563 01:37:01,944 --> 01:37:04,146 DATA COLLECTION THEN EXPECTED TO 2564 01:37:04,146 --> 01:37:10,720 BE COMPLETED BY AUGUST OF 2024. 2565 01:37:10,720 --> 01:37:13,289 AMY OF AVIDITY BIOSCIENCES 2566 01:37:13,289 --> 01:37:15,157 PRESENTED THE TRIAL DESIGN FOR 2567 01:37:15,157 --> 01:37:19,762 FORTITUDE, A STUDY OF AOC1020, 2568 01:37:19,762 --> 01:37:22,965 AN ANTIBODY OLIGONUKE CLEE TIED 2569 01:37:22,965 --> 01:37:24,500 CONGREGATE THAT CONSISTS OF DUX4 2570 01:37:24,500 --> 01:37:27,503 TARGETING SI RNA LINKED TO A 2571 01:37:27,503 --> 01:37:29,472 HUMANIZED ANS TRANSFERRIN 2572 01:37:29,472 --> 01:37:30,539 RECEPTOR ANTIBODY. 2573 01:37:30,539 --> 01:37:32,708 FORTITUDE IS A DOUBLE BLIND 2574 01:37:32,708 --> 01:37:34,910 PHASE 1/2 TRIAL IN 72 2575 01:37:34,910 --> 01:37:37,880 GENETICALLY CONFIRMED FSHD 1 AND 2576 01:37:37,880 --> 01:37:40,049 FSHD 2 ADULT PATIENTS. 2577 01:37:40,049 --> 01:37:40,950 THE PRIMARY END POINTS OF THE 2578 01:37:40,950 --> 01:37:42,151 STUDY ARE SAFETY AND 2579 01:37:42,151 --> 01:37:44,020 TOLERABILITY. 2580 01:37:44,020 --> 01:37:46,989 AND EXPLORATORY BIOMARKER 2581 01:37:46,989 --> 01:37:48,624 READOUTS INCLUDE MRI AND DUX4 2582 01:37:48,624 --> 01:37:49,859 REGULATED GENE PANELS, AS WELL 2583 01:37:49,859 --> 01:37:51,060 AS CLINICAL END POINTS 2584 01:37:51,060 --> 01:37:52,395 CONSISTING OF REACHABLE WORK 2585 01:37:52,395 --> 01:37:54,563 SPACE AND VARIOUS FUNCTIONAL 2586 01:37:54,563 --> 01:37:55,464 MOBILITY AND STRENGTH 2587 01:37:55,464 --> 01:37:59,035 MEASUREMENTS. 2588 01:37:59,035 --> 01:38:03,673 THE THIRD TRIAL DESCRIBED WAS BN 2589 01:38:03,673 --> 01:38:05,307 BEHALF OF ROCHE PHARMACEUTICALS. 2590 01:38:05,307 --> 01:38:10,146 THIS WAS A TRIAL OF GYM329, A 2591 01:38:10,146 --> 01:38:13,816 LONG LASTING MONOCLONAL 2592 01:38:13,816 --> 01:38:14,350 ANTIMYOSTATIN ANTIBODY. 2593 01:38:14,350 --> 01:38:16,052 THE TRIAL WAS CALLED MANEUVER, 2594 01:38:16,052 --> 01:38:18,554 AND IT'S IN A PHASE 3 -- I'M 2595 01:38:18,554 --> 01:38:20,623 SORRY -- PHASE 2 PLACEBO 2596 01:38:20,623 --> 01:38:22,792 CONTROLLED DOUBLE BLIND STUDY IN 2597 01:38:22,792 --> 01:38:25,094 AMBULATORY ADULTS WITH 2598 01:38:25,094 --> 01:38:27,163 GENETICALLY CONFIRMED FSHD 1 AND 2599 01:38:27,163 --> 01:38:28,464 FSHD 2. 2600 01:38:28,464 --> 01:38:29,532 PARTICIPANTS WILL BE 2601 01:38:29,532 --> 01:38:31,200 ADMINISTERED THE DRUG 2602 01:38:31,200 --> 01:38:31,867 SUBCUTANEOUSLY EVERY FOUR WEEKS 2603 01:38:31,867 --> 01:38:35,471 FOR A TOTAL OF 52 WEEKS. 2604 01:38:35,471 --> 01:38:38,774 AND THE ASSESSMENTS INCLUDE 2605 01:38:38,774 --> 01:38:39,408 PHARMACOKINETIC MEASURES FOR 2606 01:38:39,408 --> 01:38:43,045 SAFETY AND TOLERABILITY WITH A 2607 01:38:43,045 --> 01:38:45,147 PRIMARY END POINT OF CHANGES IN 2608 01:38:45,147 --> 01:38:46,615 CONTRACTILE MUSCLE TISSUES A 2609 01:38:46,615 --> 01:38:48,918 MEASURED BY MRI AS WELL AS 2610 01:38:48,918 --> 01:38:49,719 EXPLORATORY FUNCTIONAL END 2611 01:38:49,719 --> 01:38:50,886 POINTS SUCH AS REACHABLE WORK 2612 01:38:50,886 --> 01:38:51,520 SPACE. 2613 01:38:51,520 --> 01:38:52,421 RECRUITMENT FOR THAT TRIAL IS 2614 01:38:52,421 --> 01:38:52,755 ONGOING. 2615 01:38:52,755 --> 01:38:53,923 THE FINAL PRESENTATION IN THE 2616 01:38:53,923 --> 01:38:59,395 SESSION WAS BY DELILAH IN 2617 01:38:59,395 --> 01:38:59,862 FRANCE. 2618 01:38:59,862 --> 01:39:03,099 SHE PRESENTED RESULTS FROM A 2619 01:39:03,099 --> 01:39:04,100 PERSONALIZED NEUTROCEUTICAL 2620 01:39:04,100 --> 01:39:06,802 STUDY AIMED AT MITIGATING THE 2621 01:39:06,802 --> 01:39:09,472 OXIDATIVE STRESS RESPONSE SEEN 2622 01:39:09,472 --> 01:39:10,005 IN FSHD. 2623 01:39:10,005 --> 01:39:12,708 IN THEIR PILOT TRIAL IN 54 2624 01:39:12,708 --> 01:39:14,376 PATIENTS, THESE PERSONALIZED 2625 01:39:14,376 --> 01:39:16,579 COMBINATIONS OF ANTIOX TANT 2626 01:39:16,579 --> 01:39:18,280 DREETMENTS REDUCED MARKERS OF 2627 01:39:18,280 --> 01:39:20,316 OXIDATIVE STRESS, INCREASED 2628 01:39:20,316 --> 01:39:21,584 ENDOGENOUS ANTIOXIDANT DEFENSES, 2629 01:39:21,584 --> 01:39:23,319 AND IMPROVED FUNCTIONAL 2630 01:39:23,319 --> 01:39:25,020 OUTCOMES, SUCH AS A 2-MINUTE 2631 01:39:25,020 --> 01:39:28,224 WALK TEST AND MAXIMUM ISOMETRIC 2632 01:39:28,224 --> 01:39:29,458 VOLUNTARY CONTRACTION, AND 2633 01:39:29,458 --> 01:39:33,562 ENDURNSENDURANCE OF QUADRICEPS . 2634 01:39:33,562 --> 01:39:36,732 IN A THREE-YEAR LONGITUDAL STUDY 2635 01:39:36,732 --> 01:39:40,436 CALLED PERSPECTIVE, HAFT OF THE 2636 01:39:40,436 --> 01:39:42,037 74 PARTICIPANTS WHO MAINTAINED 2637 01:39:42,037 --> 01:39:43,439 THE REGIMENT OF SUPPLEMENTS 2638 01:39:43,439 --> 01:39:44,507 SHOWED STABILIZATION ACROSS SOME 2639 01:39:44,507 --> 01:39:45,608 OF THESE FUNCTIONS. 2640 01:39:45,608 --> 01:39:46,709 AND CURRENTLY HER GROUP IS 2641 01:39:46,709 --> 01:39:49,578 DEVELOPING SOFTWARE TO CUSTOMIZE 2642 01:39:49,578 --> 01:39:50,679 SUPPLEMENT REGIMENS FOR 2643 01:39:50,679 --> 01:39:51,814 INDIVIDUAL PATIENTS. 2644 01:39:51,814 --> 01:39:52,815 THE 2023 CONGRESS CONCLUDED WITH 2645 01:39:52,815 --> 01:39:55,317 A SPECIAL SESSION ON PEDIATRIC 2646 01:39:55,317 --> 01:39:57,319 FSHD, A NEGLECTED AREA OF 2647 01:39:57,319 --> 01:39:58,120 RESEARCH WITH SIGNIFICANT 2648 01:39:58,120 --> 01:40:00,389 POTENTIAL IMPACT FOR FUTURE DRUG 2649 01:40:00,389 --> 01:40:01,624 DEVELOPMENT. 2650 01:40:01,624 --> 01:40:03,659 CORY HIGHLIGHTED A 2651 01:40:03,659 --> 01:40:04,927 MULTI-YEARLONG TEUDAL PEDIATRIC 2652 01:40:04,927 --> 01:40:07,062 FSHD STUDY IN THE NETHERLANDS. 2653 01:40:07,062 --> 01:40:09,865 IN THE TWO-YEAR PERIOD, 95% OF 2654 01:40:09,865 --> 01:40:11,033 PEDIATRIC PATIENTS MANIFESTED 2655 01:40:11,033 --> 01:40:14,703 FACIAL WEAKNESS AND 40% SHOWED 2656 01:40:14,703 --> 01:40:17,006 SCAPULAR WEAKNESS ALONG WITH 2657 01:40:17,006 --> 01:40:19,208 ADDITIONAL MUSCULAR 2658 01:40:19,208 --> 01:40:20,276 MANIFESTATIONS SUCH AS IMPAIRED 2659 01:40:20,276 --> 01:40:23,846 HEARING AND IRREGULAR EKGs. 2660 01:40:23,846 --> 01:40:25,447 RESULTS FROM FIVE YEAR FOLLOW-UP 2661 01:40:25,447 --> 01:40:26,515 ARE BEING PREPARED FOR 2662 01:40:26,515 --> 01:40:26,816 PUBLICATION. 2663 01:40:26,816 --> 01:40:28,784 IN ADDITION, AN EIGHT-YEAR STUDY 2664 01:40:28,784 --> 01:40:31,754 IS NOW BEING PLANNED. 2665 01:40:31,754 --> 01:40:32,588 ROYAL CHILDREN'S HOSPITAL 2666 01:40:32,588 --> 01:40:33,455 MELBOURNE PRESENTED WORK ON 2667 01:40:33,455 --> 01:40:35,591 ADAPTING FOR PEDIATRIC PATIENTS 2668 01:40:35,591 --> 01:40:38,761 THE FSHD COM, A COMPOSITE 2669 01:40:38,761 --> 01:40:42,131 MEASUREMENT OF MOTOR COMPONENTS 2670 01:40:42,131 --> 01:40:42,932 IN ADULTS. 2671 01:40:42,932 --> 01:40:45,968 THEIR STUDIES SHOWED HIGH 2672 01:40:45,968 --> 01:40:47,336 TEST/RE-TEST RELIABILITY ALONG 2673 01:40:47,336 --> 01:40:48,270 WITH SIGNIFICANT CORRELATIONS 2674 01:40:48,270 --> 01:40:49,471 WITH OTHER FUNCTIONAL IMAGING 2675 01:40:49,471 --> 01:40:51,440 AND QUALITY OF LIFE MEASURES. 2676 01:40:51,440 --> 01:40:52,708 LONGITUDAL VALIDATION AND 2677 01:40:52,708 --> 01:40:54,109 CLINICAL INTERPRETATION OF THESE 2678 01:40:54,109 --> 01:40:56,846 MEASURES ARE ONGOING. 2679 01:40:56,846 --> 01:40:59,415 AND THE SESSION CONCLUDED WITH A 2680 01:40:59,415 --> 01:41:00,649 PANEL DISCUSSION ON THE STATUS 2681 01:41:00,649 --> 01:41:02,852 AND PRIORITIES FOR ADVANCING THE 2682 01:41:02,852 --> 01:41:05,421 UNDERSTANDING OF PEDIATRIC FSHD, 2683 01:41:05,421 --> 01:41:07,556 AND FEEDBACK FROM THE AUDIENCE 2684 01:41:07,556 --> 01:41:08,924 STRONGLY SUPPORTED THE NEED FOR 2685 01:41:08,924 --> 01:41:11,594 MORE EXTENSIVE WORK IN THIS AR 2686 01:41:11,594 --> 01:41:12,061 AREA. 2687 01:41:12,061 --> 01:41:13,929 NOW AS A DIRECT OUTCOME OF THE 2688 01:41:13,929 --> 01:41:18,133 SESSION, THE CANADIAN COMPANY 2689 01:41:18,133 --> 01:41:20,903 SOLVE FSHD REACHED OUT TO A 2690 01:41:20,903 --> 01:41:22,571 GROUP OF PARENTS WITH FSHD TO 2691 01:41:22,571 --> 01:41:23,005 ORGANIZE A WORKSHOP. 2692 01:41:23,005 --> 01:41:24,573 THE MEETING WAS HELD AT THE END 2693 01:41:24,573 --> 01:41:25,641 OF SEPTEMBER THIS YEAR AND 2694 01:41:25,641 --> 01:41:26,642 BROUGHT TOGETHER PEDIATRIC 2695 01:41:26,642 --> 01:41:28,277 RESEARCH LEADERS, COMPANIES AND 2696 01:41:28,277 --> 01:41:29,511 REGULATORY EXPERTS TO DISCUSS 2697 01:41:29,511 --> 01:41:31,881 HOW TO ENSURE THAT CHILDREN WITH 2698 01:41:31,881 --> 01:41:34,516 FSHD WILL HAVE ACCESS TO NEW 2699 01:41:34,516 --> 01:41:34,917 THERAPIES. 2700 01:41:34,917 --> 01:41:36,719 SOME KEY TAKEAWAYS FROM THAT 2701 01:41:36,719 --> 01:41:39,455 WORKSHOP INCLUDED THE IDEA THAT 2702 01:41:39,455 --> 01:41:42,224 EARLY INTERVENTION IS DESIRABLE, 2703 01:41:42,224 --> 01:41:44,493 THAT COMPANIES DO WANT TO TREAT 2704 01:41:44,493 --> 01:41:47,162 CHILDREN AND ARE SEEKING A PATH 2705 01:41:47,162 --> 01:41:48,564 FORWARD, THAT MORE ROBUST 2706 01:41:48,564 --> 01:41:49,598 NATURAL HISTORY DATA AND THE 2707 01:41:49,598 --> 01:41:51,000 DEVELOPMENT OF PEDIATRIC TRIAL 2708 01:41:51,000 --> 01:41:54,570 OUT KOUTCOMES WOULD BE IMMENSELY 2709 01:41:54,570 --> 01:41:56,205 HELPFUL IN THIS, AND THAT 2710 01:41:56,205 --> 01:41:57,973 INNOVATIVE TRIAL DESIGNS SHOULD 2711 01:41:57,973 --> 01:41:59,375 BE CONSIDERED. 2712 01:41:59,375 --> 01:42:02,711 I ALSO WANTED TO MENTION THAT 2713 01:42:02,711 --> 01:42:04,813 BECAUSE OF THE RAPID GROWTH IN 2714 01:42:04,813 --> 01:42:06,415 THE NUMBER OF CLINICAL TRIALS 2715 01:42:06,415 --> 01:42:09,285 AND THE FILLING UP OF OUR 2716 01:42:09,285 --> 01:42:11,220 PIPELINE, THE FSHD CLINICAL 2717 01:42:11,220 --> 01:42:13,722 TRIAL RESEARCH NETWORK HAS 2718 01:42:13,722 --> 01:42:14,623 EXPANDED SIGNIFICANTLY OVER THE 2719 01:42:14,623 --> 01:42:16,325 PAST YEAR. 2720 01:42:16,325 --> 01:42:20,162 IT CURRENTLY INCLUDES 15 SITE IN 2721 01:42:20,162 --> 01:42:20,763 THE UNITED STATES, INCLUDING 2722 01:42:20,763 --> 01:42:22,898 THIS YEAR FOR THE FIRST TIME A 2723 01:42:22,898 --> 01:42:25,567 PEDIATRIC CENTER THAT WOULD BE 2724 01:42:25,567 --> 01:42:26,602 NATIONWIDE CHILDREN'S HOSPITAL 2725 01:42:26,602 --> 01:42:27,069 IN COLUMBUS. 2726 01:42:27,069 --> 01:42:29,138 THERE ARE THREE SITES IN CANADA 2727 01:42:29,138 --> 01:42:36,312 NOW, SEVEN IN THE U.K. AND E.U., 2728 01:42:36,312 --> 01:42:38,280 ONE IN YOU A STRAIL JA, ONE IN 2729 01:42:38,280 --> 01:42:39,615 BRAZIL AND THERE ARE NINE 2730 01:42:39,615 --> 01:42:40,482 POTENTIAL NEW SITES UNDER 2731 01:42:40,482 --> 01:42:40,816 CONSIDERATION. 2732 01:42:40,816 --> 01:42:42,484 IN ADDITION, WE HAVE BEEN 2733 01:42:42,484 --> 01:42:44,253 WORKING VERY CLOSELY TO SUPPORT 2734 01:42:44,253 --> 01:42:45,454 PATIENT ADVOCACY IN COUNTRIES 2735 01:42:45,454 --> 01:42:45,921 AROUND THE WORLD. 2736 01:42:45,921 --> 01:42:47,990 I THINK WE NOW HAVE 29 MEMBERS 2737 01:42:47,990 --> 01:42:49,158 IN THE WORLD FSHD ALLIANCE, AND 2738 01:42:49,158 --> 01:42:51,360 WE WORK WITH THEM TO SUPPORT 2739 01:42:51,360 --> 01:42:52,127 THEIR EFFORTS IN PATIENT 2740 01:42:52,127 --> 01:42:54,063 EDUCATION AND ENGAGEMENT, 2741 01:42:54,063 --> 01:42:58,734 CLINICIAN ENGAGEMENT, REGISTRIES 2742 01:42:58,734 --> 01:43:01,337 IN RESEARCH, AND NOW AS WE 2743 01:43:01,337 --> 01:43:02,404 APPROACH THE POSSIBILITY OF 2744 01:43:02,404 --> 01:43:04,606 DRUGS COMING ON THE MARKET IN 2745 01:43:04,606 --> 01:43:09,144 THE U.S. AND SOON IN EUROPE, WE 2746 01:43:09,144 --> 01:43:11,347 NEED TO WORK WITH THEM ON 2747 01:43:11,347 --> 01:43:13,849 ADVOCACY TO MAKE SURE THAT THEY 2748 01:43:13,849 --> 01:43:16,552 CAN SPEED UP REGULATORY APPROVAL 2749 01:43:16,552 --> 01:43:17,886 AND ACCESS TO THERAPIES IN OTHER 2750 01:43:17,886 --> 01:43:21,323 COUNTRIES AS WELL. 2751 01:43:21,323 --> 01:43:24,226 SO, WE HAVE SCHEDULED OUR 2024 2752 01:43:24,226 --> 01:43:26,895 INTERNATIONAL RESEARCH CONGRESS 2753 01:43:26,895 --> 01:43:29,932 AND OUR BIANNUAL FSHD CONNECT 2754 01:43:29,932 --> 01:43:31,000 PATIENT CONFERENCE THAT WILL 2755 01:43:31,000 --> 01:43:31,967 TAKE PLACE DECEMBER. 2756 01:43:31,967 --> 01:43:34,970 I'M SORRY, IN DENVER, COLORADO 2757 01:43:34,970 --> 01:43:36,772 JUNE 13TH AND 14TH AND CONNECT 2758 01:43:36,772 --> 01:43:38,574 IS ON THE 15TH AND 16TH. 2759 01:43:38,574 --> 01:43:43,178 SO SAVE THE DATE. 2760 01:43:43,178 --> 01:43:44,880 AND THE MORE DETAILS ABOUT THE 2761 01:43:44,880 --> 01:43:46,715 CONGRESS THAT I JUST ZIPPED 2762 01:43:46,715 --> 01:43:49,051 THROUGH SO FAST ARE AVAILABLE IN 2763 01:43:49,051 --> 01:43:51,153 A RECENTLY PUBLISHED ARTICLE IN 2764 01:43:51,153 --> 01:43:52,855 NEUROMUSCULAR DISORDERS, WHICH 2765 01:43:52,855 --> 01:43:54,957 YOU CAN DOWNLOAD FOR FREE USING 2766 01:43:54,957 --> 01:43:57,659 THIS QR CODE UNTIL JANUARY 6TH. 2767 01:43:57,659 --> 01:44:00,562 THANK YOU SO MUCH. 2768 01:44:00,562 --> 01:44:04,933 >> THANK YOU, DR. KINOSHITA. 2769 01:44:04,933 --> 01:44:08,971 I DID WANT TO MENTION THAT YOUR 2770 01:44:08,971 --> 01:44:10,305 COMMENT ABOUT PEDIATRIC CLINICAL 2771 01:44:10,305 --> 01:44:13,742 TRIALS, ACE MENTIONED REALLY 2772 01:44:13,742 --> 01:44:14,943 RESONATED WITH ME, AND I FORGOT 2773 01:44:14,943 --> 01:44:18,280 TO MENTION THAT WE HAVE BEEN 2774 01:44:18,280 --> 01:44:20,616 EXPLORING THERAPY IN YOUNG 2775 01:44:20,616 --> 01:44:22,217 CHILDREN AT THE CLINICAL CENTER 2776 01:44:22,217 --> 01:44:23,819 AT THE NIH. 2777 01:44:23,819 --> 01:44:28,023 SO THERE'S BEEN A GROUP OF 2778 01:44:28,023 --> 01:44:29,825 REPRESENTATIVES FROM MULTIPLE 2779 01:44:29,825 --> 01:44:31,126 DIFFERENT INSTITUTES AND CENTERS 2780 01:44:31,126 --> 01:44:32,661 AT THE NIH, REALLY EXPLORING 2781 01:44:32,661 --> 01:44:38,467 WHAT THE NEEDS ARE IN TERMS OF 2782 01:44:38,467 --> 01:44:40,702 INFRASTRUCTURE AND SAFETY 2783 01:44:40,702 --> 01:44:44,740 CONSIDERATIONS, BUT IT SOMETHING 2784 01:44:44,740 --> 01:44:47,342 WE HOPE WE'LL BE ABLE TO PUT 2785 01:44:47,342 --> 01:44:48,510 ANOTHER PIN ON YOUR MAP TO SAY 2786 01:44:48,510 --> 01:44:49,878 THAT THERE WOULD BE 2787 01:44:49,878 --> 01:44:51,847 OPPORTUNITIES FOR CLINICAL 2788 01:44:51,847 --> 01:44:53,549 TRIALS IN CHILDREN FOR THE 2789 01:44:53,549 --> 01:44:54,616 MUSCULAR DYSTROPHIES. 2790 01:44:54,616 --> 01:44:55,651 >> THAT WOULD BE GREAT. 2791 01:44:55,651 --> 01:44:57,920 WE'D LOVE TO KEEP IN TOUCH WITH 2792 01:44:57,920 --> 01:44:58,921 THAT ABOUT THAT. 2793 01:44:58,921 --> 01:45:01,323 I DO ALSO WANT TO MENTION THE 2794 01:45:01,323 --> 01:45:02,391 PREVIOUS SPEAKER ABOUT -- 2795 01:45:02,391 --> 01:45:05,961 SPEAKING ABOUT DIGITAL HEALTH, 2796 01:45:05,961 --> 01:45:07,796 YOU KNOW, AND REMOTE ASSESSMENTS 2797 01:45:07,796 --> 01:45:10,299 AND SO ON, AND THAT WAS -- 2798 01:45:10,299 --> 01:45:11,533 THAT'S AN AREA OF GREAT INTEREST 2799 01:45:11,533 --> 01:45:14,736 FOR THIS PEDIATRIC GROUP 2800 01:45:14,736 --> 01:45:16,138 OBVIOUSLY BECAUSE IN A RARE 2801 01:45:16,138 --> 01:45:18,774 DISEASE, A RARE SUBSET AMONG 2802 01:45:18,774 --> 01:45:21,510 RARE DISEASE, THE FAMILIES ARE 2803 01:45:21,510 --> 01:45:23,579 FAR BETWEEN, IT'S NOT EASY FOR 2804 01:45:23,579 --> 01:45:27,749 THEM TO TRAVEL TO STUDY SITE, 2805 01:45:27,749 --> 01:45:28,951 AND KIDS EVEN MORE THAN ADULTS 2806 01:45:28,951 --> 01:45:31,420 MAY HAVE THEIR UPS AND DOWNS, 2807 01:45:31,420 --> 01:45:32,721 AND TO BE ABLE TO HAVE 2808 01:45:32,721 --> 01:45:33,789 ASSESSMENTS THAT THEY CAN USE, 2809 01:45:33,789 --> 01:45:34,957 MAYBE THAT'S EVEN FUN FOR THEM 2810 01:45:34,957 --> 01:45:36,558 TO USE, THEY MIGHT THINK OF IT 2811 01:45:36,558 --> 01:45:40,195 AS A GAME, COULD BE A GAME 2812 01:45:40,195 --> 01:45:41,630 CHANGER. 2813 01:45:41,630 --> 01:45:42,698 >> GREAT. 2814 01:45:42,698 --> 01:45:44,032 WELL, THANK YOU VERY MUCH FOR 2815 01:45:44,032 --> 01:45:46,335 THAT. 2816 01:45:46,335 --> 01:45:47,236 THAT VERY INFORMATIVE 2817 01:45:47,236 --> 01:45:47,569 PRESENTATION. 2818 01:45:47,569 --> 01:45:48,604 I THINK BECAUSE WE'RE ACTUALLY 2819 01:45:48,604 --> 01:45:49,872 SUPPOSED TO BE AT A BREAK NOW 2820 01:45:49,872 --> 01:45:52,841 AND WE STILL HAVE ONE MORE 2821 01:45:52,841 --> 01:45:53,976 SPEAKER, WE'RE GOING TO HOLD 2822 01:45:53,976 --> 01:45:57,146 QUESTIONS AND IF YOU'RE IN THE 2823 01:45:57,146 --> 01:46:01,750 ROOM, MAYBE WE CAN MAKE A LIST 2824 01:46:01,750 --> 01:46:02,885 OF QUESTIONS THAT WE COULD 2825 01:46:02,885 --> 01:46:04,720 HANDLE IF WE HAVE A GAP LATER ON 2826 01:46:04,720 --> 01:46:07,956 IN THE MEETING. 2827 01:46:07,956 --> 01:46:12,661 SO THE NEXT SPEAKER IS DR. ANDY 2828 01:46:12,661 --> 01:46:14,863 ROHRWASSER, WHO IS GOING TO 2829 01:46:14,863 --> 01:46:18,700 PROVIDE A SUMMARY OF THE 2830 01:46:18,700 --> 01:46:20,169 MYOTONIC DYSTROPHY FOUNDATION'S 2831 01:46:20,169 --> 01:46:22,337 ANNUAL COMBINED RESEARCH AND 2832 01:46:22,337 --> 01:46:23,238 FAMILY CONFERENCE THAT WAS HELD 2833 01:46:23,238 --> 01:46:28,043 IN WASHINGTON, D.C. 2834 01:46:28,043 --> 01:46:28,410 DR. ROHRWASSER? 2835 01:46:28,410 --> 01:46:28,977 >> THANK YOU VERY MUCH, AND 2836 01:46:28,977 --> 01:46:32,514 THANK YOU FOR THE INVITATION, 2837 01:46:32,514 --> 01:46:33,949 AND I'M NEW TO THIS GROUP. 2838 01:46:33,949 --> 01:46:38,187 I'M A HUMAN GENETICIST, MY 2839 01:46:38,187 --> 01:46:40,489 BACKGROUND IS HUMAN GENETICS, 2840 01:46:40,489 --> 01:46:42,024 AND I JUST TRANSITIONED TO A 2841 01:46:42,024 --> 01:46:42,991 CHIEF SCIENTIFIC OFFICER 2842 01:46:42,991 --> 01:46:45,627 POSITION WITH THE MYOTONIC 2843 01:46:45,627 --> 01:46:46,195 FOUNDATION. 2844 01:46:46,195 --> 01:46:47,563 THE LEADING GLOBAL ADVOCACY 2845 01:46:47,563 --> 01:46:48,897 GROUP HELPING PATIENTS AND 2846 01:46:48,897 --> 01:46:50,899 FAMILY NAVIGATE THE COMPLEX 2847 01:46:50,899 --> 01:46:51,967 ENVIRONMENT OF THE DISEASE, AND 2848 01:46:51,967 --> 01:46:54,469 WE ARE ALSO OFTEN THE FIRST 2849 01:46:54,469 --> 01:46:55,971 RESOURCE THAT IS CONTACTED BY 2850 01:46:55,971 --> 01:46:57,539 NEWLY DIAGNOSED PATIENTS. 2851 01:46:57,539 --> 01:47:01,043 IN LIGHT WITH THE MISSION, 2852 01:47:01,043 --> 01:47:01,910 RIGHT, TO SUPPORT AND CONNECT 2853 01:47:01,910 --> 01:47:03,712 THE COMMUNITY AND TO ACCELERATE 2854 01:47:03,712 --> 01:47:06,181 RESEARCH AND TREATMENT, WE HOLD 2855 01:47:06,181 --> 01:47:07,983 AN ANNUAL CONFERENCE AND AS 2856 01:47:07,983 --> 01:47:11,086 DR. BIANCHI SAID, THIS YEAR'S 2857 01:47:11,086 --> 01:47:15,290 CONFERENCE WAS HELD IN 2858 01:47:15,290 --> 01:47:18,026 WASHINGTON, D.C. IN SEPTEMBER. 2859 01:47:18,026 --> 01:47:19,828 RATHER THAN GOING INTO RATTLING 2860 01:47:19,828 --> 01:47:25,000 OFF SCIENTIFIC DEAL TAILS, THE E 2861 01:47:25,000 --> 01:47:27,703 LINKS ARE ON MY SLIDES, I WANT 2862 01:47:27,703 --> 01:47:28,971 TO HIGHLIGHT ON A COUPLE OF 2863 01:47:28,971 --> 01:47:31,607 THEEMTTHEMES THAT ARE REALLY, RY 2864 01:47:31,607 --> 01:47:31,974 IMPORTANT. 2865 01:47:31,974 --> 01:47:34,509 SO OUR CONFERENCE WAS THE 15TH 2866 01:47:34,509 --> 01:47:35,244 ANNUAL EVENT. 2867 01:47:35,244 --> 01:47:38,780 WE HAD RECORD PARTICIPATION. 2868 01:47:38,780 --> 01:47:40,148 MORE THAN 500 PEOPLE ATTENDED. 2869 01:47:40,148 --> 01:47:42,117 IT WAS HELD FOR THE SECOND TIME 2870 01:47:42,117 --> 01:47:44,186 IN A HYBRID FORMAT. 2871 01:47:44,186 --> 01:47:46,922 AND MOST EXCITINGLY, THERE WERE 2872 01:47:46,922 --> 01:47:47,823 OVER 200 PROFESSIONALS. 2873 01:47:47,823 --> 01:47:49,992 THE THEME HERE IS REALLY THAT 2874 01:47:49,992 --> 01:47:52,261 THE CONFERENCE BROUGHT TOGETHER 2875 01:47:52,261 --> 01:47:53,662 THE ENTIRE DM COMMUNITY. 2876 01:47:53,662 --> 01:47:55,731 SO WE HAD AFFECTED INDIVIDUALS, 2877 01:47:55,731 --> 01:47:57,466 FAMILIES, CAREGIVERS, WE HAD 2878 01:47:57,466 --> 01:47:59,201 CLINICIANS AND RESEARCHERS, WE 2879 01:47:59,201 --> 01:48:01,370 HAD PHARMA/BIOTECH, WE HAD 2880 01:48:01,370 --> 01:48:02,237 REGULATORS, AND MOST 2881 01:48:02,237 --> 01:48:04,206 IMPORTANTLY, WE HAD FUNDERS AND 2882 01:48:04,206 --> 01:48:05,941 DONORS. 2883 01:48:05,941 --> 01:48:10,679 IT WAS A THREE-DAY EVENT. 2884 01:48:10,679 --> 01:48:13,215 IT STARTED WITH AN ADVOCACY DAY, 2885 01:48:13,215 --> 01:48:16,918 AND THEN THERE WERE FULL DAYS OF 2886 01:48:16,918 --> 01:48:17,586 CONFERENCE PROGRAMS. 2887 01:48:17,586 --> 01:48:19,221 SO IN TOTAL, 51 SESSIONS. 2888 01:48:19,221 --> 01:48:20,155 THERE WERE OPPORTUNITIES FOR 2889 01:48:20,155 --> 01:48:22,257 FAMILY REGISTRY ENROLLMENT, 2890 01:48:22,257 --> 01:48:24,226 THERE WERE MOVEMENT ACTIVITY AND 2891 01:48:24,226 --> 01:48:26,028 EXTENSIVE NETWORKING SESSIONS. 2892 01:48:26,028 --> 01:48:28,030 BUT REALLY, ONE OF THE MOST 2893 01:48:28,030 --> 01:48:30,832 IMPORTANT THINGS WAS THE 2894 01:48:30,832 --> 01:48:33,902 INTENTIONAL DESIGN TO INTEGRATE 2895 01:48:33,902 --> 01:48:36,805 AND CONNECT SCIENTISTS AND 2896 01:48:36,805 --> 01:48:39,241 CLINICIANS WITH FAMILIES AND 2897 01:48:39,241 --> 01:48:41,677 CAREGIVERS DEALING WITH THE 2898 01:48:41,677 --> 01:48:44,746 DISEASE ON A DAILY BASIS. 2899 01:48:44,746 --> 01:48:47,316 DAY ONE, ADVOCACY DAY ON CAPITOL 2900 01:48:47,316 --> 01:48:47,849 HILL. 2901 01:48:47,849 --> 01:48:49,584 THE GOAL OF THE SESSION WAS TO 2902 01:48:49,584 --> 01:48:51,553 INCREASE CONGRESSIONAL 2903 01:48:51,553 --> 01:48:52,688 UNDERSTANDING OF MYOTONIC 2904 01:48:52,688 --> 01:48:53,655 DYSTROPHY. 2905 01:48:53,655 --> 01:48:58,460 THERE WERE OVER 130 DISEASE 2906 01:48:58,460 --> 01:49:00,062 ADVOCATES FROM THE U.S. AND FIVE 2907 01:49:00,062 --> 01:49:01,196 OTHER COUNTRIES. 2908 01:49:01,196 --> 01:49:02,664 THERE WERE OVER 100 MEETINGS 2909 01:49:02,664 --> 01:49:05,801 WITH POLICY MAKERS AND STAFF. 2910 01:49:05,801 --> 01:49:07,469 AND THE HIGHLIGHT WAS A 2911 01:49:07,469 --> 01:49:10,572 CONGRESSIONAL BRIEFING AND A 2912 01:49:10,572 --> 01:49:13,308 LUNCH IN THE SENATE BUILDING. 2913 01:49:13,308 --> 01:49:19,348 THIS MEETING WAS ATTENDED BY DRH 2914 01:49:19,348 --> 01:49:20,549 GOLDMAN, DEPARTMENT OF DEFENSE, 2915 01:49:20,549 --> 01:49:24,786 CHUCK HUNT, FROM THE ADVOCACY 2916 01:49:24,786 --> 01:49:27,823 COMMITTEE, SENATOR KLOBUCHAR, 2917 01:49:27,823 --> 01:49:29,958 AND DR. GALLAGHER REPRESENTED 2918 01:49:29,958 --> 01:49:32,160 INDUSTRY. 2919 01:49:32,160 --> 01:49:35,163 THERE WAS EVEN MORE ADVOCACY AT 2920 01:49:35,163 --> 01:49:38,100 THE CONFERENCE ITSELF. 2921 01:49:38,100 --> 01:49:40,135 DURING ONE OF THE GENERAL 2922 01:49:40,135 --> 01:49:42,003 SESSIONS, IT WAS A PANEL 2923 01:49:42,003 --> 01:49:44,506 DISCUSSION BETWEEN FDA AND THEN 2924 01:49:44,506 --> 01:49:46,041 PATIENTS DISCUSSING THEIR 2925 01:49:46,041 --> 01:49:48,076 PERSPECTIVE ON DRUG DEVELOPMENT 2926 01:49:48,076 --> 01:49:50,846 AND THE APPROVAL PROCESS. 2927 01:49:50,846 --> 01:49:52,247 FDA PARTICIPANTS WERE 2928 01:49:52,247 --> 01:49:54,649 DR. CAMPBELL AND DR. MANKODI. 2929 01:49:54,649 --> 01:49:58,286 THE SESSION WAS CHAIRED BY NICK 2930 01:49:58,286 --> 01:50:01,056 JOHNSON, A NEUROLOGIST, DISEASE 2931 01:50:01,056 --> 01:50:01,490 EXPERT. 2932 01:50:01,490 --> 01:50:06,094 AND THEN WE HEARD FROM MARK, 2933 01:50:06,094 --> 01:50:07,696 HALEY AND JEANINE. 2934 01:50:07,696 --> 01:50:08,597 FROM THE CONFERENCE 2935 01:50:08,597 --> 01:50:09,498 PARTICIPANTS, THEY LEARNED ABOUT 2936 01:50:09,498 --> 01:50:11,032 THE HISTORY AND MISSION OF THE 2937 01:50:11,032 --> 01:50:12,434 FDA, AND THEN THE FDA PRESENTER 2938 01:50:12,434 --> 01:50:15,003 REALLY GAINED KNOWLEDGE FROM THE 2939 01:50:15,003 --> 01:50:16,104 DISEASE AND PATIENT WILLINGNESS 2940 01:50:16,104 --> 01:50:18,473 TO ACCEPT RISK, RIGHT, IN THE 2941 01:50:18,473 --> 01:50:19,274 DRUG DEVELOPMENT PROCESS, 2942 01:50:19,274 --> 01:50:24,246 BRINGING NEW DRUGS TO MARKET. 2943 01:50:24,246 --> 01:50:26,748 THE EDUCATIONAL PART OF THE 2944 01:50:26,748 --> 01:50:27,916 CONFERENCE, THERE WERE GENERAL 2945 01:50:27,916 --> 01:50:30,685 SESSIONS, THERE WERE COMMUNITY 2946 01:50:30,685 --> 01:50:31,486 TRACKS, PROFESSIONAL TRACKS, 2947 01:50:31,486 --> 01:50:32,754 THERE WERE POSTER PRESENTATIONS, 2948 01:50:32,754 --> 01:50:33,955 THERE WERE INDUSTRY UPDATES, AND 2949 01:50:33,955 --> 01:50:36,425 THEN WELLNESS SESSIONS AND SMALL 2950 01:50:36,425 --> 01:50:37,959 GROUP DISCUSSIONS OR FIRESIDE 2951 01:50:37,959 --> 01:50:38,326 CHATS. 2952 01:50:38,326 --> 01:50:41,196 AND THEY RANGED FROM MANAGING 2953 01:50:41,196 --> 01:50:43,398 DAILY ACTIVITIES TO ADVOCACY AND 2954 01:50:43,398 --> 01:50:47,269 CLINICAL TRIALS. 2955 01:50:47,269 --> 01:50:49,905 THE COMMUNITY TRACKS, THERE WERE 2956 01:50:49,905 --> 01:50:50,405 34 SESSIONS. 2957 01:50:50,405 --> 01:50:54,509 THEY WERE STRATIFIED BY -- FIRST 2958 01:50:54,509 --> 01:50:56,511 BY DISEASE SUBCATEGORIES, SO WE 2959 01:50:56,511 --> 01:51:00,081 HAD SOME FOR DM1, FOR DM2, WE 2960 01:51:00,081 --> 01:51:02,017 HAD SESSIONS FOR CAREGIVERS AND 2961 01:51:02,017 --> 01:51:02,617 SELF-CARE. 2962 01:51:02,617 --> 01:51:04,052 WE HAD SESSIONS FOR PATIENTS 2963 01:51:04,052 --> 01:51:05,787 WITH A CONGENITAL FORM OF THE 2964 01:51:05,787 --> 01:51:08,557 DISEASE, AND THEN JUVENILE-ON 2965 01:51:08,557 --> 01:51:11,326 JUVENILE-ONSET. 2966 01:51:11,326 --> 01:51:14,196 THE PROFESSIONAL TRACK, THERE 2967 01:51:14,196 --> 01:51:17,999 WERE 11 SESSIONS, AND NE WERE TE 2968 01:51:17,999 --> 01:51:19,067 CAREFULLY DEVELOPED AND 2969 01:51:19,067 --> 01:51:20,702 CO-DESIGNED WITH OUR SCIENTIFIC 2970 01:51:20,702 --> 01:51:22,304 ADVISORY COMMITTEES. 2971 01:51:22,304 --> 01:51:24,773 AND TOPICS RANGED HERE FROM 2972 01:51:24,773 --> 01:51:27,008 BASIC SCIENCE TO EMERGING DRUG 2973 01:51:27,008 --> 01:51:27,409 TARGETS. 2974 01:51:27,409 --> 01:51:30,645 SO THERE WERE TALKS ON DISEASE 2975 01:51:30,645 --> 01:51:35,417 MECHANISMS IN DM1 AND 2, ANIMAL, 2976 01:51:35,417 --> 01:51:37,118 CELL AND TISSUE MODELS, DRUG 2977 01:51:37,118 --> 01:51:39,554 TARGETS AND GENETIC MODIFIERS, 2978 01:51:39,554 --> 01:51:40,989 AND VERY SPECIFIC PRESENTATIONS 2979 01:51:40,989 --> 01:51:43,058 WITH REGARDS TO THE 2980 01:51:43,058 --> 01:51:44,259 PATHOPHYSIOLOGY MECHANISMS IN 2981 01:51:44,259 --> 01:51:46,228 TISSUE AND ORGAN SYSTEMS. 2982 01:51:46,228 --> 01:51:49,097 AND THEN ONE OF THE COOLEST 2983 01:51:49,097 --> 01:51:50,765 THINGS WERE LIGHTNING ROUND 2984 01:51:50,765 --> 01:51:52,000 PRESENTATIONS WHERE THE TOP 2985 01:51:52,000 --> 01:51:54,069 POSTERS WERE ACTUALLY SELECTED 2986 01:51:54,069 --> 01:51:55,937 FOR VERY SHORT AND CONCISE 2987 01:51:55,937 --> 01:51:57,706 PRESENTATION, AND THAT GAVE THE 2988 01:51:57,706 --> 01:52:00,542 EARLY CAREER FELLOWS A CHANCE TO 2989 01:52:00,542 --> 01:52:02,577 SHOWCASE THEIR WORK, RIGHT, AND 2990 01:52:02,577 --> 01:52:04,646 MAKE CONNECTIONS WITH THE 2991 01:52:04,646 --> 01:52:05,680 ESTABLISHED RESEARCH 2992 01:52:05,680 --> 01:52:07,983 COMMUNITIES. 2993 01:52:07,983 --> 01:52:11,286 THE POSTER SESSION WAS -- I'VE 2994 01:52:11,286 --> 01:52:12,854 ATTENDED MANY MEETINGS, BUT THIS 2995 01:52:12,854 --> 01:52:14,389 POSTER SESSION WAS REALLY 2996 01:52:14,389 --> 01:52:15,223 INTERESTING AND COOL. 2997 01:52:15,223 --> 01:52:18,026 IT WAS A GINORMOUS NETWORKING 2998 01:52:18,026 --> 01:52:19,828 AND CONNECTION EVENT WHERE THE 2999 01:52:19,828 --> 01:52:21,029 PRESENTERS COULD CONNECT WITH 3000 01:52:21,029 --> 01:52:23,365 INDUSTRY PARTNERS AND OTHERS 3001 01:52:23,365 --> 01:52:26,768 WALKING INWORKING IN THE SPACE. 3002 01:52:26,768 --> 01:52:28,303 IT WAS HELD ACTUALLY IN THE SAME 3003 01:52:28,303 --> 01:52:29,371 ROOM WHERE EVERYONE WAS THERE, 3004 01:52:29,371 --> 01:52:31,439 SO IT WAS KIND OF A FORCED 3005 01:52:31,439 --> 01:52:33,675 MINGLING AND EXCHANGE OF IDEAS. 3006 01:52:33,675 --> 01:52:36,778 REALLY, REALLY NICE SYSTEM. 3007 01:52:36,778 --> 01:52:39,548 THERE WERE 45 POSTER 3008 01:52:39,548 --> 01:52:40,782 PRESENTATIONS, 13 FROM CURRENT 3009 01:52:40,782 --> 01:52:43,018 MDF FELLOWS, AND THEN THREE FROM 3010 01:52:43,018 --> 01:52:46,755 EARLY CAREER RESEARCH GRANTEES. 3011 01:52:46,755 --> 01:52:49,190 WE HAD INDUSTRY UPDATES, SO NINE 3012 01:52:49,190 --> 01:52:50,058 INDUSTRY PARTNERS PRESENTED 3013 01:52:50,058 --> 01:52:52,961 THEIR DRUG DEVELOPMENT PROGRESS 3014 01:52:52,961 --> 01:52:54,963 AT THEIR VARIOUS STAGES IN TWO 3015 01:52:54,963 --> 01:52:55,363 BLOCKS. 3016 01:52:55,363 --> 01:52:59,334 WE HEARD FROM -- ON DAY ONE FROM 3017 01:52:59,334 --> 01:53:08,843 AVIDITY, JUVENA -- THE MEETING 3018 01:53:08,843 --> 01:53:11,780 ITSELF ALSO PROVIDED THE FIRST 3019 01:53:11,780 --> 01:53:13,848 OPPORTUNITY FOR A FIRST-EVER 3020 01:53:13,848 --> 01:53:16,051 IN-PERSON MEETING OF THE GLOBAL 3021 01:53:16,051 --> 01:53:19,154 ALLIANCE FOR MYOTONIC DYSTROPHY. 3022 01:53:19,154 --> 01:53:22,157 THE GOAL OF THIS NEW 3023 01:53:22,157 --> 01:53:23,658 ORGANIZATION THAT, BY THE WAY, 3024 01:53:23,658 --> 01:53:25,226 GREW FROM JUST OVER 20 PARTNERS 3025 01:53:25,226 --> 01:53:27,596 TO CLOSE TO 60 PARTNERS IN LESS 3026 01:53:27,596 --> 01:53:30,932 THAN -- IN ABOUT TWO YEARS, TO 3027 01:53:30,932 --> 01:53:32,634 RAISE INTERNATIONAL AWARENESS 3028 01:53:32,634 --> 01:53:38,306 ABOUT THE DISEASE. 3029 01:53:38,306 --> 01:53:43,778 I SAID -- WHEN I INTRODUCED THE 3030 01:53:43,778 --> 01:53:44,846 PRESENTATION, THAT A GOAL WAS 3031 01:53:44,846 --> 01:53:49,484 REALLY TO CONNECT RESEARCH AND 3032 01:53:49,484 --> 01:53:51,987 DEVELOPMENT IN PATIENTS AND THAT 3033 01:53:51,987 --> 01:53:54,489 WAS ACCOMPLISHED IN SEVERAL 3034 01:53:54,489 --> 01:53:57,258 MECHANISMS, SO THERE WAS SEVERAL 3035 01:53:57,258 --> 01:53:59,327 STUMP THE DOCTOR PRESENTATIONS 3036 01:53:59,327 --> 01:54:01,863 WHERE PRESENTERS COULD SEE WHAT 3037 01:54:01,863 --> 01:54:03,198 REALLY BUGS THE PATIENT, WHAT DO 3038 01:54:03,198 --> 01:54:05,200 THEY NEED TO KNOW IN TERMS OF 3039 01:54:05,200 --> 01:54:06,768 THE SPEED OF DRUG DEVELOPMENT 3040 01:54:06,768 --> 01:54:08,870 AND THE SPEED OF EMERGING 3041 01:54:08,870 --> 01:54:09,738 TREATMENTS. 3042 01:54:09,738 --> 01:54:11,940 THERE WAS A LUNCH WITH A 3043 01:54:11,940 --> 01:54:13,675 DEDICATED NETWORKING BUDDY 3044 01:54:13,675 --> 01:54:15,076 SYSTEM, SO WHERE RESEARCHERS 3045 01:54:15,076 --> 01:54:18,046 WERE FORCED TO SIT ON 3046 01:54:18,046 --> 01:54:20,348 PRE-ASSIGNED SEATS AND MEET 3047 01:54:20,348 --> 01:54:22,050 PATIENTS AND FAMILY AND LEARN 3048 01:54:22,050 --> 01:54:22,851 ABOUT THE DISEASE, AND THEN 3049 01:54:22,851 --> 01:54:24,319 THERE WERE NUMEROUS 3050 01:54:24,319 --> 01:54:27,155 OPPORTUNITIES TO MEET PATIENTS 3051 01:54:27,155 --> 01:54:29,357 DURING DINNERS OR SOCIAL EVENTS. 3052 01:54:29,357 --> 01:54:31,326 THIS MEETING ALSO SHAPED MY OWN 3053 01:54:31,326 --> 01:54:32,961 PERSONAL JOURNEY, BECAUSE I 3054 01:54:32,961 --> 01:54:34,295 NEEDED TO EVALUATE WHETHER I 3055 01:54:34,295 --> 01:54:37,899 WANTED TO TAKE THE JOB AS 3056 01:54:37,899 --> 01:54:38,333 SCIENTIFIC OFFICER. 3057 01:54:38,333 --> 01:54:41,336 I ASKED IF I COULD ATTEND THE 3058 01:54:41,336 --> 01:54:42,470 MEETING, AND OBVIOUSLY I'M HERE, 3059 01:54:42,470 --> 01:54:45,306 AND FOR ME, THE MEETING WAS 3060 01:54:45,306 --> 01:54:48,043 SIMPLY VERY POWERFUL AND VERY 3061 01:54:48,043 --> 01:54:50,712 SUCCESSFUL CONNECTING PATIENTS 3062 01:54:50,712 --> 01:54:53,448 AND SCIENCE. 3063 01:54:53,448 --> 01:54:57,218 SO IN SUMMARY, THE MEETING 3064 01:54:57,218 --> 01:54:59,220 PROVIDED A PLATFORM FOR ADVOCACY 3065 01:54:59,220 --> 01:55:03,124 AND MEETING WITH REGULATORS. 3066 01:55:03,124 --> 01:55:03,858 SCIENCE BLEW ME AWAY. 3067 01:55:03,858 --> 01:55:06,428 I COMPARED IT MORE LIKE TO THE 3068 01:55:06,428 --> 01:55:07,929 QUALITY OF A GORDON CONFERENCE. 3069 01:55:07,929 --> 01:55:11,132 IT WAS VERY POWERFUL TO SEE HOW 3070 01:55:11,132 --> 01:55:13,935 COMMUNITY DONATIONS DIRECTLY 3071 01:55:13,935 --> 01:55:15,170 INFLUENCE SCIENCE, SO FOR 3072 01:55:15,170 --> 01:55:18,907 EXAMPLE, FOR THE EARLY CAREER 3073 01:55:18,907 --> 01:55:20,008 MECHANISMS. 3074 01:55:20,008 --> 01:55:22,544 THE MEETING ALLOWED FOR 3075 01:55:22,544 --> 01:55:23,812 SCIENTIFIC -- FOR MEETINGS WITH 3076 01:55:23,812 --> 01:55:26,081 SCIENTIFIC AND CLINICAL OPINION 3077 01:55:26,081 --> 01:55:27,015 LEADERS. 3078 01:55:27,015 --> 01:55:29,017 CURRENT AND PREVIOUS FELLOWS 3079 01:55:29,017 --> 01:55:30,485 COULD MEET, THEY COULD MEET WITH 3080 01:55:30,485 --> 01:55:31,986 THEIR MENTORS. 3081 01:55:31,986 --> 01:55:34,189 THE GLOBAL ALLIANCE MET IN 3082 01:55:34,189 --> 01:55:34,422 PERSON. 3083 01:55:34,422 --> 01:55:35,423 OUR SCIENTIFIC ADVISORY 3084 01:55:35,423 --> 01:55:37,025 COMMITTEE MET IN PERSON. 3085 01:55:37,025 --> 01:55:38,393 AND THEN IT WAS REALLY 3086 01:55:38,393 --> 01:55:41,029 SUCCESSFUL IN MAKING THE PAINS 3087 01:55:41,029 --> 01:55:43,031 AND URGENCIES OF THE DISEASE 3088 01:55:43,031 --> 01:55:45,467 COMMUNITY TANGIBLE FOR THE 3089 01:55:45,467 --> 01:55:46,434 RESEARCHERS AND THE RESEARCH 3090 01:55:46,434 --> 01:55:47,769 COMMUNITY. 3091 01:55:47,769 --> 01:55:49,738 AND THEN FROM A FOUNDATION 3092 01:55:49,738 --> 01:55:51,573 PERSPECTIVE, OF COURSE IT 3093 01:55:51,573 --> 01:55:53,475 ALLOWED IN-PERSON SHARING OF 3094 01:55:53,475 --> 01:55:54,375 RESOURCES AND CARE 3095 01:55:54,375 --> 01:55:54,876 RECOMMENDATIONS. 3096 01:55:54,876 --> 01:55:56,611 AND FROM THE PATIENT SIDE, IT 3097 01:55:56,611 --> 01:55:58,046 EVEN ENDED WITH A MARRIAGE 3098 01:55:58,046 --> 01:56:00,715 PROPOSAL. 3099 01:56:00,715 --> 01:56:02,884 SO WHAT WE WANT TO DO -- SO NEXT 3100 01:56:02,884 --> 01:56:06,454 YEAR, AS WE TRANSITION FROM A 3101 01:56:06,454 --> 01:56:07,489 FALL CONFERENCE TO A SPRING 3102 01:56:07,489 --> 01:56:08,656 CONFERENCE, WE WANT TO ACTUALLY 3103 01:56:08,656 --> 01:56:10,125 TRY SOMETHING A LITTLE BIT 3104 01:56:10,125 --> 01:56:10,391 DIFFERENT. 3105 01:56:10,391 --> 01:56:11,726 WHAT WE WANT TO TRY OUT, WE WANT 3106 01:56:11,726 --> 01:56:13,862 TO TRY OUT A CONCEPT OF REGIONAL 3107 01:56:13,862 --> 01:56:14,696 DM CONFERENCES. 3108 01:56:14,696 --> 01:56:18,199 SO WE WANT TO ORGANIZE SIX 3109 01:56:18,199 --> 01:56:23,138 REGIONAL CONFERENCES IN THE EAST 3110 01:56:23,138 --> 01:56:24,572 COAST MIDWEST CENTRAL AND WEST 3111 01:56:24,572 --> 01:56:26,074 COAST REGION, AND TRY TO SEE 3112 01:56:26,074 --> 01:56:27,675 WHETHER WE CAN REPLICATE AND 3113 01:56:27,675 --> 01:56:31,679 CONNECT WITH MORE PEOPLE IN 3114 01:56:31,679 --> 01:56:35,483 THESE LOCALIZED -- IN THESE 3115 01:56:35,483 --> 01:56:37,452 SMALLER AND MORE LOCALIZED 3116 01:56:37,452 --> 01:56:37,719 SETTINGS. 3117 01:56:37,719 --> 01:56:41,489 OF COURSE AS WE LEARN, WE WILL 3118 01:56:41,489 --> 01:56:43,992 NOT HESITATE TO SHARE OUR 3119 01:56:43,992 --> 01:56:44,492 EXPERIENCE. 3120 01:56:44,492 --> 01:56:45,727 AND WITH THIS, I WANT TO END AND 3121 01:56:45,727 --> 01:56:46,394 TAKE ANY QUESTIONS. 3122 01:56:46,394 --> 01:56:48,963 THANK YOU VERY MUCH. 3123 01:56:48,963 --> 01:56:50,265 >> THANK YOU, ANDY. 3124 01:56:50,265 --> 01:56:52,033 OF COURSE I'M VERY INTRIGUED 3125 01:56:52,033 --> 01:56:53,668 ABOUT THE MARRIAGE PROPOSAL. 3126 01:56:53,668 --> 01:56:57,839 IS THAT A FIRST FOR ANY 3127 01:56:57,839 --> 01:56:58,206 PARTICULAR -- 3128 01:56:58,206 --> 01:56:58,973 >> YEAH, IT WAS A FIRST. 3129 01:56:58,973 --> 01:57:00,041 THERE WERE TWO PATIENTS. 3130 01:57:00,041 --> 01:57:04,512 THEY MET ACTUALLY IN -- I THINK 3131 01:57:04,512 --> 01:57:06,981 IN PREVIOUS MDF CONFERENCE AND 3132 01:57:06,981 --> 01:57:08,416 THEY STAYED IN TOUCH, STARTED 3133 01:57:08,416 --> 01:57:09,384 DATING, AND HERE WE GO. 3134 01:57:09,384 --> 01:57:11,252 >> FANTASTIC. 3135 01:57:11,252 --> 01:57:13,822 SO WE'RE RUNNING A LITTLE 3136 01:57:13,822 --> 01:57:16,357 BEHIND, BUT MAYBE ONE QUESTION. 3137 01:57:16,357 --> 01:57:17,625 ANYBODY HAVE A QUESTION? 3138 01:57:17,625 --> 01:57:19,627 IF NOT, GLEN HAS SOME 3139 01:57:19,627 --> 01:57:23,097 ANNOUNCEMENTS. 3140 01:57:23,097 --> 01:57:27,268 >> ANY QUESTIONS FOR ANDY? 3141 01:57:27,268 --> 01:57:27,702 OKAY. 3142 01:57:27,702 --> 01:57:29,504 SO WE'RE RUNNING A LITTLE BIT 3143 01:57:29,504 --> 01:57:29,904 BEHIND. 3144 01:57:29,904 --> 01:57:31,472 WE'RE SUPPOSED TO TAKE A 3145 01:57:31,472 --> 01:57:32,140 10-MINUTE BREAK. 3146 01:57:32,140 --> 01:57:34,642 LET'S SHORTEN TO LIKE FIVE 3147 01:57:34,642 --> 01:57:35,009 MINUTES. 3148 01:57:35,009 --> 01:57:36,244 FOR THOSE OF YOU WHO ARE HERE IN 3149 01:57:36,244 --> 01:57:38,980 THE ROOM, THERE'S FRESH FRUIT 3150 01:57:38,980 --> 01:57:42,016 FOR YOU TO ENJOY OVER THERE, AND 3151 01:57:42,016 --> 01:57:43,918 IF YOU'D LIKE TO PLACE AN ORDER 3152 01:57:43,918 --> 01:57:45,920 FOR LUNCH DELIVERY, WE'RE 3153 01:57:45,920 --> 01:57:49,123 GETTING DELIVERY FROM CAVA, SEE 3154 01:57:49,123 --> 01:57:50,491 GINA, AND SHE'S AT THE TABLE AT 3155 01:57:50,491 --> 01:57:51,993 THE END OF THE HALL JUST AS YOU 3156 01:57:51,993 --> 01:57:52,794 WERE COMING IN. 3157 01:57:52,794 --> 01:57:55,864 ALSO THE RESTROOMS GO BACK TO THE LOO BEETHE LOBBY, GO BACK AD 3158 01:57:55,864 --> 01:58:01,436 IT'S JUST TO THE RIGHT. SO FIVE MINUTES, TRY TO BE BACK AT 11:10, 11:08, 11:10. 3159 01:58:01,436 --> 01:58:02,403 3160 01:58:02,403 --> 01:58:04,087 3161 01:58:04,087 --> 01:58:05,855 >> WELL, FOR THOSE OF YOU WHO 3162 01:58:05,855 --> 01:58:07,190 ARE BACK FROM BREAK, WE WELCOME 3163 01:58:07,190 --> 01:58:08,058 YOU BACK. 3164 01:58:08,058 --> 01:58:10,860 OUR NEXT PRESENTER IS 3165 01:58:10,860 --> 01:58:12,395 DR. CARSTEN BONNEMANN, WHO IS 3166 01:58:12,395 --> 01:58:13,997 FROM THE NINDS INTRAMURAL 3167 01:58:13,997 --> 01:58:16,333 RESEARCH PROGRAM. 3168 01:58:16,333 --> 01:58:19,102 HE IS GOING TO TELL US ABOUT A 3169 01:58:19,102 --> 01:58:21,805 WORKSHOP, AAV-RELATED 3170 01:58:21,805 --> 01:58:23,206 TOXICITIES, THAT WAS HELD AT THE 3171 01:58:23,206 --> 01:58:26,109 NIH IN JUNE OF THIS YEAR. 3172 01:58:26,109 --> 01:58:27,310 CARSTEN, OVER TO YOU. 3173 01:58:27,310 --> 01:58:27,978 >> WELL, THANKS VERY MUCH FOR 3174 01:58:27,978 --> 01:58:30,747 HAVING ME TO REPORT ON THIS. 3175 01:58:30,747 --> 01:58:33,416 I WOULD LIKE TO GIVE A LITTLE 3176 01:58:33,416 --> 01:58:38,188 BACKGROUND, THOUGH. 3177 01:58:38,188 --> 01:58:41,057 ON AAV JUST AS IT RELATES TO 3178 01:58:41,057 --> 01:58:42,158 WHAT I'M GOING TO TALK ABOUT. 3179 01:58:42,158 --> 01:58:43,927 AAV IS A VERY SMALL VIRUS, THIS 3180 01:58:43,927 --> 01:58:46,563 LITTLE GUY HERE, THAT IS REALLY 3181 01:58:46,563 --> 01:58:47,697 NOT ABLE TO REPLICATE ON ITS 3182 01:58:47,697 --> 01:58:48,565 OWN. 3183 01:58:48,565 --> 01:58:50,033 IT NEEDS HELPER VIRUSES LIKE THE 3184 01:58:50,033 --> 01:58:51,534 BIG GUYS OVER HERE. 3185 01:58:51,534 --> 01:58:52,969 THE ADVANTAGE OF THIS SMALL 3186 01:58:52,969 --> 01:58:55,939 VIRUS IS THAT IT IS LARGELY 3187 01:58:55,939 --> 01:58:57,407 NON-PATHOGENIC, AT LEAST AT THE 3188 01:58:57,407 --> 01:59:00,276 DOSES THAT HAPPEN IN NATURAL 3189 01:59:00,276 --> 01:59:02,278 INFECTION. 3190 01:59:02,278 --> 01:59:04,514 BUT A DISADVANTAGE, ITS 3191 01:59:04,514 --> 01:59:07,584 PACKAGING CAPACITY IS RATHER 3192 01:59:07,584 --> 01:59:11,054 LOW, ONLY 4.6 KB, BUT IT COMPANY 3193 01:59:11,054 --> 01:59:12,055 INDUSTRIALIZED AND THE VIRAL 3194 01:59:12,055 --> 01:59:13,623 GENES CAN BE REPLACED BY TRANS 3195 01:59:13,623 --> 01:59:16,559 GENES THAT NEED TO BE DELIVERED. 3196 01:59:16,559 --> 01:59:17,627 CURRENTLY, MOSTLY IN CLINICAL 3197 01:59:17,627 --> 01:59:20,664 USE ARE NATURALLY OCCURRING ZERO 3198 01:59:20,664 --> 01:59:23,366 TYPES, BUT THE FUTURE IS IN 3199 01:59:23,366 --> 01:59:23,867 SPECIFICALLY ENGINEERED 3200 01:59:23,867 --> 01:59:25,502 PHENOTYPES WITH BETTER ORGAN 3201 01:59:25,502 --> 01:59:26,603 TARGETING AND, THEREFORE, 3202 01:59:26,603 --> 01:59:27,604 ALLOWING FOR LOWER DOSES, WHICH 3203 01:59:27,604 --> 01:59:31,875 IS REALLY KEY TO LOWER THE 3204 01:59:31,875 --> 01:59:34,044 TOXICITY OF THIS OTHERWISE VERY 3205 01:59:34,044 --> 01:59:35,245 USEFUL TOOL. 3206 01:59:35,245 --> 01:59:36,913 SO WHO ARE TWO PAPERS THAT 3207 01:59:36,913 --> 01:59:44,054 DESCRIBE TWO FORMS OF MYOS&P AAV 3208 01:59:44,054 --> 01:59:46,523 IN CLINICAL DEVELOPMENT TO HELP 3209 01:59:46,523 --> 01:59:49,225 WITH GENE THERAPY AND DECREASING 3210 01:59:49,225 --> 01:59:52,262 TOXICITY BY DECREASING DOSES 3211 01:59:52,262 --> 01:59:58,935 WHILE WHILE INCREASING EFFICACY. 3212 01:59:58,935 --> 02:00:01,237 NOW MANY CLINICAL TRIALS ARE 3213 02:00:01,237 --> 02:00:04,908 UNDERWAY, YOU CAN SEE A LIST OF 3214 02:00:04,908 --> 02:00:07,210 THOSE. 3215 02:00:07,210 --> 02:00:09,479 IT'S IMPORTANT TO HAVE A LITTLE 3216 02:00:09,479 --> 02:00:12,215 PREVIEW OF WHAT HAPPENS WHEN AAV 3217 02:00:12,215 --> 02:00:12,882 ENTERS THE BODY. 3218 02:00:12,882 --> 02:00:16,386 SO THERE IS BINDING TO THE CELL 3219 02:00:16,386 --> 02:00:20,023 SURFACE, TAKEUP INTO THE CELL, 3220 02:00:20,023 --> 02:00:23,693 UNCODING IN THE KNEE C NUCLEUS D 3221 02:00:23,693 --> 02:00:25,061 LIBERATION OF THE DNA THAT THE 3222 02:00:25,061 --> 02:00:28,131 VIRUS DELIVERS AS A SINGLE 3223 02:00:28,131 --> 02:00:29,799 STRAND, WHICH NEEDS TO BE DOUBLE 3224 02:00:29,799 --> 02:00:32,102 STRANDED OR IF ITS COMPLEMENTARY 3225 02:00:32,102 --> 02:00:34,137 ALREADY AS A DOUBLE STRAND. 3226 02:00:34,137 --> 02:00:36,372 MOSTLY THIS LIVES AS AN EPISOMAL 3227 02:00:36,372 --> 02:00:37,474 DNA ELEMENT SO IT DOESN'T 3228 02:00:37,474 --> 02:00:38,775 INTEGRATE INTO THE GENOME FOR 3229 02:00:38,775 --> 02:00:40,410 THE MOST PART, BUT THERE IS SOME 3230 02:00:40,410 --> 02:00:42,312 INTEGRATION INTO THE HOST GENE. 3231 02:00:42,312 --> 02:00:43,113 THE CLINICAL CONSEQUENCES OF ANY 3232 02:00:43,113 --> 02:00:45,014 OF THAT IN HUMAN HAVE NOT BEEN 3233 02:00:45,014 --> 02:00:48,485 ADDRESSED AT THIS POINT IN TIME. 3234 02:00:48,485 --> 02:00:50,820 THIS IS, OF COURSE, A VIRUS AND 3235 02:00:50,820 --> 02:00:52,021 THE IMMUNE SYSTEM KNOWS HOW TO 3236 02:00:52,021 --> 02:00:53,323 DEAL WITH VIRUSES AND THERE ARE 3237 02:00:53,323 --> 02:00:56,459 DIFFERENT WAVES OF IMMUNITY THAT 3238 02:00:56,459 --> 02:00:58,328 CAN ENCOUNTER A GENE THERAPY. 3239 02:00:58,328 --> 02:01:02,499 THERE'S PRE-EXISTING IMMUNITY, 3240 02:01:02,499 --> 02:01:04,367 IF A PERSON IS ALREADY EXPOSED 3241 02:01:04,367 --> 02:01:06,836 TO THE VIRUS, THERE MAY BE 3242 02:01:06,836 --> 02:01:08,404 NEUTRALIZING ANTIBODIES 3243 02:01:08,404 --> 02:01:11,207 PREVENTING -- ADAPTIVE IMMUNITY 3244 02:01:11,207 --> 02:01:13,309 WHEN THE IMMUNE SYSTEM DEVELOPS 3245 02:01:13,309 --> 02:01:14,778 ANTIGEN-SPECIFIC IMMUNITY 3246 02:01:14,778 --> 02:01:17,147 AGAINST EITHER THE CAPSID OR THE 3247 02:01:17,147 --> 02:01:17,914 TRANS GENE. 3248 02:01:17,914 --> 02:01:20,250 ALL OF THESE HAVE CLINICAL 3249 02:01:20,250 --> 02:01:22,652 CONSEQUENCES AT THE PREDOSING, 3250 02:01:22,652 --> 02:01:25,355 PRE-EXISTING NEUTRALIZING 3251 02:01:25,355 --> 02:01:28,091 ANTIBODIES CAN -- DOSING, BUT 3252 02:01:28,091 --> 02:01:29,626 IMMUNE ACTIVATION EVEN AT THE 3253 02:01:29,626 --> 02:01:30,794 INNATE NONSPECIFIC LEVEL CAN 3254 02:01:30,794 --> 02:01:31,795 CAUSE PROBLEMS. 3255 02:01:31,795 --> 02:01:33,096 THE MOST IMPORTANT PROBLEM THAT 3256 02:01:33,096 --> 02:01:36,099 WE HAVE ENCOUNTERED IN THE FIELD 3257 02:01:36,099 --> 02:01:41,304 IS THAT OF THROMBOTIC MICRO 3258 02:01:41,304 --> 02:01:41,704 ANGIOPATHY. 3259 02:01:41,704 --> 02:01:43,139 IT LIKES TO BE ACTIVATED BY 3260 02:01:43,139 --> 02:01:43,573 VIRUSES. 3261 02:01:43,573 --> 02:01:45,875 THIS DIAGRAM HERE IS FROM A 3262 02:01:45,875 --> 02:01:47,277 COVID-19 EXAMPLE, BUT THESE 3263 02:01:47,277 --> 02:01:53,616 PATHWAYS CAN BE -- COMPLEX 3264 02:01:53,616 --> 02:01:55,251 MEDIATED AND THEN ACTIVATE A 3265 02:01:55,251 --> 02:01:57,220 COMPLEMENT CASCADE THAT CAN LEAD 3266 02:01:57,220 --> 02:02:00,290 TO INJURY OF THE ENDOTHELIAL 3267 02:02:00,290 --> 02:02:03,126 COMPARTMENT LEADING TO TMA. 3268 02:02:03,126 --> 02:02:04,460 TMA IS A SERIOUS CLINICAL 3269 02:02:04,460 --> 02:02:05,562 CONSEQUENCE THAT HAS OCCURRED IN 3270 02:02:05,562 --> 02:02:06,696 A NUMBER OF THE GENE THERAPY 3271 02:02:06,696 --> 02:02:08,364 TRIALS. 3272 02:02:08,364 --> 02:02:18,007 THIS IS A SLIDE PUT TOGETHER BY 3273 02:02:18,007 --> 02:02:20,910 DR. LAFORET. 3274 02:02:20,910 --> 02:02:23,479 THERE'S ALSO A TENDENCY, OF 3275 02:02:23,479 --> 02:02:25,315 COURSE, TO HIGH TOTAL DOSES THAT 3276 02:02:25,315 --> 02:02:28,551 ARE REQUIRED IN MUSCLE DISEASE 3277 02:02:28,551 --> 02:02:29,319 TREATMENT AT THE MOMENT. 3278 02:02:29,319 --> 02:02:31,654 ALL THE PATIENTS AT VERY HIGH 3279 02:02:31,654 --> 02:02:32,822 DOSES ARE AT PARTICULAR RISK OF 3280 02:02:32,822 --> 02:02:36,292 THIS. 3281 02:02:36,292 --> 02:02:37,427 THERE'S ALSO NOW OCCURRING IN 3282 02:02:37,427 --> 02:02:39,495 SMALL PATIENTS WITH SMA TRIALS 3283 02:02:39,495 --> 02:02:40,730 WHERE THERE HAVE BEEN SEVERAL 3284 02:02:40,730 --> 02:02:42,899 FATAL CASES OF TMA. 3285 02:02:42,899 --> 02:02:46,736 SOME OF THAT PROBABLY MEDIATED 3286 02:02:46,736 --> 02:02:47,971 BY SUSCEPTIBILITY IN THE 3287 02:02:47,971 --> 02:02:49,839 COMPLEMENT PATHWAY. 3288 02:02:49,839 --> 02:02:51,641 THIS IS IMPORTANT TO FIGURE OUT 3289 02:02:51,641 --> 02:02:54,777 BECAUSE THERE ARE WAYS TO 3290 02:02:54,777 --> 02:02:55,945 INTERVENE WITH THE COMPLEMENT 3291 02:02:55,945 --> 02:03:00,917 PATHWAY IN PARTICULAR, CLINICAL 3292 02:03:00,917 --> 02:03:01,517 TRIALS. 3293 02:03:01,517 --> 02:03:04,721 A SECOND PROBABLY INNATE DRIVEN 3294 02:03:04,721 --> 02:03:05,989 ADVERSE EVENT THAT CAN HAPPEN IN 3295 02:03:05,989 --> 02:03:07,957 AAV MEDIATED GENE THERAPY, 3296 02:03:07,957 --> 02:03:10,460 YOU'RE AWARE OF THIS PAPER HERE, 3297 02:03:10,460 --> 02:03:12,762 WHERE IT LOOKS LIKE AN AAV 3298 02:03:12,762 --> 02:03:16,499 TRIGGERED HYPERINFLAMMATORY 3299 02:03:16,499 --> 02:03:17,567 STATE/CYTOKINE RELEASE STATE 3300 02:03:17,567 --> 02:03:18,902 THAT ALSO IS ON THE LEVEL OF 3301 02:03:18,902 --> 02:03:19,836 INNATE IMMUNITY. 3302 02:03:19,836 --> 02:03:23,973 BUT IN CAN ALSO BE LIVER 3303 02:03:23,973 --> 02:03:25,074 INVOLVEMENT, LIVER TOXICITY AS 3304 02:03:25,074 --> 02:03:27,777 PART OF PROBABLY AN ADAPTIVE 3305 02:03:27,777 --> 02:03:30,413 IMMUNE RESPONSE AGAINST THE 3306 02:03:30,413 --> 02:03:32,515 CAPSID ITSELF. 3307 02:03:32,515 --> 02:03:34,550 THIS HAS BEEN KNOWN SINCE THE 3308 02:03:34,550 --> 02:03:36,719 DAYS OF HEMOPHILIA GENE THERAPY 3309 02:03:36,719 --> 02:03:40,556 AND IS STILL HAPPENING. 3310 02:03:40,556 --> 02:03:46,696 IT'S LARGE LEHMANAGEABLE WI LARH 3311 02:03:46,696 --> 02:03:48,398 IMMUNE MODULATION. 3312 02:03:48,398 --> 02:03:51,834 THERE ARE ALSO DISEASE SPECIFIC 3313 02:03:51,834 --> 02:03:56,406 FACTORS WE CAN SEE, WE HAD A 3314 02:03:56,406 --> 02:04:02,412 NUMBER OF PATIENT DEATHS -- NOT 3315 02:04:02,412 --> 02:04:05,281 FULLY RECOGNIZED DISEASE 3316 02:04:05,281 --> 02:04:10,253 SUSCEPTIBILITY IF NA CHOLE -- 3317 02:04:10,253 --> 02:04:13,756 STASIS IS EXACERBATED BY THE 3318 02:04:13,756 --> 02:04:15,391 HIGH LOAD OF VIRUS TO THE LIVER. 3319 02:04:15,391 --> 02:04:18,695 THEN LASTLY THERE'S THE TRANS 3320 02:04:18,695 --> 02:04:19,762 GENE DEVELOPED WITH THE GENE 3321 02:04:19,762 --> 02:04:21,531 THERAPY, THIS IS WHAT REALLY 3322 02:04:21,531 --> 02:04:23,433 TRIGGERED THE WORKSHOP THAT I 3323 02:04:23,433 --> 02:04:26,703 WOULD BE BRIEFLY REPORTING 3324 02:04:26,703 --> 02:04:27,070 ABOUT. 3325 02:04:27,070 --> 02:04:29,072 THIS HAPPENED IN THE DUCHENNE 3326 02:04:29,072 --> 02:04:29,605 MUSCULAR DYSTROPHY TRIALS. 3327 02:04:29,605 --> 02:04:31,674 YOU CAN SEE THESE ARE THE FOUR 3328 02:04:31,674 --> 02:04:35,645 CONSTRUCTS CURRENTLY IN THE 3329 02:04:35,645 --> 02:04:37,013 CLINIC. 3330 02:04:37,013 --> 02:04:40,316 THEY'RE ALL MINIATURIZED 3331 02:04:40,316 --> 02:04:42,685 BECAUSE -- IS TOO BIG FOR AAV TO 3332 02:04:42,685 --> 02:04:43,286 BE LOADED INTO IT. 3333 02:04:43,286 --> 02:04:45,355 THEY ALL HAVE COMMON ELEMENTS, 3334 02:04:45,355 --> 02:04:49,559 IN PARTICULAR THE P -- REPEAT 3335 02:04:49,559 --> 02:04:50,593 DOMAINS IN THEM. 3336 02:04:50,593 --> 02:04:52,061 YOU SEE THE VARIOUS SPONSORS 3337 02:04:52,061 --> 02:04:53,596 THAT ARE IN CLINICAL TRIALS. 3338 02:04:53,596 --> 02:04:56,165 WHAT HAPPENED IS THAT IN FIVE 3339 02:04:56,165 --> 02:04:57,567 DUCHENNE SUBJECTS, RIGHT ABOUT 3340 02:04:57,567 --> 02:05:01,037 THE SAME TIME OF THIS AGE THEY 3341 02:05:01,037 --> 02:05:03,773 DEVELOPED A SEVERE MYOSITIS AND 3342 02:05:03,773 --> 02:05:05,508 MYOCARDITIS ABOUT THREE TO FOUR 3343 02:05:05,508 --> 02:05:06,476 WEEKS AFTER GENE TRANSFER, 3344 02:05:06,476 --> 02:05:10,246 LEADING TO ICU STAYS, LOSS OF 3345 02:05:10,246 --> 02:05:11,514 AMBULATION, SOME RESPIRATORY 3346 02:05:11,514 --> 02:05:13,516 REQUIREMENTS, AND IMMUNE 3347 02:05:13,516 --> 02:05:14,050 MODULATION REQUIREMENT. 3348 02:05:14,050 --> 02:05:15,785 ALL OF THEM IMPROVED IN THE END, 3349 02:05:15,785 --> 02:05:18,388 BUT THESE WERE CRITICAL EVENTS 3350 02:05:18,388 --> 02:05:19,522 THAT WERE ASSOCIATED WITH THE 3351 02:05:19,522 --> 02:05:20,690 MYOSITIS. 3352 02:05:20,690 --> 02:05:23,593 WHAT HAPPENED REALLY AROUND THIS 3353 02:05:23,593 --> 02:05:25,328 WAS QUITE REMARKABLE. 3354 02:05:25,328 --> 02:05:31,601 IT WAS FRANCESCA MUNTONI WHO HAD 3355 02:05:31,601 --> 02:05:32,568 OVERSIGHT ON A LOT OF THESE 3356 02:05:32,568 --> 02:05:35,004 TRIALS AND RECOGNIZED 3357 02:05:35,004 --> 02:05:36,272 SIMILARITIES IN THEM. 3358 02:05:36,272 --> 02:05:38,007 HE CONTACTED ME AND WE TOGETHER 3359 02:05:38,007 --> 02:05:39,108 CONTACTED ALL THE SPONSORS 3360 02:05:39,108 --> 02:05:40,109 INVOLVED IN THESE CLINICAL 3361 02:05:40,109 --> 02:05:40,977 TRIALS AND THERE WAS NO 3362 02:05:40,977 --> 02:05:42,779 RESISTANCE TO GET TOGETHER AND 3363 02:05:42,779 --> 02:05:44,147 REALLY REALTIME TO COME TOGETHER 3364 02:05:44,147 --> 02:05:45,681 IN A CLOSED DOOR MEETING TO 3365 02:05:45,681 --> 02:05:46,883 DISCUSS THESE EVENTS AND SEE 3366 02:05:46,883 --> 02:05:49,452 WHAT WAS COMMON TO THEM. 3367 02:05:49,452 --> 02:05:53,423 WE HAD AN EXPERT PANEL PRO BONO 3368 02:05:53,423 --> 02:05:55,358 THAT HELPED US ANALYZE THESE 3369 02:05:55,358 --> 02:05:56,926 EVENTS, AND THIS IS NOW 3370 02:05:56,926 --> 02:05:57,894 PUBLISHED AS A LETTER. 3371 02:05:57,894 --> 02:05:59,495 WHAT WAS IMMEDIATELY CLEAR 3372 02:05:59,495 --> 02:06:01,364 COMPARING THESE EVENTS IS THAT 3373 02:06:01,364 --> 02:06:04,400 THE PATIENT HAD -- THESE 3374 02:06:04,400 --> 02:06:05,668 PATIENTS HAD GENOMIC DELETIONS 3375 02:06:05,668 --> 02:06:07,070 THAT OVERLAPPED WITH COMMON PART 3376 02:06:07,070 --> 02:06:08,938 OF THE TRANS GENES DELIVERED. 3377 02:06:08,938 --> 02:06:12,108 IN OTHER WORDS, THESE PATIENTS 3378 02:06:12,108 --> 02:06:13,476 WERE IMMUNONAIVE FOOR THIS NEW 3379 02:06:13,476 --> 02:06:15,044 ANTIGEN, THIS NEW TRANS GENE 3380 02:06:15,044 --> 02:06:19,148 THAT WAS DELIVERED WITH THE GENE 3381 02:06:19,148 --> 02:06:19,515 THERAPY. 3382 02:06:19,515 --> 02:06:21,150 THEY RECOGNIZE IT AS FOREIGN AND 3383 02:06:21,150 --> 02:06:25,621 MOUNTED A REJECTION AGAINST THE 3384 02:06:25,621 --> 02:06:26,622 T-CELL REACTION AGAINST IT THAT 3385 02:06:26,622 --> 02:06:27,957 CAUSED THESE CRITICAL EVENTS. 3386 02:06:27,957 --> 02:06:29,725 THAT HAS LED TO IMMEDIATE 3387 02:06:29,725 --> 02:06:31,561 ADJUSTMENT TO THE 3388 02:06:31,561 --> 02:06:32,228 INCLUSION/EXCLUSION CRITERIA IN 3389 02:06:32,228 --> 02:06:33,629 ALL OF THESE TRIALS TO EXCLUDE 3390 02:06:33,629 --> 02:06:34,530 THESE HIEMP CRITICAL REGIONS 3391 02:06:34,530 --> 02:06:37,133 THAT ARE THE MOST IMMUNOGENIC AS 3392 02:06:37,133 --> 02:06:38,034 FAR AS WE UNDERSTAND AT THIS 3393 02:06:38,034 --> 02:06:38,768 POINT IN TIME. 3394 02:06:38,768 --> 02:06:40,403 IT ALSO LED THEM TO THE 3395 02:06:40,403 --> 02:06:41,904 REALIZATION THAT THIS IS A 3396 02:06:41,904 --> 02:06:44,574 REALLY CONSTRUCTIVE WAY TO GO 3397 02:06:44,574 --> 02:06:45,908 AFTER THIS REALLY COMPARING 3398 02:06:45,908 --> 02:06:46,976 DATA, PUTTING THINGS ON THE 3399 02:06:46,976 --> 02:06:50,213 TABLE THAT ARE REALLY CLASS 3400 02:06:50,213 --> 02:06:52,715 EFFECTS TO TRY TO DE-RISK GENE 3401 02:06:52,715 --> 02:06:55,852 THERAPY GOING FORWA FORWARD. 3402 02:06:55,852 --> 02:07:01,991 THERE ARE A NUMBER OF MEETINGS 3403 02:07:01,991 --> 02:07:04,327 PREVEPRECEDING THIS, ANOTHER EDN 3404 02:07:04,327 --> 02:07:06,529 COMING UP SOON, AND THEN ALSO A 3405 02:07:06,529 --> 02:07:08,664 MEETING BY THE ENMC. 3406 02:07:08,664 --> 02:07:10,433 THESE ARE OPEN MEETINGS, A 3407 02:07:10,433 --> 02:07:12,001 MEETING THAT WE THEN DID AT THE 3408 02:07:12,001 --> 02:07:14,837 NIH WAS MEANT TO RE-CREATE THAT 3409 02:07:14,837 --> 02:07:17,240 CLOSED DOOR -- THIS OPEN 3410 02:07:17,240 --> 02:07:19,642 DISCUSSION, THIS DATA SHARING 3411 02:07:19,642 --> 02:07:21,110 WITHOUT RESTRICTION IN A 3412 02:07:21,110 --> 02:07:24,947 SITUATION WHERE THERE WAS 3413 02:07:24,947 --> 02:07:27,183 ABSOLUTE CONFIDENTIALITY. 3414 02:07:27,183 --> 02:07:29,785 AGAIN, FRANCESCA MUNTONI AND 3415 02:07:29,785 --> 02:07:31,954 MYSELF INITIATED THIS AND WE HAD 3416 02:07:31,954 --> 02:07:33,623 SUPERB SUPPORT FROM NINDS AS 3417 02:07:33,623 --> 02:07:35,258 WELL AS NCATS TO PUT THIS 3418 02:07:35,258 --> 02:07:38,461 TOGETHER AT THE NIH IN THE 3419 02:07:38,461 --> 02:07:39,328 NATCHER CENTER IN JUNE OF THIS 3420 02:07:39,328 --> 02:07:41,097 YEAR. 3421 02:07:41,097 --> 02:07:44,100 AND THESE ARE THE ATTENDEES. 3422 02:07:44,100 --> 02:07:45,935 IT'S A LARGER GROUP BECAUSE WE 3423 02:07:45,935 --> 02:07:46,769 HAD MORE GROUND TO COVER. 3424 02:07:46,769 --> 02:07:49,705 WE WANTED TO COVER THE EMERGENT 3425 02:07:49,705 --> 02:07:51,507 ADVERSE EVENTS WITH THE TMAs, 3426 02:07:51,507 --> 02:07:52,708 THE LIVER, THE HEART EVENTS THAT 3427 02:07:52,708 --> 02:07:54,377 WE'VE SEEN ACROSS THE CLINICAL 3428 02:07:54,377 --> 02:07:56,212 TRIALS, AND YOU CAN SEE THE 3429 02:07:56,212 --> 02:07:57,780 ATTENDEES AT THIS MEETING, THE 3430 02:07:57,780 --> 02:07:59,182 PARTICIPANTS WERE BOTH FROM 3431 02:07:59,182 --> 02:08:01,117 ACADEMIA, BUT ALSO FROM ALL THE 3432 02:08:01,117 --> 02:08:03,085 COMPANIES INVOLVED IN THESE 3433 02:08:03,085 --> 02:08:04,120 TRIALS, AND THEY WERE RIGHT 3434 02:08:04,120 --> 02:08:06,522 THERE AT THE TABLE, READY TO 3435 02:08:06,522 --> 02:08:08,624 SHARE AND DISCUSS DATA. 3436 02:08:08,624 --> 02:08:10,159 WE HAD SOLID CONTRIBUTION, OF 3437 02:08:10,159 --> 02:08:15,398 COURSE, ALSO FROM THE NIH ITS 3438 02:08:15,398 --> 02:08:15,631 ITSELF. 3439 02:08:15,631 --> 02:08:16,566 A NUMBER OF PROGRAM OFFICERS 3440 02:08:16,566 --> 02:08:19,202 WERE ALSO IN THE ROOM, INCLUDING 3441 02:08:19,202 --> 02:08:20,536 GLEN, OF COURSE, TO REALLY TAKE 3442 02:08:20,536 --> 02:08:22,471 MEASURE OF WHAT IS HAPPENING IN 3443 02:08:22,471 --> 02:08:22,838 THE FIELD. 3444 02:08:22,838 --> 02:08:26,876 THIS WAS A VERY, VERY PRODUCTIVE 3445 02:08:26,876 --> 02:08:29,145 DISCUSSION THAT LED TO THE 3446 02:08:29,145 --> 02:08:31,113 FORMATION -- BEFORE I MOVE 3447 02:08:31,113 --> 02:08:32,081 FORWARD, MY SINCERE THANKS TO 3448 02:08:32,081 --> 02:08:38,054 OUR ADMINISTRATIVE ORGANIZERS, 3449 02:08:38,054 --> 02:08:40,656 IN PARTICULAR DEANNA AND 3450 02:08:40,656 --> 02:08:41,624 CHRISTOPHER AT NINDS THAT MADE 3451 02:08:41,624 --> 02:08:43,326 THIS HAPPEN. 3452 02:08:43,326 --> 02:08:44,627 HERE IS A RUNDOWN OF THE MEETING 3453 02:08:44,627 --> 02:08:44,860 AGENDA. 3454 02:08:44,860 --> 02:08:47,163 YOU CAN SEE WE ORGANIZED IT 3455 02:08:47,163 --> 02:08:49,332 AROUND THESE EMERGING 3456 02:08:49,332 --> 02:08:51,100 TOXICITIES, THE ANTI-TRANS GENE 3457 02:08:51,100 --> 02:08:53,402 IMMUNITY, THE TMA AND ORGAN 3458 02:08:53,402 --> 02:08:56,105 TOXICITY, INCLUDING THE HEART 3459 02:08:56,105 --> 02:09:02,011 AND THE HEPATOP ATHIES. 3460 02:09:02,011 --> 02:09:03,479 THE FORMATION OF WORKING GROUPS 3461 02:09:03,479 --> 02:09:08,684 AROUND THESE AREAS OF TO TOXICI. 3462 02:09:08,684 --> 02:09:09,752 COMING OUT OF THIS, THESE 3463 02:09:09,752 --> 02:09:10,920 MEETING GROUPS ARE GOING TO MEET 3464 02:09:10,920 --> 02:09:13,022 TWO TIMES ON LINE TO REALLY 3465 02:09:13,022 --> 02:09:14,290 DRILL DEEPER INTO THESE EVENTS, 3466 02:09:14,290 --> 02:09:15,524 SEE WHAT DATA NEEDS TO BE 3467 02:09:15,524 --> 02:09:17,827 REPORTED, WHAT DATA NEEDS TO BE 3468 02:09:17,827 --> 02:09:20,396 RECORDED, WHAT ARE THE OPTIONS 3469 02:09:20,396 --> 02:09:22,498 FOR INTERVENTION, AND HOW DO WE 3470 02:09:22,498 --> 02:09:24,467 SHARE THIS DATA SO THAT WE CAN 3471 02:09:24,467 --> 02:09:25,801 DE-RISK AND DEVELOP PROTOCOLS 3472 02:09:25,801 --> 02:09:28,170 AROUND THESE EVENTS THAT MAKE 3473 02:09:28,170 --> 02:09:29,672 GENE THERAPY SAFER, WITH THE 3474 02:09:29,672 --> 02:09:32,241 HOPE TO BE ABLE TO DISSEMINATE 3475 02:09:32,241 --> 02:09:34,176 AND COMMUNICATE AND FIND DATA 3476 02:09:34,176 --> 02:09:35,778 SHARING PLATFORMS THAT HELP THE 3477 02:09:35,778 --> 02:09:39,482 FIELD TO UNDERSTAND THESE 3478 02:09:39,482 --> 02:09:40,883 TOXICITIES, WHICH IF THEY'RE 3479 02:09:40,883 --> 02:09:44,186 UNDERSTOOD, CAN BE MANAGED AND 3480 02:09:44,186 --> 02:09:44,620 CONTROLLED. 3481 02:09:44,620 --> 02:09:46,088 BUT THEY CAN ONLY BE UNDERSTOOD 3482 02:09:46,088 --> 02:09:48,057 IF THE DATA IS RECORDED AND 3483 02:09:48,057 --> 02:09:50,826 SHARED AMONGST THE FIELD. 3484 02:09:50,826 --> 02:09:54,063 SO THAT WAS THE TA TANGIBLE OUTE 3485 02:09:54,063 --> 02:09:55,931 OF THIS MEETING, AND HOPEFULLY 3486 02:09:55,931 --> 02:09:57,633 NEXT YEAR WE CAN REPORT ON WHAT 3487 02:09:57,633 --> 02:09:58,734 THESE WORKING GROUPS CAME UP 3488 02:09:58,734 --> 02:10:01,470 WITH AND HOW WE DISSEMINATE THAT 3489 02:10:01,470 --> 02:10:01,771 INFORMATION. 3490 02:10:01,771 --> 02:10:06,742 THANK YOU. 3491 02:10:06,742 --> 02:10:08,577 >> THANK YOU SO MUCH, CARSTEN. 3492 02:10:08,577 --> 02:10:11,714 WE LOOK FORWARD TO FUTURE 3493 02:10:11,714 --> 02:10:12,581 RECOMMENDATIONS FROM THIS GROUP 3494 02:10:12,581 --> 02:10:13,983 ON STRATEGIES TO ENHANCE THE 3495 02:10:13,983 --> 02:10:17,420 SAFETY AND EFFICACY OF THE AAV 3496 02:10:17,420 --> 02:10:19,622 GENE THERAPIES. 3497 02:10:19,622 --> 02:10:20,790 AND WE'RE HOPING THAT SOME OF 3498 02:10:20,790 --> 02:10:22,258 THE THERAPIES CAN BE PERFORMED 3499 02:10:22,258 --> 02:10:23,259 IN THE CLINICAL CENTER. 3500 02:10:23,259 --> 02:10:26,162 I DON'T KNOW IF YOU HEARD MY 3501 02:10:26,162 --> 02:10:29,098 PREVIOUS COMMENT, BUT -- NEXT, 3502 02:10:29,098 --> 02:10:30,933 WE'RE GOING TO HEAR FROM 3503 02:10:30,933 --> 02:10:32,401 DR. ANDY BERGLUND FROM THE 3504 02:10:32,401 --> 02:10:34,904 UNIVERSITY OF ALBANY. 3505 02:10:34,904 --> 02:10:38,107 I'M ASSUMING THAT'S SUNI ALBANY, 3506 02:10:38,107 --> 02:10:40,142 BUT YOU CAN CORRECT ME -- YES. 3507 02:10:40,142 --> 02:10:43,045 THERE IT IS. 3508 02:10:43,045 --> 02:10:44,246 I DIDN'T KNOW ABOUT A UNIVERSITY 3509 02:10:44,246 --> 02:10:47,683 OF ALBANY. 3510 02:10:47,683 --> 02:10:51,020 DR. BURG LAND WILL TELL US ABOUT 3511 02:10:51,020 --> 02:10:52,521 A CONFERENCE ON MYOTONIC 3512 02:10:52,521 --> 02:10:53,556 DYSTROPHY, THE NEXT GENERATION. 3513 02:10:53,556 --> 02:10:54,890 >> THANK YOU VERY MUCH FOR THIS 3514 02:10:54,890 --> 02:10:59,261 TIME TO SHARE A FEW UPDATES. 3515 02:10:59,261 --> 02:11:00,763 SUNI ALBANY, UNIVERSITY OF 3516 02:11:00,763 --> 02:11:02,198 ALBANY, AND I'M DIRECTOR OF THE 3517 02:11:02,198 --> 02:11:02,698 RNA INSTITUTE HERE. 3518 02:11:02,698 --> 02:11:04,433 I'M GOING TO TELL YOU ABOUT A 3519 02:11:04,433 --> 02:11:05,634 RECENT MEETING IN OCTOBER THAT 3520 02:11:05,634 --> 02:11:08,504 REALLY FOCUSED ON YOUNG 3521 02:11:08,504 --> 02:11:13,676 INVESTIGATORS. 3522 02:11:13,676 --> 02:11:15,911 I'LL BRIEFLY TOUCH ON AN EFFORT 3523 02:11:15,911 --> 02:11:19,148 WE'RE DOING WITH UNIVERSITY OF 3524 02:11:19,148 --> 02:11:21,650 ROCHESTER AND CHARLES THORTON IN 3525 02:11:21,650 --> 02:11:26,288 PARTICULAR ON A NEW YORK STATE 3526 02:11:26,288 --> 02:11:27,757 MYOTONIC DYSTROPHY CENTER. 3527 02:11:27,757 --> 02:11:29,358 SO IT SOMETHING WE'VE DECIDED TO 3528 02:11:29,358 --> 02:11:30,659 BUILD BECAUSE WE HAVE EXPERTISE 3529 02:11:30,659 --> 02:11:32,728 HERE IN ALBANY AND AT ROCHESTER 3530 02:11:32,728 --> 02:11:34,497 AROUND MYOTONIC DYSTROPHY, AND 3531 02:11:34,497 --> 02:11:36,565 IT'S ALSO BOLSTERED BY THE 3532 02:11:36,565 --> 02:11:38,501 RECENT PUBLICATION BY NIC 3533 02:11:38,501 --> 02:11:39,168 JOHNSON AND COLLEAGUES SHOWING 3534 02:11:39,168 --> 02:11:40,669 THAT THE PREVALENCE IN NEW YORK 3535 02:11:40,669 --> 02:11:44,073 STATE OF THE DM1 MUTATION IS 3536 02:11:44,073 --> 02:11:45,274 1 IN 2100, WHICH IS RELATIVELY 3537 02:11:45,274 --> 02:11:45,641 HIGH. 3538 02:11:45,641 --> 02:11:48,177 SO WE'VE DECIDED THAT THIS IS AN 3539 02:11:48,177 --> 02:11:50,146 OPPORTUNITY TO HOPEFULLY MAKE 3540 02:11:50,146 --> 02:11:51,580 THE STATE AWARE OF THIS AND 3541 02:11:51,580 --> 02:11:52,982 FOCUS RESOURCES ON IT. 3542 02:11:52,982 --> 02:11:56,252 SO WE ARE WORKING WITH THE STATE 3543 02:11:56,252 --> 02:11:58,921 TO GET A CENTER OF EXCELLENCE IN 3544 02:11:58,921 --> 02:12:02,091 RNA RESEARCH AND THERAPEUTICS 3545 02:12:02,091 --> 02:12:03,626 FUNDED WHICH WOULD PROVIDE SOME 3546 02:12:03,626 --> 02:12:05,428 STATE STABLE FUNDING FOR 3547 02:12:05,428 --> 02:12:06,462 MYOTONIC DYSTROPHY AND WE'RE 3548 02:12:06,462 --> 02:12:08,330 BUILDING THIS OFF OF A NEW YORK 3549 02:12:08,330 --> 02:12:09,231 AUTISM CENTER MODEL. 3550 02:12:09,231 --> 02:12:10,433 ONE OF THE OPPORTUNITIES IS TO 3551 02:12:10,433 --> 02:12:12,268 DRAW MORE RESEARCHERS, 3552 02:12:12,268 --> 02:12:13,102 CLINICIANS AND PATIENTS INTO 3553 02:12:13,102 --> 02:12:15,471 NEW YORK STATE. 3554 02:12:15,471 --> 02:12:17,273 SO WE'RE ALSO RAISING AWARENESS 3555 02:12:17,273 --> 02:12:18,874 WITHIN THE STATE BECAUSE AS 3556 02:12:18,874 --> 02:12:20,943 MAYBE MANY OF YOU ARE AWARE, 3557 02:12:20,943 --> 02:12:23,078 MYOTONIC DYSTROPHY IS 3558 02:12:23,078 --> 02:12:26,882 UNDERAPPRECIATED IN TERMS OF 3559 02:12:26,882 --> 02:12:27,650 PREVALENCE AND SORT OF 3560 02:12:27,650 --> 02:12:28,751 RECOGNITION SO WE'RE WORKING 3561 02:12:28,751 --> 02:12:30,152 WITH MDF AND THE ALLIANCE TO 3562 02:12:30,152 --> 02:12:30,753 RAISE AWARENESS. 3563 02:12:30,753 --> 02:12:31,921 SO WE'VE HAD SOME SUCCESS 3564 02:12:31,921 --> 02:12:33,756 WORKING WITH OUR NEW YORK STATE 3565 02:12:33,756 --> 02:12:36,725 COLLEAGUES TO LIGHT UP NEW YORK 3566 02:12:36,725 --> 02:12:37,593 GREEN ON SEPTEMBER 15TH, AND I 3567 02:12:37,593 --> 02:12:39,462 JUST WANTED TO SHOW A FEW 3568 02:12:39,462 --> 02:12:40,796 PICTURES. 3569 02:12:40,796 --> 02:12:42,565 THIS PAST YEAR WE WERE ABLE TO 3570 02:12:42,565 --> 02:12:43,999 GET NIAGARA FALLS LIT UP GREEN 3571 02:12:43,999 --> 02:12:46,735 AND THEN THE STATE CAPITAL AND 3572 02:12:46,735 --> 02:12:50,439 THE SUNY CENTRAL BUILDINGS AND 3573 02:12:50,439 --> 02:12:52,074 THE MOYNIHAN TRAIN HALL IN NRKZ. 3574 02:12:52,074 --> 02:12:53,375 SO WE ARE CONTINUING TO PUSH ON 3575 02:12:53,375 --> 02:12:54,710 THIS EFFORT TO RAISE AWARENESS 3576 02:12:54,710 --> 02:12:56,545 AND WE PLAN TO RAISE A 3577 02:12:56,545 --> 02:12:58,881 FUNDRAISER AROUND THESE EFFORTS 3578 02:12:58,881 --> 02:13:00,549 AROUND SEPTEMBER 15TH, 2024, 3579 02:13:00,549 --> 02:13:02,451 WHICH IS INTERNATIONAL MYOTONIC 3580 02:13:02,451 --> 02:13:03,219 DYSTROPHY DAY. 3581 02:13:03,219 --> 02:13:07,690 SO THE MEETING WE DID WAS REALLY 3582 02:13:07,690 --> 02:13:09,525 A COLLABORATION WITH THE 3583 02:13:09,525 --> 02:13:10,426 MARIGOLD FOUNDATION, THE 3584 02:13:10,426 --> 02:13:11,927 MYOTONIC DYSTROPHY FOUNDATION, 3585 02:13:11,927 --> 02:13:12,895 OURSELVES AND THE UNIVERSITY OF 3586 02:13:12,895 --> 02:13:13,462 ROCHESTER. 3587 02:13:13,462 --> 02:13:14,730 WHAT WE WANTED TO DO WAS PROVIDE 3588 02:13:14,730 --> 02:13:15,998 AN OPPORTUNITY TO SUPPORT THE 3589 02:13:15,998 --> 02:13:19,502 YOUNG INVESTIGATORS IN THE FIELD 3590 02:13:19,502 --> 02:13:21,136 AND CONTINUE TO BUILD THEIR 3591 02:13:21,136 --> 02:13:22,238 CONNECTIONS AND HELP THEM BE 3592 02:13:22,238 --> 02:13:26,542 SUCCESSFUL IN THE FIELD. 3593 02:13:26,542 --> 02:13:28,878 SO WE BROUGHT THEM ALL TOGETHER 3594 02:13:28,878 --> 02:13:31,080 AT THE MOHONK MOUNTAIN HOUSE 3595 02:13:31,080 --> 02:13:36,085 BETWEEN THE THIRD AND THE SIXTH. 3596 02:13:36,085 --> 02:13:38,554 SENIOR PH.D. STUDENTS, POST TOK 3597 02:13:38,554 --> 02:13:40,890 TO RECALL FELLOWS AND FACULTY. 3598 02:13:40,890 --> 02:13:42,091 WE BROUGHT FOLKS FROM 3599 02:13:42,091 --> 02:13:43,025 GOVERNMENT, INDUSTRY, AND THEN 3600 02:13:43,025 --> 02:13:46,695 WE HAD A NICE GROUP OF PATIENT 3601 02:13:46,695 --> 02:13:48,597 ADVOCACIES -- ADVOCATES AND 3602 02:13:48,597 --> 02:13:50,833 ACTUALLY OUR DM AMBASSADORS WERE 3603 02:13:50,833 --> 02:13:52,234 CRITICAL TO REALLY PROVIDE THAT 3604 02:13:52,234 --> 02:13:53,168 INTERACTION WITH THE 3605 02:13:53,168 --> 02:13:54,136 RESEARCHERS, THE BASIC AND 3606 02:13:54,136 --> 02:13:56,405 CLINICAL RESEARCHERS, TO CONNECT 3607 02:13:56,405 --> 02:13:57,206 WITH THE FAMILIES, SO MANY OF 3608 02:13:57,206 --> 02:14:01,577 THEM HAVE CONNECTED WITH 3609 02:14:01,577 --> 02:14:02,912 FAMILIES BEFORE BUT WE REALLY 3610 02:14:02,912 --> 02:14:04,213 WANTED THEM TO FEEL A PERSONAL 3611 02:14:04,213 --> 02:14:06,115 CONNECTION AND MAYBE EVEN MAKE A 3612 02:14:06,115 --> 02:14:06,649 LONG-TERM CONNECTION. 3613 02:14:06,649 --> 02:14:08,350 SO WE HAD TALKS BY EXPERTS IN 3614 02:14:08,350 --> 02:14:09,685 THE FIELD WITH BREAKOUT SESSIONS 3615 02:14:09,685 --> 02:14:11,287 TO DISCUSS AND COLLECT IDEAS 3616 02:14:11,287 --> 02:14:12,855 WHERE WE COULD MOVE FORWARD AS A 3617 02:14:12,855 --> 02:14:14,623 FIELD TOGETHER. 3618 02:14:14,623 --> 02:14:15,824 TALKS FOCUSED ON ANSWERING 3619 02:14:15,824 --> 02:14:16,926 QUESTIONS IN THE FIELD AND WHAT 3620 02:14:16,926 --> 02:14:18,727 NEEDS TO BE DONE TO MOVE THE 3621 02:14:18,727 --> 02:14:19,295 FIELD FORWARD. 3622 02:14:19,295 --> 02:14:20,596 AND ONE OF THE THINGS THAT I 3623 02:14:20,596 --> 02:14:21,797 ACTUALLY HAD NEVER SEEN BEFORE 3624 02:14:21,797 --> 02:14:23,999 WAS A CLINICAL DEMONSTRATION. 3625 02:14:23,999 --> 02:14:27,002 ONE OF OUR CLINICIANS WITH ONE 3626 02:14:27,002 --> 02:14:28,470 OF THE INDIVIDUALS AFFECTED BY 3627 02:14:28,470 --> 02:14:31,407 MYOTONIC DYSTROPHY DID A WHOLE 3628 02:14:31,407 --> 02:14:35,077 HOUR-LONG SORT OF OBSERVATION 3629 02:14:35,077 --> 02:14:36,612 AND DEMONSTRATION OF HOW 3630 02:14:36,612 --> 02:14:37,846 CLINICIANS INTERACT WITH 3631 02:14:37,846 --> 02:14:39,181 PATIENTS, SORT OF THAT FIRST 3632 02:14:39,181 --> 02:14:40,115 TIME, UNDERSTANDING WHAT'S 3633 02:14:40,115 --> 02:14:43,018 HAPPENING AND THE NEEDS AND 3634 02:14:43,018 --> 02:14:44,153 THINGS LIKE THAT, SO THAT WAS 3635 02:14:44,153 --> 02:14:45,487 REALLY A POWERFUL THING I THINK 3636 02:14:45,487 --> 02:14:46,689 FOR ALL OF US TO WITNESS, AND IT 3637 02:14:46,689 --> 02:14:47,489 WAS GREAT THAT ONE OF THE 3638 02:14:47,489 --> 02:14:48,490 PATIENT WAS WILLING TO DO THAT 3639 02:14:48,490 --> 02:14:52,127 WITH US. 3640 02:14:52,127 --> 02:14:53,996 SO THE WAY WE WENT ABOUT THIS IS 3641 02:14:53,996 --> 02:14:56,966 WE CONTACTED AS MANY SENIOR DM 3642 02:14:56,966 --> 02:14:57,900 RESEARCHERS AS WE COULD FIND. 3643 02:14:57,900 --> 02:15:00,069 WE ASKED THEM TO NOMINATE WHO 3644 02:15:00,069 --> 02:15:02,004 THEY THOUGHT WOULD BE A GREAT 3645 02:15:02,004 --> 02:15:03,305 JUNIOR INVESTIGATOR WHO WOULD 3646 02:15:03,305 --> 02:15:04,506 REALLY BENEFIT FROM THIS 3647 02:15:04,506 --> 02:15:06,141 MEETING, SO WE RECEIVED 51 3648 02:15:06,141 --> 02:15:07,676 RESPONSES FROM THE DM COMMUNITY. 3649 02:15:07,676 --> 02:15:10,379 WE MADE 44 INVITATIONS, AND 3650 02:15:10,379 --> 02:15:11,981 ALMOST EVERY ONE OF THEM JOINED 3651 02:15:11,981 --> 02:15:12,281 US. 3652 02:15:12,281 --> 02:15:15,284 TWO HAD TO JOIN US REMOTE. 3653 02:15:15,284 --> 02:15:16,385 FOR VARIOUS REASONS. 3654 02:15:16,385 --> 02:15:18,153 AND THE CRITERIA AND 3655 02:15:18,153 --> 02:15:19,088 INSTRUCTIONS FOR THE NOMINEES, 3656 02:15:19,088 --> 02:15:21,256 WE HAD ONE PER LAB. 3657 02:15:21,256 --> 02:15:22,224 THEY MUST SPEND A SIGNIFICANT 3658 02:15:22,224 --> 02:15:24,693 PORTION OF THEIR RESEARCH OR 3659 02:15:24,693 --> 02:15:26,195 CLINICAL WORK ON MYOTONIC 3660 02:15:26,195 --> 02:15:27,396 DYSTROPHY, THEY HAVE TO BE EARLY 3661 02:15:27,396 --> 02:15:28,631 YEAR AND HAVE POTENTIAL TO MAKE 3662 02:15:28,631 --> 02:15:30,032 A LASTING IMPACT ON THE FIELD. 3663 02:15:30,032 --> 02:15:31,467 AS I TOLD YOU, THEY WERE, IN 3664 02:15:31,467 --> 02:15:33,002 GENERAL, JUNIOR. 3665 02:15:33,002 --> 02:15:34,603 THERE'S THE -- THE WAY WE DEFINE 3666 02:15:34,603 --> 02:15:34,870 THAT. 3667 02:15:34,870 --> 02:15:35,971 THEN WE THOUGHT THEY WOULD 3668 02:15:35,971 --> 02:15:37,806 BENEFIT FROM LEARNING ABOUT THE 3669 02:15:37,806 --> 02:15:39,008 CURRENT LANDSCAPE IN DM 3670 02:15:39,008 --> 02:15:40,476 THERAPEUTIC APPROACHES AND DRUG 3671 02:15:40,476 --> 02:15:41,143 DEVELOPMENT, AND SORT OF THE 3672 02:15:41,143 --> 02:15:42,511 OPPORTUNITIES AND GAPS THAT THEY 3673 02:15:42,511 --> 02:15:43,846 COULD TAKE ADVANTAGE. 3674 02:15:43,846 --> 02:15:45,514 AND SO THEY COULD APPLY THIS 3675 02:15:45,514 --> 02:15:46,849 KNOWLEDGE TO THEIR FUTURE CAREER 3676 02:15:46,849 --> 02:15:48,217 EFFORTS. 3677 02:15:48,217 --> 02:15:49,351 IT WAS A RELATIVELY SMALL 3678 02:15:49,351 --> 02:15:49,718 MEETING. 3679 02:15:49,718 --> 02:15:51,286 WE FELT LIKE THAT WOULD BE A 3680 02:15:51,286 --> 02:15:52,788 REAL STRENGTH FOR THE JUNIOR 3681 02:15:52,788 --> 02:15:54,456 INVESTIGATORS, SO AS I SAID, 41 3682 02:15:54,456 --> 02:15:56,091 NOMINEES JOINED US. 3683 02:15:56,091 --> 02:15:58,961 THERE WERE TWO VIRTUAL AND ONE 3684 02:15:58,961 --> 02:16:03,232 UNFORTUNATELY DIDN'T JOIN US. 3685 02:16:03,232 --> 02:16:05,434 WE BROUGHT IN ADRIENNE CRANER 3686 02:16:05,434 --> 02:16:07,970 WHO'S DONE SOME GREAT WORK IN 3687 02:16:07,970 --> 02:16:09,271 SPINAL MUSCULAR ATROPHY AS A 3688 02:16:09,271 --> 02:16:10,673 PLACE WE WANT TO GET TO, SO HE 3689 02:16:10,673 --> 02:16:12,374 WAS SOMEONE WHO STAYED THE WHOLE 3690 02:16:12,374 --> 02:16:15,377 MEETING AND REALLY ENGAGED WITH 3691 02:16:15,377 --> 02:16:16,211 US, WHICH WAS GREAT. 3692 02:16:16,211 --> 02:16:17,446 WE HAD THE INDIVIDUALS AFFECTED 3693 02:16:17,446 --> 02:16:19,181 WITH MYOTONIC DYSTROPHY AND SOME 3694 02:16:19,181 --> 02:16:20,616 OF THEIR FAMILY MEMBERS JOIN US. 3695 02:16:20,616 --> 02:16:23,318 WE HAD 10 INDUSTRY LEADERS, AND 3696 02:16:23,318 --> 02:16:24,153 THEN ONE OF THE THINGS WE REALLY 3697 02:16:24,153 --> 02:16:27,356 WANTED TO DO IS WE HAD GROUP 3698 02:16:27,356 --> 02:16:28,457 LEADERS WHO HAD JUST, FOR 3699 02:16:28,457 --> 02:16:30,559 EXAMPLE, RECEIVED TENURE OR HAD 3700 02:16:30,559 --> 02:16:36,331 BEEN REALLY SUCCESS FELL SUCCESY 3701 02:16:36,331 --> 02:16:38,701 AND GOT SOME GRANTS. 3702 02:16:38,701 --> 02:16:40,569 WE SET UP GROUP LEADERS WHERE 3703 02:16:40,569 --> 02:16:41,837 THEY HAD SEVEN TO EIGHT OF THE 3704 02:16:41,837 --> 02:16:44,306 JUNIOR TRAINEES, THEY BUILT 3705 02:16:44,306 --> 02:16:45,307 THESE COHORTS SO HOPEFULLY THEY 3706 02:16:45,307 --> 02:16:46,508 WOULD HAVE THESE CONNECTIONS TO 3707 02:16:46,508 --> 02:16:47,443 GO FORWARD WITH. 3708 02:16:47,443 --> 02:16:49,144 THOSE SMALL GROUPS ALLOWED THEM 3709 02:16:49,144 --> 02:16:50,179 TO HAVE LOTS OF PERSONAL 3710 02:16:50,179 --> 02:16:51,447 CONNECTIONS AND TO BUILD OUT 3711 02:16:51,447 --> 02:16:52,314 OPPORTUNITIES. 3712 02:16:52,314 --> 02:16:55,150 WE HAD FUNDING AGENCIES JOIN US, 3713 02:16:55,150 --> 02:16:56,785 WE HAD TALKS ACTUALLY FROM GLEN 3714 02:16:56,785 --> 02:16:58,487 AND OTHERS TO TELL US ABOUT THE 3715 02:16:58,487 --> 02:16:59,855 OPPORTUNITIES FOR OUR JUNIOR 3716 02:16:59,855 --> 02:17:00,956 INVESTIGATORS. 3717 02:17:00,956 --> 02:17:03,692 SOME OF THE STAFF MEMBERS AND 3718 02:17:03,692 --> 02:17:04,259 FOUNDATIONS. 3719 02:17:04,259 --> 02:17:05,761 A GOOD MIX OF FEMALES AND MALES 3720 02:17:05,761 --> 02:17:07,229 AND THEN 11 DIFFERENT COUNTRIES 3721 02:17:07,229 --> 02:17:08,530 WERE REPRESENTED. 3722 02:17:08,530 --> 02:17:09,865 HERE'S JUST ONE OF THE SMALL 3723 02:17:09,865 --> 02:17:11,266 BREAKOUTS WHERE ONE OF OUR 3724 02:17:11,266 --> 02:17:14,203 INDUSTRY SCIENTISTS FROM AVIDITY 3725 02:17:14,203 --> 02:17:15,637 ARE TELLING THE PATIENTS AND THE 3726 02:17:15,637 --> 02:17:19,141 FAMILIES ABOUT THEIR CLINICAL 3727 02:17:19,141 --> 02:17:19,575 TRIAL. 3728 02:17:19,575 --> 02:17:20,876 SO REALLY OUR GOALS WERE TO 3729 02:17:20,876 --> 02:17:23,178 BUILD THE PROFESSIONAL AND 3730 02:17:23,178 --> 02:17:24,947 PERSONAL NETWORK, THE DM NETWORK 3731 02:17:24,947 --> 02:17:26,982 FOR THESE INDIVIDUALS, IDENTIFY 3732 02:17:26,982 --> 02:17:28,383 POTENTIAL NEW COLLABORATIONS, 3733 02:17:28,383 --> 02:17:29,752 RESOURCES, TALKING ABOUT 3734 02:17:29,752 --> 02:17:31,153 BIOBANKS, WHERE THEY CAN GET THE 3735 02:17:31,153 --> 02:17:33,255 CELL LINES, BUILDING ALLIES, AND 3736 02:17:33,255 --> 02:17:34,990 AS I TALKED, IT WAS REALLY AN 3737 02:17:34,990 --> 02:17:36,225 OPPORTUNITY FOR THE YOUNG 3738 02:17:36,225 --> 02:17:38,560 INVESTIGATORS TO IDENTIFY THE 3739 02:17:38,560 --> 02:17:39,762 GAPS AND OPPORTUNITIES IN THE DM 3740 02:17:39,762 --> 02:17:41,463 FIELD SO THEY COULD MOVE THEIR 3741 02:17:41,463 --> 02:17:41,897 RESEARCH FORWARD. 3742 02:17:41,897 --> 02:17:44,500 WE REALLY ALSO WERE STRATEGIC 3743 02:17:44,500 --> 02:17:47,536 ABOUT PAIRING CLINICAL AND BASIC 3744 02:17:47,536 --> 02:17:48,137 RESEARCHERS TOGETHER AND THE 3745 02:17:48,137 --> 02:17:49,037 POSSIBILITY THAT THEY MIGHT WANT 3746 02:17:49,037 --> 02:17:50,773 TO FORM COLLABORATIONS. 3747 02:17:50,773 --> 02:17:53,075 WE ALSO HAD COMMUNITY MEMBERS 3748 02:17:53,075 --> 02:17:55,077 BUILT IN TO THOSE GROUPS WITH 3749 02:17:55,077 --> 02:17:55,811 GROUP LEADERS. 3750 02:17:55,811 --> 02:17:58,347 AND THEN WE TALKED ABOUT NEW 3751 02:17:58,347 --> 02:18:00,215 IDEAS AND OPPORTUNITIES FOR THE 3752 02:18:00,215 --> 02:18:01,216 FIELD TO THINK ABOUT HOW WE 3753 02:18:01,216 --> 02:18:02,918 COULD ALL MOVE FORWARD AND A LOT 3754 02:18:02,918 --> 02:18:04,186 OF THIS WAS DONE, OF COURSE, 3755 02:18:04,186 --> 02:18:05,454 WITH MYOTONIC DYSTROPHY 3756 02:18:05,454 --> 02:18:06,622 FOUNDATION AND OTHERS. 3757 02:18:06,622 --> 02:18:08,524 WE DISCUSSED CAREER 3758 02:18:08,524 --> 02:18:09,992 OPPORTUNITIES ON HOW TO 3759 02:18:09,992 --> 02:18:11,160 INCORPORATE MYOTONIC DYSTROPHY, 3760 02:18:11,160 --> 02:18:13,095 EVEN IN CURRICULUM AS 3761 02:18:13,095 --> 02:18:13,462 PROFESSORS. 3762 02:18:13,462 --> 02:18:15,497 WE TALKED ABOUT PICKING 3763 02:18:15,497 --> 02:18:16,865 OPPORTUNITIES TO TARGET AND 3764 02:18:16,865 --> 02:18:18,167 GETTING FEEDBACK FROM YOUR GROUP 3765 02:18:18,167 --> 02:18:19,701 LEADERS AND SENIOR SCIENTISTS. 3766 02:18:19,701 --> 02:18:21,570 AND THEN, OF COURSE, IT'S ALWAYS 3767 02:18:21,570 --> 02:18:24,273 FUN TO HAVE FUN AS A GROUP AND 3768 02:18:24,273 --> 02:18:24,973 BUILD THOSE PERSONAL 3769 02:18:24,973 --> 02:18:28,277 CONNECTIONS. 3770 02:18:28,277 --> 02:18:30,112 SO JUST A FEW THINGS WE DID A 3771 02:18:30,112 --> 02:18:30,746 LITTLE DIFFERENTLY TOO. 3772 02:18:30,746 --> 02:18:32,581 AGAIN, ALL THE ATTENDEES WERE 3773 02:18:32,581 --> 02:18:33,515 NOMINATED BY SOMEONE IN THE 3774 02:18:33,515 --> 02:18:34,783 FIELD, THEN WE ACTUALLY ASKED 3775 02:18:34,783 --> 02:18:38,420 THEM TO BASICALLY PUT TOGETHER A 3776 02:18:38,420 --> 02:18:39,021 ONE-PAGE DESCRIPTION OF THEIR 3777 02:18:39,021 --> 02:18:40,689 CURRENT RESEARCH, THEIR FUTURE 3778 02:18:40,689 --> 02:18:41,323 CAREER GOALS SO THAT WE COULD 3779 02:18:41,323 --> 02:18:42,524 USE THAT INFORMATION TO BUILD 3780 02:18:42,524 --> 02:18:44,026 THE GROUPS AND HELP THEM BUILD 3781 02:18:44,026 --> 02:18:46,228 CONNECTIONS. 3782 02:18:46,228 --> 02:18:48,597 THE OTHER THING WE DID WITH OUR 3783 02:18:48,597 --> 02:18:49,932 POSTER SESSION IS WE DIDN'T 3784 02:18:49,932 --> 02:18:50,999 ACTUALLY HAVE THEM DO A POSTER 3785 02:18:50,999 --> 02:18:52,367 JUST ON THEIR RESEARCH. 3786 02:18:52,367 --> 02:18:53,802 WE ASKED THEM TO DO A POSTER ON 3787 02:18:53,802 --> 02:18:57,973 THE KEY COMPETENCIES OF THEIR 3788 02:18:57,973 --> 02:18:58,740 LAB OR CLINICAL RESEARCH SO WE 3789 02:18:58,740 --> 02:19:00,509 COULD HAVE THAT PERSON BE A 3790 02:19:00,509 --> 02:19:01,376 REPRESENTATIVE FOR THAT WHOLE 3791 02:19:01,376 --> 02:19:04,513 GROUP AND THEN HOPEFULLY SEE THE 3792 02:19:04,513 --> 02:19:05,747 OPPORTUNITIES SO THAT IT WAS, 3793 02:19:05,747 --> 02:19:08,450 AGAIN, SORT OF BUILDING OUT THE 3794 02:19:08,450 --> 02:19:09,484 INTERACTIONS ACROSS THE FIELD. 3795 02:19:09,484 --> 02:19:12,287 SO THE GOAL WAS TO SIMULATE -- 3796 02:19:12,287 --> 02:19:13,555 STIMULATE DISCUSSION AND PROMOTE 3797 02:19:13,555 --> 02:19:14,723 COLLABORATIONS, AND I KNOW OF 3798 02:19:14,723 --> 02:19:16,024 SEVERAL THAT HAVE STARTED MOVING 3799 02:19:16,024 --> 02:19:16,925 FORWARD IN THIS SPACE, EVEN 3800 02:19:16,925 --> 02:19:18,060 THOUGH THE MEETING JUST HAPPENED 3801 02:19:18,060 --> 02:19:21,363 A FEW MONTHS AGO. 3802 02:19:21,363 --> 02:19:22,965 WE HAD LOTS OF GREAT KEY 3803 02:19:22,965 --> 02:19:25,267 SPEAKERS BUT WE HAD TWO SPECIFIC 3804 02:19:25,267 --> 02:19:26,368 WORKSHOP FACILITATORS, AND ONE 3805 02:19:26,368 --> 02:19:27,870 OF THEM IS ON YOUR COMMITTEE, 3806 02:19:27,870 --> 02:19:29,538 ERIC WANG, WHO TALKED ABOUT DRUG 3807 02:19:29,538 --> 02:19:30,505 DEVELOPMENT FROM CONCEPT TO 3808 02:19:30,505 --> 02:19:30,973 STARTUP. 3809 02:19:30,973 --> 02:19:33,308 SO THOSE ARE THINGS THAT WE 3810 02:19:33,308 --> 02:19:34,776 DON'T ALWAYS -- OUR JUNIOR 3811 02:19:34,776 --> 02:19:35,410 INVESTIGATORS DON'T ALWAYS GET 3812 02:19:35,410 --> 02:19:37,779 TO HEAR ABOUT, IS HOW AS A NEW 3813 02:19:37,779 --> 02:19:39,281 PROFESSOR OR EVEN AS A 3814 02:19:39,281 --> 02:19:40,349 POSTDOCTORAL FELLOW, HOW TO 3815 02:19:40,349 --> 02:19:42,517 THINK ABOUT THAT TRANSITION FROM 3816 02:19:42,517 --> 02:19:46,355 AN IDEA OR REALLY EXCITING DATA 3817 02:19:46,355 --> 02:19:48,090 TO GO TO A STARTUP, SO ERIC DID 3818 02:19:48,090 --> 02:19:49,858 A GREAT JOB SHARING HIS PATH AND 3819 02:19:49,858 --> 02:19:51,426 WAYS TO DO THAT. 3820 02:19:51,426 --> 02:19:54,062 MARIO FROM FRANCE ACTUALLY 3821 02:19:54,062 --> 02:19:55,597 TALKED ABOUT OPPORTUNITIES IN 3822 02:19:55,597 --> 02:19:57,232 THE EUROPEAN UNION AND WAYS TO 3823 02:19:57,232 --> 02:19:58,667 COLLABORATE BETWEEN THE U.S. AND 3824 02:19:58,667 --> 02:20:00,535 EUROPE, AND LOTS OF OTHER 3825 02:20:00,535 --> 02:20:01,503 COLLABORATIONS AND SORT OF 3826 02:20:01,503 --> 02:20:04,006 TALKED ABOUT OPPORTUNITIES AND 3827 02:20:04,006 --> 02:20:05,908 GAPS. 3828 02:20:05,908 --> 02:20:07,743 SO AGAIN ERIC AND MARIO ARE BOTH 3829 02:20:07,743 --> 02:20:08,844 REALLY SUCCESSFUL BUT HAVE 3830 02:20:08,844 --> 02:20:10,279 RECENTLY MADE THE JUMP TO MORE 3831 02:20:10,279 --> 02:20:11,280 SENIOR POSITIONS. 3832 02:20:11,280 --> 02:20:14,683 AND SO SOME OF OUR MORE SENIOR 3833 02:20:14,683 --> 02:20:16,718 FOLKS, MAURY SWANSON WHO'S DONE 3834 02:20:16,718 --> 02:20:18,120 SOME OF THE KEY WORK IN MYOTONIC 3835 02:20:18,120 --> 02:20:20,656 DYSTROPHY, SO HE GAVE US A WHOLE 3836 02:20:20,656 --> 02:20:24,726 HIHISTORY OF THE EARLY WORK IN 3837 02:20:24,726 --> 02:20:26,561 MYOTONIC DYSTROPHY AND REALLY 3838 02:20:26,561 --> 02:20:28,063 FRAMED AND TALKED ABOUT THE 3839 02:20:28,063 --> 02:20:30,032 OPPORTUNITIES. 3840 02:20:30,032 --> 02:20:31,667 ADRIENNE KRAINER TALKED ABOUT 3841 02:20:31,667 --> 02:20:33,869 LESSONS LEARNED FROM OTHER 3842 02:20:33,869 --> 02:20:35,837 THERAPEUTIC PROGRAMS, TOLD US 3843 02:20:35,837 --> 02:20:37,172 ABOUT SPINAL MUSCULAR ATROPHY 3844 02:20:37,172 --> 02:20:38,974 AND SORT OF THE PATH AND SORT OF 3845 02:20:38,974 --> 02:20:39,775 OPPORTUNITIES AND CHALLENGES 3846 02:20:39,775 --> 02:20:41,009 THEY'VE FACED IN THAT FIELD AND 3847 02:20:41,009 --> 02:20:42,244 THINGS WE COULD LEARN. 3848 02:20:42,244 --> 02:20:43,812 AS I SAID, IT WAS GREAT THAT 3849 02:20:43,812 --> 02:20:45,180 ADRIENNE STAYED WITH US FOR THE 3850 02:20:45,180 --> 02:20:46,481 WHOLE MEETING AND REALLY ENGAGED 3851 02:20:46,481 --> 02:20:47,816 IN THE GROUP DISCUSSIONS AND 3852 02:20:47,816 --> 02:20:48,383 THINGS LIKE THAT. 3853 02:20:48,383 --> 02:20:49,952 THEN CHARLES, WHO, YOU KNOW, HAS 3854 02:20:49,952 --> 02:20:51,653 BEEN A LEADER IN THE MYOTONIC 3855 02:20:51,653 --> 02:20:54,156 DYSTROPHY FIELD SINCE THE 3856 02:20:54,156 --> 02:20:56,258 BEGINNING, SHARED HIS WISDOM AND 3857 02:20:56,258 --> 02:20:57,259 TALKED ABOUT ACTUALLY SORT OF 3858 02:20:57,259 --> 02:20:58,360 THINKING ABOUT WHEN THINGS ARE 3859 02:20:58,360 --> 02:20:59,695 APPROVED IN OUR SPACE, SORT OF 3860 02:20:59,695 --> 02:21:04,599 HOW WE NEED TO THINK ABOUT 3861 02:21:04,599 --> 02:21:06,234 INTERACTING CAN THE PEAMS AND 3862 02:21:06,234 --> 02:21:09,972 THE PATIENTS AND SORT OF 3863 02:21:09,972 --> 02:21:10,939 OPPORTUNITIES FOR WHEN HOPEFULLY 3864 02:21:10,939 --> 02:21:12,574 THINGS ARE APPROVED IN THE 3865 02:21:12,574 --> 02:21:14,343 MYOTONIC DYSTROPHY SPACE AND 3866 02:21:14,343 --> 02:21:15,310 PREPARING FOR THOSE 3867 02:21:15,310 --> 02:21:15,777 OPPORTUNITIES AS WELL. 3868 02:21:15,777 --> 02:21:16,845 SO WE HAD LOTS OF BREAKOUT 3869 02:21:16,845 --> 02:21:18,613 SESSIONS BECAUSE WE WANTED TO BE 3870 02:21:18,613 --> 02:21:20,816 A VERY INTERACTIVE -- AS I 3871 02:21:20,816 --> 02:21:22,084 TALKED ABOUT, THE CLINICAL 3872 02:21:22,084 --> 02:21:23,018 DEMONSTRATION I THOUGHT WAS 3873 02:21:23,018 --> 02:21:24,219 GREAT, WE TALKED ABOUT 3874 02:21:24,219 --> 02:21:25,320 MECHANISMS AND MODELS, WE TALKED 3875 02:21:25,320 --> 02:21:26,421 ABOUT CLINICAL DEVELOPMENT, WE 3876 02:21:26,421 --> 02:21:27,823 HAD A LOT OF INDUSTRY ENGAGEMENT 3877 02:21:27,823 --> 02:21:29,191 AND SOME OF THE INDUSTRY 3878 02:21:29,191 --> 02:21:30,392 ENGAGEMENT WAS AROUND 3879 02:21:30,392 --> 02:21:31,860 PROFESSIONAL DEVELOPMENT, HAVING 3880 02:21:31,860 --> 02:21:33,428 THE INDUSTRY FOLKS TALK ABOUT 3881 02:21:33,428 --> 02:21:34,896 THE INDUSTRIES IN INDUSTRY AND 3882 02:21:34,896 --> 02:21:39,868 HOW TO BE SUCCESSFUL COLLABING 3883 02:21:39,868 --> 02:21:40,335 WITH INDUSTRY. 3884 02:21:40,335 --> 02:21:41,837 AGAIN WE DO A LOT OF TRAINING 3885 02:21:41,837 --> 02:21:42,904 WITH GRANT-WRITING BUT WHAT WE 3886 02:21:42,904 --> 02:21:44,573 DON'T ALWAYS DO IS TRAIN OUR 3887 02:21:44,573 --> 02:21:46,708 JUNIOR SCIENTISTS HOW TO 3888 02:21:46,708 --> 02:21:47,309 EFFECTIVELY COLLABORATE WITH 3889 02:21:47,309 --> 02:21:47,943 INDUSTRY, SO WE HAD 3890 02:21:47,943 --> 02:21:50,078 CONVERSATIONS ABOUT THAT. 3891 02:21:50,078 --> 02:21:57,552 AND THEN ALSO THE FUNDERS WERE 3892 02:21:57,552 --> 02:21:59,755 GREAT WITH ENGAGING WITH OUR 3893 02:21:59,755 --> 02:22:00,589 JUNIOR INVESTIGATORS AND HOW TO 3894 02:22:00,589 --> 02:22:01,857 BE SUCCESSFUL. 3895 02:22:01,857 --> 02:22:03,291 I TOLD YOU A LITTLE ABOUT THE 3896 02:22:03,291 --> 02:22:04,626 POSTER SESSION. 3897 02:22:04,626 --> 02:22:06,561 WE BROUGHT IN DM AMBASSADORS WHO 3898 02:22:06,561 --> 02:22:07,763 WOULD ENGAGE WITH ALL OF OUR 3899 02:22:07,763 --> 02:22:09,131 JUNIOR INVESTIGATORS AND TELL 3900 02:22:09,131 --> 02:22:09,998 THEM ABOUT IT. 3901 02:22:09,998 --> 02:22:11,433 THEN LASTLY, I THINK IT'S GREAT 3902 02:22:11,433 --> 02:22:13,268 FOR EVERYONE TO DO ADVOCACY, SO 3903 02:22:13,268 --> 02:22:15,003 WE TALKED ABOUT OPPORTUNITIES IN 3904 02:22:15,003 --> 02:22:16,571 ADVOCACY AND WAYS TO DO THAT AND 3905 02:22:16,571 --> 02:22:19,007 BRAINSTORMED HOW WE CAN DO IT 3906 02:22:19,007 --> 02:22:20,108 TOGETHER. 3907 02:22:20,108 --> 02:22:22,778 SO AS I SAID, WE HAD THE DM 3908 02:22:22,778 --> 02:22:24,679 AMBASSADORS, THEY SHARED THEIR 3909 02:22:24,679 --> 02:22:29,284 STORIES, THEY WERE GREAT ABOUT 3910 02:22:29,284 --> 02:22:30,419 TELLING THE YOUNG INVESTIGATORS 3911 02:22:30,419 --> 02:22:35,791 SORT OF HOW THEY'VE DEALT WITH 3912 02:22:35,791 --> 02:22:36,591 MYOTONIC DYSTROPHY, SORT OF 3913 02:22:36,591 --> 02:22:37,893 THEIR HOPES AND DREAMS. 3914 02:22:37,893 --> 02:22:39,728 WE AGAIN ASKED THE DM 3915 02:22:39,728 --> 02:22:41,830 AMBASSADORS TO WRITE UP ONE OR 3916 02:22:41,830 --> 02:22:43,131 EVEN MULTIPAGE STORIES, SO THIS 3917 02:22:43,131 --> 02:22:44,299 IS ALL MATERIAL THAT WAS SHARED 3918 02:22:44,299 --> 02:22:45,700 WITH EACH OTHER SO THAT WE COULD 3919 02:22:45,700 --> 02:22:50,772 ALL LEARN FROM EACH OTHER. 3920 02:22:50,772 --> 02:22:51,873 IN THE HANDBOOK. 3921 02:22:51,873 --> 02:22:53,341 AS I SAID THAT CLINICAL 3922 02:22:53,341 --> 02:22:59,948 ASSESSMENT WAS GREAT BY MARK 3923 02:22:59,948 --> 02:23:01,583 PLONCO AND -- SAMPSON FROM 3924 02:23:01,583 --> 02:23:02,717 STANFORD. 3925 02:23:02,717 --> 02:23:03,318 SO LOOKING FORWARD WHAT WE'RE 3926 02:23:03,318 --> 02:23:05,320 HOPING TO SEE AND WE EXPECT TO 3927 02:23:05,320 --> 02:23:06,688 SEE IS AN INCREASE IN THE NUMBER 3928 02:23:06,688 --> 02:23:10,792 OF PROPOSALS TO NIH, DOD, NSF 3929 02:23:10,792 --> 02:23:11,726 SORT OF OPPORTUNITIES OUT THERE, 3930 02:23:11,726 --> 02:23:14,729 WE WANT TO MAINTAIN/RETAIN OUR 3931 02:23:14,729 --> 02:23:15,764 GRADUATE STUDENTS AND 3932 02:23:15,764 --> 02:23:16,865 POSTDOCTORAL FELLOWS IN THE DM 3933 02:23:16,865 --> 02:23:18,100 FIELD AND HELP THEM BE 3934 02:23:18,100 --> 02:23:18,467 SUCCESSFUL. 3935 02:23:18,467 --> 02:23:19,901 AND THEN BUILDING AWARENESS WITH 3936 02:23:19,901 --> 02:23:21,136 THE PHYSICIANS AND EXPERIENCE IN 3937 02:23:21,136 --> 02:23:23,238 THE DM CARE AND TREATMENT, AND 3938 02:23:23,238 --> 02:23:25,040 THEN MORE BUILDOUT WITH EARLY 3939 02:23:25,040 --> 02:23:25,874 STAGE CLINICAL TRIALS AND 3940 02:23:25,874 --> 02:23:28,376 STARTUPS FOCUSED ON MYOTONIC 3941 02:23:28,376 --> 02:23:31,346 DYSTROPHY. 3942 02:23:31,346 --> 02:23:33,248 WE'RE EXCITED TO SEE MORE 3943 02:23:33,248 --> 02:23:34,449 COLLABORATIONS AMONGST THE 3944 02:23:34,449 --> 02:23:35,350 JUNIOR INVESTIGATORS AND WITH 3945 02:23:35,350 --> 02:23:39,287 THE GROUP LEADERS AND EXPERTS TO 3946 02:23:39,287 --> 02:23:40,055 REVIEW THEIR PROPOSALS. 3947 02:23:40,055 --> 02:23:41,556 WE'RE ENCOURAGING THEM TO SEND 3948 02:23:41,556 --> 02:23:43,191 THEIR PROPOSALS TO THE GROUP 3949 02:23:43,191 --> 02:23:48,130 LEADERS, TO THE EXPERTS, TO GET 3950 02:23:48,130 --> 02:23:49,931 ADVICE BEFORE THEY SUBMIT THEIR 3951 02:23:49,931 --> 02:23:50,966 PROPOSALS SO THEY CAN BE MORE 3952 02:23:50,966 --> 02:23:51,333 COMPETITIVE. 3953 02:23:51,333 --> 02:23:52,534 WE TALKED ABOUT THE INTERACTION 3954 02:23:52,534 --> 02:23:54,069 BETWEEN THE AMBASSADORS, THE 3955 02:23:54,069 --> 02:23:55,637 FAMILIES WITH THE COMMUNITY, AND 3956 02:23:55,637 --> 02:23:57,172 THEN THINKING ABOUT THE 3957 02:23:57,172 --> 02:23:58,540 DIVERSITY IN RESEARCH 3958 02:23:58,540 --> 02:23:59,641 APPROACHES, DIVERSITY IN 3959 02:23:59,641 --> 02:24:01,510 TRAINEES, THAT'S AN AREA WE CAN 3960 02:24:01,510 --> 02:24:03,378 CONTINUE TO IMPROVE IN, AND 3961 02:24:03,378 --> 02:24:04,246 DIVERSITY IN CLINICAL TRIAL 3962 02:24:04,246 --> 02:24:05,180 PARTICIPANTS AS WELL, THAT CAME 3963 02:24:05,180 --> 02:24:05,680 UP. 3964 02:24:05,680 --> 02:24:07,649 SO WE'RE GOING TO BE WRITING UP 3965 02:24:07,649 --> 02:24:10,018 A PUBLICATION ON THIS MEETING, 3966 02:24:10,018 --> 02:24:11,419 TALKING ABOUT THE OUTCOMES AND 3967 02:24:11,419 --> 02:24:11,653 LESSONS. 3968 02:24:11,653 --> 02:24:13,822 AND THEN THINKING ABOUT SORT OF 3969 02:24:13,822 --> 02:24:16,625 HOW TO BUILD ON THIS AT MDF 3970 02:24:16,625 --> 02:24:17,893 MEETINGS, IDMC MEETINGS AND 3971 02:24:17,893 --> 02:24:18,360 THINGS LIKE THAT. 3972 02:24:18,360 --> 02:24:19,327 AND WITH THAT, I'LL TAKE 3973 02:24:19,327 --> 02:24:19,694 QUESTIONS. 3974 02:24:19,694 --> 02:24:28,737 THANK YOU. 3975 02:24:28,737 --> 02:24:30,338 >> CAN WE TAKE THE SLIDES DOWN, 3976 02:24:30,338 --> 02:24:31,740 PLEASE, SO WE CAN SEE? 3977 02:24:31,740 --> 02:24:32,374 THANK YOU. 3978 02:24:32,374 --> 02:24:33,208 >> SORRY ABOUT THAT. 3979 02:24:33,208 --> 02:24:34,743 >> ALL RIGHT. 3980 02:24:34,743 --> 02:24:36,645 DR. CRISWELL HAS A QUESTION. 3981 02:24:36,645 --> 02:24:38,113 >> IT'S ANOTHER COMMENT. 3982 02:24:38,113 --> 02:24:41,716 I REALLY APPLAUD ALL OF THE 3983 02:24:41,716 --> 02:24:44,653 CREATIVITY YOU APPLIED TO 3984 02:24:44,653 --> 02:24:45,554 MEETING WITH THESE YOUNG 3985 02:24:45,554 --> 02:24:46,021 INVESTIGATORS. 3986 02:24:46,021 --> 02:24:47,022 I'M ALREADY TAKING NOTES FOR 3987 02:24:47,022 --> 02:24:48,423 SOME IDEAS TO BRING BACK TO OUR 3988 02:24:48,423 --> 02:24:49,090 INSTITUTE. 3989 02:24:49,090 --> 02:24:49,724 THANK YOU VERY MUCH FOR SHARING 3990 02:24:49,724 --> 02:24:49,925 THAT. 3991 02:24:49,925 --> 02:24:51,126 SOUNDS LIKE A FANTASTIC 3992 02:24:51,126 --> 02:24:52,093 OPPORTUNITY. 3993 02:24:52,093 --> 02:24:54,462 >> THANKS, DR. CRISWELL. 3994 02:24:54,462 --> 02:24:56,565 >> YES, I WOULD AGREE. 3995 02:24:56,565 --> 02:24:59,267 I THINK THESE KINDS OF MEETINGS 3996 02:24:59,267 --> 02:24:59,868 ARE TRANSFORMATIVE. 3997 02:24:59,868 --> 02:25:03,104 I MEAN, BRINGING IN THE PATIENTS 3998 02:25:03,104 --> 02:25:05,073 WITH LIVED EXPERIENCE AND THEN 3999 02:25:05,073 --> 02:25:07,542 ALSO THE YOUNG INVESTIGATORS, 4000 02:25:07,542 --> 02:25:15,383 THEY FORM A NETWORK AS WELL. 4001 02:25:15,383 --> 02:25:17,419 IT'S ALSO IN A BEAUTIFUL 4002 02:25:17,419 --> 02:25:18,053 SURROUNDING. 4003 02:25:18,053 --> 02:25:19,321 IT'S QUITE MEMORABLE, LEAVES A 4004 02:25:19,321 --> 02:25:20,789 LASTING IMPRESSION AND REALLY 4005 02:25:20,789 --> 02:25:21,389 INSPIRES THE YOUNG 4006 02:25:21,389 --> 02:25:22,224 INVESTIGATORS. 4007 02:25:22,224 --> 02:25:23,024 SO CONGRATULATIONS. 4008 02:25:23,024 --> 02:25:28,663 ANY OTHER QUESTIONS? 4009 02:25:28,663 --> 02:25:30,365 >> WE'RE LUCKY, THE FOUNDATION 4010 02:25:30,365 --> 02:25:31,700 WE WORKED WITH REALLY WANTS TO 4011 02:25:31,700 --> 02:25:33,201 WOULD YOU AND DAZZLE THE YOUNG 4012 02:25:33,201 --> 02:25:35,003 INVESTIGATORS AS A WAY TO REALLY 4013 02:25:35,003 --> 02:25:35,937 KEEP THEM IN THE FIELD. 4014 02:25:35,937 --> 02:25:37,472 >> I PARTICIPATED REMOTELY. 4015 02:25:37,472 --> 02:25:39,274 IT WAS A VERY NICE CONFERENCE 4016 02:25:39,274 --> 02:25:40,642 SITE, BUT I DIDN'T GET A CHANCE 4017 02:25:40,642 --> 02:25:42,077 TO VISIT. 4018 02:25:42,077 --> 02:25:46,414 >> NEXT TIME, GLEN. 4019 02:25:46,414 --> 02:25:48,350 >> AND THERE'S A COMMENT IN THE 4020 02:25:48,350 --> 02:25:49,050 CHAT BOX. 4021 02:25:49,050 --> 02:25:50,318 ERIC, DO YOU WANT TO JUST COME 4022 02:25:50,318 --> 02:25:52,854 OFF MUTE BRIEFLY AND SHARE THAT? 4023 02:25:52,854 --> 02:25:55,991 >> YEAH, I THINK I JUST SORT OF 4024 02:25:55,991 --> 02:25:58,393 APPLAUD ANDY FOR -- I MEAN, I 4025 02:25:58,393 --> 02:25:59,861 THINK ANDY REALLY SPEARHEADED A 4026 02:25:59,861 --> 02:26:01,563 LOT OF THIS AND IT JUST EMBODIES 4027 02:26:01,563 --> 02:26:02,597 HOW MUCH THE LEADERS IN THE 4028 02:26:02,597 --> 02:26:03,865 FIELD CARE ABOUT SUPPORTING THE 4029 02:26:03,865 --> 02:26:06,101 NEXT GENERATION OF RESEARCHERS. 4030 02:26:06,101 --> 02:26:07,636 VERY IMPORTANT TO ENSURE 4031 02:26:07,636 --> 02:26:09,704 LONGEVITY OF THESE COMMUNITIES, 4032 02:26:09,704 --> 02:26:11,539 AND THAT THERE'S GOING TO BE A 4033 02:26:11,539 --> 02:26:13,475 LOT MORE WORK TO DO EVEN AFTER 4034 02:26:13,475 --> 02:26:15,243 THERE ARE APPROVED THERAPIES, SO 4035 02:26:15,243 --> 02:26:20,282 THE JOURNEY DOESN'T END. 4036 02:26:20,282 --> 02:26:21,049 >> GREAT. 4037 02:26:21,049 --> 02:26:22,017 OKAY, MOVING ALONG. 4038 02:26:22,017 --> 02:26:24,152 NEXT WE'RE GOING TO HAVE A 4039 02:26:24,152 --> 02:26:27,155 MEETING REPORT FROM MS. KATHRYN 4040 02:26:27,155 --> 02:26:28,156 BRYANT OF THE SPEAK FOUNDATION 4041 02:26:28,156 --> 02:26:30,058 AND DR. BRAD WILLIAMS OF THE 4042 02:26:30,058 --> 02:26:32,627 JAIN FOUNDATION ON THE 4043 02:26:32,627 --> 02:26:34,029 LIMB-GIRDLE MUSCULAR DYSTROPHY 4044 02:26:34,029 --> 02:26:36,831 INTERNATIONAL CONFERENCE. 4045 02:26:36,831 --> 02:26:37,699 WHICH WAS HELD IN 4046 02:26:37,699 --> 02:26:39,367 WASHINGTON, D.C. 4047 02:26:39,367 --> 02:26:40,168 >> YES. 4048 02:26:40,168 --> 02:26:40,869 THANK YOU. 4049 02:26:40,869 --> 02:26:43,571 THANKS FOR INVITING US. 4050 02:26:43,571 --> 02:26:45,240 IT'S A PLEASURE TO BE HERE, AND 4051 02:26:45,240 --> 02:26:48,376 BRAD AND I ARE BOTH LIVING WITH 4052 02:26:48,376 --> 02:26:50,545 LIMB-GIRDLE MUSCULAR DYSTROPHY. 4053 02:26:50,545 --> 02:26:57,652 I HAVE LGMD 2I AND BRAD HAS -- 4054 02:26:57,652 --> 02:27:00,455 BOTH OF US ARE INDIVIDUALS THAT 4055 02:27:00,455 --> 02:27:02,023 ARE AFFECTED, AND THIS 4056 02:27:02,023 --> 02:27:03,291 CONFERENCE WAS ORGANIZED BY 4057 02:27:03,291 --> 02:27:04,426 PATIENTS, AND THINK THAT'S WHAT 4058 02:27:04,426 --> 02:27:08,430 MAKES IT VERY UNIQUE, IS WE 4059 02:27:08,430 --> 02:27:09,531 BASICALLY ORGANIZED THIS 4060 02:27:09,531 --> 02:27:11,032 OURSELVES, AND THIS IS OUR THIRD 4061 02:27:11,032 --> 02:27:13,835 EVENT THAT WE'VE ORGANIZED. 4062 02:27:13,835 --> 02:27:17,272 SO I'M EXCITED TO SHARE TODAY 4063 02:27:17,272 --> 02:27:17,839 MORE ABOUT IT. 4064 02:27:17,839 --> 02:27:20,575 AT THE INTERNATIONAL LGMD 4065 02:27:20,575 --> 02:27:22,610 CONFERENCE, WE BROUGHT TOGETHER 4066 02:27:22,610 --> 02:27:24,512 EVERYONE WITH THE PURPOSE OF 4067 02:27:24,512 --> 02:27:24,913 EDUCATING. 4068 02:27:24,913 --> 02:27:26,648 WE WANT TO EDUCATE OUR PATIENTS, 4069 02:27:26,648 --> 02:27:30,719 OUR CAREGIVERS, BUT ALSO BRING 4070 02:27:30,719 --> 02:27:33,254 ALL OF THE SCIENTISTS TOGETHER 4071 02:27:33,254 --> 02:27:36,791 IN ONE AREA WITH INDUSTRY 4072 02:27:36,791 --> 02:27:37,392 REGULATORS AND HAVE EVERYONE 4073 02:27:37,392 --> 02:27:41,663 TOGETHER TO HEAR FROM EACH, 4074 02:27:41,663 --> 02:27:43,198 THEIR EXPERTISE. 4075 02:27:43,198 --> 02:27:44,532 WE WANT OUR TARGET AUDIENCE TO 4076 02:27:44,532 --> 02:27:45,934 ALWAYS BE OUR PATIENTS AND 4077 02:27:45,934 --> 02:27:48,436 FAMILY MEMBERS AND CAREGIVERS, 4078 02:27:48,436 --> 02:27:52,006 BECAUSE IN OUR AREA, LIMB-GIRDLE 4079 02:27:52,006 --> 02:27:53,842 IS SOMETHING THAT IS SO DIVERSE, 4080 02:27:53,842 --> 02:27:57,112 AND WE HAVE OVER 30 SUBTYPES 4081 02:27:57,112 --> 02:27:58,613 PLUS, SO THERE'S A LOT OF 4082 02:27:58,613 --> 02:27:59,347 DIFFERENT SUBTYPES AND PATIENTS 4083 02:27:59,347 --> 02:28:04,386 HAVE A LOT OF QUESTIONS, SO IT'S 4084 02:28:04,386 --> 02:28:05,453 IMPORTANT FOR OUR PATIENTS TO BE 4085 02:28:05,453 --> 02:28:06,121 ABLE TO COME. 4086 02:28:06,121 --> 02:28:07,021 WE REPRESENTED A LOT OF 4087 02:28:07,021 --> 02:28:08,523 DIFFERENT COUNTRIES, SO IT WAS 4088 02:28:08,523 --> 02:28:09,457 AN INTERNATIONAL EVENT, SO WE 4089 02:28:09,457 --> 02:28:11,826 HAD PATIENTS COMING FROM 4090 02:28:11,826 --> 02:28:12,627 COUNTRIES WHERE THEY REALLY 4091 02:28:12,627 --> 02:28:17,198 DON'T HAVE A LOT OF MEDICAL 4092 02:28:17,198 --> 02:28:18,500 CARE, AND THIS WAS AN EXCITING 4093 02:28:18,500 --> 02:28:20,635 TIME FOR THEM BECAUSE THEY GOT 4094 02:28:20,635 --> 02:28:22,904 TO MEET A LOT OF THE DOCTORS 4095 02:28:22,904 --> 02:28:23,838 THAT THEY HEAR ABOUT. 4096 02:28:23,838 --> 02:28:27,709 WE HAD CLINICIANS, ADVOCACY 4097 02:28:27,709 --> 02:28:29,010 ORGANIZATIONS, PHARMA, 4098 02:28:29,010 --> 02:28:31,613 RESEARCHERS, AND OUR MAJOR 4099 02:28:31,613 --> 02:28:34,315 THEMES WERE LGMD DIAGNOSIS AND 4100 02:28:34,315 --> 02:28:35,016 DISEASE MANAGEMENT. 4101 02:28:35,016 --> 02:28:36,718 WE HAD DRUG DEVELOPMENT, 4102 02:28:36,718 --> 02:28:37,585 CLINICAL STUDIES AND CLINICAL 4103 02:28:37,585 --> 02:28:38,286 TRIAL SESSIONS. 4104 02:28:38,286 --> 02:28:40,054 LIFE HACKS FOR LIVING WITH LGMD, 4105 02:28:40,054 --> 02:28:41,723 AND MAKING CONNECTIONS WITH 4106 02:28:41,723 --> 02:28:42,757 FELLOW COMMUNITY MEMBERS. 4107 02:28:42,757 --> 02:28:44,893 I WOULD SAY THAT THIS CONFERENCE 4108 02:28:44,893 --> 02:28:47,228 WOULDN'T NECESSARILY BE A 4109 02:28:47,228 --> 02:28:48,496 SCIENTIFIC CONFERENCE, BUT IT'S 4110 02:28:48,496 --> 02:28:50,465 PROBABLY AN INTERSECTION BETWEEN 4111 02:28:50,465 --> 02:28:52,634 A SCIENTIFIC CONFERENCE AND A 4112 02:28:52,634 --> 02:28:54,002 PATIENT CONFERENCE. 4113 02:28:54,002 --> 02:28:56,771 AND WE KIND OF DO BOTH OF THOSE 4114 02:28:56,771 --> 02:28:58,506 THINGS. 4115 02:28:58,506 --> 02:28:59,974 SO THAT EVERYONE'S NEEDS ARE 4116 02:28:59,974 --> 02:29:00,308 MET. 4117 02:29:00,308 --> 02:29:02,043 YOU'LL SEE PHOTOS THROUGHOUT 4118 02:29:02,043 --> 02:29:03,611 THIS PRESENTATION AS WELL. 4119 02:29:03,611 --> 02:29:05,480 SO THIS WAS OUR THIRD CONFERENCE 4120 02:29:05,480 --> 02:29:07,615 LAKE I MENTIONED. 4121 02:29:07,615 --> 02:29:08,950 LIKE I MENTIONED. 4122 02:29:08,950 --> 02:29:10,218 IN 2019, WE HAD OUR FIRST ONE IN 4123 02:29:10,218 --> 02:29:11,820 CHICAGO AND WE HAD 400 IN 4124 02:29:11,820 --> 02:29:12,587 ATTENDANCE. 4125 02:29:12,587 --> 02:29:13,688 AGAIN, THIS WAS ACTUALLY 4126 02:29:13,688 --> 02:29:17,292 ORGANIZED BY THREE PATIENTS WITH 4127 02:29:17,292 --> 02:29:18,593 LGMD. 4128 02:29:18,593 --> 02:29:19,727 MYSELF, I'M THE CONFERENCE ADD 4129 02:29:19,727 --> 02:29:22,764 STRAY, TO BRAD WILLIAMS, AND 4130 02:29:22,764 --> 02:29:23,798 CAROL ABRAHAM. 4131 02:29:23,798 --> 02:29:25,800 AND WE BASICALLY DID ALL THIS 4132 02:29:25,800 --> 02:29:30,905 HARD WORK IN 2019, AND IT REALLY 4133 02:29:30,905 --> 02:29:33,441 WENT OVER JUST SO WELL. 4134 02:29:33,441 --> 02:29:35,343 THEN IN 2021, WE HAD A VIRTUAL 4135 02:29:35,343 --> 02:29:38,546 EVENT, AND WE HAD ABOUT 1700 4136 02:29:38,546 --> 02:29:38,847 ATTEND. 4137 02:29:38,847 --> 02:29:41,549 AND THEN THIS YEAR, WE DID OUR 4138 02:29:41,549 --> 02:29:42,450 2023 CONFERENCE THAT I'M TALKING 4139 02:29:42,450 --> 02:29:44,052 ABOUT RIGHT NOW, AND IT WAS 4140 02:29:44,052 --> 02:29:46,020 HYBRID WITH A VIRTUAL AND AN 4141 02:29:46,020 --> 02:29:46,754 IN-PERSON. 4142 02:29:46,754 --> 02:29:48,890 WE HAD 700 REGISTRANTS, ABOUT 4143 02:29:48,890 --> 02:29:51,493 HALF IN PERSON AND HALF 4144 02:29:51,493 --> 02:29:52,794 VIRTUALLY, AND WE HAD 16 4145 02:29:52,794 --> 02:29:57,232 COUNTRIES REPRESENTED. 4146 02:29:57,232 --> 02:29:59,501 WHAT'S VERY UNIQUE AS WELL AS I 4147 02:29:59,501 --> 02:30:01,269 MENTIONED, WE HAD THIS MANY 4148 02:30:01,269 --> 02:30:03,204 PARTICIPATING ADVOCACY 4149 02:30:03,204 --> 02:30:05,173 ORGANIZATIONS IN THE LIMB-GIRDLE 4150 02:30:05,173 --> 02:30:05,440 SPACE. 4151 02:30:05,440 --> 02:30:06,808 I THINK WHAT MAKES LIMB-GIRDLE 4152 02:30:06,808 --> 02:30:09,711 VERY UNIQUE IS THE DIFFERENT 4153 02:30:09,711 --> 02:30:12,347 SUBTYPES, BUT THE RA CAMARADERIE 4154 02:30:12,347 --> 02:30:14,148 AND THE UNITY THAT WE HAVE 4155 02:30:14,148 --> 02:30:15,550 AMONGST ALL THE ORGANIZATIONS. 4156 02:30:15,550 --> 02:30:18,887 AND SO WE ALL WORKED TOGETHER ON 4157 02:30:18,887 --> 02:30:20,421 THIS CONFERENCE, AND ALL OF 4158 02:30:20,421 --> 02:30:22,924 THESE FOUNDATIONS HELPED, THEY 4159 02:30:22,924 --> 02:30:24,893 VOLUNTEERED, THEY SPONSORED, AND 4160 02:30:24,893 --> 02:30:26,594 WE COULDN'T HAVE DONE THIS 4161 02:30:26,594 --> 02:30:28,563 WITHOUT ALL OF THESE 4162 02:30:28,563 --> 02:30:29,497 PARTICIPANTS. 4163 02:30:29,497 --> 02:30:30,765 AND WHEN YOU LOOK AT ALL OF 4164 02:30:30,765 --> 02:30:34,035 THESE ORGANIZATIONS THAT FUND 4165 02:30:34,035 --> 02:30:36,838 RESEARCH FOR LGMD, IT'S IN THE 4166 02:30:36,838 --> 02:30:38,373 MULTI-, MULTI-, MULTIMILLIONS OF 4167 02:30:38,373 --> 02:30:40,375 DOLLARS WHEN YOU LOOK AT THE 4168 02:30:40,375 --> 02:30:42,977 CUMULATIVE EFFECT. 4169 02:30:42,977 --> 02:30:44,946 AND THEN WE ALSO HAD A BANQUET 4170 02:30:44,946 --> 02:30:48,883 AND KEYNOTE AWARD AND SOME 4171 02:30:48,883 --> 02:30:49,884 WONDERFUL STORIES. 4172 02:30:49,884 --> 02:30:51,185 OUR CLINICIAN OF THE YEAR WENT 4173 02:30:51,185 --> 02:30:55,056 TO DR. JERRY MENDELL OF 4174 02:30:55,056 --> 02:30:57,525 NATIONWIDE CHILDREN'S CHILDREN'. 4175 02:30:57,525 --> 02:30:59,060 WE ALSO WERE ABLE TO SHARE TWO 4176 02:30:59,060 --> 02:31:01,262 VIDEOS WHERE PARENTS OF 4177 02:31:01,262 --> 02:31:02,497 PEDIATRIC LGMD PATIENTS SHARED 4178 02:31:02,497 --> 02:31:04,032 ABOUT WHAT IT'S LIKE TO HAVE 4179 02:31:04,032 --> 02:31:06,167 CHILDREN WITH LGMD AND THE 4180 02:31:06,167 --> 02:31:09,904 SYMPTOMS THAT THEIR CHILDREN 4181 02:31:09,904 --> 02:31:11,039 EXPERIENCED EARLY ON. 4182 02:31:11,039 --> 02:31:12,907 AND THEN WE HAD FIVE PATIENT 4183 02:31:12,907 --> 02:31:15,343 WITH VARIOUS LGMD SUBTYPES SHARE 4184 02:31:15,343 --> 02:31:18,413 WHAT IT'S LIKE FOR THEM AS 4185 02:31:18,413 --> 02:31:18,813 ADULTS. 4186 02:31:18,813 --> 02:31:21,049 AND THAT WAS A VERY UNIQUE 4187 02:31:21,049 --> 02:31:22,951 EXPERIENCE FOR PEOPLE TO HEAR 4188 02:31:22,951 --> 02:31:24,185 WHAT THAT'S LIKE. 4189 02:31:24,185 --> 02:31:26,788 AND THEN DR. PETER MARKS, 4190 02:31:26,788 --> 02:31:29,424 DIRECTOR OF CBER, SPOKE WITH OUR 4191 02:31:29,424 --> 02:31:31,159 ENTIRE GROUP, AND THERE WAS A 4192 02:31:31,159 --> 02:31:32,760 FIRE SIDE CHAT AND THAT WAS VERY 4193 02:31:32,760 --> 02:31:33,895 FASCINATING, WHERE WE WERE ABLE 4194 02:31:33,895 --> 02:31:37,365 TO ASK QUESTIONS ABOUT DRUG 4195 02:31:37,365 --> 02:31:39,067 DEVELOPMENT. 4196 02:31:39,067 --> 02:31:40,802 WE JUST REALLY HAD A GREAT TIME 4197 02:31:40,802 --> 02:31:42,337 AS THIS CONFERENCE AND PATIENTS 4198 02:31:42,337 --> 02:31:43,838 WERE REALLY GRATEFUL AND SAID 4199 02:31:43,838 --> 02:31:49,944 THAT IT WAS SO HELPFUL TO THEM. 4200 02:31:49,944 --> 02:31:51,379 OUR COMMUNITY, TO BE ABLE TO 4201 02:31:51,379 --> 02:31:52,280 MEET ONE ANOTHER IN PERSON AND 4202 02:31:52,280 --> 02:31:53,314 BUILD THOSE CONNECTIONS. 4203 02:31:53,314 --> 02:31:55,083 IT'S VERY LIFE-CHANGING FOR SO 4204 02:31:55,083 --> 02:32:00,555 MANY. 4205 02:32:00,555 --> 02:32:01,889 I'M GOING TO BRING BRAD ON RIGHT 4206 02:32:01,889 --> 02:32:03,191 NOW, AND HE'S GOING TO BE 4207 02:32:03,191 --> 02:32:04,292 SHARING ABOUT WHAT OUR CLINICAL 4208 02:32:04,292 --> 02:32:09,097 SESSIONS WERE LIKE. 4209 02:32:09,097 --> 02:32:11,933 >> THANK YOU, KATHRYN. 4210 02:32:11,933 --> 02:32:18,272 IF YOU COULD ADVANCE THE SLADE. 4211 02:32:18,272 --> 02:32:24,912 SO WE TOOK ADVANTAGE OF BEING IN 4212 02:32:24,912 --> 02:32:27,048 D.C. TO HAVE NOT ONLY DR. MARKS 4213 02:32:27,048 --> 02:32:31,919 OF FDA BUT ALSO THREE PRESENTERS 4214 02:32:31,919 --> 02:32:33,087 FROM NIH. 4215 02:32:33,087 --> 02:32:36,958 ONE OF WHOM IS GLEN NUCKOLLS. 4216 02:32:36,958 --> 02:32:39,494 THANK YOU VERY MUCH FOR 4217 02:32:39,494 --> 02:32:40,061 PARTICIPATING, GLEN. 4218 02:32:40,061 --> 02:32:45,433 AND HE TALKED ABOUT THE MDCC, 4219 02:32:45,433 --> 02:32:53,207 WHAT IT DOES AND ALSO ABOUT 4220 02:32:53,207 --> 02:32:54,509 NIH'S RESEARCH SUPPORT FOR 4221 02:32:54,509 --> 02:32:56,878 RESEARCH THAT'S RELEVANT FOR 4222 02:32:56,878 --> 02:32:58,646 DEVELOPING BETTER DISEASE 4223 02:32:58,646 --> 02:33:00,782 UNDERSTANDING AND TREATMENTS FOR 4224 02:33:00,782 --> 02:33:01,983 LGMDs. 4225 02:33:01,983 --> 02:33:07,121 WE ALSO HAD P.J. BROOKS, WHO 4226 02:33:07,121 --> 02:33:09,757 SPOKE ABOUT THE BESPOKE GENE 4227 02:33:09,757 --> 02:33:11,526 THERAPY INITIATIVE. 4228 02:33:11,526 --> 02:33:12,927 SINCE LGMD HAS MANY SUBTYPES, 4229 02:33:12,927 --> 02:33:15,730 MANY OF WHICH HAVE VERY SMALL 4230 02:33:15,730 --> 02:33:19,834 PATIENT POPULATIONS, THIS 4231 02:33:19,834 --> 02:33:22,136 INITIATIVE IS POTENTIALLY VERY 4232 02:33:22,136 --> 02:33:25,306 IMPORTANT FOR THE LGMD SPACE TO 4233 02:33:25,306 --> 02:33:28,710 MAKE THOSE SUBTYPES WHICH HAVE 4234 02:33:28,710 --> 02:33:32,980 FEWER PATIENTS ABLE TO BENEFIT 4235 02:33:32,980 --> 02:33:35,583 FROM THE GENE THERAPY AS IT'S 4236 02:33:35,583 --> 02:33:35,883 DEVELOPED. 4237 02:33:35,883 --> 02:33:42,824 AND WE ALSO HAD SANDRA 4238 02:33:42,824 --> 02:33:44,926 DONKERVOORH WHO WORKS WITH 4239 02:33:44,926 --> 02:33:49,464 CARSTEN BONNEMANN TALK ABOUT 4240 02:33:49,464 --> 02:33:52,400 THAT PROGRAM AND SOME OF THE 4241 02:33:52,400 --> 02:33:55,203 RECENT DISCOVERIES BOTH IN NEW 4242 02:33:55,203 --> 02:33:57,805 LGMD SUBTYPES AS WELL AS 4243 02:33:57,805 --> 02:34:00,108 DIFFERENTIAL DIAGNOSES THAT CAN 4244 02:34:00,108 --> 02:34:08,282 MIMIC LGMDs. 4245 02:34:08,282 --> 02:34:09,617 SO SINCE A LOT OF THE CONFERENCE 4246 02:34:09,617 --> 02:34:12,220 WAS EDUCATING PATIENTS ABOUT 4247 02:34:12,220 --> 02:34:14,455 RESEARCH AND CLINICAL TRIALS, 4248 02:34:14,455 --> 02:34:19,193 CLINICAL STUDIES, A LOT OF THE 4249 02:34:19,193 --> 02:34:20,928 PRESENTERS WERE CLINICIANS 4250 02:34:20,928 --> 02:34:24,031 REPRESENTING A LARMI LARGE NUMBF 4251 02:34:24,031 --> 02:34:25,767 MEDICAL SPECIALTIES, NOT ONLY 4252 02:34:25,767 --> 02:34:29,103 NEUROLOGY AND PHYSICAL THERAPY, 4253 02:34:29,103 --> 02:34:32,874 BUT ALSO CARDIOLOGY, 4254 02:34:32,874 --> 02:34:34,809 PULMONOLOGY, AND RESPIRATORY 4255 02:34:34,809 --> 02:34:36,677 THERAPY. 4256 02:34:36,677 --> 02:34:41,149 WE HAD SEVERAL DRUG DEVELOPERS 4257 02:34:41,149 --> 02:34:45,186 PRESENT ON THEIR CURRENT DRUG 4258 02:34:45,186 --> 02:34:46,854 DEVELOPMENT PATHWAYS AND 4259 02:34:46,854 --> 02:34:49,891 CLINICAL TRIALS. 4260 02:34:49,891 --> 02:34:51,859 WE ALSO TOOK ADVANTAGE, AGAIN, 4261 02:34:51,859 --> 02:34:56,230 OF BEING IN D.C. TO TALK ABOUT 4262 02:34:56,230 --> 02:34:56,564 ADVOCACY. 4263 02:34:56,564 --> 02:35:01,202 WE WERE THANKFUL TO HAVE PAUL 4264 02:35:01,202 --> 02:35:04,205 MELMEYER OF MDA SPEAK ABOUT SOME 4265 02:35:04,205 --> 02:35:08,376 OF THEIR ADVOCACY PROGRAMS, AS 4266 02:35:08,376 --> 02:35:12,213 WELL AS THE EVERYLIFE 4267 02:35:12,213 --> 02:35:13,414 FOUNDATION. 4268 02:35:13,414 --> 02:35:18,052 AND IN ADDITION, WE TALKED ABOUT 4269 02:35:18,052 --> 02:35:19,821 SOME OF THE ADVOCACY THAT THE 4270 02:35:19,821 --> 02:35:25,226 LGMD SPACE HAS BEEN PURSUING 4271 02:35:25,226 --> 02:35:26,394 REACHING OUT TO FDA. 4272 02:35:26,394 --> 02:35:29,964 I ALSO WANT TO MENTION THAT 14 4273 02:35:29,964 --> 02:35:32,567 OF THE -- EITHER THE PRESENTERS 4274 02:35:32,567 --> 02:35:35,436 OR THE SESSION HOSTS ARE PEOPLE 4275 02:35:35,436 --> 02:35:38,139 LIVING WITH LGMD, AND THAT'S IN 4276 02:35:38,139 --> 02:35:40,508 A VARIETY OF ROLES AS 4277 02:35:40,508 --> 02:35:45,246 RESEARCHERS, AS CLINICIANS, AS 4278 02:35:45,246 --> 02:35:46,113 MEMBERS OF ADVOCACY 4279 02:35:46,113 --> 02:35:51,352 ORGANIZATIONS OR ALSO SHARING 4280 02:35:51,352 --> 02:35:53,054 THEIR EXPERIENCES WITH FELLOW 4281 02:35:53,054 --> 02:36:02,396 MEMBERS OF THE COMMUNITY. 4282 02:36:02,396 --> 02:36:08,569 SO FOR -- WE HAD SIX PLENARY 4283 02:36:08,569 --> 02:36:10,771 SESSIONS, AND THE TOPICS FOR 4284 02:36:10,771 --> 02:36:13,407 THAT WERE, FIRST TO GIVE AN 4285 02:36:13,407 --> 02:36:17,211 OVERVIEW OF LGMDs FOR PEOPLE 4286 02:36:17,211 --> 02:36:20,615 WHO MAY BE NEW TO THIS SPACE, 4287 02:36:20,615 --> 02:36:22,283 AND WHO WERE LOOKING FOR SOME 4288 02:36:22,283 --> 02:36:24,118 MORE BACKGROUND INFORMATION, AS 4289 02:36:24,118 --> 02:36:26,187 WELL AS NATURAL HISTORY STUDIES. 4290 02:36:26,187 --> 02:36:30,057 IT WAS RECOGNIZED A FEW YEARS 4291 02:36:30,057 --> 02:36:31,692 AGO THAT KNOWLEDGE OF THE 4292 02:36:31,692 --> 02:36:34,328 NATURAL HISTORY OF LGMDs 4293 02:36:34,328 --> 02:36:36,464 ACROSS ALL SUBTYPES WASN'T 4294 02:36:36,464 --> 02:36:39,834 REALLY WHERE IT NEEDED TO BE FOR 4295 02:36:39,834 --> 02:36:40,735 ENABLING CLINICAL TRIALS. 4296 02:36:40,735 --> 02:36:43,371 SO THERE ARE CURRENTLY SEVERAL 4297 02:36:43,371 --> 02:36:46,274 NATURAL HISTORY STUDIES GOING ON 4298 02:36:46,274 --> 02:36:48,542 ON A VARIETY OF DIFFERENT 4299 02:36:48,542 --> 02:36:50,811 SUBTYPES, SO WE HEARD ABOUT AN 4300 02:36:50,811 --> 02:36:52,413 OVERVIEW OF THAT. 4301 02:36:52,413 --> 02:36:55,850 ALSO THE GENETICS IS VERY 4302 02:36:55,850 --> 02:36:56,817 COMPLICATED FOR LGMDs. 4303 02:36:56,817 --> 02:36:59,253 THERE WAS ABOUT 30 DIFFERENT 4304 02:36:59,253 --> 02:37:01,956 GENETIC SUBTYPES, EACH OF THEM 4305 02:37:01,956 --> 02:37:03,991 HAS MANY MUTATIONS ASSOCIATED 4306 02:37:03,991 --> 02:37:09,630 WITH DEVELOPING THE DISEASE, SO 4307 02:37:09,630 --> 02:37:10,264 UNRAVELING ALL OF THAT TO GIVE 4308 02:37:10,264 --> 02:37:13,267 PEOPLE A CLEAR DIAGNOSIS AS WELL 4309 02:37:13,267 --> 02:37:14,936 AS MANAGING THEIR CLINICAL CARE 4310 02:37:14,936 --> 02:37:16,137 IS AN IMPORTANT TOPIC. 4311 02:37:16,137 --> 02:37:19,240 WE HAD A SESSION ON THAT. 4312 02:37:19,240 --> 02:37:21,976 AS I MENTIONED BEFORE, WE HAD A 4313 02:37:21,976 --> 02:37:23,844 SESSION ON ADVOCACY INITIATIVES 4314 02:37:23,844 --> 02:37:27,748 THAT ARE RELEVANT TO LGMD, AND 4315 02:37:27,748 --> 02:37:32,386 THEN FINALLY, WE HEARD UPDATES 4316 02:37:32,386 --> 02:37:35,222 ON THE CLINICAL TRIALS THAT ARE 4317 02:37:35,222 --> 02:37:38,626 HAPPENING IN LGMDs. 4318 02:37:38,626 --> 02:37:41,495 THERE'S SEVERAL CLINICAL, ACTIVE 4319 02:37:41,495 --> 02:37:43,631 CLINICAL TRIALS ON DIFFERENT 4320 02:37:43,631 --> 02:37:46,367 THERAPEUTIC MODALITIES FOR 4321 02:37:46,367 --> 02:37:48,803 DIFFERENT SUBTYPES AS WELL AS 4322 02:37:48,803 --> 02:37:51,072 LOOKING FORWARD, HEARING ABOUT 4323 02:37:51,072 --> 02:37:54,141 SOME NEW TREATMENTS UNDER 4324 02:37:54,141 --> 02:37:58,679 DEVELOPMENT THAT AREN'T YET TO 4325 02:37:58,679 --> 02:37:59,447 CLINICAL TRIALS BUT WHICH ARE 4326 02:37:59,447 --> 02:38:04,485 SHOWING A LOT OF PROMISE. 4327 02:38:04,485 --> 02:38:06,020 AND IN ADDITION TO THE PLENARY 4328 02:38:06,020 --> 02:38:10,257 SESSION, WE HAD BREAKOUT 4329 02:38:10,257 --> 02:38:13,027 SESSIONS WHICH COVERED A WIDER 4330 02:38:13,027 --> 02:38:16,330 VARIETY OF TOPICS. 4331 02:38:16,330 --> 02:38:22,236 WE HAD SOME ON CLINICAL CARE 4332 02:38:22,236 --> 02:38:23,738 FOCUSING ESPECIALLY ON MANAGING 4333 02:38:23,738 --> 02:38:26,407 CARDIAC AND RESPIRATORY 4334 02:38:26,407 --> 02:38:29,343 INVOLVEMENT WHICH ARE VERY 4335 02:38:29,343 --> 02:38:33,214 SIGNIFICANT IN SOME ALTHOUGH NOT 4336 02:38:33,214 --> 02:38:35,282 ALL SUBTYPES OF LGMD, AS WELL AS 4337 02:38:35,282 --> 02:38:43,090 WE HAD A PRESENTATION BY 4338 02:38:43,090 --> 02:38:44,658 DR. RAVANTE JONES WHO IS HERSELF 4339 02:38:44,658 --> 02:38:48,729 LIVING WITH LGMD 2B, WHO'S ALSO 4340 02:38:48,729 --> 02:38:53,167 A CLINICIAN AND SEES MD PATIENT, 4341 02:38:53,167 --> 02:38:54,735 SO SHE KIND OF GAVE HER VIEW 4342 02:38:54,735 --> 02:38:59,006 FROM BOTH PERSPECTIVES ABOUT HOW 4343 02:38:59,006 --> 02:39:02,176 PATIENTS CAN BEST INTERACT WITH 4344 02:39:02,176 --> 02:39:05,279 CLINICIANS AND GET THE MOST OUT 4345 02:39:05,279 --> 02:39:10,618 OF THEIR CLINIC VISITS. 4346 02:39:10,618 --> 02:39:12,787 THERE WERE ALSO TOPICS ON LIVING 4347 02:39:12,787 --> 02:39:14,555 WITH LGMD, PARENTING, MANY 4348 02:39:14,555 --> 02:39:17,925 PEOPLE WITH LGMD BECOME PARENTS, 4349 02:39:17,925 --> 02:39:23,330 AND SO FOR PEOPLE WHO ARE 4350 02:39:23,330 --> 02:39:24,832 PATIENTS AND ARE PARENTS, SHARED 4351 02:39:24,832 --> 02:39:29,904 THEIR EXPERIENCES WITH OTHERS, 4352 02:39:29,904 --> 02:39:33,240 AS WELL AS LIVING A FULFILLING 4353 02:39:33,240 --> 02:39:35,209 LIFE IN TERMS OF MENTAL HEALTH 4354 02:39:35,209 --> 02:39:38,779 AND WELL-BEING. 4355 02:39:38,779 --> 02:39:41,415 THAT WAS ALSO DONE BY A PATIENT 4356 02:39:41,415 --> 02:39:49,790 WHO'S ALSO A THERAPIST. 4357 02:39:49,790 --> 02:39:56,230 IN RESEARCH, WE HAD A SESSION, 4358 02:39:56,230 --> 02:39:57,865 AND THIS, NOT ONLY DR. BROOKS OF 4359 02:39:57,865 --> 02:40:02,770 NIH BUT ALSO SHARON HESTERLEE OF 4360 02:40:02,770 --> 02:40:04,939 MDA PRESENTED ABOUT MAKING GENE 4361 02:40:04,939 --> 02:40:05,906 THERAPY MORE VERSATILE. 4362 02:40:05,906 --> 02:40:08,742 HOW CAN IT APPLY TO MORE 4363 02:40:08,742 --> 02:40:12,713 DISEASES, HOW CAN -- MIGHT WE BE 4364 02:40:12,713 --> 02:40:15,983 ABLE TO DO RETREATMENT, HOW 4365 02:40:15,983 --> 02:40:17,785 MIGHT WE BE ABLE TO GET AROUND 4366 02:40:17,785 --> 02:40:18,786 SOME OF THE PROBLEMS THAT WE'RE 4367 02:40:18,786 --> 02:40:21,655 NOW RUNNING INTO. 4368 02:40:21,655 --> 02:40:24,959 AND ALSO THERE WAS AN ASK THE 4369 02:40:24,959 --> 02:40:25,893 EXPERT QUESTION AND ANSWER 4370 02:40:25,893 --> 02:40:33,234 SESSION. 4371 02:40:33,234 --> 02:40:36,403 FINALLY, SINCE A LOT OF THE 4372 02:40:36,403 --> 02:40:38,105 PEOPLE -- PATIENTS WERE FAMILY 4373 02:40:38,105 --> 02:40:40,374 MEMBERS, WE HAD FOUR BREAKOUT 4374 02:40:40,374 --> 02:40:41,509 SESSIONS, ONE FOR PARENTS, AND 4375 02:40:41,509 --> 02:40:43,844 THREE OTHERS FOR DIFFERENT AGES 4376 02:40:43,844 --> 02:40:45,479 OF PATIENTS JUST TO MEET AND 4377 02:40:45,479 --> 02:40:48,015 TALK AND SHARE EXPERIENCES TO 4378 02:40:48,015 --> 02:40:48,349 EACH OTHER. 4379 02:40:48,349 --> 02:40:51,285 AND IN THIS PICTURE, YOU'LL SEE 4380 02:40:51,285 --> 02:40:53,621 THE HOSTS OF ONE OF THE BREAKOUT 4381 02:40:53,621 --> 02:41:02,263 SESSIONS FOR YOUNGER PEOPLE. 4382 02:41:02,263 --> 02:41:07,768 SO IN ADDITION TO THE FORMAL 4383 02:41:07,768 --> 02:41:12,973 PROGRAM ON THE SCHEDULE, WE HAD 4384 02:41:12,973 --> 02:41:14,108 A FEW OTHER THINGS GOING ON. 4385 02:41:14,108 --> 02:41:15,676 WE ACTUALLY HAD TWO CLINICAL 4386 02:41:15,676 --> 02:41:17,211 STUDIES WHICH WERE CONDUCTED AT 4387 02:41:17,211 --> 02:41:17,578 THE CONFERENCE. 4388 02:41:17,578 --> 02:41:21,315 ONE WAS BY PEOPLE FROM 4389 02:41:21,315 --> 02:41:23,117 NATIONWIDE CHILDREN'S HOSPITAL, 4390 02:41:23,117 --> 02:41:25,119 AND THE UNIVERSITY OF NEW 4391 02:41:25,119 --> 02:41:28,822 CASTLE, WHICH WAS PROVIDING -- 4392 02:41:28,822 --> 02:41:30,591 WHICH WAS CONDUCTING PHYSICAL 4393 02:41:30,591 --> 02:41:34,528 ASSESSMENTS GIVEN THE WIDE 4394 02:41:34,528 --> 02:41:35,863 VARIETY OF LGMD PATIENTS 4395 02:41:35,863 --> 02:41:37,164 REPRESENTING DIFFERENT SUBTYPES 4396 02:41:37,164 --> 02:41:39,767 AT THE MEETING. 4397 02:41:39,767 --> 02:41:43,537 ALSO THERE WAS A STUDY WHICH 4398 02:41:43,537 --> 02:41:44,238 COLLECTED SAMPLES. 4399 02:41:44,238 --> 02:41:46,240 THIS WAS CONDUCTED BY THE 4400 02:41:46,240 --> 02:41:51,245 UNIVERSITY OF MINNESOTA LED BY 4401 02:41:51,245 --> 02:41:55,216 DR. PETER KENG, AND TAKEN 4402 02:41:55,216 --> 02:42:00,454 SAMPLES TO LOOK INTO GENETICS, 4403 02:42:00,454 --> 02:42:04,725 PEOPLE WITH LGMD AND TO HELP 4404 02:42:04,725 --> 02:42:07,194 ENABLE GENOMIC STUDIES TO SOLVE 4405 02:42:07,194 --> 02:42:10,231 AND DIAGNOSE CASES. 4406 02:42:10,231 --> 02:42:15,536 DRUG DEVELOPERS HAVE NOT ONLY 4407 02:42:15,536 --> 02:42:18,005 BOOTHS WHERE THEY COULD MEET 4408 02:42:18,005 --> 02:42:19,974 PATIENTS, TALK TO THEM, SHARE 4409 02:42:19,974 --> 02:42:22,443 MORE DETAILS ABOUT THEIR DRUG 4410 02:42:22,443 --> 02:42:24,545 DEVELOPMENT PROGRAMS, BUT THEY 4411 02:42:24,545 --> 02:42:26,814 ALSO CONVENED PATIENT FOCUS 4412 02:42:26,814 --> 02:42:29,683 GROUPS, YOU KNOW, FOR PARTICULAR 4413 02:42:29,683 --> 02:42:34,588 TYPES, SHARING ABOUT PATIENTS' 4414 02:42:34,588 --> 02:42:37,658 ATTITUDES TOWARDS ORGANIZATION 4415 02:42:37,658 --> 02:42:41,929 OF CLINICAL TRIALS, AS WELL AS 4416 02:42:41,929 --> 02:42:44,632 THE PERCEPTIONS OF RISKS OF 4417 02:42:44,632 --> 02:42:48,335 POTENTIAL FUTURE TREATMENTS AND 4418 02:42:48,335 --> 02:42:52,473 BENEFITS OF FUTURE TREATMENTS. 4419 02:42:52,473 --> 02:42:54,308 SO IT WAS -- THERE WAS A LOT OF 4420 02:42:54,308 --> 02:42:57,144 THINGS GOING ON, AND IN MANY 4421 02:42:57,144 --> 02:42:58,946 CASES AT THESE MEETINGS, THIS 4422 02:42:58,946 --> 02:43:02,249 WILL BE THE FIRST TIME THAT 4423 02:43:02,249 --> 02:43:07,054 PEOPLE WILL HAVE EVEN MET A 4424 02:43:07,054 --> 02:43:10,691 FELLOW PATIENT OR LET ALONE A 4425 02:43:10,691 --> 02:43:13,193 LARGE NUMBER OF FELLOW PATIENTS, 4426 02:43:13,193 --> 02:43:17,531 LET ALONE GET TO KNOW THEM IN 4427 02:43:17,531 --> 02:43:19,066 SOME DETAIL. 4428 02:43:19,066 --> 02:43:22,636 NEXT SLIDE. 4429 02:43:22,636 --> 02:43:26,607 SO ALL OF THE SESSIONS THAT WERE 4430 02:43:26,607 --> 02:43:28,976 IN SORT OF THE MAIN ROOM, WHICH 4431 02:43:28,976 --> 02:43:30,944 WERE ALL OF THE PLENARY SESSIONS 4432 02:43:30,944 --> 02:43:36,950 AS WELL AS THE BREAKOUT SESSION 4433 02:43:36,950 --> 02:43:39,286 ON SORT OF THE NEXT GENERATION 4434 02:43:39,286 --> 02:43:41,822 OF GENE THERAPIES AND MANAGEMENT 4435 02:43:41,822 --> 02:43:44,992 OF CARDIAC AND RESPIRATORY 4436 02:43:44,992 --> 02:43:46,827 SYSTEMS WERE STREAMED AND 4437 02:43:46,827 --> 02:43:49,897 RECORDED, AND THOSE ARE ALL 4438 02:43:49,897 --> 02:43:51,432 AVAILABLE ON SPEAK FOUNDATION'S 4439 02:43:51,432 --> 02:43:52,566 YOUTUBE CHANNEL. 4440 02:43:52,566 --> 02:43:55,969 THE EASIEST WAY IS JUST GO TO 4441 02:43:55,969 --> 02:44:02,176 YOUTUBE, LOOK FOR 2023 4442 02:44:02,176 --> 02:44:03,844 LIMB-GIRDLE MUSCULAR DYSTROPHY 4443 02:44:03,844 --> 02:44:06,013 CONFERENCE, AND WE SHOULD BE 4444 02:44:06,013 --> 02:44:09,550 HAVING THE NEXT ONE IN TWO YEARS 4445 02:44:09,550 --> 02:44:10,851 AND THANK YOU FOR ALL OF YOUR 4446 02:44:10,851 --> 02:44:18,892 ATTENTION. 4447 02:44:18,892 --> 02:44:20,861 GLL THANK YO 4448 02:44:20,861 --> 02:44:22,396 >> THANK YOU SO MUCH, KATHRYN 4449 02:44:22,396 --> 02:44:24,565 AND BRAD. 4450 02:44:24,565 --> 02:44:26,233 IT'S SO GREAT TO SEE THE 4451 02:44:26,233 --> 02:44:27,501 COLLABORATION BETWEEN YOUR TWO 4452 02:44:27,501 --> 02:44:27,835 ORGANIZATIONS. 4453 02:44:27,835 --> 02:44:35,609 DO WE HAVE ANY QUESTIONS? 4454 02:44:35,609 --> 02:44:38,112 I DON'T SEE ANY. 4455 02:44:38,112 --> 02:44:40,681 SO IN THE INTEREST OF TIME, 4456 02:44:40,681 --> 02:44:41,949 WE'RE GOING TO MOVE ALONG. 4457 02:44:41,949 --> 02:44:44,184 WE THANK BOTH OF YOU FOR YOUR 4458 02:44:44,184 --> 02:44:45,419 PRESENTATION. 4459 02:44:45,419 --> 02:44:47,621 AND OUR LAST MEETING REPORT IS 4460 02:44:47,621 --> 02:44:50,691 FROM DR. ERIC CAMINO OF THE 4461 02:44:50,691 --> 02:44:51,625 PARENT PROJECT MUSCULAR 4462 02:44:51,625 --> 02:44:52,025 DYSTROPHY. 4463 02:44:52,025 --> 02:44:54,695 HE IS GOING TO TELL US ABOUT THE 4464 02:44:54,695 --> 02:44:57,297 PPMD ANNUAL CONFERENCES AND 4465 02:44:57,297 --> 02:44:59,266 OTHER SPECIALTY MEETINGS. 4466 02:44:59,266 --> 02:45:02,503 ERIC, YOU ARE ON. 4467 02:45:02,503 --> 02:45:03,270 >> THANK YOU. 4468 02:45:03,270 --> 02:45:05,806 SO I'M ERIC CAMINO, VICE 4469 02:45:05,806 --> 02:45:06,840 PRESIDENT OF RESEARCH AND 4470 02:45:06,840 --> 02:45:08,275 CLINICAL INNOVATION AT PPMD. 4471 02:45:08,275 --> 02:45:11,345 SO OUR FOCUS IS ON DUCHENNE AND 4472 02:45:11,345 --> 02:45:12,079 BECKER MUSCULAR DYSTROPHY, AND 4473 02:45:12,079 --> 02:45:13,647 SO I'M GOING TO DO KIND OF A 4474 02:45:13,647 --> 02:45:15,582 HIGH LEVEL OVERVIEW OF A FEW OF 4475 02:45:15,582 --> 02:45:16,617 THESE CONFERENCES THAT WE'VE 4476 02:45:16,617 --> 02:45:18,719 HELD IN THE PAST KIND OF YEAR 4477 02:45:18,719 --> 02:45:20,354 AND YEARS. 4478 02:45:20,354 --> 02:45:21,488 SO TO START, I WANTED TO TALK 4479 02:45:21,488 --> 02:45:23,424 ABOUT OUR ANNUAL CONFERENCE. 4480 02:45:23,424 --> 02:45:25,025 YOU CAN PROBABLY TELL BY THE 4481 02:45:25,025 --> 02:45:25,993 PICTURE ON THE RIGHT FROM THE 4482 02:45:25,993 --> 02:45:27,861 DANCE FLOOR AT THE END, WE HELD 4483 02:45:27,861 --> 02:45:29,563 THIS IN DALLAS, TEXAS THIS PAST 4484 02:45:29,563 --> 02:45:30,731 YEAR. 4485 02:45:30,731 --> 02:45:33,367 AND SO OUR ANNUAL CONFERENCE IS 4486 02:45:33,367 --> 02:45:35,068 A FAMILY-FOCUSED EVENT TO BRING 4487 02:45:35,068 --> 02:45:36,970 TOGETHER MEMBERS OF OUR 4488 02:45:36,970 --> 02:45:38,939 COMMUNITY, HELP CONNECT 4489 02:45:38,939 --> 02:45:39,606 FAMILIES, CREATE SOME OF THOSE 4490 02:45:39,606 --> 02:45:41,608 BONDS, AND THEN PROVIDE 4491 02:45:41,608 --> 02:45:42,843 EDUCATION ON KIND OF THIS 4492 02:45:42,843 --> 02:45:45,179 CONSTANTLY EVOLVING CLINICAL 4493 02:45:45,179 --> 02:45:48,382 CARE LANDSCAPE AND TRIAL 4494 02:45:48,382 --> 02:45:49,349 LANDSCAPE, AND THEN AGAIN 4495 02:45:49,349 --> 02:45:50,317 FACILITATE KIND OF CONNECTIONS 4496 02:45:50,317 --> 02:45:54,555 BETWEEN FAMILY MEMBERS. 4497 02:45:54,555 --> 02:45:55,823 SO SOME OF THE HIGHLIGHTS FROM 4498 02:45:55,823 --> 02:45:58,425 OUR 2023 CONFERENCE, WE HAD SOME 4499 02:45:58,425 --> 02:45:59,726 TALKS THAT WERE ON THE 4500 02:45:59,726 --> 02:46:01,628 IMPORTANCE OF SOCIAL CONNECTION. 4501 02:46:01,628 --> 02:46:05,866 THIS IS REALLY A THEME THAT I 4502 02:46:05,866 --> 02:46:08,802 THINK PROBABLY MANY GROUPS HAVE 4503 02:46:08,802 --> 02:46:10,938 FELT ACUTELY SINCE THE PANDEMIC, 4504 02:46:10,938 --> 02:46:12,372 IS THIS NEED FOR CONNECTION. 4505 02:46:12,372 --> 02:46:17,110 SO DR. BRANDON KOZAR GAVE A 4506 02:46:17,110 --> 02:46:17,711 REALLY GOOD TALK ON KIND OF 4507 02:46:17,711 --> 02:46:19,246 FINDING YOUR TRIBE AND WHAT THAT 4508 02:46:19,246 --> 02:46:19,613 MEANS. 4509 02:46:19,613 --> 02:46:21,949 WE HAD AN INITIAL PANEL ON CELL 4510 02:46:21,949 --> 02:46:23,317 AND GENE THERAPY AND KIND OF THE 4511 02:46:23,317 --> 02:46:23,984 ADVANCEMENTS THAT WE'RE HAVING 4512 02:46:23,984 --> 02:46:27,221 IN THE SPACE THERE FROM 4513 02:46:27,221 --> 02:46:29,356 DR. KEVIN FLANAGAN, CRAIG 4514 02:46:29,356 --> 02:46:32,059 MCDONALD AND MARUS. 4515 02:46:32,059 --> 02:46:33,260 THIS CONFERENCE CAME RIGHT ON 4516 02:46:33,260 --> 02:46:34,394 THE HEELS OF THE FIRST APPROVAL 4517 02:46:34,394 --> 02:46:37,865 OF A GENE THERAPY PRODUCT FOR 4518 02:46:37,865 --> 02:46:39,800 DUCHENNE MUSCULAR DYSTROPHY WITH 4519 02:46:39,800 --> 02:46:41,635 THE APPROVAL IN JUNE, SO I 4520 02:46:41,635 --> 02:46:42,536 THOUGHT IT WAS REALLY IMPORTANT 4521 02:46:42,536 --> 02:46:44,404 TO TALK ABOUT THAT AS WELL AS 4522 02:46:44,404 --> 02:46:45,873 THE OTHER ADVANCEMENTS THAT ARE 4523 02:46:45,873 --> 02:46:51,845 UNDERWAY IN BOTH OF THESE AREAS. 4524 02:46:51,845 --> 02:46:52,913 WE ALSO HAD RESEARCH ROW, WHICH 4525 02:46:52,913 --> 02:46:54,348 WAS A LITTLE BIT DIFFERENT FOR 4526 02:46:54,348 --> 02:46:56,717 US THIS YEAR, SO WE HAVE A LARGE 4527 02:46:56,717 --> 02:46:58,385 NUMBER OF COMPANIES THAT ARE IN 4528 02:46:58,385 --> 02:47:01,221 THE DUCHENNE AND BEGGAR SPACE, 4529 02:47:01,221 --> 02:47:02,489 ABOUT 35 ACTIVE CLINICAL TRIALS 4530 02:47:02,489 --> 02:47:03,557 AT A GIVEN TIME, SO THERE'S A 4531 02:47:03,557 --> 02:47:06,126 LOT OF INFORMATION THERE. 4532 02:47:06,126 --> 02:47:07,327 SO WE TRIED TO TARGET IT A 4533 02:47:07,327 --> 02:47:09,630 LITTLE BIT BETTER TO BREAKOUT SO 4534 02:47:09,630 --> 02:47:11,231 FAMILIES COULD FIND INFORMATION 4535 02:47:11,231 --> 02:47:12,165 ABOUT CLINICAL TRIALS THAT ARE 4536 02:47:12,165 --> 02:47:13,901 MAYBE A LITTLE BIT MORE RELEVANT 4537 02:47:13,901 --> 02:47:15,602 TO THEM, AND THEIR FAMILY 4538 02:47:15,602 --> 02:47:17,471 MEMBERS, SO THAT WAY YOU'RE NOT 4539 02:47:17,471 --> 02:47:18,105 NECESSARILY SITTING THROUGH 4540 02:47:18,105 --> 02:47:20,207 PRESENTATIONS THAT AREN'T SUPER 4541 02:47:20,207 --> 02:47:22,309 RELEVANT IF IT'S NOT FOR -- IF 4542 02:47:22,309 --> 02:47:25,646 IT'S ONLY FOR AMBULATORY 4543 02:47:25,646 --> 02:47:27,414 PATIENTS, SOMETIMES AS A 4544 02:47:27,414 --> 02:47:28,015 NON-AMBULATORY PATIENT YOU MAY 4545 02:47:28,015 --> 02:47:28,982 NOT WANT TO SIT THROUGH SOME OF 4546 02:47:28,982 --> 02:47:29,783 THOSE TALKS. 4547 02:47:29,783 --> 02:47:31,518 WE KIND OF BROKE IT UP TO GIVE 4548 02:47:31,518 --> 02:47:32,619 SOMEONE THE OPPORTUNITY TO SEE 4549 02:47:32,619 --> 02:47:33,687 REALLY RELEVANT MATERIAL. 4550 02:47:33,687 --> 02:47:35,989 AND WE HELD A NUMBER OF BREAKOUT 4551 02:47:35,989 --> 02:47:37,658 SESSIONS, SO ONE OF THEM WAS A 4552 02:47:37,658 --> 02:47:39,126 BECKER BREAKOUT SESSION BECAUSE 4553 02:47:39,126 --> 02:47:40,761 WE'VE SEEN SOME ADVANCEMENTS IN 4554 02:47:40,761 --> 02:47:44,865 THE PAST FEW YEARS WHERE OUR 4555 02:47:44,865 --> 02:47:45,699 BECKER POPULATION, WE'RE 4556 02:47:45,699 --> 02:47:46,833 STARTING TO SEE SOME CLINICAL 4557 02:47:46,833 --> 02:47:48,735 TRIALS THAT ARE BEING DEVELOPED 4558 02:47:48,735 --> 02:47:50,170 AND MOVE THROUGH THE PIPELINE IN 4559 02:47:50,170 --> 02:47:51,572 A WAY THAT WE HAVEN'T SEEN 4560 02:47:51,572 --> 02:47:52,873 BEFORE, AND THIS IS A 4561 02:47:52,873 --> 02:47:54,975 COMBINATION OF ADVANCEMENTS AND 4562 02:47:54,975 --> 02:47:56,577 THE NATURAL HISTORY THAT WE HAVE 4563 02:47:56,577 --> 02:47:58,712 FOR BECKER PATIENTS AS WELL AS 4564 02:47:58,712 --> 02:48:00,614 SOME EXCITING THERAPEUTIC 4565 02:48:00,614 --> 02:48:01,448 DEVELOPMENT. 4566 02:48:01,448 --> 02:48:03,517 AND THEN WE HAVE ALL OF OUR KIND 4567 02:48:03,517 --> 02:48:04,985 OF CARE SESSIONS THAT WE DO FOR 4568 02:48:04,985 --> 02:48:05,485 FAMILIES. 4569 02:48:05,485 --> 02:48:08,555 SO UPDATING THEM ON ADVANCEMENTS 4570 02:48:08,555 --> 02:48:12,359 IN CARDIAC CARE, GI CHALLENGES, 4571 02:48:12,359 --> 02:48:13,126 EVERYTHING INVOLVING THE 4572 02:48:13,126 --> 02:48:15,829 ENDOCRINE SYSTEMS, AND THEN, OF 4573 02:48:15,829 --> 02:48:17,664 COURSE, BEHAVIOR SESSIONS WHICH 4574 02:48:17,664 --> 02:48:18,765 REALLY ARE RELEVANT WHEN WE'RE 4575 02:48:18,765 --> 02:48:20,267 TALKING ABOUT A LOT OF OUR 4576 02:48:20,267 --> 02:48:21,802 DUCHENNE FAMILIES BECAUSE AS 4577 02:48:21,802 --> 02:48:23,103 I'LL TALK ABOUT IN SOME OF OUR 4578 02:48:23,103 --> 02:48:25,572 ENDOCRINE MEETINGS, A LOT OF 4579 02:48:25,572 --> 02:48:27,808 DUCHENNE PATIENTS ARE ON CHRONIC 4580 02:48:27,808 --> 02:48:31,378 STEROIDS, AND SO THIS DOES OR 4581 02:48:31,378 --> 02:48:32,779 CAN LEAD TO SOME ADDITIONAL 4582 02:48:32,779 --> 02:48:35,115 BEHAVIOR ISSUES AS WELL AS SOME 4583 02:48:35,115 --> 02:48:36,316 BEHAVIORAL OR DEVELOPMENT ISSUES 4584 02:48:36,316 --> 02:48:40,454 THAT COME ALONG AND A BYPRODUCT 4585 02:48:40,454 --> 02:48:43,023 OF THE DISEASE. 4586 02:48:43,023 --> 02:48:45,058 THEN WE ALSO HELD A GENE THERAPY 4587 02:48:45,058 --> 02:48:46,126 TOWN HALL AGAIN TO GIVE AN 4588 02:48:46,126 --> 02:48:46,760 OPPORTUNITY TO THE COMMUNITY TO 4589 02:48:46,760 --> 02:48:48,161 ASK QUESTIONS TO COMPANIES THAT 4590 02:48:48,161 --> 02:48:49,863 ARE DEVELOPING GENE THERAPY IN 4591 02:48:49,863 --> 02:48:51,932 THE SPACE AND THEN SOME OF OUR 4592 02:48:51,932 --> 02:48:54,201 EXPERTS THERE, SO WE HAD 4593 02:48:54,201 --> 02:48:56,803 DR. BEAR EE BERN GIVE A REALLY 4594 02:48:56,803 --> 02:48:58,438 GREAT OVERVIEW OF THE IMMUNE 4595 02:48:58,438 --> 02:48:59,139 SYSTEM AND KIND OF THE RESPONSE 4596 02:48:59,139 --> 02:49:00,707 THAT CAN OCCUR DURING GENE 4597 02:49:00,707 --> 02:49:04,845 THERAPY, WHICH IS -- IT'S A VERY 4598 02:49:04,845 --> 02:49:06,046 COMPLEX TOPIC BUT WE WANT TO 4599 02:49:06,046 --> 02:49:06,913 MAKE SURE FAMILIES ARE EDUCATED 4600 02:49:06,913 --> 02:49:08,382 FOR WHEN THEY PARTICIPATE IN 4601 02:49:08,382 --> 02:49:09,049 CLINICAL TRIALS. 4602 02:49:09,049 --> 02:49:12,019 AND OUR OPENING SPEAKER FROM 4603 02:49:12,019 --> 02:49:13,487 THAT WAS BUDDY CASSIDY, WHO WAS 4604 02:49:13,487 --> 02:49:14,388 THE PATIENT REPRESENTATIVE ON 4605 02:49:14,388 --> 02:49:20,961 THE ADVISORY COMMITTEE FOR 4606 02:49:20,961 --> 02:49:21,294 ELEBEDIS. 4607 02:49:21,294 --> 02:49:26,767 THIS WAS OUR LARGEST IN-PERSON 4608 02:49:26,767 --> 02:49:27,434 PMD EVENT. 4609 02:49:27,434 --> 02:49:29,169 WE HAD OVER 800 INDIVIDUALS ON 4610 02:49:29,169 --> 02:49:29,636 THE GROUND IN DALLAS. 4611 02:49:29,636 --> 02:49:32,105 WE HAD OVER A THOUSAND ATTENDEES 4612 02:49:32,105 --> 02:49:33,607 IN TOTAL, AND WE ARE LOOKING 4613 02:49:33,607 --> 02:49:36,209 FORWARD TO OUR 30TH ANNIVERSARY 4614 02:49:36,209 --> 02:49:36,943 IN ORLANDO NEXT YEAR. 4615 02:49:36,943 --> 02:49:37,744 WE'VE ALREADY HAD THE SAME 4616 02:49:37,744 --> 02:49:39,346 AMOUNT OF FAMILIES REGISTER FOR 4617 02:49:39,346 --> 02:49:40,580 IT SO I THINK IT'S GOING TO BE A 4618 02:49:40,580 --> 02:49:45,686 BIG EVENT AND A BIG CELEBRATION. 4619 02:49:45,686 --> 02:49:47,688 I WAS ALSO ASKED TO COVER SOME 4620 02:49:47,688 --> 02:49:49,156 OF OUR MORE SPECIALTY MEETINGS. 4621 02:49:49,156 --> 02:49:51,491 THESE ARE AIMED AT CLINICIANS, 4622 02:49:51,491 --> 02:49:53,126 RESEARCHERS, OTHER INDUSTRY 4623 02:49:53,126 --> 02:49:57,030 MEMBERS, AND SO WE HAD TWO 4624 02:49:57,030 --> 02:49:58,165 DIFFERENT SPECIALTY MEETINGS 4625 02:49:58,165 --> 02:49:59,499 TAKE PLACE IN THE PAST YEAR. 4626 02:49:59,499 --> 02:50:01,234 ONE OF WHICH WAS OUR CARDIAC 4627 02:50:01,234 --> 02:50:06,139 MEETING SO THIS IS A THREE-PART 4628 02:50:06,139 --> 02:50:07,941 SERIES. 4629 02:50:07,941 --> 02:50:09,776 OUR THIRD MEETING WILL BE IN 4630 02:50:09,776 --> 02:50:11,478 2024 IN PARTNERSHIP WITH A FEW 4631 02:50:11,478 --> 02:50:11,812 CARDIOLOGISTS. 4632 02:50:11,812 --> 02:50:14,581 WE HAVE AROUND 80 CLINICIANS AND 4633 02:50:14,581 --> 02:50:16,550 RESEARCHERS AND INDUSTRY 4634 02:50:16,550 --> 02:50:17,517 PARTICIPATE IN THIS EVENT. 4635 02:50:17,517 --> 02:50:19,553 THIS STARTED IN 2022, AS YOU 4636 02:50:19,553 --> 02:50:21,088 HEARD KIND OF IN THE EARLIER 4637 02:50:21,088 --> 02:50:22,556 TALKS FROM DR. BIANCHI THAT 4638 02:50:22,556 --> 02:50:23,790 HEART FAILURE IS THE LEADING 4639 02:50:23,790 --> 02:50:25,459 CAUSE OF MORTALITY IN DUCHENNE 4640 02:50:25,459 --> 02:50:26,993 AND WE DON'T HAVE CARDIAC END 4641 02:50:26,993 --> 02:50:28,395 POINT THAT CAN BE USED AS 4642 02:50:28,395 --> 02:50:29,596 PRIMARY OUT COME MEASURES IN 4643 02:50:29,596 --> 02:50:30,897 CLINICAL TRIALS, SO WELL HAVE 4644 02:50:30,897 --> 02:50:32,399 THIS GAP THAT WE NEED TO 4645 02:50:32,399 --> 02:50:32,933 ADDRESS. 4646 02:50:32,933 --> 02:50:34,634 WHEN WE TALK WITH THE FAMILY 4647 02:50:34,634 --> 02:50:35,635 MEMBERS, WE'RE ALWAYS SAYING 4648 02:50:35,635 --> 02:50:37,904 HEART IS A MUSCLE TOO. 4649 02:50:37,904 --> 02:50:39,573 SO THE FOCUS WAS TO GIVE US KIND 4650 02:50:39,573 --> 02:50:41,742 OF AN OVERVIEW OF OUR CURRENT 4651 02:50:41,742 --> 02:50:42,509 UNDERSTANDING OF CARDIAC END 4652 02:50:42,509 --> 02:50:42,943 POINTS. 4653 02:50:42,943 --> 02:50:44,978 WE HAD SOME PARTICIPATION FROM 4654 02:50:44,978 --> 02:50:46,279 MEMBERS OF THE FDA THERE, WHICH 4655 02:50:46,279 --> 02:50:47,848 WAS HELPFUL AS WE JUST KIND OF 4656 02:50:47,848 --> 02:50:49,616 START TO DISCUSS WHAT IS THE FDA 4657 02:50:49,616 --> 02:50:51,151 LOOKING FOR, WHAT ARE THE 4658 02:50:51,151 --> 02:50:52,819 OPINIONS AND THE DATA THAT IS 4659 02:50:52,819 --> 02:50:54,254 SUPPORTED FROM OUR CARD YOL JIS 4660 02:50:54,254 --> 02:50:58,125 CARDIOLOGISTSTO DEVELOP THESE E. 4661 02:50:58,125 --> 02:50:59,459 WE DISCUSSED TRYING TO GET A 4662 02:50:59,459 --> 02:51:00,127 BETTER UNDERSTANDING OF THE RISK 4663 02:51:00,127 --> 02:51:01,561 OF PROGRESSION AND THEN I THINK 4664 02:51:01,561 --> 02:51:03,697 IT REALLY IMPORTANTLY, TIMING OF 4665 02:51:03,697 --> 02:51:04,297 INTERVENTIONS. 4666 02:51:04,297 --> 02:51:05,565 WE DO HAVE CARE STANDARDS THAT 4667 02:51:05,565 --> 02:51:06,867 HAVE BEEN DEVELOPED ALONG WITH 4668 02:51:06,867 --> 02:51:08,435 THE CDC. 4669 02:51:08,435 --> 02:51:10,203 THOSE ARE CONSENSUS STANDARDS. 4670 02:51:10,203 --> 02:51:13,173 SO THERE'S ALWAYS KIND OF THE 4671 02:51:13,173 --> 02:51:14,474 LOWEST COMMON DENOMINATOR IN 4672 02:51:14,474 --> 02:51:19,713 TERMS OF HOW YOU'RE GOING TO USE 4673 02:51:19,713 --> 02:51:20,981 INTERVENTIONS AND SO A LOT OF 4674 02:51:20,981 --> 02:51:22,382 OUR CARDIOLOGISTS FEEL THAT HE 4675 02:51:22,382 --> 02:51:23,383 WITH CAN BE A BIT MORE 4676 02:51:23,383 --> 02:51:24,151 AGGRESSIVE SO THERE WERE 4677 02:51:24,151 --> 02:51:26,453 DISCUSSIONS IN SOME OF THE DATA 4678 02:51:26,453 --> 02:51:27,354 PRESENTED HERE FROM THE TIMING 4679 02:51:27,354 --> 02:51:29,156 OF SOME OF THOSE INTERVENTIONS. 4680 02:51:29,156 --> 02:51:30,490 AND THEN, OF COURSE, SOMETHING 4681 02:51:30,490 --> 02:51:31,792 THAT WAS REALLY RELEVANT AND 4682 02:51:31,792 --> 02:51:33,627 CONTINUES TO BE IS THE IMPACT OF 4683 02:51:33,627 --> 02:51:37,063 GENE THERAPY ON THE HEART. 4684 02:51:37,063 --> 02:51:39,466 MOST OF THE GENE THERAPY TRIALS 4685 02:51:39,466 --> 02:51:41,434 TO DATE IN THE DUCHENNE SPACE 4686 02:51:41,434 --> 02:51:43,270 ARE WITH THESE YOUNG AMBULATORY 4687 02:51:43,270 --> 02:51:45,906 PATIENTS, AND WE HAVE QUESTIONS, 4688 02:51:45,906 --> 02:51:47,040 OF COURSE, AROUND IS THE THERAPY 4689 02:51:47,040 --> 02:51:49,109 GETTING INTO THE HEART, IS IT 4690 02:51:49,109 --> 02:51:50,076 PROVIDING BENEFIT, IF YOU'RE 4691 02:51:50,076 --> 02:51:51,344 IMPROFFERRING THE SKELETAL 4692 02:51:51,344 --> 02:51:52,312 MUSCLE FUNCTION OF THESE 4693 02:51:52,312 --> 02:51:53,780 PATIENTS, IS THAT GOING TO 4694 02:51:53,780 --> 02:51:55,215 CONTRIBUTE TO FUTURE IMPACT ON 4695 02:51:55,215 --> 02:51:58,318 THE HEART IF IT'S NOT BEING 4696 02:51:58,318 --> 02:51:59,619 PROTECTED. 4697 02:51:59,619 --> 02:52:02,355 THE ULTIMATE OUTPUT FROM THIS 4698 02:52:02,355 --> 02:52:04,157 MEETING WAS AN INVESTMENT OF 4699 02:52:04,157 --> 02:52:05,692 PPMD OF $2 MILLION OVER THREE 4700 02:52:05,692 --> 02:52:07,727 YEARS TO SUPPORT THE EXPANSION 4701 02:52:07,727 --> 02:52:11,865 OF A DMD SUBGROUP IN THE ACTION 4702 02:52:11,865 --> 02:52:14,067 LEARNING NETWORK, A NATIONWIDE 4703 02:52:14,067 --> 02:52:15,402 PEDIATRIC CARDIOLOGY NETWORK. 4704 02:52:15,402 --> 02:52:19,105 AND SO THE GOAL THERE IS TO -- 4705 02:52:19,105 --> 02:52:20,273 ONE OF THE -- THE MAIN GOAL IS 4706 02:52:20,273 --> 02:52:22,542 TO COLLECT PROSPECTIVE DATA ON 4707 02:52:22,542 --> 02:52:23,810 PATIENTS, SO TO DATE, THEY'VE 4708 02:52:23,810 --> 02:52:24,711 ENROLLED 500 PATIENTS IN THIS 4709 02:52:24,711 --> 02:52:25,212 STUDY. 4710 02:52:25,212 --> 02:52:26,379 THEY'RE DOING SOME OTHER THINGS 4711 02:52:26,379 --> 02:52:28,949 LIKE DEVELOPING CARDIAC-SPECIFIC 4712 02:52:28,949 --> 02:52:30,150 PROs, DEVELOPING EDUCATION 4713 02:52:30,150 --> 02:52:31,585 MATERIALS FOR PATIENTS. 4714 02:52:31,585 --> 02:52:33,286 AND THAT CARDIAC REPORT IS 4715 02:52:33,286 --> 02:52:34,187 AVAILABLE ON OUR WEBSITE AND I 4716 02:52:34,187 --> 02:52:35,388 CAN DROP A LINK IN THE CHAT 4717 02:52:35,388 --> 02:52:38,158 AFTERWARDS. 4718 02:52:38,158 --> 02:52:40,760 AND 2023, OUR MEETING WAS 4719 02:52:40,760 --> 02:52:41,795 FOCUSED ON KIND OF THE IMPROVING 4720 02:52:41,795 --> 02:52:43,897 CARE AND UNDERSTANDING OF 4721 02:52:43,897 --> 02:52:45,465 CARDIOMYOPATHY, SO WE HAD A LOT 4722 02:52:45,465 --> 02:52:46,633 OF DISCUSSION ABOUT THE CURRENT 4723 02:52:46,633 --> 02:52:47,801 PROTOCOLS, AND SO THIS CAME OUT 4724 02:52:47,801 --> 02:52:49,669 OF A LOT OF THE WORK FROM THE 4725 02:52:49,669 --> 02:52:51,171 ACTION NETWORK AROUND 4726 02:52:51,171 --> 02:52:53,840 HARMONIZATION OF PROTOCOLSS, SO 4727 02:52:53,840 --> 02:52:56,476 THAT WAY WE ARE CONSISTENTLY 4728 02:52:56,476 --> 02:52:57,711 COLLECTING DATA ON PATIENTS 4729 02:52:57,711 --> 02:52:58,979 ACROSS OUR CENTERS, TRYING TO 4730 02:52:58,979 --> 02:53:00,347 MAKE SURE AS WELL THAT THE WAY 4731 02:53:00,347 --> 02:53:01,781 WE'RE COLLECTING DATA WILL ALLOW 4732 02:53:01,781 --> 02:53:03,016 FOR KIND OF INTEROPERABILITY 4733 02:53:03,016 --> 02:53:04,651 DOWN THE LINE WHEN WE START TO 4734 02:53:04,651 --> 02:53:05,785 COMPARE DATASETS. 4735 02:53:05,785 --> 02:53:07,754 WE SHARED DATA ON SOME MORE 4736 02:53:07,754 --> 02:53:08,622 NOVEL MEDICATIONS THAT ARE 4737 02:53:08,622 --> 02:53:11,291 STARTING TO BE IMPLEMENTED IN 4738 02:53:11,291 --> 02:53:13,994 CARDIAC CARE FOR DUCHENNE AND 4739 02:53:13,994 --> 02:53:18,398 BECKER WITH ENTRESTO AND 4740 02:53:18,398 --> 02:53:18,765 SGL2 INHIBITORS. 4741 02:53:18,765 --> 02:53:19,799 DISCUSSIONS AROUND MONITORING 4742 02:53:19,799 --> 02:53:20,934 GENE THERAPY PATIENTS, AGAIN, 4743 02:53:20,934 --> 02:53:24,504 THIS WAS DONE IN APRIL SO BEFORE 4744 02:53:24,504 --> 02:53:29,809 THE APPROVAL OF ELEBITUS BUT 4745 02:53:29,809 --> 02:53:32,045 WITH HOW OUR CARE CENTERS ARE 4746 02:53:32,045 --> 02:53:34,547 SET UP TO MONITOR PATIENTS LONG 4747 02:53:34,547 --> 02:53:36,116 TERM AND OF COURSE REALLY 4748 02:53:36,116 --> 02:53:37,250 IMPORTANT TALKING ABOUT HEALTH 4749 02:53:37,250 --> 02:53:37,884 DISPARITIES ACROSS THE 4750 02:53:37,884 --> 02:53:38,151 LANDSCAPE. 4751 02:53:38,151 --> 02:53:40,287 SO WE HAVE ANOTHER MEETING 4752 02:53:40,287 --> 02:53:41,087 REPORT FOR THAT FORTHCOMING. 4753 02:53:41,087 --> 02:53:42,422 THEN IN 2024, WE ARE GOING TO 4754 02:53:42,422 --> 02:53:44,357 HAVE OUR NEXT MEETING IN 4755 02:53:44,357 --> 02:53:45,191 BALTIMORE, MARYLAND, AND IT'S 4756 02:53:45,191 --> 02:53:46,960 GOING TO BE A BIT MORE OF A 4757 02:53:46,960 --> 02:53:50,163 DISCUSSION TO INCLUDE SOME OF 4758 02:53:50,163 --> 02:53:51,231 THE BECKER AND CARRIERS. 4759 02:53:51,231 --> 02:53:52,699 WE DO HAVE NATURAL HISTORY DATA 4760 02:53:52,699 --> 02:53:54,534 THAT SHOWS THAT THERE ARE 4761 02:53:54,534 --> 02:53:57,570 CARDIAC MANIFESTATIONS IN SOME 4762 02:53:57,570 --> 02:54:00,340 CARRIERS OF DUCHENNE AND BECKER, 4763 02:54:00,340 --> 02:54:02,142 AND SO WE WANT TO MAKE SURE THAT 4764 02:54:02,142 --> 02:54:03,710 THOSE PATIENTS WERE ALSO BEING 4765 02:54:03,710 --> 02:54:05,245 LOOKED AFTER AND BEING PROVIDED 4766 02:54:05,245 --> 02:54:08,848 WITH QUALITY CARE. 4767 02:54:08,848 --> 02:54:11,351 THE OTHER SPECIALTY MEETINGS 4768 02:54:11,351 --> 02:54:13,653 THAT WE HELD WERE ON ENDOCRINE, 4769 02:54:13,653 --> 02:54:14,921 AND SO WE HAD TWO ENDOCRINE 4770 02:54:14,921 --> 02:54:17,424 MEETINGS THIS YEAR. 4771 02:54:17,424 --> 02:54:18,525 THE FIRST ONE WAS A SMALLER 4772 02:54:18,525 --> 02:54:20,293 MEETING THAT WAS HELD IN ROME, 4773 02:54:20,293 --> 02:54:22,329 ITALY WITH ABOUT 30 HEALTHCARE 4774 02:54:22,329 --> 02:54:23,229 PROFESSIONALS AND PATIENT 4775 02:54:23,229 --> 02:54:24,264 ADVOCATES FROM A COUPLE OF 4776 02:54:24,264 --> 02:54:25,966 DIFFERENT COUNTRIES. 4777 02:54:25,966 --> 02:54:27,634 AND LOOKING AT THIS CHALLENGE 4778 02:54:27,634 --> 02:54:32,072 FROM THE LONG TERM USE OF 4779 02:54:32,072 --> 02:54:32,906 CORTICOSTEROIDS SINCE THAT IS 4780 02:54:32,906 --> 02:54:34,908 THE BACKBONE, MOST PATIENTS WITH 4781 02:54:34,908 --> 02:54:36,609 DUCHENNE ARE CHRONICALLY ON A 4782 02:54:36,609 --> 02:54:38,511 CORTICOSTEROID AND THERE'S A 4783 02:54:38,511 --> 02:54:40,413 WHOLE HOST OF SIDE EFFECTS THAT 4784 02:54:40,413 --> 02:54:43,283 COME ALONG WITH THIS, ADRENAL 4785 02:54:43,283 --> 02:54:45,118 SUPPRESSION, LONG BONE 4786 02:54:45,118 --> 02:54:47,053 FRACTURES, FAT EMBOLISM 4787 02:54:47,053 --> 02:54:49,122 SYNDROME, AND SO THERE'S A LOT 4788 02:54:49,122 --> 02:54:51,157 OF AREA HERE FOR US TO TRY AND 4789 02:54:51,157 --> 02:54:52,258 ADDRESS AND IMPROVE, AND OF 4790 02:54:52,258 --> 02:54:55,095 COURSE WE HAD IN OCTOBER THE 4791 02:54:55,095 --> 02:55:02,902 APPROVAL OF AGARY, WHICH IS -- , 4792 02:55:02,902 --> 02:55:03,837 ANOTHER CORTICOSTEROID, FOR 4793 02:55:03,837 --> 02:55:04,237 DUCHENNE. 4794 02:55:04,237 --> 02:55:05,238 SO THE PURPOSE OF THIS MEETING 4795 02:55:05,238 --> 02:55:07,874 WAS TO TALK THROUGH THE 4796 02:55:07,874 --> 02:55:08,842 PREVENTION OF THE FIRST EVER 4797 02:55:08,842 --> 02:55:09,242 FRACTURE. 4798 02:55:09,242 --> 02:55:10,477 AS YOU KNOW, FRACTURES ARE OFTEN 4799 02:55:10,477 --> 02:55:12,112 THE EVENT THAT LEADS TO LOSS OF 4800 02:55:12,112 --> 02:55:14,047 AMBULATION IN MANY OF THE BOYS, 4801 02:55:14,047 --> 02:55:15,682 AND THEN TRYING TO PREVENT 4802 02:55:15,682 --> 02:55:17,283 UNEXPECTED DEATH FROM 4803 02:55:17,283 --> 02:55:18,385 UNRECOGNIZED ADRENAL SUPPRESSION 4804 02:55:18,385 --> 02:55:21,254 AND CRISIS. 4805 02:55:21,254 --> 02:55:22,822 THAT SPURRED AND LED TO A 4806 02:55:22,822 --> 02:55:25,258 FOLLOW-ON MEETING IN OCTOBER OF 4807 02:55:25,258 --> 02:55:28,094 2023 WITH A SMALL COHORT OF 4808 02:55:28,094 --> 02:55:30,296 ENDOCRINOLOGISTS, AND THIS WAS 4809 02:55:30,296 --> 02:55:33,633 WITH DR. LEANNE WARD AT THE EURT 4810 02:55:33,633 --> 02:55:36,970 UNIVERSITY OF OTTAWA. 4811 02:55:36,970 --> 02:55:39,572 THE MAIN PURPOSE OF THIS WAS TO 4812 02:55:39,572 --> 02:55:41,107 IDENTIFIED ELEMENTS FOR AN 4813 02:55:41,107 --> 02:55:41,941 ENDOCRINOLOGY NATURAL HISTORY 4814 02:55:41,941 --> 02:55:43,243 STUDY. 4815 02:55:43,243 --> 02:55:44,544 THERE ARE CURRENTLY A NUMBER OF 4816 02:55:44,544 --> 02:55:45,945 WORK GROUPS ON WHAT ARE THE 4817 02:55:45,945 --> 02:55:46,846 COMMON ELEMENTS THAT WOULD NEED 4818 02:55:46,846 --> 02:55:48,048 TO BE COLLECTED FOR A BONE 4819 02:55:48,048 --> 02:55:50,316 HEALTH REGISTRY, AND AS THAT'S 4820 02:55:50,316 --> 02:55:52,752 DEVELOPED, LOOKING FOR WHAT THE 4821 02:55:52,752 --> 02:55:53,486 INFRASTRUCTURE WILL BE FOR KIND 4822 02:55:53,486 --> 02:55:57,390 OF RUNNING AND MAINTAINING THAT 4823 02:55:57,390 --> 02:55:59,092 REGISTRY. 4824 02:55:59,092 --> 02:56:00,627 AND OTHER TOPICS THAT CAME UP IN 4825 02:56:00,627 --> 02:56:02,495 THAT, YOU KNOW, THINGS LIKE 4826 02:56:02,495 --> 02:56:06,699 BIRTH IN PUBERTY, WEIGHT 4827 02:56:06,699 --> 02:56:08,601 MANAGEMENT, ADRENAL 4828 02:56:08,601 --> 02:56:10,070 INSUFFICIENCY, OSTEOPOROSIS AND 4829 02:56:10,070 --> 02:56:11,604 SEXUALITY AND FERTILITY, SO A 4830 02:56:11,604 --> 02:56:12,639 MEETING REPORT FOR THIS IS 4831 02:56:12,639 --> 02:56:13,339 FORTHCOMING AS WELL. 4832 02:56:13,339 --> 02:56:14,908 SO THE LAST THING I WAS TALKING 4833 02:56:14,908 --> 02:56:16,342 ABOUT TODAY IS JUST TO TALK 4834 02:56:16,342 --> 02:56:17,510 THROUGH A LITTLE BIT DIFFERENT. 4835 02:56:17,510 --> 02:56:20,613 THIS IS MORE AIMED AT KIND OF 4836 02:56:20,613 --> 02:56:22,348 THE SUPPORT SYSTEM AROUND 4837 02:56:22,348 --> 02:56:22,615 PATIENTS. 4838 02:56:22,615 --> 02:56:24,317 SO THIS IS OUR LIGHTHOUSE 4839 02:56:24,317 --> 02:56:25,151 PROJECT. 4840 02:56:25,151 --> 02:56:27,520 SO THIS WAS A PROJECT THAT CAME 4841 02:56:27,520 --> 02:56:30,723 ABOUT DURING THE PANDEMIC. 4842 02:56:30,723 --> 02:56:33,393 SO PAT FERLONG, OUR CEO, 4843 02:56:33,393 --> 02:56:34,861 PRESIDENT AND FOUNDER KIND OF 4844 02:56:34,861 --> 02:56:38,465 LAUNCHED THIS, WHERE THERE WAS 4845 02:56:38,465 --> 02:56:42,235 EIGHT WEEKS OF ABOUT 20 MOMS 4846 02:56:42,235 --> 02:56:44,070 MEETING AND TALKING ABOUT SELF 4847 02:56:44,070 --> 02:56:47,474 AND LANGUAGE THAT'S USED TO FORM 4848 02:56:47,474 --> 02:56:48,775 NARRATIVES AND CHALLENGES OF 4849 02:56:48,775 --> 02:56:51,010 BEING A CAREGIVER AND WHAT THAT 4850 02:56:51,010 --> 02:56:51,611 MEANS. 4851 02:56:51,611 --> 02:56:53,146 AND REALLY THE POWER OF LANGUAGE 4852 02:56:53,146 --> 02:56:54,614 AND HOW THAT DEFINES A LOT OF 4853 02:56:54,614 --> 02:56:58,718 HOW PEOPLE RESPOND TO 4854 02:56:58,718 --> 02:56:59,552 SELF-WORTH. 4855 02:56:59,552 --> 02:57:00,787 AND IT WENT SO WELL THAT THEY 4856 02:57:00,787 --> 02:57:02,122 CONTINUED FOR ANOTHER 37 WEEKS 4857 02:57:02,122 --> 02:57:03,590 AND THEY REALIZED THIS WAS 4858 02:57:03,590 --> 02:57:05,992 SOMETHING THAT REALLY SHOULD BE 4859 02:57:05,992 --> 02:57:07,193 OFFERED TO MORE FAMILIES. 4860 02:57:07,193 --> 02:57:14,000 SO THIS IS GUIDED BARRE CHEL 4861 02:57:14,000 --> 02:57:17,036 CALLENDAR'S ALLYSHIP PROGRAM, 4862 02:57:17,036 --> 02:57:18,738 SHE LOST A CHILD TO A RARE 4863 02:57:18,738 --> 02:57:19,772 DISEASE, SHE DOES A LOT OF 4864 02:57:19,772 --> 02:57:23,009 SPEAKING AND EDUCATION IN THESE 4865 02:57:23,009 --> 02:57:23,610 ALLYSHIP PROGRAMS. 4866 02:57:23,610 --> 02:57:25,778 SO SHE HELPS GUIDE THESE 4867 02:57:25,778 --> 02:57:27,113 MEETINGS WHICH WE'VE EXPANDED TO 4868 02:57:27,113 --> 02:57:29,649 A NUMBER OF COHORTS SO THERE IS 4869 02:57:29,649 --> 02:57:32,652 WOMEN PRIMARY CAREGIVERS, SOME 4870 02:57:32,652 --> 02:57:33,419 PRIMARY CAREGIVER GROUPS AS WELL 4871 02:57:33,419 --> 02:57:35,121 AS EXPANSION TO SPOUSES AND 4872 02:57:35,121 --> 02:57:36,289 PARTNERS OF INDIVIDUALS LIVING 4873 02:57:36,289 --> 02:57:37,423 WITH BECKER. 4874 02:57:37,423 --> 02:57:38,391 AND WE KEEP THESE IN SMALL 4875 02:57:38,391 --> 02:57:40,760 GROUPS SO ABOUT 20 INDIVIDUALS 4876 02:57:40,760 --> 02:57:42,362 PER GROUP TO TRY AND KEEP IT A 4877 02:57:42,362 --> 02:57:44,097 LITTLE BIT MORE INTIMATE AND THE 4878 02:57:44,097 --> 02:57:45,665 ABILITY FOR PEOPLE TO SHARE 4879 02:57:45,665 --> 02:57:47,000 OPENLY, AND THESE GROUPS MEET 4880 02:57:47,000 --> 02:57:49,536 EVERY OTHER WEEK FOR EIGHT 4881 02:57:49,536 --> 02:57:52,071 SESSIONS AND THEY TALK THROUGH 4882 02:57:52,071 --> 02:57:53,940 WELL-BEING, SENSE OF SELF, A LOT 4883 02:57:53,940 --> 02:57:55,675 OF PERSONAL REFLECTION. 4884 02:57:55,675 --> 02:57:59,879 AND JUST TRYING TO FIND WAYS TO 4885 02:57:59,879 --> 02:58:01,881 PROVIDE SUPPORT TO CAREGIVERS IN 4886 02:58:01,881 --> 02:58:04,184 OUR COMMUNITY THAT MAYBE THIS IS 4887 02:58:04,184 --> 02:58:05,818 OFTEN OVERLOOKED. 4888 02:58:05,818 --> 02:58:08,421 SO PART OF THIS AS WELL, IN 4889 02:58:08,421 --> 02:58:10,456 2022, WE HAVE THIS POWER OF US 4890 02:58:10,456 --> 02:58:11,658 SUMMIT WHICH WAS AGAIN FOCUSED 4891 02:58:11,658 --> 02:58:14,027 AROUND CAREGIVERS, GRANDPARENT, 4892 02:58:14,027 --> 02:58:15,361 SIBLINGS, THAT REALLY I THINK 4893 02:58:15,361 --> 02:58:17,130 AFFIRMED FOR US THE NEED TO 4894 02:58:17,130 --> 02:58:18,798 CONTINUE TO TRY AND REACH OUT TO 4895 02:58:18,798 --> 02:58:21,034 OUR COMMUNITY AND BUILD THESE 4896 02:58:21,034 --> 02:58:22,435 RESOURCES. 4897 02:58:22,435 --> 02:58:23,770 BECAUSE WHEN I ATTENDED THIS 4898 02:58:23,770 --> 02:58:25,438 EVENT, YOU HEARD A LOT OF REALLY 4899 02:58:25,438 --> 02:58:26,406 POWERFUL STORIES FROM A LOT OF 4900 02:58:26,406 --> 02:58:27,307 THESE FAMILIES ON WHAT IT MEANS 4901 02:58:27,307 --> 02:58:29,609 TO BE A CAREGIVER OR A SIBLING, 4902 02:58:29,609 --> 02:58:30,543 AND THEY DON'T ALWAYS HAVE A 4903 02:58:30,543 --> 02:58:31,911 PLACE TO SHARE THEIR STORIES AND 4904 02:58:31,911 --> 02:58:33,346 TO MAKE THOSE CONNECTIONS SO 4905 02:58:33,346 --> 02:58:35,548 WE'RE TRYING TO FACILITATE THAT 4906 02:58:35,548 --> 02:58:37,250 AND ALLOW THEM TO BUILD THEIR 4907 02:58:37,250 --> 02:58:39,118 OWN COMMUNITIES IN ADDITION TO 4908 02:58:39,118 --> 02:58:41,588 THE KIND OF BROADER COMMUNITY. 4909 02:58:41,588 --> 02:58:43,790 SO WE'RE GOING TO CONTINUE THIS 4910 02:58:43,790 --> 02:58:45,225 PROJECT AND CONTINUE TO EXPAND 4911 02:58:45,225 --> 02:58:46,459 TO OTHER GROUPS, BUT IT'S BEEN 4912 02:58:46,459 --> 02:58:48,161 REALLY WELL RECEIVED IN THE 4913 02:58:48,161 --> 02:58:48,861 COMMUNITY AND SO WE'RE LOOKING 4914 02:58:48,861 --> 02:58:51,364 FORWARD TO KIND OF BUILDING ON 4915 02:58:51,364 --> 02:58:52,098 THIS. 4916 02:58:52,098 --> 02:58:53,933 SO THAT WAS KIND OF THE 4917 02:58:53,933 --> 02:58:56,402 WHIRLWIND OF A COUPLE OF OUR 4918 02:58:56,402 --> 02:58:57,637 SPECIALTY MEETINGS AND 4919 02:58:57,637 --> 02:58:58,271 CONFERENCE, SO THANK YOU, 4920 02:58:58,271 --> 02:58:59,172 EVERYONE. 4921 02:58:59,172 --> 02:59:00,306 >> THANK YOU VERY MUCH, ERIC. 4922 02:59:00,306 --> 02:59:01,507 I THINK IN THE INTEREST OF TIME, 4923 02:59:01,507 --> 02:59:04,344 WE'RE RUNNING ABOUT 15 MINUTES 4924 02:59:04,344 --> 02:59:07,380 BEHIND, SO WE ARE GOING TO HOLD 4925 02:59:07,380 --> 02:59:08,848 THE QUESTIONS AND MOVE RIGHT 4926 02:59:08,848 --> 02:59:10,550 ALONG BECAUSE I'M SURE PEOPLE 4927 02:59:10,550 --> 02:59:12,552 ARE BEGINNING TO GET A LITTLE 4928 02:59:12,552 --> 02:59:13,987 HUNGRY IF THEY ARE ON THE EAST 4929 02:59:13,987 --> 02:59:14,687 COAST TIME ZONE. 4930 02:59:14,687 --> 02:59:18,091 SO THE NEXT SESSION OF OUR 4931 02:59:18,091 --> 02:59:18,858 MEETING WILL INCLUDE 4932 02:59:18,858 --> 02:59:19,993 PRESENTATIONS ON REGULATORY 4933 02:59:19,993 --> 02:59:23,062 APPROVALS OR PENDING REGULATORY 4934 02:59:23,062 --> 02:59:24,530 CONSIDERATIONS IN DUCHENNE 4935 02:59:24,530 --> 02:59:24,964 MUSCULAR DYSTROPHY. 4936 02:59:24,964 --> 02:59:27,133 SO I'M GOING TO TURN IT OVER TO 4937 02:59:27,133 --> 02:59:30,870 GLEN TO INTRODUCE THIS SESSION. 4938 02:59:30,870 --> 02:59:32,205 >> THANKS, DR. BIANCHI. 4939 02:59:32,205 --> 02:59:34,774 SO THE THEME OF THIS SESSION IS 4940 02:59:34,774 --> 02:59:37,176 RECENT ADVANCES IN DMD, AND THE 4941 02:59:37,176 --> 02:59:38,611 PRESENTATIONS WILL COVER 4942 02:59:38,611 --> 02:59:43,449 DIFFERENT REGULATORY ACTIVITIES. 4943 02:59:43,449 --> 02:59:46,019 SO THE MDCC CERTAINLY COVERS ALL 4944 02:59:46,019 --> 02:59:46,786 OF THE FORMS OF MUSCULAR 4945 02:59:46,786 --> 02:59:47,553 DYSTROPHY. 4946 02:59:47,553 --> 02:59:49,055 IT'S UNUSUAL FOR US TO FOCUS ON 4947 02:59:49,055 --> 02:59:50,456 ONE TYPE, IN THIS CASE, 4948 02:59:50,456 --> 02:59:52,592 DUCHENNE, SO WHAT WE'LL HEAR 4949 02:59:52,592 --> 02:59:55,061 ABOUT ARE RECENT REGULATORY 4950 02:59:55,061 --> 02:59:57,697 DECISIONS OR PENDING REGULATORY 4951 02:59:57,697 --> 03:00:00,500 DECISIONS THAT REALLY MARK THE 4952 03:00:00,500 --> 03:00:02,068 CULMINATION OF DECADES OF 4953 03:00:02,068 --> 03:00:03,269 RESEARCH AND DEVELOPMENT. 4954 03:00:03,269 --> 03:00:05,071 AND THE PRESENTERS WILL SHARE 4955 03:00:05,071 --> 03:00:06,973 SOME LESSONS LEARNED AND 4956 03:00:06,973 --> 03:00:10,243 EFFECTIVE STRATEGIES THAT HAVE 4957 03:00:10,243 --> 03:00:11,377 LED TO THESE ADVANCES. 4958 03:00:11,377 --> 03:00:12,578 SO THE GOAL OF THE SESSION ARE 4959 03:00:12,578 --> 03:00:13,479 REALLY TWOFOLD. 4960 03:00:13,479 --> 03:00:16,616 ONE, TO HIGHLIGHT THESE 4961 03:00:16,616 --> 03:00:17,550 ACCOMPLISHMENTS, BUT ALSO TO 4962 03:00:17,550 --> 03:00:18,951 CONSIDER HOW THESE REGULATORY 4963 03:00:18,951 --> 03:00:21,354 PATHS COULD BE EFFECTIVELY USED 4964 03:00:21,354 --> 03:00:25,491 IN, FOR EXAMPLE, FSHD RESEARCH 4965 03:00:25,491 --> 03:00:26,092 OR LIMB-GIRDLE MUSCULAR 4966 03:00:26,092 --> 03:00:27,460 DYSTROPHY OR OTHER FORMS OF 4967 03:00:27,460 --> 03:00:29,996 MUSCULAR DYSTROPHY BY LEVERAGING 4968 03:00:29,996 --> 03:00:31,964 THE KNOWLEDGE AND EXPERTISE OF 4969 03:00:31,964 --> 03:00:34,200 THE TRAILBLAZERS THAT WE'LL HEAR 4970 03:00:34,200 --> 03:00:38,471 FROM IN THIS SESSION. 4971 03:00:38,471 --> 03:00:41,574 SO JUST TO GIVE YOU AN IDEA OF 4972 03:00:41,574 --> 03:00:42,241 THE STRUCTURE OF THE SESSION, 4973 03:00:42,241 --> 03:00:44,444 FIRST WE'RE GOING TO HEAR A 4974 03:00:44,444 --> 03:00:46,946 CONVERSATION BETWEEN JENNIFER 4975 03:00:46,946 --> 03:00:50,983 AND LEANNA, JENNIFER'S FAMILY IS 4976 03:00:50,983 --> 03:00:52,819 PERSONS EXPERIENCED AND 4977 03:00:52,819 --> 03:00:54,253 PARTICIPATING IN A RECENT 4978 03:00:54,253 --> 03:00:55,588 CLINICAL TRIAL, THEN WE'RE GOING 4979 03:00:55,588 --> 03:00:59,592 TO HEAR FROM NIKI ARMSTRONG FROM 4980 03:00:59,592 --> 03:01:00,560 PARENT PROJECT MUSCULAR 4981 03:01:00,560 --> 03:01:01,394 DYSTROPHY, AND SHE'LL BE GIVING 4982 03:01:01,394 --> 03:01:04,464 US AN UPDATE ON NEWBORN 4983 03:01:04,464 --> 03:01:04,897 SCREENING. 4984 03:01:04,897 --> 03:01:07,233 WE'LL HEAR FROM BILL ROONEY AND 4985 03:01:07,233 --> 03:01:08,468 OREGON HEALTH SCIENCES 4986 03:01:08,468 --> 03:01:12,372 UNIVERSITY ON CLINICAL TRIAL 4987 03:01:12,372 --> 03:01:15,675 SIMULATION TOOL, THEN FROM 4988 03:01:15,675 --> 03:01:16,876 RAMONA FROM THE CRITICAL PATH 4989 03:01:16,876 --> 03:01:18,444 INSTITUTE, SHE'LL BE TALKING 4990 03:01:18,444 --> 03:01:20,947 ABOUT REGULATORY ACTIVITIES, 4991 03:01:20,947 --> 03:01:24,450 CRITICAL PATH, AND THE DUCHENNE 4992 03:01:24,450 --> 03:01:26,786 REGULATORY SCIENCE CONSORTIUM. 4993 03:01:26,786 --> 03:01:28,321 SO THAT'S KIND OF THE STRUCTURE. 4994 03:01:28,321 --> 03:01:30,823 WE'LL HAVE A LUNCH BREAK AFTER 4995 03:01:30,823 --> 03:01:32,125 THE FIRST PRESENTATION OR FIRST 4996 03:01:32,125 --> 03:01:32,825 DISCUSSION. 4997 03:01:32,825 --> 03:01:35,094 AND I'LL TURN IT BACK TO 4998 03:01:35,094 --> 03:01:38,531 DR. BIANCHI TO INTRODUCE THE 4999 03:01:38,531 --> 03:01:41,934 NEXT PRESENTERS. 5000 03:01:41,934 --> 03:01:42,769 >> OKAY. 5001 03:01:42,769 --> 03:01:43,836 WELL, WE THOUGHT THERE WOULD BE 5002 03:01:43,836 --> 03:01:46,205 NO BETTER WAY TO HIGHLIGHT THE 5003 03:01:46,205 --> 03:01:47,774 APPROVAL OF THE FIRST GENE 5004 03:01:47,774 --> 03:01:49,776 THERAPY FOR ANY FORM OF MUSCULAR 5005 03:01:49,776 --> 03:01:51,377 DYSTROPHY THAN TO INVITE SOMEONE 5006 03:01:51,377 --> 03:01:54,447 WHO HAS LIVED EXPERIENCE OF 5007 03:01:54,447 --> 03:01:55,982 PARTICIPATING IN THE TRIAL TO 5008 03:01:55,982 --> 03:01:59,152 SHARE THEIR THOUGHTS ON THIS 5009 03:01:59,152 --> 03:02:00,219 MOMENTOUS ACCOMPLISHMENT. 5010 03:02:00,219 --> 03:02:03,289 WE'D LIKE TO WELCOME 5011 03:02:03,289 --> 03:02:04,257 MS. JENNIFER HANDT. 5012 03:02:04,257 --> 03:02:05,858 MS. HANDT IS A PATIENT ADVOCATE. 5013 03:02:05,858 --> 03:02:07,927 SHE'S THE FOUNDER OF CHARLIE'S 5014 03:02:07,927 --> 03:02:09,629 CURE, AND SHE'S THE MOTHER OF 5015 03:02:09,629 --> 03:02:12,698 CHARLIE, WHO PARTICIPATED IN THE 5016 03:02:12,698 --> 03:02:14,600 EMBARK TRIAL FOR SAFETY AND 5017 03:02:14,600 --> 03:02:16,135 EFFICACY OF THE GENE THERAPY, 5018 03:02:16,135 --> 03:02:26,612 NOW CALLED ELEVIVIS IN DMD. 5019 03:02:28,448 --> 03:02:29,549 INSTEAD OF A PRESENTATION OR 5020 03:02:29,549 --> 03:02:31,751 STATEMENT TO THE COMMITTEE, WE 5021 03:02:31,751 --> 03:02:39,859 INVITED DR. LIANNA ORLANDO AND 5022 03:02:39,859 --> 03:02:41,961 HAVE A CONVERSATION LIKE A 5023 03:02:41,961 --> 03:02:43,262 FIRESIDE CHAT WITH JENNIFER. 5024 03:02:43,262 --> 03:02:44,430 IF THERE'S TIME AFTER THEIR 5025 03:02:44,430 --> 03:02:45,698 CONVERSATION, WE HOPE THAT 5026 03:02:45,698 --> 03:02:47,533 JENNIFER MAY BE OPEN TO 5027 03:02:47,533 --> 03:02:48,401 QUESTIONS FROM THE COMMITTEE OR 5028 03:02:48,401 --> 03:02:49,502 PEOPLE IN OUR AUDIENCE. 5029 03:02:49,502 --> 03:02:52,104 THANKS TO BOTH JENNIFER AND 5030 03:02:52,104 --> 03:02:52,972 LIANNA FOR PARTICIPATING IN OUR 5031 03:02:52,972 --> 03:02:54,006 MEETING TODAY. 5032 03:02:54,006 --> 03:02:55,408 >> THANK YOU SO MUCH FOR HAVING 5033 03:02:55,408 --> 03:02:58,144 US. 5034 03:02:58,144 --> 03:02:59,178 >> JENNIFER, WHY DON'T WE JUST 5035 03:02:59,178 --> 03:03:00,246 GET STARTED WITH YOU TELLING US 5036 03:03:00,246 --> 03:03:01,547 A LITTLE BIT ABOUT YOURSELF AND 5037 03:03:01,547 --> 03:03:02,148 YOUR FAMILY. 5038 03:03:02,148 --> 03:03:03,950 >> SURE. 5039 03:03:03,950 --> 03:03:05,017 FIRST, LET ME JUST START BY 5040 03:03:05,017 --> 03:03:06,819 SAYING IT'S GREAT TO GO SORT 5041 03:03:06,819 --> 03:03:09,455 AFTER ERIC TALKING ABOUT THE KEY 5042 03:03:09,455 --> 03:03:10,656 ISSUES IN DMD RIGHT NOW, BECAUSE 5043 03:03:10,656 --> 03:03:12,225 I THINK YOU'LL HEAR A LOT OF 5044 03:03:12,225 --> 03:03:13,793 THROUGH LINES IN OUR 5045 03:03:13,793 --> 03:03:14,961 CONVERSATION, WHETHER IT 5046 03:03:14,961 --> 03:03:17,497 CHARLIE'S CURE OR CURE DUCHENNE 5047 03:03:17,497 --> 03:03:19,432 OR PPMD, WE'RE ALL FOCUSED ON 5048 03:03:19,432 --> 03:03:20,500 THE SAME KIND OF PROBLEMS RIGHT 5049 03:03:20,500 --> 03:03:21,934 NOW, AND SO IT'S WONDERFUL TO 5050 03:03:21,934 --> 03:03:24,504 HAVE THIS OPPORTUNITY. 5051 03:03:24,504 --> 03:03:26,739 SO IT'S ME, MY FAMILY IS ME, MY 5052 03:03:26,739 --> 03:03:29,475 HUSBAND RICK, AND OUR TWO BOYS, 5053 03:03:29,475 --> 03:03:31,444 HENRY, WHO'S 13, HE DOES NOT 5054 03:03:31,444 --> 03:03:33,813 HAVE DMD, ALTHOUGH I LATER 5055 03:03:33,813 --> 03:03:34,914 LEARNED THAT I'M A CARRIER SO 5056 03:03:34,914 --> 03:03:37,950 THAT WAS A COIN FLIP THAT 5057 03:03:37,950 --> 03:03:39,752 FORTUNATELY HE GOT THROUGH. 5058 03:03:39,752 --> 03:03:41,721 AND CHARLIE, WHO'S 6, WHO DOES 5059 03:03:41,721 --> 03:03:43,389 HAVE DUCHENNE MUSCULAR 5060 03:03:43,389 --> 03:03:45,157 DYSTROPHY. 5061 03:03:45,157 --> 03:03:46,792 AND BEFORE HE WAS DIAGNOSED IN 5062 03:03:46,792 --> 03:03:47,560 2020, IT WAS NOT SOMETHING THAT 5063 03:03:47,560 --> 03:03:49,161 WAS EVER ON OUR RADAR, I WILL 5064 03:03:49,161 --> 03:03:51,697 JUST SAY. 5065 03:03:51,697 --> 03:03:53,099 AND IT ALSO KIND OF SO HAPPENS 5066 03:03:53,099 --> 03:03:55,001 THAT I'VE WORKED MY ENTIRE 5067 03:03:55,001 --> 03:03:58,538 CAREER IN HEALTH COMMUNICATION. 5068 03:03:58,538 --> 03:04:00,406 I SPENT SOME FORMATIVE YEARS IN 5069 03:04:00,406 --> 03:04:02,108 WASHINGTON DOING SOME LOBBYING 5070 03:04:02,108 --> 03:04:04,911 AND ADVOCACY, AND WORK A LOT IN 5071 03:04:04,911 --> 03:04:06,812 HEALTHCARE AND MEDICAL 5072 03:04:06,812 --> 03:04:07,146 COMMUNICATION. 5073 03:04:07,146 --> 03:04:08,948 SO IT'S KIND OF A STRANGE 5074 03:04:08,948 --> 03:04:10,416 FATEFUL KIND OF TRAINING FOR 5075 03:04:10,416 --> 03:04:12,118 WHERE I AM TODAY, I'M JUST 5076 03:04:12,118 --> 03:04:13,719 REALLY GRATEFUL FOR THE 5077 03:04:13,719 --> 03:04:15,354 OPPORTUNITY TO TALK TO YOU ALL 5078 03:04:15,354 --> 03:04:18,624 EARLY ON IN THE DIAGNOSIS 5079 03:04:18,624 --> 03:04:19,458 PROCESS. 5080 03:04:19,458 --> 03:04:22,128 THE FOUNDER OF CURE DUCHENNE 5081 03:04:22,128 --> 03:04:23,029 SAID TO ME ACTION IS THERAPY. 5082 03:04:23,029 --> 03:04:24,497 SO I TOTALLY AGREE WITH THAT, 5083 03:04:24,497 --> 03:04:26,499 AND TAKING ACTION BY TALKING TO 5084 03:04:26,499 --> 03:04:27,366 YOU TODAY IS THERAPEUTIC, SO 5085 03:04:27,366 --> 03:04:29,068 THANK YOU. 5086 03:04:29,068 --> 03:04:30,202 >> THANK YOU FOR THAT. 5087 03:04:30,202 --> 03:04:33,005 YOU KNOW, I WANTED EVERYONE TO 5088 03:04:33,005 --> 03:04:35,041 HEAR JUST -- TO APPRECIATE HOW 5089 03:04:35,041 --> 03:04:36,475 MUCH SCIENCE ACUMEN YOU HAVE, 5090 03:04:36,475 --> 03:04:40,780 BECAUSE I THINK THAT PROBABLY 5091 03:04:40,780 --> 03:04:41,914 SHAPED OR -- YOU HAVE MORE 5092 03:04:41,914 --> 03:04:47,086 EXPERIENCE WITH LOOKING AT 5093 03:04:47,086 --> 03:04:48,087 COMPLEX INFORMATION, CERTAINLY 5094 03:04:48,087 --> 03:04:48,854 SCIENTIFIC INFORMATION, AND IT 5095 03:04:48,854 --> 03:04:51,290 PROBABLY SHAPED YOUR PARTICULAR 5096 03:04:51,290 --> 03:04:52,058 JOURNEY IN DECISION-MAKING. 5097 03:04:52,058 --> 03:04:54,527 SO COULD YOU TELL US A LITTLE 5098 03:04:54,527 --> 03:04:57,797 BIT ABOUT WHEN CHARLIE FIRST 5099 03:04:57,797 --> 03:04:59,131 STARTED SHOWING SIGNS OF DMD AND 5100 03:04:59,131 --> 03:05:01,334 WHAT IT TOOK TO GET A DEFINITIVE 5101 03:05:01,334 --> 03:05:01,601 DIAGNOSIS? 5102 03:05:01,601 --> 03:05:03,369 >> YEAH, SO I'LL START BY SAYING 5103 03:05:03,369 --> 03:05:05,671 THAT OUR EXPERIENCE IS EXTREMELY 5104 03:05:05,671 --> 03:05:05,905 COMMON. 5105 03:05:05,905 --> 03:05:07,073 IF I TALK TO OTHER MOMS, IT'S 5106 03:05:07,073 --> 03:05:08,140 ALL THE SAME STORY. 5107 03:05:08,140 --> 03:05:09,942 IT'S THERE WERE THESE LITTLE 5108 03:05:09,942 --> 03:05:11,777 SIGNS, THERE WERE KIND OF THIS 5109 03:05:11,777 --> 03:05:13,579 LIKE SPIEDY SENSE AS PARENTS 5110 03:05:13,579 --> 03:05:16,048 THAT SOMETHING WAS NOT QUITE 5111 03:05:16,048 --> 03:05:17,016 RIGHT. 5112 03:05:17,016 --> 03:05:18,417 SO IN HIS FIRST YEAR, HE WAS 5113 03:05:18,417 --> 03:05:19,518 JUST SORT OF NOT MEETING 5114 03:05:19,518 --> 03:05:22,421 MILESTONES AND I WOULD SAY TO 5115 03:05:22,421 --> 03:05:23,456 THE PEDIATRICIAN, YOU KNOW, WE 5116 03:05:23,456 --> 03:05:25,224 HAVE CONCERNS AND SHE WOULD SORT 5117 03:05:25,224 --> 03:05:27,560 OF SAY, YOU KNOW, WHEN YOU HEAR 5118 03:05:27,560 --> 03:05:31,263 HOOVES, THINK OF HORSES, NOT 5119 03:05:31,263 --> 03:05:33,633 ZEBRAS, SO SHE HAD SEEN A LOT OF 5120 03:05:33,633 --> 03:05:35,167 PATIENTS OVER THE YEARS WHO HAD 5121 03:05:35,167 --> 03:05:36,402 DEVELOPMENTAL DELAYS AND IT'S 5122 03:05:36,402 --> 03:05:36,769 USUALLY NOTHING. 5123 03:05:36,769 --> 03:05:39,138 SO THEN IT'S LIKE YOUR SCIENCE 5124 03:05:39,138 --> 03:05:40,439 UNDERSTANDING OR MEDICAL 5125 03:05:40,439 --> 03:05:42,375 AWARENESS VERSUS YOUR INSTINCTS 5126 03:05:42,375 --> 03:05:43,709 AS A PARENT, LIKE YOU SORT OF 5127 03:05:43,709 --> 03:05:45,411 LIKE ARE LIKE, OKAY, I'D LIKE TO 5128 03:05:45,411 --> 03:05:46,846 BUY INTO THAT STORY AND GO ALONG 5129 03:05:46,846 --> 03:05:52,318 WITH THAT. 5130 03:05:52,318 --> 03:05:53,853 BUT THEN AS HE WASN'T WALKING 5131 03:05:53,853 --> 03:05:56,322 WHEN HE WAS TURNING 2, LATER AS 5132 03:05:56,322 --> 03:05:57,790 HE WAS TURNING 3, THERE WERE 5133 03:05:57,790 --> 03:05:59,458 JUST TOO MANY SIGNS TO IGNORE, 5134 03:05:59,458 --> 03:06:01,093 SO I SELF-REFERRED TO A 5135 03:06:01,093 --> 03:06:03,863 NEUROLOGIST TO GET THAT 5136 03:06:03,863 --> 03:06:05,965 DIAGNOSIS. 5137 03:06:05,965 --> 03:06:10,136 IT'S FUNNY WITH DMD, IT'S SUCH A 5138 03:06:10,136 --> 03:06:11,103 PROFOUNDLY IMPACTFUL DISEASE, 5139 03:06:11,103 --> 03:06:14,306 THERE'S SO MANY WAYS IN WHICH IT 5140 03:06:14,306 --> 03:06:16,108 AFFECTS MOBILITY AND OTHER 5141 03:06:16,108 --> 03:06:17,243 THINGS. 5142 03:06:17,243 --> 03:06:18,577 BUT AT FIRST IT'S VERY SUBTLE. 5143 03:06:18,577 --> 03:06:22,815 LIKE I KNOW A LOT OF FAMILIES 5144 03:06:22,815 --> 03:06:24,517 WHO SORT OF -- WITH ANOTHER 5145 03:06:24,517 --> 03:06:26,018 CONCERN AND THEN HAD A BLOOD 5146 03:06:26,018 --> 03:06:28,487 PANEL DRAWN AND IT TURNED OUT 5147 03:06:28,487 --> 03:06:30,790 LIVER ENZYMES WERE ELEVATED AND 5148 03:06:30,790 --> 03:06:32,024 THAT'S HOW THEY GOT THE 5149 03:06:32,024 --> 03:06:32,291 DIAGNOSIS. 5150 03:06:32,291 --> 03:06:33,325 SO THE SORT OF DIAGNOSTIC 5151 03:06:33,325 --> 03:06:33,993 ODYSSEY IS ONE OF THE THINGS 5152 03:06:33,993 --> 03:06:35,928 THAT I KIND OF WANT EVERYONE TO 5153 03:06:35,928 --> 03:06:39,932 UNDERSTAND, IS THAT IT TAKES A 5154 03:06:39,932 --> 03:06:40,866 WHILE TO GET THE DIAGNOSIS. 5155 03:06:40,866 --> 03:06:42,635 I THINK THE AVERAGE IS AGE 5, 5156 03:06:42,635 --> 03:06:45,805 WHEN REALLY THE DIAGNOSTIC IS SO 5157 03:06:45,805 --> 03:06:46,005 EASY. 5158 03:06:46,005 --> 03:06:47,840 IT'S A CK TEST, IF IT'S 5159 03:06:47,840 --> 03:06:49,608 ELEVATED, IT'S USUALLY MUSCULAR 5160 03:06:49,608 --> 03:06:51,677 DYSTROPHY AND THEN IT GOES FROM 5161 03:06:51,677 --> 03:06:53,579 THERE. 5162 03:06:53,579 --> 03:06:55,147 BUT IT WAS AN ODYSSEY AND IT DID 5163 03:06:55,147 --> 03:06:56,015 TAKE SOME TIME. 5164 03:06:56,015 --> 03:06:58,317 >> AND WHEN YOU FINALLY DID GET 5165 03:06:58,317 --> 03:07:00,019 THE DIAGNOSIS, WHAT WAS THAT 5166 03:07:00,019 --> 03:07:02,188 LIKE FOR YOUR FAMILY? 5167 03:07:02,188 --> 03:07:05,758 >> I MEAN, IT JUST IS LIKE IT'S 5168 03:07:05,758 --> 03:07:06,158 EARTH SHATTERING. 5169 03:07:06,158 --> 03:07:09,261 IT JUST -- EVERYTHING CHANGES IN 5170 03:07:09,261 --> 03:07:11,430 THAT MOMENT, YOU KNOW? 5171 03:07:11,430 --> 03:07:13,432 EVERYTHING. 5172 03:07:13,432 --> 03:07:16,368 YOUR THOUGHTS ABOUT THE FUTURE, 5173 03:07:16,368 --> 03:07:17,803 YOUR DAILY LIFE, EVERYTHING IS 5174 03:07:17,803 --> 03:07:23,275 IMPACTED. 5175 03:07:23,275 --> 03:07:25,377 I SORT OF FELT LIKE WHAT I COULD 5176 03:07:25,377 --> 03:07:28,848 DO IS EDUCATE MYSELF AND FIGURE 5177 03:07:28,848 --> 03:07:30,049 OUT -- AT THE SAME TIME, 5178 03:07:30,049 --> 03:07:30,683 DUCHENNE IS A TERRIBLE 5179 03:07:30,683 --> 03:07:32,384 DIAGNOSIS, BUT AT THE SAME TIME, 5180 03:07:32,384 --> 03:07:34,487 I WAS HEARTENED TO REALIZE THAT 5181 03:07:34,487 --> 03:07:35,721 THERE WAS SO MUCH GOING ON, 5182 03:07:35,721 --> 03:07:37,356 THERE WAS SO MUCH RESEARCH 5183 03:07:37,356 --> 03:07:38,390 HAPPENING, AND SO MANY THINGS IN 5184 03:07:38,390 --> 03:07:39,992 THE PIPELINE THAT COULD HELP 5185 03:07:39,992 --> 03:07:42,361 CHARLIE POTENTIALLY THAT THAT 5186 03:07:42,361 --> 03:07:45,598 SORT OF GAVE ME A LOT OF HOPE. 5187 03:07:45,598 --> 03:07:46,832 >> AND HOW DID YOU FIND OUT 5188 03:07:46,832 --> 03:07:49,401 ABOUT THE TRIAL? 5189 03:07:49,401 --> 03:07:54,106 >> SO I THINK IT'S KIND OF -- 5190 03:07:54,106 --> 03:07:55,508 IT'S INTERESTING BECAUSE I THINK 5191 03:07:55,508 --> 03:07:58,377 A LOT OF PEOPLE SORT OF FEEL 5192 03:07:58,377 --> 03:07:59,678 LIKE THEIR CARE TEAM WILL MAKE 5193 03:07:59,678 --> 03:08:00,913 THEM AWARE OF TRIALS, AND IN 5194 03:08:00,913 --> 03:08:03,482 SOME WAYS, THAT DOES HAPPEN. 5195 03:08:03,482 --> 03:08:04,784 BUT I THINK IT ACTUALLY REQUIRES 5196 03:08:04,784 --> 03:08:07,419 A LOT OF HOMEWORK ON PARENTS' 5197 03:08:07,419 --> 03:08:07,787 PART. 5198 03:08:07,787 --> 03:08:10,990 I WAS JUST A SQUEAKY WHEEL. 5199 03:08:10,990 --> 03:08:12,625 I JUST FIGURED OUT WHERE THE 5200 03:08:12,625 --> 03:08:13,826 DIFFERENT GENE -- SO LET ME JUST 5201 03:08:13,826 --> 03:08:15,795 BACK UP FOR A SECOND. 5202 03:08:15,795 --> 03:08:17,663 SO IT BECAME OBVIOUS EARLY ON 5203 03:08:17,663 --> 03:08:19,899 THAT CHARLIE'S MUTATION WOULD 5204 03:08:19,899 --> 03:08:23,035 NOT BE AMENABLE TO ANY OF THE 5205 03:08:23,035 --> 03:08:33,712 EXON SKIPPERS THAT WO, SO IT BEE 5206 03:08:33,712 --> 03:08:36,382 CLEAR THAT THAT WAS OUR 5207 03:08:36,382 --> 03:08:41,320 REALLY -- LIKE OUR MAIN HOPE, 5208 03:08:41,320 --> 03:08:42,955 SORT OF HARNESSING WHATEVER 5209 03:08:42,955 --> 03:08:44,323 MEDICINE WAS OUT THERE FOR 5210 03:08:44,323 --> 03:08:47,626 CHARLIE RIGHT NOW. 5211 03:08:47,626 --> 03:08:50,362 SO ONCE THAT WAS A FOCUS FOR ME, 5212 03:08:50,362 --> 03:08:51,397 I DID SOME HOMEWORK, I FIGURED 5213 03:08:51,397 --> 03:08:52,531 OUT WHERE THE SITES WERE OPENING 5214 03:08:52,531 --> 03:08:55,768 FOR THE VARIOUS TRIALS, AND I 5215 03:08:55,768 --> 03:08:58,170 REACHED OUT, I HAD CONVERSATIONS 5216 03:08:58,170 --> 03:08:59,672 WITH MULTIPLE CENTERS BR 5217 03:08:59,672 --> 03:09:02,541 SETTLING ON WHERE WE ENDED UP 5218 03:09:02,541 --> 03:09:03,843 FOR EMBARK. 5219 03:09:03,843 --> 03:09:05,311 AND I JUST LIKEN TO IT'S A 5220 03:09:05,311 --> 03:09:06,245 LITTLE BIT FEELING LIKE YOU'RE 5221 03:09:06,245 --> 03:09:07,847 KIND OF PARADING YOUR KID AROUND 5222 03:09:07,847 --> 03:09:10,349 AS A CONTESTANT, LIKE, THIS IS 5223 03:09:10,349 --> 03:09:12,451 CHARLIE, HE WILL BE GREAT FOR A 5224 03:09:12,451 --> 03:09:13,018 TRIAL. 5225 03:09:13,018 --> 03:09:14,653 SO IT'S KIND OF AN INTERESTING 5226 03:09:14,653 --> 03:09:16,622 PROCESS, BUT AS A PARENT, YOU 5227 03:09:16,622 --> 03:09:20,793 DEFINITELY HAVE TO BE VERY 5228 03:09:20,793 --> 03:09:24,430 ACTIVE AND PROACTIVE, AND IT DID 5229 03:09:24,430 --> 03:09:26,899 OCCUR TO ME DURING THAT PROCESS 5230 03:09:26,899 --> 03:09:28,367 THAT I AM FAIRLY -- I HAVE A LOT 5231 03:09:28,367 --> 03:09:31,270 OF RESOURCES, WHAT ABOUT 5232 03:09:31,270 --> 03:09:32,371 FAMILIES WHO DON'T HAVE THOSE 5233 03:09:32,371 --> 03:09:33,239 RESOURCES? 5234 03:09:33,239 --> 03:09:33,906 SO THAT'S ONE THING THAT HAS 5235 03:09:33,906 --> 03:09:35,507 BEEN ON MY MIND THAT I JUST WANT 5236 03:09:35,507 --> 03:09:37,142 TO SHARE THAT I THINK THE ACCESS 5237 03:09:37,142 --> 03:09:41,680 TO THE CLINICAL TRIALS IS 5238 03:09:41,680 --> 03:09:42,481 DIFFICULT. 5239 03:09:42,481 --> 03:09:44,617 >> IN THE END, DID YOU END UP 5240 03:09:44,617 --> 03:09:46,252 PARTICIPATING IN THE CLINICAL 5241 03:09:46,252 --> 03:09:47,920 TRIAL AT THE SITE WHERE YOU GET 5242 03:09:47,920 --> 03:09:50,422 YOUR CARE OR WAS IT A DIFFERENT 5243 03:09:50,422 --> 03:09:50,856 SITE? 5244 03:09:50,856 --> 03:09:53,759 >> I DIDN'T, NO, THAT WAS NOT A 5245 03:09:53,759 --> 03:09:55,561 SITE FOR SEREPTA. 5246 03:09:55,561 --> 03:09:58,063 THERE WAS A LOT OF 5247 03:09:58,063 --> 03:09:59,565 DECISION-MAKING THAT WENT INTO 5248 03:09:59,565 --> 03:10:01,066 CHOOSING EMBARC. 5249 03:10:01,066 --> 03:10:04,336 ONE OF THE THINGS WAS THAT IT 5250 03:10:04,336 --> 03:10:05,304 WAS ONLINE AT THE RIGHT TIME, 5251 03:10:05,304 --> 03:10:07,039 BUT ALSO THAT THE MOST PATIENTS 5252 03:10:07,039 --> 03:10:10,743 WHO HAD RECEIVED GENE THERAPY 5253 03:10:10,743 --> 03:10:14,246 FOR DUCHENNE HAD RECEIVED THE 5254 03:10:14,246 --> 03:10:15,247 SEREPTA DRUG SO THAT WAS 5255 03:10:15,247 --> 03:10:17,283 REASSURING IN TERMS OF SAFETY. 5256 03:10:17,283 --> 03:10:19,318 SO OUR CARE SITE WAS NOT A SITE 5257 03:10:19,318 --> 03:10:21,787 FOR THE EMBARC TRIAL, SO I WAS 5258 03:10:21,787 --> 03:10:25,391 FOCUSED OND FIND ON FINDING SOMG 5259 03:10:25,391 --> 03:10:26,992 THAT COULD WORK FOR OUR FAMILY. 5260 03:10:26,992 --> 03:10:27,960 ULTIMATELY WE CHOSE THE SITE 5261 03:10:27,960 --> 03:10:30,429 THAT WE CHOSE BASED ON 5262 03:10:30,429 --> 03:10:33,399 CONFIDENCE IN THE PROVIDERS AND 5263 03:10:33,399 --> 03:10:34,233 JUST A GOOD FEELING ABOUT THE 5264 03:10:34,233 --> 03:10:36,602 WAY THAT THEY WERE GOING TO CARE 5265 03:10:36,602 --> 03:10:37,069 FOR CHARLIE. 5266 03:10:37,069 --> 03:10:38,837 >> AND HOW FAR DID YOU HAVE TO 5267 03:10:38,837 --> 03:10:42,641 TRAVEL THEN TO -- FOR THE 5268 03:10:42,641 --> 03:10:42,908 TREATMENT? 5269 03:10:42,908 --> 03:10:45,244 >> SO WE LIVE IN DARIAN, 5270 03:10:45,244 --> 03:10:46,111 CONNECTICUT OUTSIDE OF NEW YORK 5271 03:10:46,111 --> 03:10:47,579 CITY AND WE TRAVEL TO THE 5272 03:10:47,579 --> 03:10:51,617 UNIVERSITY OF ROCHESTER. 5273 03:10:51,617 --> 03:10:54,653 SO THAT WAS A FAIRLY SIGNIFICANT 5274 03:10:54,653 --> 03:10:56,588 JOURNEY TO MAKE, ESPECIALLY WHEN 5275 03:10:56,588 --> 03:10:58,390 THE TRIAL IS SUCH A COMMITMENT, 5276 03:10:58,390 --> 03:11:00,125 IT WAS WEEK AFTER WEEK THE FIRST 5277 03:11:00,125 --> 03:11:02,394 YEAR, UNFORTUNATELY THERE WAS A 5278 03:11:02,394 --> 03:11:03,996 SHORTAGE OF NURSES AVAILABLE TO 5279 03:11:03,996 --> 03:11:05,831 COME TO OUR HOUSE TO SORT OF 5280 03:11:05,831 --> 03:11:07,833 BRIDGE THE GAP AND SOLVE SOME OF 5281 03:11:07,833 --> 03:11:10,970 THOSE LOGISTICAL CONCERNS, I 5282 03:11:10,970 --> 03:11:13,238 THINK DUE TO COVID, SO THAT WAS 5283 03:11:13,238 --> 03:11:14,974 KIND OF A BARRIER, I WOULD SAY. 5284 03:11:14,974 --> 03:11:18,010 BUT YEAH, IT'S A COMMITMENT FOR 5285 03:11:18,010 --> 03:11:19,144 SURE. 5286 03:11:19,144 --> 03:11:20,279 >> THANK YOU FOR ALL OF THAT. 5287 03:11:20,279 --> 03:11:21,780 I THINK IT JUST REINFORCES WHAT 5288 03:11:21,780 --> 03:11:29,254 YOU WERE SAYING THAT YOU KIND OF 5289 03:11:29,254 --> 03:11:30,489 HAVE TO TAKE A LOT OF THINGS 5290 03:11:30,489 --> 03:11:32,224 INTO YOUR OWN HANDS, AND NOT ALL 5291 03:11:32,224 --> 03:11:33,726 FAMILIES HAVE THESE MEANS, 5292 03:11:33,726 --> 03:11:34,393 RIGHT, BECAUSE IT'S A BURDEN TO 5293 03:11:34,393 --> 03:11:36,762 THE FAMILY TO HAVE PEOPLE 5294 03:11:36,762 --> 03:11:37,896 TRAVELING, ESPECIALLY IF YOU 5295 03:11:37,896 --> 03:11:40,366 HAVE OTHER CHILDREN, AND IT'S A 5296 03:11:40,366 --> 03:11:42,267 BIG FOCUS FOR THE ENTIRE FAMILY, 5297 03:11:42,267 --> 03:11:42,501 CORRECT? 5298 03:11:42,501 --> 03:11:43,969 >> ABSOLUTELY. 5299 03:11:43,969 --> 03:11:44,370 YEAH. 5300 03:11:44,370 --> 03:11:49,475 BUT I MEAN, YOU KNOW, IT WAS A 5301 03:11:49,475 --> 03:11:50,142 DECISION-MAKING PROCESS BUT AT 5302 03:11:50,142 --> 03:11:53,045 THE END OF THE DAY, WITH WEIGHED 5303 03:11:53,045 --> 03:11:53,445 A LOT OF THINGS. 5304 03:11:53,445 --> 03:11:54,446 THERE WAS THE COST OF DOING 5305 03:11:54,446 --> 03:11:55,280 NOTHING, WHICH WE KNOW THE 5306 03:11:55,280 --> 03:11:56,248 NATURAL HISTORY OF THE DISEASE, 5307 03:11:56,248 --> 03:11:58,951 WE KNOW EXACTLY WHAT'S GOING TO 5308 03:11:58,951 --> 03:12:00,052 HAPPEN. 5309 03:12:00,052 --> 03:12:03,022 WE CERTAINLY WORRIED ABOUT AN 5310 03:12:03,022 --> 03:12:04,556 EXPERIMENTAL THERAPY, A TRIAL IS 5311 03:12:04,556 --> 03:12:07,226 ALWAYS SORT OF A RISK. 5312 03:12:07,226 --> 03:12:08,827 EVEN THOUGH SO MANY PATIENTS 5313 03:12:08,827 --> 03:12:10,462 HAVE BEEN DOSED, WE FELT 5314 03:12:10,462 --> 03:12:14,133 REASONABLY ASSURED BY THE 5315 03:12:14,133 --> 03:12:15,401 SAFETY, THERE WAS THAT DEATH 5316 03:12:15,401 --> 03:12:16,935 THAT WAS REFERENCED EARLIER, I 5317 03:12:16,935 --> 03:12:19,071 WAS REALLY HEARTENED BY THE FACT 5318 03:12:19,071 --> 03:12:21,106 THAT SO MANY OF THE SPONSORS HAD 5319 03:12:21,106 --> 03:12:23,008 COME TOGETHER AS DR. BONNEMANN 5320 03:12:23,008 --> 03:12:24,243 HAD REFERENCED EARLIER, AND 5321 03:12:24,243 --> 03:12:28,647 TRIED TO REALLY FIGURE -- ASSESS 5322 03:12:28,647 --> 03:12:30,682 OUT, WHAT WAS THE CAUSE OF THE 5323 03:12:30,682 --> 03:12:32,985 SAEs IN THOSE TRIALS AND HAVE 5324 03:12:32,985 --> 03:12:35,154 FIGURED OUT THAT IT WAS MOSTLY 5325 03:12:35,154 --> 03:12:37,523 EXONS THAT WERE JUST BEFORE 5326 03:12:37,523 --> 03:12:39,224 CHARLIE'S MUTATION, CHARLIE JUST 5327 03:12:39,224 --> 03:12:42,561 SQUEAKED THROUGH, HE'S 22 TO 39, 5328 03:12:42,561 --> 03:12:44,363 BUT JUST THE FACT THAT THAT HAD 5329 03:12:44,363 --> 03:12:44,797 HAPPENED AND SERIOUS 5330 03:12:44,797 --> 03:12:46,465 CONSIDERATION HAD BEEN MADE, 5331 03:12:46,465 --> 03:12:50,035 REALLY GAVE ME A LOT OF 5332 03:12:50,035 --> 03:12:50,836 CONFIDENCE. 5333 03:12:50,836 --> 03:12:55,007 SO ULTIMATELY IT WAS JUST A LOT 5334 03:12:55,007 --> 03:12:57,910 OF -- A LEAP OF FAITH, I WOULD 5335 03:12:57,910 --> 03:12:58,410 SAY. 5336 03:12:58,410 --> 03:13:00,345 >> IT'S LIKE YOU HAVE AN 5337 03:13:00,345 --> 03:13:01,080 HONORARY PH.D., RIGHT? 5338 03:13:01,080 --> 03:13:05,851 HOW DID YOU FIND OUT ABOUT -- 5339 03:13:05,851 --> 03:13:06,485 ALL OF THIS SPECIFIC INFORMATION 5340 03:13:06,485 --> 03:13:07,686 IN REALTIME, THE COLLABORATION 5341 03:13:07,686 --> 03:13:09,154 BETWEEN THE COMPANIES THAT 5342 03:13:09,154 --> 03:13:11,223 DR. BONNEMANN TALKED ABOUT, YOU 5343 03:13:11,223 --> 03:13:12,858 KNOW, THEM SHARING THAT 5344 03:13:12,858 --> 03:13:14,593 INFORMATION OPENLY, THIS IS 5345 03:13:14,593 --> 03:13:15,961 PROOF IT GETS RIGHT TO THE 5346 03:13:15,961 --> 03:13:17,863 FAMILIES WHO NEED TO MAKE THOSE 5347 03:13:17,863 --> 03:13:19,565 DECISIONS. 5348 03:13:19,565 --> 03:13:22,334 HOW DO YOU FIND OUT ABOUT THIS 5349 03:13:22,334 --> 03:13:24,236 INFORMATION TO INFORM YOUR 5350 03:13:24,236 --> 03:13:24,503 DECISIONS? 5351 03:13:24,503 --> 03:13:27,272 >> I MEAN, I WOULD SAY MAINLY IN 5352 03:13:27,272 --> 03:13:29,174 TERMS OF THAT SPECIFIC PIECE OF 5353 03:13:29,174 --> 03:13:31,043 IT, I HAD LEARNED THROUGH CURE 5354 03:13:31,043 --> 03:13:34,046 DUCHENNE AND THROUGH PPMD, HAD 5355 03:13:34,046 --> 03:13:35,280 WEBINARS AND INFORMATIONAL 5356 03:13:35,280 --> 03:13:36,615 SESSIONS AND MAKE THEIR 5357 03:13:36,615 --> 03:13:37,349 SCIENTISTS AVAILABLE TO SHARE 5358 03:13:37,349 --> 03:13:44,556 THAT KIND OF INFORMATION. 5359 03:13:44,556 --> 03:13:45,757 SO I REALLY TURNED TO EXPERTS TO 5360 03:13:45,757 --> 03:13:46,825 TELL ME, IS THIS GOING TO BE 5361 03:13:46,825 --> 03:13:49,728 SAFE BASED ON EVERYTHING WE KNOW 5362 03:13:49,728 --> 03:13:50,662 ABOUT AAV AND THE TRANS GENE, IS 5363 03:13:50,662 --> 03:13:52,564 THIS GOING TO BE SAFE FOR 5364 03:13:52,564 --> 03:13:54,466 CHARLIE'S SPECIFIC MUTATION, AND 5365 03:13:54,466 --> 03:13:56,001 I FELT LIKE OVERALL THAT 5366 03:13:56,001 --> 03:13:57,102 CONFIDENCE DID OUT WEIGH ANY 5367 03:13:57,102 --> 03:14:00,939 CONCERN ABOUT RISK. 5368 03:14:00,939 --> 03:14:01,807 >> PERFECT. 5369 03:14:01,807 --> 03:14:03,242 SO MAYBE WE CAN GO BACK TO WHAT 5370 03:14:03,242 --> 03:14:05,244 WAS THE PROCESS LIKE FOR BEING 5371 03:14:05,244 --> 03:14:06,345 SCREENED AND SEEING IF CHARLIE 5372 03:14:06,345 --> 03:14:09,081 WOULD BE ACCEPTED INTO THE 5373 03:14:09,081 --> 03:14:10,115 TRIAL? 5374 03:14:10,115 --> 03:14:12,317 >> SO I KIND OF GO BACK TO THE 5375 03:14:12,317 --> 03:14:14,019 EARLIER COMMENT I MADE ABOUT 5376 03:14:14,019 --> 03:14:15,554 FEELING LIKE A CONTESTANT 5377 03:14:15,554 --> 03:14:16,255 BECAUSE THE SCREENING PROCESS IS 5378 03:14:16,255 --> 03:14:17,456 TWO DAYS, SO YOU TRAVEL TO THE 5379 03:14:17,456 --> 03:14:20,092 SITE, AND YOU GO THROUGH THIS 5380 03:14:20,092 --> 03:14:23,729 NECESSARY SCREENING PROCESS, AND 5381 03:14:23,729 --> 03:14:25,397 THE THING THAT REALLY WORRIED 5382 03:14:25,397 --> 03:14:28,634 MEMOS WAS THAT, YOU KNOW, THE 5383 03:14:28,634 --> 03:14:33,138 NSAA IS A VERY -- IT'S A 5384 03:14:33,138 --> 03:14:35,207 MULTIFACETED TEST, AND SO IF 5385 03:14:35,207 --> 03:14:36,875 CHARLIE AT ANY POINT DECIDED 5386 03:14:36,875 --> 03:14:38,010 THAT HE DIDN'T WANT TO DO ANY OF 5387 03:14:38,010 --> 03:14:39,611 THE ACTIVITIES, REMEMBER, WE'RE 5388 03:14:39,611 --> 03:14:41,313 TALKING ABOUT A -- YOU KNOW, AT 5389 03:14:41,313 --> 03:14:44,383 THE TIME HE WAS 4 YEARS OLD, 5390 03:14:44,383 --> 03:14:44,950 THEN WHAT? 5391 03:14:44,950 --> 03:14:50,622 WE WOULD NOT GET INTO THE TRIAL. 5392 03:14:50,622 --> 03:14:52,224 HE HAD NO IDEA AS A YOUNG CHILD 5393 03:14:52,224 --> 03:14:53,725 THE STAKES THAT WERE INVOLVED. 5394 03:14:53,725 --> 03:14:55,627 SO HERE I AM AS A MOM BEING LIKE 5395 03:14:55,627 --> 03:14:57,095 THIS IS THE MOST IMPORTANT GAME 5396 03:14:57,095 --> 03:14:59,865 SHOW OF OUR LIVES, YOU NEED TO 5397 03:14:59,865 --> 03:15:03,669 PERFORM, AND AND THAT SORT OF 5398 03:15:03,669 --> 03:15:06,605 CLUED IN TO ME THE LIMITS OF -- 5399 03:15:06,605 --> 03:15:09,575 NOT LIMITS BUT THE CONCERNS 5400 03:15:09,575 --> 03:15:11,310 ABOUT NSAA AS A TOOL, BECAUSE 5401 03:15:11,310 --> 03:15:13,245 YOU ARE DEALING WITH THESE YOUNG 5402 03:15:13,245 --> 03:15:15,147 CHILDREN, AND COMPLIANCE IS KEY, 5403 03:15:15,147 --> 03:15:16,481 I MEAN, YOU ARE NOT GOING TO GET 5404 03:15:16,481 --> 03:15:18,083 A FAIR ASSESSMENT IF THE CHILD 5405 03:15:18,083 --> 03:15:22,454 JUST WON'T EVEN COMPLY. 5406 03:15:22,454 --> 03:15:23,855 SO IT WAS STRESSFUL. 5407 03:15:23,855 --> 03:15:25,190 I WILL SAY IT DEFINITELY -- WE 5408 03:15:25,190 --> 03:15:28,560 WERE LUCKY IN THAT TWO 5409 03:15:28,560 --> 03:15:29,895 RELATIVELY LOCAL SITES WERE 5410 03:15:29,895 --> 03:15:31,296 OPENING FOR SAREPTA, SO WE DID 5411 03:15:31,296 --> 03:15:33,165 HAVE KIND OF A CHOICE, AND THE 5412 03:15:33,165 --> 03:15:35,033 TEAM THAT WE WENT WITH JUST MADE 5413 03:15:35,033 --> 03:15:38,070 US FEEL SO CONFIDENT AND 5414 03:15:38,070 --> 03:15:40,038 COMFORTABLE AND JUST -- WE JUST 5415 03:15:40,038 --> 03:15:41,840 FELT LIKE WE'RE IN THE BEST 5416 03:15:41,840 --> 03:15:44,009 HANDS POSSIBLE, SO THAT HELPED A 5417 03:15:44,009 --> 03:15:46,645 LOT. 5418 03:15:46,645 --> 03:15:48,914 >> CAN YOU WALK US THROUGH THE 5419 03:15:48,914 --> 03:15:50,582 DAY WHEN CHARLIE ACTUALLY 5420 03:15:50,582 --> 03:15:51,717 RECEIVED THE THERAPY, HOW DID 5421 03:15:51,717 --> 03:15:51,950 THAT GO? 5422 03:15:51,950 --> 03:15:54,553 >> YEAH, I MEAN, IT'S 5423 03:15:54,553 --> 03:15:55,887 INTERESTING BECAUSE IT'S LIKE, 5424 03:15:55,887 --> 03:15:58,257 IT'S A LOT OF HURRY UP AND WAIT, 5425 03:15:58,257 --> 03:15:59,992 THE INFUSION TAKES A WHILE, 5426 03:15:59,992 --> 03:16:00,993 YOU'RE SORT OF SITTING THERE, 5427 03:16:00,993 --> 03:16:02,261 YOU'RE CONCERNED THAT YOUR CHILD 5428 03:16:02,261 --> 03:16:05,130 IS GOING TO, AGAIN, COMPLY AND 5429 03:16:05,130 --> 03:16:06,531 LET THE IV BE PLACED, STAY 5430 03:16:06,531 --> 03:16:08,600 STILL, ALL THOSE THINGS. 5431 03:16:08,600 --> 03:16:11,970 AND SO THERE WAS A LOT OF NERVES 5432 03:16:11,970 --> 03:16:12,738 AND EXCITEMENT. 5433 03:16:12,738 --> 03:16:14,773 I'LL JUST SAY I TOOK A VERY SORT 5434 03:16:14,773 --> 03:16:17,909 OF ANALYTICAL APPROACH TO 5435 03:16:17,909 --> 03:16:18,910 SETTING UP FOR THE TRIAL, BUT AT 5436 03:16:18,910 --> 03:16:20,879 THE END OF THE DAY, I WAS A MOM 5437 03:16:20,879 --> 03:16:24,616 WORRIED ABOUT MY KID, WORRIED 5438 03:16:24,616 --> 03:16:26,652 HOW IS HE GOING TO HAVE SIDE 5439 03:16:26,652 --> 03:16:29,254 EFFECTS, IS HE GOING TO HAVE ANY 5440 03:16:29,254 --> 03:16:29,921 SIGNS. 5441 03:16:29,921 --> 03:16:31,690 IT WAS A DOUBLE BLIND PLACEBO 5442 03:16:31,690 --> 03:16:36,361 CONTROLLED TRIAL, SO IS IT GOING 5443 03:16:36,361 --> 03:16:42,367 TO BE CLEAR TO US IF HE'S GOT 5444 03:16:42,367 --> 03:16:44,102 GOTTEN -- SO NO MATTER HOW MUCH 5445 03:16:44,102 --> 03:16:46,104 SORT OF RATIONALIZE IT AND THINK 5446 03:16:46,104 --> 03:16:47,572 IT'S THE RIGHT DECISION, IT'S 5447 03:16:47,572 --> 03:16:48,774 NOT ASPIRIN, RIGHT? 5448 03:16:48,774 --> 03:16:49,808 SO YOU'RE LIKE -- YOU'RE STILL 5449 03:16:49,808 --> 03:16:50,208 WATCHING IT. 5450 03:16:50,208 --> 03:16:51,543 BUT I WILL SAY THE MOMENT WHEN I 5451 03:16:51,543 --> 03:16:53,011 WAS SITTING THERE WATCHES THE 5452 03:16:53,011 --> 03:16:54,279 INFUSION GET IN, WHETHER IT WAS 5453 03:16:54,279 --> 03:16:56,948 WRONG OR NOT, I JUST GET LIKE 5454 03:16:56,948 --> 03:16:58,717 SOMETHING'S ON BOARD NOW THAT 5455 03:16:58,717 --> 03:17:00,319 IT'S GOING TO SLOW THE 5456 03:17:00,319 --> 03:17:00,986 PROGRESSION OF THE DISEASE THAT 5457 03:17:00,986 --> 03:17:02,521 WE KNOW OTHERWISE WOULD JUST 5458 03:17:02,521 --> 03:17:04,489 TAKE AWAY ABILITIES STEP BY 5459 03:17:04,489 --> 03:17:05,190 STEP, IT WAS REALLY THE FIRST 5460 03:17:05,190 --> 03:17:06,725 TIME I FELT LIKE I COULD EXHALE, 5461 03:17:06,725 --> 03:17:07,926 LIKE OKAY, I'VE DONE EVERYTHING 5462 03:17:07,926 --> 03:17:10,162 I CAN TO THIS MOMENT TO, LIKE, 5463 03:17:10,162 --> 03:17:13,598 HELP MY SON. 5464 03:17:13,598 --> 03:17:15,500 >> AND HOW DO YOU THINK THE 5465 03:17:15,500 --> 03:17:17,102 TREATMENT HAS AFFECTED HIS 5466 03:17:17,102 --> 03:17:17,769 ABILITIES? 5467 03:17:17,769 --> 03:17:19,237 HOW IS HE DOING NOW? 5468 03:17:19,237 --> 03:17:21,239 >> SO WE'VE DEFINITELY NOTICED 5469 03:17:21,239 --> 03:17:23,075 SOME IMPROVEMENTS WITH HIM. 5470 03:17:23,075 --> 03:17:25,344 I WOULD SAY MOST NOTABLY, HE NO 5471 03:17:25,344 --> 03:17:28,547 LONGER HAS THE GAWER SIGN, WHICH 5472 03:17:28,547 --> 03:17:30,248 TO ME, THAT'S LIKE THE HALLMARK 5473 03:17:30,248 --> 03:17:32,384 SYMPTOM OF DUCHENNE, IS THAT 5474 03:17:32,384 --> 03:17:33,452 SORT OF ASSISTING YOURSELF AS 5475 03:17:33,452 --> 03:17:35,187 YOU GET UP OFF THE FLOOR. 5476 03:17:35,187 --> 03:17:40,992 HIS MOVEMENTS SEEM MORE FLUID. 5477 03:17:40,992 --> 03:17:42,794 IT'S HARDER TO TELL I THINK HE 5478 03:17:42,794 --> 03:17:44,663 HAS DUCHENNE WHEN YOU WATCH HIM. 5479 03:17:44,663 --> 03:17:45,464 CLEARLY WITH PEERS, YOU WOULD 5480 03:17:45,464 --> 03:17:46,631 NOTICE SOMETHING IS A LITTLE 5481 03:17:46,631 --> 03:17:48,133 OFF, BUT STAIRS ARE EASIER, I 5482 03:17:48,133 --> 03:17:49,768 WOULD JUST SAY DAILY LIFE IS A 5483 03:17:49,768 --> 03:17:52,204 LITTLE BIT EASIER. 5484 03:17:52,204 --> 03:17:54,206 BUT AT THE SAME TIME, WE HAVE TO 5485 03:17:54,206 --> 03:17:56,007 BALANCE THAT HOPE AND OPTIMISM 5486 03:17:56,007 --> 03:17:57,376 AND RELIEF WITH, YOU KNOW, THE 5487 03:17:57,376 --> 03:17:59,444 FACT THAT HE STILL HAS DUCHENNE 5488 03:17:59,444 --> 03:18:01,246 AND WE JUST DON'T KNOW HOW LONG 5489 03:18:01,246 --> 03:18:03,749 THIS WILL LAST, YOU KNOW, 5490 03:18:03,749 --> 03:18:06,752 WHETHER WE CAN ALLOW HIM TO DO 5491 03:18:06,752 --> 03:18:09,554 MORE THINGS THAT HE WANTS TO DO. 5492 03:18:09,554 --> 03:18:11,957 I THINK CRYSTAL -- DR. CRYSTAL 5493 03:18:11,957 --> 03:18:13,925 PROUD IN HER TESTIMONY TALKED 5494 03:18:13,925 --> 03:18:15,961 ABOUT THE FACT THAT HER 5495 03:18:15,961 --> 03:18:19,131 SPAISHPATIENTS, SHE NOW HAS TO E 5496 03:18:19,131 --> 03:18:19,798 ABOUT BIKE SAFETY. 5497 03:18:19,798 --> 03:18:20,899 THAT WAS NOT A THING WITH 5498 03:18:20,899 --> 03:18:21,900 DUCHENNE BOYS BEFORE. 5499 03:18:21,900 --> 03:18:23,802 SO IT'S THE SAME THING IT'S SORT 5500 03:18:23,802 --> 03:18:25,404 OF LIKE AS A PARENT, DO WE ALLOW 5501 03:18:25,404 --> 03:18:26,872 HIM TO DO THE THINGS HE WANT TO 5502 03:18:26,872 --> 03:18:28,039 DO AND CAN DO, KNOWING THAT THAT 5503 03:18:28,039 --> 03:18:30,742 MUSCLE IS STILL BREAKING DOWN. 5504 03:18:30,742 --> 03:18:31,943 THERE WAS DEFINITELY A MOMENT 5505 03:18:31,943 --> 03:18:33,111 THIS WEEK WHERE HE WAS 5506 03:18:33,111 --> 03:18:36,515 PARTICIPATING IN AN AFTER-SCHOOL 5507 03:18:36,515 --> 03:18:37,349 PROGRAM WHERE, YOU KNOW, AT THE 5508 03:18:37,349 --> 03:18:42,654 END OF IT, HE WAS DRAGGING -- 5509 03:18:42,654 --> 03:18:43,822 ESSENTIALLY CRAWLING UP AN 5510 03:18:43,822 --> 03:18:44,489 INCLINE. 5511 03:18:44,489 --> 03:18:45,891 SO HE STILL HAS DUCHENNE, SO 5512 03:18:45,891 --> 03:18:47,392 IT'S DEFINITELY A BALL ARRANGES 5513 03:18:47,392 --> 03:18:51,430 KBALANCE, AS WEAND ALL THE EXPES 5514 03:18:51,430 --> 03:18:53,031 WILL NOT LAST FOREVER, IT'S 5515 03:18:53,031 --> 03:18:53,765 DEFINITELY A RELIEF IN THE 5516 03:18:53,765 --> 03:18:55,567 MOMENT BUT ALSO A WHAT'S NEXT 5517 03:18:55,567 --> 03:18:57,169 KIND OF MENTALITY OF LIKE WE'RE 5518 03:18:57,169 --> 03:19:01,440 LOOKING TO HOW DO WE TAKE THIS 5519 03:19:01,440 --> 03:19:04,176 AMAZING VICTORY AND LEVERAGE TO 5520 03:19:04,176 --> 03:19:06,044 HOPEFULLY CREATE A LONG-TERM 5521 03:19:06,044 --> 03:19:07,979 SOLUTION FOR HIM. 5522 03:19:07,979 --> 03:19:10,382 >> SO WHAT WOULD YOU SAY -- 5523 03:19:10,382 --> 03:19:12,818 WE'VE GOT A LOT OF RESEARCHERS 5524 03:19:12,818 --> 03:19:16,054 ON THIS CALL TODAY, AND WHAT 5525 03:19:16,054 --> 03:19:17,522 WOULD YOU WANT TO SAY TO THE 5526 03:19:17,522 --> 03:19:18,156 RESEARCHERS WHO CONTRIBUTED TO 5527 03:19:18,156 --> 03:19:19,791 THE DEVELOPMENT OF THIS 5528 03:19:19,791 --> 03:19:20,659 TREATMENT? 5529 03:19:20,659 --> 03:19:23,328 YOU KNOW, THE TEAMS CONDUCT THE 5530 03:19:23,328 --> 03:19:23,595 TRIALS? 5531 03:19:23,595 --> 03:19:24,062 >> YEAH. 5532 03:19:24,062 --> 03:19:28,099 I WOULD DEFINITELY LEA LEAD WITH 5533 03:19:28,099 --> 03:19:28,366 GRATITUDE. 5534 03:19:28,366 --> 03:19:30,669 AS A PARENT, IT IS -- IT'S FUNNY 5535 03:19:30,669 --> 03:19:32,804 BECAUSE WHEN YOU GET DIAGNOSED, 5536 03:19:32,804 --> 03:19:34,506 YOU'RE LIKE OKAY, I NEED TO FIX 5537 03:19:34,506 --> 03:19:36,441 THIS, I ALONE WILL FIX THIS, I 5538 03:19:36,441 --> 03:19:37,776 WILL, YOU KNOW, DO ALL THE 5539 03:19:37,776 --> 03:19:39,411 THINGS TO MAKE IT POSSIBLE. 5540 03:19:39,411 --> 03:19:40,111 AND THEN YOU REALIZE, WELL, 5541 03:19:40,111 --> 03:19:41,346 THAT'S NOT GOING TO HAPPEN, AND 5542 03:19:41,346 --> 03:19:43,915 THEN YOU JUST SORT OF REALIZE 5543 03:19:43,915 --> 03:19:47,018 THAT THERE ARE SO MANY SMART 5544 03:19:47,018 --> 03:19:48,320 MINDS WORKING ON THIS PROBLEM, 5545 03:19:48,320 --> 03:19:49,454 SO MANY SCIENTISTS AND OTHERS 5546 03:19:49,454 --> 03:19:51,556 WHO ARE, LIKE, COMPLETELY 5547 03:19:51,556 --> 03:19:56,695 DEVOTED TO SOLVING DUCHENNE, IT 5548 03:19:56,695 --> 03:19:57,796 JUST A -- YOU FEEL LIKE YOU CAN 5549 03:19:57,796 --> 03:20:00,532 LET OFF THE GAS A LITTLE AND 5550 03:20:00,532 --> 03:20:02,868 SAY, OKAY, HELP IS ON THE WAY. 5551 03:20:02,868 --> 03:20:04,369 SO THAT'S JUST SUCH A RELIEF, 5552 03:20:04,369 --> 03:20:05,370 BUT AT THE SAME TIME AS I SAID 5553 03:20:05,370 --> 03:20:08,607 BEFORE, YOU KNOW, WE KNOW THIS 5554 03:20:08,607 --> 03:20:10,909 ISN'T A CURE SO I WOULD SAY KEEP 5555 03:20:10,909 --> 03:20:12,177 GOING, PLEASE. 5556 03:20:12,177 --> 03:20:13,678 THERE ARE OTHER THINGS IN THE 5557 03:20:13,678 --> 03:20:14,980 PIPELINE THAT WE'RE WATCHING AND 5558 03:20:14,980 --> 03:20:18,750 HOPEFUL ABOUT, AND THIS IS AN 5559 03:20:18,750 --> 03:20:20,051 IMPORTANT CRITICAL FIRST STEP 5560 03:20:20,051 --> 03:20:21,119 AND WE'RE JUST HOPEFUL THAT IT 5561 03:20:21,119 --> 03:20:23,989 SORT OF SNOWBALLS INTO A 5562 03:20:23,989 --> 03:20:24,990 LONGER-TERM SOLUTION. 5563 03:20:24,990 --> 03:20:26,925 YOU KNOW, IT'S STRANGE AS A 5564 03:20:26,925 --> 03:20:29,394 PARENT ADVOCATE TO BE SORT OF 5565 03:20:29,394 --> 03:20:31,696 OUT THERE SAYING THIS IS 5566 03:20:31,696 --> 03:20:33,298 WONDERFUL, WE'RE SO GRATEFUL, 5567 03:20:33,298 --> 03:20:34,900 BUT AT THE SAME TIME, YOU KNOW, 5568 03:20:34,900 --> 03:20:38,270 WE ALSO KNOW IT'S NOT A CURE. 5569 03:20:38,270 --> 03:20:39,871 BUT THE THINGS THAT WE'RE SEEING 5570 03:20:39,871 --> 03:20:42,173 DAY TO DAY ARE MEANINGFUL, SO IT 5571 03:20:42,173 --> 03:20:45,043 JUST SHOWS HOW LITTLE -- HOW FEW 5572 03:20:45,043 --> 03:20:46,111 OPTIONS WE'VE HAD BEFORE THIS 5573 03:20:46,111 --> 03:20:50,048 MOMENT THAT WE'RE SO 5574 03:20:50,048 --> 03:20:51,049 TREMENDOUSLY GRATEFUL FOR A 5575 03:20:51,049 --> 03:20:52,284 SOLUTION, BUT AT THE SAME TIME 5576 03:20:52,284 --> 03:20:53,618 RECOGNIZING THAT WE NEED MORE 5577 03:20:53,618 --> 03:20:56,421 SOLUTIONS TO GET TO THE POINT 5578 03:20:56,421 --> 03:20:57,923 WHERE THE DISEASE IS COMPLETELY 5579 03:20:57,923 --> 03:21:00,825 TRANSFORMED. 5580 03:21:00,825 --> 03:21:03,495 >> SO WHAT ARE YOUR THOUGHTS ON 5581 03:21:03,495 --> 03:21:05,397 HOW AN APPROVAL OF GENE THERAPY, 5582 03:21:05,397 --> 03:21:06,965 YOU KNOW, YOU TALKED A LITTLE 5583 03:21:06,965 --> 03:21:08,533 BIT HOW IT AFFECT YOUR FAMILY. 5584 03:21:08,533 --> 03:21:10,635 HOW DO YOU THINK -- HOW DO YOU 5585 03:21:10,635 --> 03:21:12,370 THINK IT AFFECTS OTHER FAMILIES 5586 03:21:12,370 --> 03:21:15,240 WITH DUCHENNE OR THE DUCHENNE 5587 03:21:15,240 --> 03:21:16,608 COMMUNITY AT LARGE? 5588 03:21:16,608 --> 03:21:21,212 >> I MEAN, I THINK IT STARTS 5589 03:21:21,212 --> 03:21:22,280 WITH THE ACCESS TO THE TRIALS. 5590 03:21:22,280 --> 03:21:24,983 AS I MENTIONED, IT'S PRETTY HARD 5591 03:21:24,983 --> 03:21:27,052 TO -- YOU HAVE TO BE VERY 5592 03:21:27,052 --> 03:21:31,990 PROACTIVE AS A PARENT TO FIND AN 5593 03:21:31,990 --> 03:21:33,291 OPPORTUNITY TO PARTICIPATE IN 5594 03:21:33,291 --> 03:21:33,625 SUCH A TRIAL. 5595 03:21:33,625 --> 03:21:37,095 I THINK THAT, YOU KNOW, IN 5596 03:21:37,095 --> 03:21:38,129 REALTIME, IT AFFECTS THE WHOLE 5597 03:21:38,129 --> 03:21:40,065 FAMILY AND, AS I MENTIONED, THE 5598 03:21:40,065 --> 03:21:41,566 LACK OF AVAILABLE HOME NURSES, 5599 03:21:41,566 --> 03:21:43,001 THE FIRST YEAR OF THE TRIAL, WAS 5600 03:21:43,001 --> 03:21:47,305 REALLY CHALLENGING, AND WE ALSO 5601 03:21:47,305 --> 03:21:50,709 FOUND THAT A CHILD LIFE EXPERT 5602 03:21:50,709 --> 03:21:52,243 AVAILABLE TO CHARLIE DURING HIS 5603 03:21:52,243 --> 03:21:53,945 TREATMENT, DURING HIS TESTING, 5604 03:21:53,945 --> 03:21:54,813 DURING ANY KIND OF MEDICAL 5605 03:21:54,813 --> 03:21:56,715 INTERVENTION WAS REALLY HELPFUL. 5606 03:21:56,715 --> 03:21:59,751 BUT WE HAVE TO FIGHT FOR THAT, 5607 03:21:59,751 --> 03:22:01,286 ONLY BECAUSE THE STRUCTURE OF A 5608 03:22:01,286 --> 03:22:03,088 CLINICAL TRIAL IS VERY FIXED AND 5609 03:22:03,088 --> 03:22:05,223 DOESN'T SORT OF ALLOW FOR, LIKE, 5610 03:22:05,223 --> 03:22:06,491 THE SUPPLEMENTAL THINGS THAT 5611 03:22:06,491 --> 03:22:07,993 MIGHT MAKE IT EASIER FOR 5612 03:22:07,993 --> 03:22:09,127 PATIENTS AND FAMILIES TO 5613 03:22:09,127 --> 03:22:10,562 PARTICIPATE, WE ULTIMATELY WERE 5614 03:22:10,562 --> 03:22:11,329 ABLE TO GET THAT YOU IS PORT, 5615 03:22:11,329 --> 03:22:16,468 WHICH WE'RE SUPER GRATEFUL FOR. 5616 03:22:16,468 --> 03:22:19,537 AND THE OTHER THING I'LL JUST 5617 03:22:19,537 --> 03:22:21,973 SAY IS THAT AS CELEBRATORY WE 5618 03:22:21,973 --> 03:22:23,008 ARE ABOUT THE LIMITED APPROVAL 5619 03:22:23,008 --> 03:22:24,142 RIGHT NOW OF THE DRUG, YOU KNOW, 5620 03:22:24,142 --> 03:22:25,543 THERE ARE OTHER FAMILIES WHO ARE 5621 03:22:25,543 --> 03:22:32,384 STILL WAITING. 5622 03:22:32,384 --> 03:22:35,820 SO IT'S STILL SORT OF A MURKY 5623 03:22:35,820 --> 03:22:37,022 TIME I THINK IN THE FAMILY 5624 03:22:37,022 --> 03:22:38,690 LANDSCAPE IN TERMS OF LAKE SOME 5625 03:22:38,690 --> 03:22:41,559 OF US HAVE HAD ACCESS TO THE 5626 03:22:41,559 --> 03:22:42,861 TRIAL AND SOME OF US ARE STILL 5627 03:22:42,861 --> 03:22:44,729 WAITING SO IT'S A HOPEFUL TIME 5628 03:22:44,729 --> 03:22:45,997 BUT IT'S STILL A RECOGNITION WE 5629 03:22:45,997 --> 03:22:46,498 NEED MORE HELP. 5630 03:22:46,498 --> 03:22:48,299 >> WE TALK ABOUT IT ALL THE 5631 03:22:48,299 --> 03:22:50,402 TIME, THAT THERE'S ALREADY BEEN 5632 03:22:50,402 --> 03:22:51,469 SOME YEARS OF WHAT WE CALL THE 5633 03:22:51,469 --> 03:22:55,106 HAVES AND HAVE-NOTS, RIGHT, THE 5634 03:22:55,106 --> 03:22:56,408 EXON SKIPPING, INDIVIDUALS WITH 5635 03:22:56,408 --> 03:22:57,275 THOSE MUTATIONS AMENABLE TO 5636 03:22:57,275 --> 03:22:59,477 THOSE HAVING MORE OPPORTUNITIES, 5637 03:22:59,477 --> 03:23:01,713 AND NOW IT'S BEING EXTENDED, 5638 03:23:01,713 --> 03:23:02,947 RIGHT, WITH GENE THERAPY AND IT 5639 03:23:02,947 --> 03:23:06,685 GOING TO BE A REALLY -- IT'S A 5640 03:23:06,685 --> 03:23:09,020 PROMISING TIME, ALL OF THESE ARE 5641 03:23:09,020 --> 03:23:10,088 ADVANCES, BUT ALSO A CHALLENGING 5642 03:23:10,088 --> 03:23:11,122 TIME BECAUSE THERE'S GOING TO BE 5643 03:23:11,122 --> 03:23:12,190 SO MANY INDIVIDUALS LIVING WITH 5644 03:23:12,190 --> 03:23:14,893 THE DISEASE WHO ARE STILL 5645 03:23:14,893 --> 03:23:15,960 WAITING FOR US TO DO BETTER. 5646 03:23:15,960 --> 03:23:18,630 >> RIGHT. 5647 03:23:18,630 --> 03:23:19,464 ABSOLUTELY. 5648 03:23:19,464 --> 03:23:21,700 AND WE SORT OF NEED THAT 5649 03:23:21,700 --> 03:23:22,767 MOMENTUM, I THINK, TO REALLY 5650 03:23:22,767 --> 03:23:23,368 TRANSFORM. 5651 03:23:23,368 --> 03:23:24,536 THIS IS SUCH AN IMPORTANT FIRST 5652 03:23:24,536 --> 03:23:28,807 STEP AND NOW HE WITH NEED TO WEF 5653 03:23:28,807 --> 03:23:29,407 JUST CAPITALIZE ON IT. 5654 03:23:29,407 --> 03:23:29,941 >> EXACTLY. 5655 03:23:29,941 --> 03:23:34,612 WE'RE BUYING TIME AND WE STILL 5656 03:23:34,612 --> 03:23:36,114 NEED BETTER TRANSFORMATIVE 5657 03:23:36,114 --> 03:23:37,282 THERAPIES TO COME ALONG FOR MORE 5658 03:23:37,282 --> 03:23:37,582 INDIVIDUALS. 5659 03:23:37,582 --> 03:23:39,084 >> MM-HMM. 5660 03:23:39,084 --> 03:23:39,350 FOR SURE. 5661 03:23:39,350 --> 03:23:40,885 >> SO YOU KNOW, DO YOU HAVE ANY 5662 03:23:40,885 --> 03:23:42,120 OTHER THOUGHTS THAT YOU'D LIKE 5663 03:23:42,120 --> 03:23:45,023 TO SHARE WITH THE GROUP IN TERMS 5664 03:23:45,023 --> 03:23:48,493 OF NEEDS OR OPPORTUNITIES TO 5665 03:23:48,493 --> 03:23:49,994 HELP THE LIVES OF INDIVIDUALS 5666 03:23:49,994 --> 03:23:52,163 AND FAMILIES LIVING WITH 5667 03:23:52,163 --> 03:23:52,731 DUCHENNE? 5668 03:23:52,731 --> 03:23:53,098 >> I DO. 5669 03:23:53,098 --> 03:23:55,500 THANK YOU FOR ASKING THAT. 5670 03:23:55,500 --> 03:23:58,937 SO ONE OF THE ISSUES THAT I SEE 5671 03:23:58,937 --> 03:24:00,905 IS THE LACK OF SORT OF 5672 03:24:00,905 --> 03:24:03,374 SUBSPECIALISTS WHO ARE FOCUSED 5673 03:24:03,374 --> 03:24:05,577 ON DUCHENNE'S PERVASIVE IMPACT 5674 03:24:05,577 --> 03:24:07,812 ON A PATIENT AND A FAMILY. 5675 03:24:07,812 --> 03:24:09,848 I WAS SO HEARTENED TO SEE THAT 5676 03:24:09,848 --> 03:24:14,986 PPMD IS WORKING -- AND I'M SURE 5677 03:24:14,986 --> 03:24:16,454 CURE DUCHENNE IS AS WELL ON THE 5678 03:24:16,454 --> 03:24:18,022 CARDIAC ISSUES, THERE'S SO MUCH 5679 03:24:18,022 --> 03:24:20,391 WE DON'T UNDERSTAND STILL ABOUT 5680 03:24:20,391 --> 03:24:24,362 THE MECHANISMS OF THE CARDIAC 5681 03:24:24,362 --> 03:24:26,931 DECLINE IN DUCHENNE, EITHER HOW 5682 03:24:26,931 --> 03:24:27,966 THE TREATMENTS EITHER HERE OR ON 5683 03:24:27,966 --> 03:24:29,467 THE HORIZON CAN ADDRESS THOSE, 5684 03:24:29,467 --> 03:24:30,869 BUT THERE'S ALSO THE BEHAVIORAL 5685 03:24:30,869 --> 03:24:31,936 ISSUES OF DUCHENNE. 5686 03:24:31,936 --> 03:24:33,271 SO LIKE PEOPLE -- I TALK TO A 5687 03:24:33,271 --> 03:24:34,305 LOT OF FRIENDS AND OTHER 5688 03:24:34,305 --> 03:24:35,807 FAMILIES WHO ARE LIKE, OH, 5689 03:24:35,807 --> 03:24:37,108 PEOPLE JUST THINK IT'S LIKE YOUR 5690 03:24:37,108 --> 03:24:38,510 SON CAN OR CAN'T WALK. 5691 03:24:38,510 --> 03:24:40,779 IT'S LIKE SO MUCH MORE THAN 5692 03:24:40,779 --> 03:24:43,148 THAT. 5693 03:24:43,148 --> 03:24:45,450 BECAUSE DYSTROPHIN ACTS ON THE 5694 03:24:45,450 --> 03:24:47,452 BRAIN, THERE ARE SO MANY 5695 03:24:47,452 --> 03:24:48,586 ACKNOWLEDGED CONDITIONS THAT CAN 5696 03:24:48,586 --> 03:24:52,090 BE CO-MORBID ITS WITH DUCHENNE, 5697 03:24:52,090 --> 03:24:53,458 ADHD, AUTISM, LEARNING 5698 03:24:53,458 --> 03:24:56,361 DIFFERENCES, OCD AND FIXED 5699 03:24:56,361 --> 03:24:57,896 BEHAVIOR THAT MANIFEST EVERY 5700 03:24:57,896 --> 03:24:58,163 DAY. 5701 03:24:58,163 --> 03:24:59,898 THERE WAS JUST A FACEBOOK THIS 5702 03:24:59,898 --> 03:25:02,400 WEEK ON ONE OF THE DUCHENNE 5703 03:25:02,400 --> 03:25:03,935 BOARDS ABOUT PANTS AND HOW OUR 5704 03:25:03,935 --> 03:25:05,370 BOYS HAVE SENSORY ISSUES, THEY 5705 03:25:05,370 --> 03:25:06,638 DON'T WANT TO WEAR CERTAIN TYPES 5706 03:25:06,638 --> 03:25:08,006 OF PANTS SO WE'RE ALL TRYING TO 5707 03:25:08,006 --> 03:25:09,507 FIGURE OUT WHAT TYPES OF PANTS 5708 03:25:09,507 --> 03:25:11,509 OUR BOYS WILL WEAR EVERY DAY. 5709 03:25:11,509 --> 03:25:14,913 THAT SPHUF RE STUFF REALLY ACCUS 5710 03:25:14,913 --> 03:25:15,613 AND AFFECT A FAMILY. 5711 03:25:15,613 --> 03:25:17,916 WE HAD A PARTICULARLY TOUGH TIME 5712 03:25:17,916 --> 03:25:19,450 WITH CHARLIE WITH SOME OF HIS 5713 03:25:19,450 --> 03:25:21,920 FIXED BEHAVIORS THIS WEEK. 5714 03:25:21,920 --> 03:25:24,522 SO TO ME, THERE'S A NEED TO 5715 03:25:24,522 --> 03:25:27,625 CONSIDER THE HOLISTIC IMPACT OF 5716 03:25:27,625 --> 03:25:28,393 DUCHENNE ON A FAMILY. 5717 03:25:28,393 --> 03:25:31,095 I KNOW OF ONE EXPERT AT 5718 03:25:31,095 --> 03:25:32,730 NATIONWIDE WHO'S AMAZING, WHO 5719 03:25:32,730 --> 03:25:34,966 SPECIALIZES IN DUCHENNE 5720 03:25:34,966 --> 03:25:36,067 BEHAVIORS, BUT WE NEED MORE OF 5721 03:25:36,067 --> 03:25:36,367 THOSE. 5722 03:25:36,367 --> 03:25:39,637 WE NEED MORE THAN HERE'S THE 5723 03:25:39,637 --> 03:25:41,172 DIAGNOSIS, IT AFFECTS YOUR 5724 03:25:41,172 --> 03:25:42,207 CHILD'S BRAIN, AND ALSO WE'RE 5725 03:25:42,207 --> 03:25:44,375 GOING TO PUT YOUR CHILD ON DAILY 5726 03:25:44,375 --> 03:25:45,510 STEROIDS, WHICH WILL FURTHER 5727 03:25:45,510 --> 03:25:48,947 AFFECT YOUR CHILD'S BEHAVIOR, 5728 03:25:48,947 --> 03:25:50,448 BUT YOU DON'T -- WE CAN'T OFFER 5729 03:25:50,448 --> 03:25:52,383 YOU ANY HELP. 5730 03:25:52,383 --> 03:25:55,587 YOU KNOW, EVERY PARENT, I THINK, 5731 03:25:55,587 --> 03:25:57,088 FEELS LIKE I COULD REALLY USE AN 5732 03:25:57,088 --> 03:25:57,956 OWNER'S MANUAL WHETHER IT COMES 5733 03:25:57,956 --> 03:26:01,392 TO HAVING A BABY WITH DUCHENNE, 5734 03:26:01,392 --> 03:26:03,027 IT'S A THOUSAND TIMES MORE. 5735 03:26:03,027 --> 03:26:05,096 YOU NEED SOME GUIDANCE AND SOME 5736 03:26:05,096 --> 03:26:07,832 SUPPORT TO DEAL WITH SORT OF THE 5737 03:26:07,832 --> 03:26:10,134 DAILY IMPACT. 5738 03:26:10,134 --> 03:26:11,502 SO THAT'S JUST ONE -- THAT'S ONE 5739 03:26:11,502 --> 03:26:16,474 SORT OF OTHER AREA BEYOND 5740 03:26:16,474 --> 03:26:17,842 MOBILITY WHERE DUCHENNE HAS AN 5741 03:26:17,842 --> 03:26:18,643 IMPACT. 5742 03:26:18,643 --> 03:26:19,310 WE JUST MOVED TO A NEW HOUSE 5743 03:26:19,310 --> 03:26:20,345 BECAUSE WE WOULD ESSENTIALLY 5744 03:26:20,345 --> 03:26:22,714 HAVE TO HAVE REBUILT THE OTHER 5745 03:26:22,714 --> 03:26:25,450 HOUSE THAT WE WERE IN TO 5746 03:26:25,450 --> 03:26:26,484 ACCOMMODATE CHARLIE'S FUTURE 5747 03:26:26,484 --> 03:26:27,719 NEEDS AND WE JUST DIDN'T WANT TO 5748 03:26:27,719 --> 03:26:29,654 LIVE IN LIMBO ANYMORE, SO WE 5749 03:26:29,654 --> 03:26:30,855 MOVED. 5750 03:26:30,855 --> 03:26:32,657 THE STANDARDS OF CARE, I THINK 5751 03:26:32,657 --> 03:26:36,895 ARE A REAL POINT OF PRIORITY 5752 03:26:36,895 --> 03:26:38,529 THAT SHOULD BE LOOKED AT. 5753 03:26:38,529 --> 03:26:42,300 I THINK THAT WE'RE REALLY AT A 5754 03:26:42,300 --> 03:26:43,134 PIVOT POINT WHERE GENE THERAPY 5755 03:26:43,134 --> 03:26:46,738 IS NOW A THING AND I JUST FEEL 5756 03:26:46,738 --> 03:26:48,907 LIKE THERE NEEDS TO BE CONSENSUS 5757 03:26:48,907 --> 03:26:51,075 AROUND STANDARDS OF CARE, 5758 03:26:51,075 --> 03:26:56,281 ESPECIALLY FOR KID O KIDDOS WHOE 5759 03:26:56,281 --> 03:26:57,382 HAD THE GENE THERAPY, ARE WE 5760 03:26:57,382 --> 03:26:58,549 SWITCHING, ARE WE ABLE TO MOVE 5761 03:26:58,549 --> 03:27:00,184 ON FROM STEROIDS, THERE'S 5762 03:27:00,184 --> 03:27:01,319 ALREADY KIND OF A SPLIT IN TERMS 5763 03:27:01,319 --> 03:27:03,988 OF HOW PROVIDERS CONSIDER 5764 03:27:03,988 --> 03:27:07,091 STEROIDS AND REGIMENS. 5765 03:27:07,091 --> 03:27:08,426 >> YOU KNOW, JUST ON THAT -- 5766 03:27:08,426 --> 03:27:09,560 >> LIKE I SAID -- WHAT'S THAT? 5767 03:27:09,560 --> 03:27:11,162 >> ON THAT POINT, I KNOW GLEN 5768 03:27:11,162 --> 03:27:16,501 HAS ORGANIZED TOPICS AROUND -- 5769 03:27:16,501 --> 03:27:17,435 FOR THIS MEETING AROUND 5770 03:27:17,435 --> 03:27:18,870 REGISTRIES, AND I JUST THINK 5771 03:27:18,870 --> 03:27:20,571 THAT THAT KIND OF REAL WORLD 5772 03:27:20,571 --> 03:27:23,875 DATA IS GOING TO BE SO IMPORTANT 5773 03:27:23,875 --> 03:27:24,642 GOING FORWARD, AS WE HAVE 5774 03:27:24,642 --> 03:27:25,944 INDIVIDUAL, RIGHT, ON DIFFERENT 5775 03:27:25,944 --> 03:27:29,047 TYPES OF THERAPIES, AND SOME -- 5776 03:27:29,047 --> 03:27:30,548 JUST TAKING THE STEROID, SOME 5777 03:27:30,548 --> 03:27:31,950 GOING OFF STEROIDS, SOME NOT, 5778 03:27:31,950 --> 03:27:33,384 AND ACTUALLY CAPTURING ALL OF 5779 03:27:33,384 --> 03:27:35,253 THAT GOING FORWARD SO THAT WE 5780 03:27:35,253 --> 03:27:36,688 CAN HAVE EVIDENCE TO ACTUALLY 5781 03:27:36,688 --> 03:27:38,656 INFORM THESE STANDARDS OF CARE. 5782 03:27:38,656 --> 03:27:39,090 >> ABSOLUTELY. 5783 03:27:39,090 --> 03:27:41,559 AND I THINK COMBINATION TRIALS 5784 03:27:41,559 --> 03:27:44,862 ARE GOING TO BE IMPORTANT IN 5785 03:27:44,862 --> 03:27:46,064 TERMS OF WHAT'S COMING DOWN THE 5786 03:27:46,064 --> 03:27:47,832 PIKE FOR THESE BOYS, BOYS WHO 5787 03:27:47,832 --> 03:27:49,000 HAVE ALREADY HAD THE GENE 5788 03:27:49,000 --> 03:27:50,835 THERAPY, YOU KNOW, CONSIDERING 5789 03:27:50,835 --> 03:27:52,403 HAVING MULTIPLE THINGS ON BOARD, 5790 03:27:52,403 --> 03:27:54,238 AND THEN THE ACCESS ISSUE, YOU 5791 03:27:54,238 --> 03:27:56,975 KNOW, ONCE THESE THINGS ARE 5792 03:27:56,975 --> 03:27:58,977 APPROVED, ARE PAYORS GOING TO 5793 03:27:58,977 --> 03:28:01,446 ALLOW OUR BOYS TO BE DOSED. 5794 03:28:01,446 --> 03:28:02,747 WE KNOW FOR SURE THAT THERE'S 5795 03:28:02,747 --> 03:28:04,115 ALREADY SOME PUSHBACK IN TERMS 5796 03:28:04,115 --> 03:28:06,351 OF BOYS WHO ARE ON THE EXON 5797 03:28:06,351 --> 03:28:07,685 SKIPPER, HAVE THE GENE THERAPY, 5798 03:28:07,685 --> 03:28:10,188 CAN THEY GO BACK TO THE EXON 5799 03:28:10,188 --> 03:28:11,856 SKIPPER, SO THAT'S A HUGE 5800 03:28:11,856 --> 03:28:12,423 CONSIDERATION. 5801 03:28:12,423 --> 03:28:13,791 IT'S A FINANCIAL CONCERN FOR 5802 03:28:13,791 --> 03:28:15,126 FAMILIES. 5803 03:28:15,126 --> 03:28:16,995 AND THEN LASTLY, I WOULD JUST 5804 03:28:16,995 --> 03:28:18,730 SAY THE NEWBORN SCREENING ISSUE 5805 03:28:18,730 --> 03:28:19,297 IS SUPER IMPORTANT. 5806 03:28:19,297 --> 03:28:20,698 I KNOW THERE'S GOING TO BE 5807 03:28:20,698 --> 03:28:22,767 DISCUSSION LATER ABOUT THAT. 5808 03:28:22,767 --> 03:28:24,669 THERE'S SOME MOMENTUM BUILDING 5809 03:28:24,669 --> 03:28:25,436 STATES. 5810 03:28:25,436 --> 03:28:30,208 I THINK THAT RUSS ABSOLUTELY 5811 03:28:30,208 --> 03:28:32,076 NEEDS TO ADD THIS TO THEIR 5812 03:28:32,076 --> 03:28:33,044 UNIVERSAL RECOMMENDATIONS TO 5813 03:28:33,044 --> 03:28:35,279 REALLY GET THAT OUT THERE TO THE 5814 03:28:35,279 --> 03:28:35,646 50 STATES. 5815 03:28:35,646 --> 03:28:37,181 SO IT'S KIND OF AN INTERESTING 5816 03:28:37,181 --> 03:28:38,883 POINT TO BE COMING IN RELATIVELY 5817 03:28:38,883 --> 03:28:41,719 NEW AS A PARENT OF A BOY WITH 5818 03:28:41,719 --> 03:28:42,653 DUCHENNE WHERE THINGS ARE 5819 03:28:42,653 --> 03:28:43,521 CHANGING AND I JUST THINK 5820 03:28:43,521 --> 03:28:44,756 THERE'S A LOT OF ALIGNMENT THAT 5821 03:28:44,756 --> 03:28:47,425 NEEDS TO HAPPEN. 5822 03:28:47,425 --> 03:28:49,494 >> SO I MEAN, THIS IS -- I THINK 5823 03:28:49,494 --> 03:28:51,963 YOU SAID IT PERFECTLY, THAT, YOU 5824 03:28:51,963 --> 03:28:54,332 KNOW, WE HAVE SOME REALLY GOOD 5825 03:28:54,332 --> 03:28:55,967 PROGRESS, SOME REALLY STRONG 5826 03:28:55,967 --> 03:28:59,537 FOOTHOLD, BUT THE WORK IS NOT 5827 03:28:59,537 --> 03:29:01,839 DOB, RIGHT? 5828 03:29:01,839 --> 03:29:02,273 DONE, RIGHT? 5829 03:29:02,273 --> 03:29:03,775 WE'RE NOT TAKING OUR FOOT OFF 5830 03:29:03,775 --> 03:29:04,042 THE GAS. 5831 03:29:04,042 --> 03:29:05,009 I'M JUST KEEPING AN EYE ON THE 5832 03:29:05,009 --> 03:29:05,276 TIME. 5833 03:29:05,276 --> 03:29:06,477 I DON'T KNOW IF THIS IS A GOOD 5834 03:29:06,477 --> 03:29:09,280 TIME TO OPEN UP TO MORE GENERAL 5835 03:29:09,280 --> 03:29:10,515 QUESTIONS FROM EVERYONE 5836 03:29:10,515 --> 03:29:10,848 PARTICIPATING? 5837 03:29:10,848 --> 03:29:14,085 >> SO THIS IS REALLY AN 5838 03:29:14,085 --> 03:29:15,720 INCREDIBLE DISCUSSION. 5839 03:29:15,720 --> 03:29:20,391 IT'S SO IMPORTANT FOR US TO 5840 03:29:20,391 --> 03:29:20,591 HEAR. 5841 03:29:20,591 --> 03:29:22,326 GLEN, I'M GOING TO ASK YOU WHAT 5842 03:29:22,326 --> 03:29:23,661 YOU WANT TO DO IN TERMS OF 5843 03:29:23,661 --> 03:29:23,895 TIMING. 5844 03:29:23,895 --> 03:29:25,696 WE HAVE A VERY BUSY OF A NOON AS 5845 03:29:25,696 --> 03:29:26,264 WELL. 5846 03:29:26,264 --> 03:29:27,865 >> YEAH, I THINK WE MAY BE ABLE 5847 03:29:27,865 --> 03:29:28,566 TO PICK UP A LITTLE BIT OF TIME 5848 03:29:28,566 --> 03:29:29,300 THIS AFTERNOON. 5849 03:29:29,300 --> 03:29:30,568 I CERTAINLY DON'T WANT TO CUT 5850 03:29:30,568 --> 03:29:30,902 THIS OFF. 5851 03:29:30,902 --> 03:29:34,906 THIS IS FASCINATING, REALLY 5852 03:29:34,906 --> 03:29:36,874 APPRECIATE JENNIFER AND LIANNA'S 5853 03:29:36,874 --> 03:29:37,341 PARTICIPATION. 5854 03:29:37,341 --> 03:29:38,743 PERHAPS IF THERE ARE QUESTIONS 5855 03:29:38,743 --> 03:29:39,744 FROM THE COMMITTEE OR QUESTIONS 5856 03:29:39,744 --> 03:29:44,048 FROM THE AUDIENCE? 5857 03:29:44,048 --> 03:29:46,417 >> ANDY? 5858 03:29:46,417 --> 03:29:47,418 >> MAYBE THIS COMMENT IS 5859 03:29:47,418 --> 03:29:48,920 ACTUALLY FOR YOU, DR. BIANCHI. 5860 03:29:48,920 --> 03:29:51,689 WHEN WE THINK ABOUT THE PROGRESS 5861 03:29:51,689 --> 03:29:55,226 IN THE GENOMIC AREA, RIGHT, AND 5862 03:29:55,226 --> 03:29:56,928 THE ADVANCEMENT OF SHORT READ 5863 03:29:56,928 --> 03:29:58,362 SEQUENCING AND LONG READ 5864 03:29:58,362 --> 03:29:59,564 SEQUENCING, WOULDN'T IT BE TIME 5865 03:29:59,564 --> 03:30:01,632 FOR NIH TO STEP UP AND SAY, 5866 03:30:01,632 --> 03:30:03,734 OKAY, SIMILARLY TO 15 YEARS AGO, 5867 03:30:03,734 --> 03:30:05,636 WHEN MASS SPEC MADE AN ENTRANCE 5868 03:30:05,636 --> 03:30:08,473 INTO NEWBORN SCREENING, WE 5869 03:30:08,473 --> 03:30:13,611 REALLY PUSH THE THIRD ACCESS OF 5870 03:30:13,611 --> 03:30:16,380 SCREENING TECHNOLOGY. 5871 03:30:16,380 --> 03:30:18,015 WE COULD PICK UP THESE DISEASES 5872 03:30:18,015 --> 03:30:19,584 OR MAJORITY OF THESE DISEASE, WE 5873 03:30:19,584 --> 03:30:21,085 WOULD FEED IN REGISTRIES AND WE 5874 03:30:21,085 --> 03:30:22,019 WOULD REALLY HAVE THE NEXT 5875 03:30:22,019 --> 03:30:24,489 GENERATION, RIGHT, OF 5876 03:30:24,489 --> 03:30:27,458 PHARMACEUTICAL DEVELOPM DEVELOPT 5877 03:30:27,458 --> 03:30:28,793 WOULD FOLLOW QUITE NATURALLY. 5878 03:30:28,793 --> 03:30:30,461 >> I AGREE WITH YOU. 5879 03:30:30,461 --> 03:30:33,898 I KNOW THAT FOR SOME OF THE WORK 5880 03:30:33,898 --> 03:30:36,400 THAT WE'RE DOING IN MY OWN 5881 03:30:36,400 --> 03:30:40,738 RESEARCH LABORATORY, WO WE'VE BN 5882 03:30:40,738 --> 03:30:41,439 EXPLORING RESOURCES AVAILABLE TO 5883 03:30:41,439 --> 03:30:42,940 US IN LONG READ SEQUENCING. 5884 03:30:42,940 --> 03:30:43,708 IT'S STILL A LITTLE EARLY. 5885 03:30:43,708 --> 03:30:45,877 I MEAN, THERE OBVIOUSLY ARE 5886 03:30:45,877 --> 03:30:50,414 PEOPLE IN THE ACADEMIC WORLD WHO 5887 03:30:50,414 --> 03:30:52,250 ARE BECOMING EXPERT IN THE 5888 03:30:52,250 --> 03:30:52,683 TECHNOLOGY. 5889 03:30:52,683 --> 03:30:55,453 I DON'T KNOW THAT WE'RE QUITE 5890 03:30:55,453 --> 03:30:56,787 THERE YET. 5891 03:30:56,787 --> 03:31:00,191 IN TERMS OF RESOURCES AT THE NIH 5892 03:31:00,191 --> 03:31:01,459 ITSELF. 5893 03:31:01,459 --> 03:31:02,693 BUT I AGREE WITH YOU THRA IS 5894 03:31:02,693 --> 03:31:08,366 GOI, THAT ISTHE WAY GOING FORWAE 5895 03:31:08,366 --> 03:31:10,001 CAN PINPOINT SOME OF THESE 5896 03:31:10,001 --> 03:31:10,268 VARIANTS. 5897 03:31:10,268 --> 03:31:12,236 DR. CRISWELL. 5898 03:31:12,236 --> 03:31:12,870 >> THANK YOU. 5899 03:31:12,870 --> 03:31:15,606 I JUST WANTED TO THANK JENNIFER 5900 03:31:15,606 --> 03:31:18,109 AND LIANNA SO MUCH FOR SUCH AN 5901 03:31:18,109 --> 03:31:19,076 AMAZING SESSION. 5902 03:31:19,076 --> 03:31:20,912 I'M LOOKING UP TO CONFIRM THAT 5903 03:31:20,912 --> 03:31:22,513 THIS HAS BEEN RECORDED, THANK 5904 03:31:22,513 --> 03:31:23,281 GOODNESS. 5905 03:31:23,281 --> 03:31:24,849 THIS HAS BEEN REALLY SPECIAL. 5906 03:31:24,849 --> 03:31:26,584 THANK YOU SO MUCH FOR SHARING 5907 03:31:26,584 --> 03:31:28,386 YOUR EXPERIENCE, JENNIFER IN 5908 03:31:28,386 --> 03:31:28,686 PARTICULAR. 5909 03:31:28,686 --> 03:31:29,954 >> THANK YOU. 5910 03:31:29,954 --> 03:31:32,790 THANK YOU FOR THE OPPORTUNITY. 5911 03:31:32,790 --> 03:31:38,529 >> RA RAMONA. 5912 03:31:38,529 --> 03:31:39,197 >> THANK YOU VERY MUCH FOR THIS 5913 03:31:39,197 --> 03:31:39,597 TESTIMONY. 5914 03:31:39,597 --> 03:31:40,932 THIS IS REALLY IMPORTANT TO BE 5915 03:31:40,932 --> 03:31:42,633 HIGHLIGHTED AND REALLY HIGHLIGHT 5916 03:31:42,633 --> 03:31:43,801 THE IMPORTANCE OF PATIENT 5917 03:31:43,801 --> 03:31:44,335 FOCUSED DRUG DEVELOPMENT. 5918 03:31:44,335 --> 03:31:46,671 SO THE QUESTION I HAVE FOR 5919 03:31:46,671 --> 03:31:48,039 JENNIFER IS, IF YOU HAD TO GIVE 5920 03:31:48,039 --> 03:31:48,706 A SUGGESTION TO THE COMMUNITY OF 5921 03:31:48,706 --> 03:31:50,641 DRUG DEVELOPERS, WHAT WOULD BE 5922 03:31:50,641 --> 03:31:51,642 YOUR SUGGESTION TO OPTIMIZE 5923 03:31:51,642 --> 03:31:54,812 CLINICAL TRIAL DESIGN TO INCLUDE 5924 03:31:54,812 --> 03:31:56,581 ADVICE OF PATIENTS AND 5925 03:31:56,581 --> 03:31:59,850 CAREGIVERS IN TRIAL DESIGN? 5926 03:31:59,850 --> 03:32:00,851 >> THAT'S A GREAT QUESTION 5927 03:32:00,851 --> 03:32:02,420 BECAUSE LIKE I SAID, I FEEL LIKE 5928 03:32:02,420 --> 03:32:04,488 WE'RE AT SUCH A PIVOT POINT 5929 03:32:04,488 --> 03:32:05,623 WHERE THINGS ARE NOT AS THEY 5930 03:32:05,623 --> 03:32:06,023 WERE. 5931 03:32:06,023 --> 03:32:09,760 AND I THINK CONSIDERING END 5932 03:32:09,760 --> 03:32:11,963 POINTS BEYOND NSAA IS AN 5933 03:32:11,963 --> 03:32:12,430 IMPORTANT FIRST STEP. 5934 03:32:12,430 --> 03:32:15,499 I THINK THAT PLATFORM TRIALS AND 5935 03:32:15,499 --> 03:32:18,436 COMBINATION TRIALS ARE REALLY 5936 03:32:18,436 --> 03:32:19,437 IMPORTANT AT THIS POINT IN TIME. 5937 03:32:19,437 --> 03:32:21,672 YOU KNOW, I THINK THIS IS A 5938 03:32:21,672 --> 03:32:22,573 NON-SCIENTIFIC COMMENT BUT I 5939 03:32:22,573 --> 03:32:25,376 JUST THINK AS A COMMUNITY, WE'VE 5940 03:32:25,376 --> 03:32:27,311 SEEN WHAT CAN HAPPEN WHEN 5941 03:32:27,311 --> 03:32:28,980 RESOURCES ARE PUT BEHIND A 5942 03:32:28,980 --> 03:32:30,081 CONDITION. 5943 03:32:30,081 --> 03:32:31,716 LOOK AT COVID-19 AND THE 5944 03:32:31,716 --> 03:32:36,587 EXISTING TECHNOLOGY THAT WAS 5945 03:32:36,587 --> 03:32:37,989 HARNESSED TO QUICKLY MEET AN 5946 03:32:37,989 --> 03:32:38,456 UNMET NEED. 5947 03:32:38,456 --> 03:32:40,057 THAT, TO ME, IS A PERFECT USE 5948 03:32:40,057 --> 03:32:41,325 CASE FOR DUCHENNE, WHERE, YOU 5949 03:32:41,325 --> 03:32:43,027 KNOW, IT'S BEEN -- WE'VE BEEN 5950 03:32:43,027 --> 03:32:44,729 AWARE OF THIS DISEASE FOR SO 5951 03:32:44,729 --> 03:32:47,865 LONG AND NOW WE HAVE TOOLS, SO 5952 03:32:47,865 --> 03:32:51,068 THERE'S KIND OF A SENSE IN THE 5953 03:32:51,068 --> 03:32:53,938 COMMUNITY LIKE WE HAVE WHAT WE 5954 03:32:53,938 --> 03:32:57,642 NEED TO SOLVE THIS AND WE NEED 5955 03:32:57,642 --> 03:33:01,245 KIND OF A MOONSHOT WITH WHAT'S 5956 03:33:01,245 --> 03:33:02,480 HAPPENED WITH CANCER AND OTHER 5957 03:33:02,480 --> 03:33:03,881 CONDITIONS TO REALLY SORT OF GET 5958 03:33:03,881 --> 03:33:04,415 BEHIND THIS. 5959 03:33:04,415 --> 03:33:06,517 SO THERE'S ALSO RECOGNITION THAT 5960 03:33:06,517 --> 03:33:09,453 SOLVING THIS PROBLEM OF GETTING 5961 03:33:09,453 --> 03:33:10,655 VIABLE NEXT GEN TREATMENTS TO 5962 03:33:10,655 --> 03:33:11,422 MUSCLE IS GOING TO BE TELLING 5963 03:33:11,422 --> 03:33:14,025 FOR SO MANY OTHER CONDITIONS. 5964 03:33:14,025 --> 03:33:15,459 LIKE IT'S A REALLY HARD PROBLEM, 5965 03:33:15,459 --> 03:33:17,128 AND IF WE SOLVE THIS REALLY HARD 5966 03:33:17,128 --> 03:33:18,963 PROBLEM, IT'S GOING TO TRICKLE 5967 03:33:18,963 --> 03:33:20,798 DOWN AND REALLY, I THINK, CHANGE 5968 03:33:20,798 --> 03:33:25,936 THE FACE OF SO MANY DISEASES OUT 5969 03:33:25,936 --> 03:33:26,237 THERE. 5970 03:33:26,237 --> 03:33:27,805 >> I AGREE. 5971 03:33:27,805 --> 03:33:29,974 DAN? 5972 03:33:29,974 --> 03:33:33,311 >> YES, HI. 5973 03:33:33,311 --> 03:33:35,112 THAT WAS AN EXCELLENT 5974 03:33:35,112 --> 03:33:35,413 DISCUSSION. 5975 03:33:35,413 --> 03:33:40,017 I HAVE THREE QUESTIONS FOR JEN. 5976 03:33:40,017 --> 03:33:45,756 ONE IS, WHEN YOU STARTED THIS 5977 03:33:45,756 --> 03:33:48,426 PROCESS, DID YOU SEE YOURSELF 5978 03:33:48,426 --> 03:33:52,463 GOING INTO A CLINICAL TRIAL OR 5979 03:33:52,463 --> 03:33:56,901 DID YOU SEE YOURSELF GOING INTO 5980 03:33:56,901 --> 03:34:06,610 A TREATMENT OR A DRUG? 5981 03:34:06,610 --> 03:34:08,145 -- MINDSET, DID YOU GO IN 5982 03:34:08,145 --> 03:34:10,348 THINKING I'M GOING TO GET MY SON 5983 03:34:10,348 --> 03:34:11,415 TREATED WITH THIS MEDICATION, OR 5984 03:34:11,415 --> 03:34:16,454 DID YOU GO IN THINKING, I'M A 5985 03:34:16,454 --> 03:34:18,289 PART OF A STUDY TO SEE WHETHER 5986 03:34:18,289 --> 03:34:22,126 THE DRUG WORKS OR NOT? 5987 03:34:22,126 --> 03:34:23,728 >> YEAH, THAT'S SUCH AN 5988 03:34:23,728 --> 03:34:24,161 INSIGHTFUL QUESTION. 5989 03:34:24,161 --> 03:34:26,030 SO I THINK WE WERE SO FORTUNATE, 5990 03:34:26,030 --> 03:34:28,399 AND I GIVE SO MUCH CREDIT TO THE 5991 03:34:28,399 --> 03:34:30,368 FAMILIES WHO WERE IN THE EARLIER 5992 03:34:30,368 --> 03:34:31,035 PHASES OF THE TRIAL. 5993 03:34:31,035 --> 03:34:33,070 WE WERE IN A PHASE THREE TRIAL. 5994 03:34:33,070 --> 03:34:34,238 SO WE ALREADY HAD A LOT OF 5995 03:34:34,238 --> 03:34:35,306 INFORMATION ABOUT WHAT THIS DRUG 5996 03:34:35,306 --> 03:34:38,008 MAY OR MAY NOT DO. 5997 03:34:38,008 --> 03:34:39,777 SO I THINK FOR US, IT WAS A 5998 03:34:39,777 --> 03:34:40,845 LITTLE BIT OF AN EASIER DECISION 5999 03:34:40,845 --> 03:34:42,680 IN THAT WE KNEW THAT IT PROBABLY 6000 03:34:42,680 --> 03:34:46,517 WOULD GIVE CHARLIE SOME BENEFIT. 6001 03:34:46,517 --> 03:34:48,252 AND ALREADY HAD A PRETTY DECENT 6002 03:34:48,252 --> 03:34:49,620 SAFETY RECORD. 6003 03:34:49,620 --> 03:34:52,390 SO IT MADE IT DEFINITELY EASIER, 6004 03:34:52,390 --> 03:34:54,525 PLUS KNOWING THAT WE WOULD GET 6005 03:34:54,525 --> 03:35:00,197 DRUG WITHOUT THE INSURANCE FILES 6006 03:35:00,197 --> 03:35:02,299 WE'VE SEEN ALREADY HAVE HAPPENED 6007 03:35:02,299 --> 03:35:04,068 SINCE THE LIMITED FDA APPROVAL 6008 03:35:04,068 --> 03:35:05,236 IT DEFINITELY MADE IT EASIER. 6009 03:35:05,236 --> 03:35:06,404 SO I WOULD SAY WE MORE 6010 03:35:06,404 --> 03:35:07,438 CONSIDERED THAT WE WERE GOING IN 6011 03:35:07,438 --> 03:35:11,509 FOR A TREATMENT ALTHOUGH IT WAS 6012 03:35:11,509 --> 03:35:13,177 STILL SOMEWHAT EXPERIMENTAL. 6013 03:35:13,177 --> 03:35:19,650 >> THEN FOLLOWING THAT, DID YOU 6014 03:35:19,650 --> 03:35:23,687 FIND YOURSELF AT ANY POINT DUE 6015 03:35:23,687 --> 03:35:29,126 TO FRUSTRATION WITH ACCESS AND 6016 03:35:29,126 --> 03:35:32,797 REALLY STRINGENT INCLUSION 6017 03:35:32,797 --> 03:35:38,302 CRITERIA FINDING YOURSELF 6018 03:35:38,302 --> 03:35:40,538 CHASING THE DIALOGUE OR THE 6019 03:35:40,538 --> 03:35:43,941 CRITERIA BY WHICH THE DRUG MAY 6020 03:35:43,941 --> 03:35:47,144 BE APPROVED THROUGH ADVOCACY? 6021 03:35:47,144 --> 03:35:51,048 SO DID YOU FIND YOURSELF REALLY 6022 03:35:51,048 --> 03:35:53,751 HAVING TO BE PROACTIVE IN COMING 6023 03:35:53,751 --> 03:36:00,157 UP WITH WAYS TO WORK WITH THE 6024 03:36:00,157 --> 03:36:02,092 FDA AND THE COMMUNITY TO GET THE 6025 03:36:02,092 --> 03:36:09,500 DRUGS APPROVED AND EXPANDED? 6026 03:36:09,500 --> 03:36:19,743 HOW MUCH EFFORT OR ACTIVITY DID 6027 03:36:19,743 --> 03:36:21,946 YOU OR DID YOU NOT HAVE TO PUT 6028 03:36:21,946 --> 03:36:25,649 INTO THAT CONSIDERATION? 6029 03:36:25,649 --> 03:36:28,152 >> SO AS I MENTIONED, YOU KNOW, 6030 03:36:28,152 --> 03:36:30,187 NSAA WAS A CONCERN IN TERMS OF 6031 03:36:30,187 --> 03:36:31,055 SCREENING INTO THE TRIAL. 6032 03:36:31,055 --> 03:36:32,890 I WAS WORRIED, YOU KNOW, WOULD 6033 03:36:32,890 --> 03:36:34,625 HE HAVE NEUTRALIZING ANTIBODIES, 6034 03:36:34,625 --> 03:36:36,861 WOULD HE PERFORM ON NSAA, WOULD 6035 03:36:36,861 --> 03:36:38,963 IT BE A BAD DAY, WOULD HE GET A 6036 03:36:38,963 --> 03:36:40,431 LOWER SCORE, WOULD HE -- YOU 6037 03:36:40,431 --> 03:36:42,633 KNOW, ALL THOSE THINGS THAT FELT 6038 03:36:42,633 --> 03:36:43,434 VERY LOOSE. 6039 03:36:43,434 --> 03:36:45,402 SO I DEFINITELY CONSIDERED THAT. 6040 03:36:45,402 --> 03:36:49,106 AND THEN I THINK ONLY NOW AM I 6041 03:36:49,106 --> 03:36:50,541 REALIZING HOW MUCH ADVOCACY 6042 03:36:50,541 --> 03:36:53,110 NEEDS TO BE DONE IN TERMS OF 6043 03:36:53,110 --> 03:36:56,680 LOOKING AT OTHER INSTRUMENTS TO 6044 03:36:56,680 --> 03:36:57,781 CONSIDER BOTH FOR SCREENING IN 6045 03:36:57,781 --> 03:37:00,451 TO A TRIAL AND FOR THOSE END 6046 03:37:00,451 --> 03:37:02,553 POINTS, I THINK WE'RE IN A 6047 03:37:02,553 --> 03:37:04,154 DIFFERENT DAY NOW WHERE PERHAPS 6048 03:37:04,154 --> 03:37:06,390 THERE ARE OTHER WAYS TO -- 6049 03:37:06,390 --> 03:37:07,458 BECAUSE I THINK THERE'S A LITTLE 6050 03:37:07,458 --> 03:37:10,628 BIT OF A DISCONNECT IN THAT AS 6051 03:37:10,628 --> 03:37:13,397 PARENTS WE SEE EVERY DAY THE 6052 03:37:13,397 --> 03:37:17,635 IMPACT OF THIS TREATMENT ON OUR 6053 03:37:17,635 --> 03:37:19,970 BOYS AND IT'S A LITTLE BIT AT 6054 03:37:19,970 --> 03:37:20,938 ODDS WITH THE SORT OF CLINICAL 6055 03:37:20,938 --> 03:37:22,339 DISCUSSION OF THE NSAA. 6056 03:37:22,339 --> 03:37:24,141 SO I THINK NOW THERE'S AN 6057 03:37:24,141 --> 03:37:26,277 INCREASING REALIZATION OF 6058 03:37:26,277 --> 03:37:27,478 ADVOCACY TO MAYBE FIND SOME 6059 03:37:27,478 --> 03:37:31,448 OTHER TOOLS THAT MIGHT BE USE 6060 03:37:31,448 --> 03:37:32,283 USEFUL. 6061 03:37:32,283 --> 03:37:36,120 >> OKAY, BECAUSE I OFTEN 6062 03:37:36,120 --> 03:37:40,391 WONDER -- I THINK THIS AREA, THE 6063 03:37:40,391 --> 03:37:48,399 AAV VECTORS AND -- AND CRISPR, I 6064 03:37:48,399 --> 03:37:53,170 REALLY THINK -- AGNOSTIC 6065 03:37:53,170 --> 03:38:02,646 APPROACH BETWEEN THE PAYLOAD AND 6066 03:38:02,646 --> 03:38:03,480 THE DELIVERY. 6067 03:38:03,480 --> 03:38:05,416 SO I THINK WE NEED AS A 6068 03:38:05,416 --> 03:38:13,223 COMMUNITY TO HAVE AAV VECTOR -- 6069 03:38:13,223 --> 03:38:19,129 AAV -- RA74 -- DUCHENNE, NOT SO 6070 03:38:19,129 --> 03:38:21,565 MUCH PERHAPS IN ADULTS, SO IN 6071 03:38:21,565 --> 03:38:26,303 TERMS OF LESSONS LEARNED FROM 6072 03:38:26,303 --> 03:38:31,008 SAREPTA 9001 FROM DUCHENNE IN 6073 03:38:31,008 --> 03:38:35,613 THE ADULT COMMUNITY, WE'RE SORT 6074 03:38:35,613 --> 03:38:37,314 OF AT A LOSS BECAUSE THERE 6075 03:38:37,314 --> 03:38:42,486 REALLY IS NO ACCESS TO SOMETHING 6076 03:38:42,486 --> 03:38:46,824 THAT COULD CAUSE NUMEROUS 6077 03:38:46,824 --> 03:38:49,460 PROBLEMS IN ADULTS. 6078 03:38:49,460 --> 03:38:51,929 SO THE THOUGHT OF DISCUSSION 6079 03:38:51,929 --> 03:38:56,467 WHAT IS THE CONSIDERATION WITH 6080 03:38:56,467 --> 03:38:58,469 THE -- VECTORS ACROSS ALL THE 6081 03:38:58,469 --> 03:39:00,437 DYSTROPHIES OR ARE THERE OTHER 6082 03:39:00,437 --> 03:39:05,843 NANOPARTICLE DELIVERY SYSTEMS, 6083 03:39:05,843 --> 03:39:09,880 AND I'M DI GRESSING. 6084 03:39:09,880 --> 03:39:11,715 IT'S A REALLY INTERESTING AREA 6085 03:39:11,715 --> 03:39:13,684 BUT I ALSO AM CONCERNED THAT WE 6086 03:39:13,684 --> 03:39:17,321 AS MOTHERS AND PATIENTS AND SONS 6087 03:39:17,321 --> 03:39:24,928 AND DAUGHTERS -- THE DUCHENNE 6088 03:39:24,928 --> 03:39:25,195 COMMUNITY. 6089 03:39:25,195 --> 03:39:26,196 THE KIDS ARE YOUNG, THE FAMILIES 6090 03:39:26,196 --> 03:39:34,738 ARE YOUNG, IT'S REALLY HARD. 6091 03:39:34,738 --> 03:39:36,373 SO WE MUST REMEMBER IT'S 6092 03:39:36,373 --> 03:39:37,341 PARTICULARLY DEVASTATING WHEN 6093 03:39:37,341 --> 03:39:40,010 YOU'RE 40 YEARS OLD AND YOU'RE 6094 03:39:40,010 --> 03:39:48,786 DIAGNOSED WITH NIATONICFSH, YOU 6095 03:39:48,786 --> 03:39:51,088 HAVE A -- AND A WIFE AND 6096 03:39:51,088 --> 03:39:54,825 EVERYTHING ELSE, BUT I OFTEN 6097 03:39:54,825 --> 03:39:57,928 WONDER WHETHER THE PATIENT 6098 03:39:57,928 --> 03:40:05,869 COMMUNITIES ARE TRYING TO COERCE 6099 03:40:05,869 --> 03:40:07,237 THE STANDARDS BY WHICH THE DRUG 6100 03:40:07,237 --> 03:40:11,475 WORKS. 6101 03:40:11,475 --> 03:40:14,678 SO THERE'S SO MUCH PRESSURE AND 6102 03:40:14,678 --> 03:40:20,784 SOME DESPERATION ON ALL OF TH 6103 03:40:20,784 --> 03:40:23,987 THE -- ALL OF OUR PARTS TO SEE 6104 03:40:23,987 --> 03:40:28,058 THESE DRUGS IN TRIAL AND USED. 6105 03:40:28,058 --> 03:40:31,028 I HAVE THIS NAGGING CONCERN THAT 6106 03:40:31,028 --> 03:40:33,630 FOR THREE DECADES OF WORK, THAT 6107 03:40:33,630 --> 03:40:37,534 WE'RE NOT DOING ENOUGH WORK ON 6108 03:40:37,534 --> 03:40:40,504 THE FRONT END, AND WHAT WE'RE 6109 03:40:40,504 --> 03:40:45,109 TRYING TO DO IS CHANGE THE SHAPE 6110 03:40:45,109 --> 03:40:47,111 NARRATIVE AROUND BY WHICH WE CAN 6111 03:40:47,111 --> 03:40:50,114 GET THESE DRUGS APPROVED. 6112 03:40:50,114 --> 03:40:52,716 THE PATIENT-REPORTED OUT COME, 6113 03:40:52,716 --> 03:40:54,485 WATCHING OUR KIDS GO THROUGH 6114 03:40:54,485 --> 03:41:00,090 DIFFERENT THRESHOLDS, SUCCESSES, 6115 03:41:00,090 --> 03:41:03,160 GRADES OF IMPROVEMENT OR FAILURE 6116 03:41:03,160 --> 03:41:09,333 IN ABILITY TO WALK, IN ORDER TO 6117 03:41:09,333 --> 03:41:12,770 GET OFF THE FLOOR, IN ORDER TO 6118 03:41:12,770 --> 03:41:13,537 DRESS YOURSELF, FEED YOURSELF, 6119 03:41:13,537 --> 03:41:17,241 ET CETERA, ET CETERA, ET CETERA. 6120 03:41:17,241 --> 03:41:21,612 AND I JUST -- I'M JUST ASKING, 6121 03:41:21,612 --> 03:41:23,380 JEN, FOR THE COMMUNITY HERE, HOW 6122 03:41:23,380 --> 03:41:28,619 ARE WE DOING, DO WE FEEL LIKE 6123 03:41:28,619 --> 03:41:34,324 WE'RE HAVING TO CREATE THE 6124 03:41:34,324 --> 03:41:36,960 STANDARD TO ALTERNATIVE 6125 03:41:36,960 --> 03:41:37,594 MECHANISM RATHER THAN THE DRUG 6126 03:41:37,594 --> 03:41:43,200 WORKS OR IT DOESN'T WORK. 6127 03:41:43,200 --> 03:41:45,836 WE'RE ALWAYS SITTING ON THIS 6128 03:41:45,836 --> 03:41:50,607 THRESHOLD, WE THINK IT'S -- FOR 6129 03:41:50,607 --> 03:41:54,478 THE NEXT FIVE YEARS. 6130 03:41:54,478 --> 03:42:01,118 SO IS IT JUST MY QUESTION TO YOU 6131 03:42:01,118 --> 03:42:02,286 OR -- DISCUSSION IS ARE WE DOING 6132 03:42:02,286 --> 03:42:08,525 THE RIGHT THING, AND DO WE NEED 6133 03:42:08,525 --> 03:42:14,498 BETTER MEASURES TO SHOW WHETHER 6134 03:42:14,498 --> 03:42:18,502 THE DRUGS ARE WORKING OR NOT 6135 03:42:18,502 --> 03:42:19,469 WORKING? 6136 03:42:19,469 --> 03:42:21,271 >> JEN, CAN YOU ANSWER? 6137 03:42:21,271 --> 03:42:21,505 >> YES. 6138 03:42:21,505 --> 03:42:25,342 >> SO I THINK THERE'S A LOT TO 6139 03:42:25,342 --> 03:42:25,876 KIND OF UNPACK THERE. 6140 03:42:25,876 --> 03:42:27,845 I THINK THAT AS I'VE SAID, I 6141 03:42:27,845 --> 03:42:31,715 THINK THERE ARE BETTER TOOLS TO 6142 03:42:31,715 --> 03:42:32,182 BE FOUND. 6143 03:42:32,182 --> 03:42:36,987 I THINK THAT THERE ARE CONCERNS 6144 03:42:36,987 --> 03:42:37,921 ABOUT MSAA. 6145 03:42:37,921 --> 03:42:41,258 I WILL JUST SAY THAT I THINK 6146 03:42:41,258 --> 03:42:43,627 THAT NO PARENT WILL PUT THEIR 6147 03:42:43,627 --> 03:42:47,264 CHILD IN A TRIAL THAT THEY DON'T 6148 03:42:47,264 --> 03:42:51,268 BELIEVE HAS SHOWN ITSELF TO BE 6149 03:42:51,268 --> 03:42:51,935 EFFICACIOUS IN HOWEVER WAY THEY 6150 03:42:51,935 --> 03:42:53,403 LOOK AT THAT, WHETHER IT BE 6151 03:42:53,403 --> 03:42:54,738 LIVED EXPERIENCE, WHETHER IT BE 6152 03:42:54,738 --> 03:42:56,106 THE DATA THAT'S ALREADY BEEN 6153 03:42:56,106 --> 03:42:57,507 REPORTED FROM EARLIER PHASES OF 6154 03:42:57,507 --> 03:43:01,645 THE TRIAL, I THINK THAT I 6155 03:43:01,645 --> 03:43:02,913 CERTAINLY WOULDN'T GO OUT ON A 6156 03:43:02,913 --> 03:43:06,950 LIMB AND SAY THAT WE HAVE SEEN 6157 03:43:06,950 --> 03:43:09,086 THINGS IN OUR SON THAT ARE 6158 03:43:09,086 --> 03:43:12,055 ENCOURAGING IF IT WEREN'T TRUE. 6159 03:43:12,055 --> 03:43:17,027 I WOULDN'T GO OUT AND ADVOCATE 6160 03:43:17,027 --> 03:43:18,195 FOR ANYTHING THAT WAS JUST SORT 6161 03:43:18,195 --> 03:43:20,063 OF WISHFUL THINKING. 6162 03:43:20,063 --> 03:43:22,165 I THINK THIS IS A MEANINGFUL 6163 03:43:22,165 --> 03:43:23,333 FIRST STEP AND I THINK EVERYONE 6164 03:43:23,333 --> 03:43:24,935 IN THE COMMUNITY RECOGNIZES THE 6165 03:43:24,935 --> 03:43:28,171 NEED FOR ALL THE STEPS TO COME. 6166 03:43:28,171 --> 03:43:29,373 >> THANK YOU. 6167 03:43:29,373 --> 03:43:31,508 AND DAN, IN THE INTEREST OF 6168 03:43:31,508 --> 03:43:34,077 TIME, WALTER DID WRITE AN ANSWER 6169 03:43:34,077 --> 03:43:36,613 IN THE CHAT BOX, AND WE'LL TAKE 6170 03:43:36,613 --> 03:43:38,181 BRAD'S QUESTION OR COMMENT AS 6171 03:43:38,181 --> 03:43:39,650 THE LAST ONE BEFORE THE LUNCH 6172 03:43:39,650 --> 03:43:40,651 BREAK. 6173 03:43:40,651 --> 03:43:45,255 >> THANK YOU. 6174 03:43:45,255 --> 03:43:47,624 >> THANK YOU. 6175 03:43:47,624 --> 03:43:50,594 SO JENNIFER, I'M WONDERING IF 6176 03:43:50,594 --> 03:43:51,795 YOU COULD, GIVEN YOUR EXPERIENCE 6177 03:43:51,795 --> 03:43:55,065 IN SORT OF THE COMPLICATED, YOU 6178 03:43:55,065 --> 03:43:57,567 KNOW, PATH THAT IT TOOK YOU TO 6179 03:43:57,567 --> 03:44:00,737 GET YOUR SON INTO THE TRIAL, 6180 03:44:00,737 --> 03:44:03,807 WHAT DO YOU THINK COULD BE DONE 6181 03:44:03,807 --> 03:44:06,109 TO MAKE ENROLLMENT IN CLINICAL 6182 03:44:06,109 --> 03:44:10,814 TRIALS EASIER, WHICH, GIVEN THAT 6183 03:44:10,814 --> 03:44:12,616 DMD HAS A FAIRLY LARGE 6184 03:44:12,616 --> 03:44:14,351 POPULATION AS MUSCULAR 6185 03:44:14,351 --> 03:44:19,022 DYSTROPHIES GO, BUT FOR TYPES OF 6186 03:44:19,022 --> 03:44:21,358 MUSCULAR DYSTROPHY WHERE THE 6187 03:44:21,358 --> 03:44:24,094 POPULATIONS ARE MUCH SMALLER, 6188 03:44:24,094 --> 03:44:28,098 BEING ABLE TO RECRUIT ENOUGH 6189 03:44:28,098 --> 03:44:29,299 PEOPLE TO FILL THE TRIAL IS EVEN 6190 03:44:29,299 --> 03:44:33,103 MORE OF A CHALLENGE. 6191 03:44:33,103 --> 03:44:34,571 >> YEAH, SO I DEFINITELY HEAR 6192 03:44:34,571 --> 03:44:34,871 YOUR POINT. 6193 03:44:34,871 --> 03:44:36,039 I MEAN, I THINK THERE'S ALWAYS 6194 03:44:36,039 --> 03:44:39,142 GOING TO BE AN ELEMENT OF, YOU 6195 03:44:39,142 --> 03:44:40,444 KNOW, NOT EVERY BOY OR FAMILY 6196 03:44:40,444 --> 03:44:43,280 WHO WANTS TO GET INTO A DUCHENNE 6197 03:44:43,280 --> 03:44:43,714 TRIAL CAN. 6198 03:44:43,714 --> 03:44:48,151 IT'S JUST A MATTER OF NUMBERS. 6199 03:44:48,151 --> 03:44:49,152 BUT I THINK THERE'S A LITTLE BIT 6200 03:44:49,152 --> 03:44:50,220 OF EDUCATION AND CONNECTION THAT 6201 03:44:50,220 --> 03:44:54,191 NEEDS TO BE MADE BETWEEN 6202 03:44:54,191 --> 03:44:58,328 FAMILIES AND SPONSORS, SPONSOR 6203 03:44:58,328 --> 03:45:01,565 SITES, TO ALERT FAMILIES OF THE 6204 03:45:01,565 --> 03:45:02,065 OPPORTUNITY. 6205 03:45:02,065 --> 03:45:03,867 I THINK THAT IT'S INCUMBENT UPON 6206 03:45:03,867 --> 03:45:07,204 FAMILIES TO GO TO 6207 03:45:07,204 --> 03:45:07,871 CLINICALTRIALS.GOV AND FIGURE IT 6208 03:45:07,871 --> 03:45:09,740 OUT FOR THEMSELVES, OR RELY ON 6209 03:45:09,740 --> 03:45:11,441 THEIR CARE TEAM WHO, YOU KNOW, 6210 03:45:11,441 --> 03:45:12,776 FRANKLY MIGHT BE OVERWHELMED 6211 03:45:12,776 --> 03:45:13,844 WITH CARE AND NOT PAYING 6212 03:45:13,844 --> 03:45:17,447 ATTENTION OR NOT BE AWARE IF 6213 03:45:17,447 --> 03:45:19,182 THEY'RE NOT A SITE ON A CERTAIN 6214 03:45:19,182 --> 03:45:20,584 DRUG AND ALL OF THE SITES THAT 6215 03:45:20,584 --> 03:45:21,685 ARE INVOLVED IN A CERTAIN PHASE 6216 03:45:21,685 --> 03:45:25,422 OF A TRIAL. 6217 03:45:25,422 --> 03:45:28,291 SO I JUST THINK, PARTLY BECAUSE 6218 03:45:28,291 --> 03:45:31,962 I'M A PROFESSIONAL COMMUNICATOR, 6219 03:45:31,962 --> 03:45:33,096 I THINK THERE NEEDS TO BE SOME 6220 03:45:33,096 --> 03:45:34,031 OTHER COMMUNICATION MECHANISM BY 6221 03:45:34,031 --> 03:45:37,100 WHICH FAMILIES CAN UNDERSTAND IF 6222 03:45:37,100 --> 03:45:40,904 THEIR CHILD AND THEIR CHILD'S 6223 03:45:40,904 --> 03:45:42,706 MUTATION, AMBULATORY STATUS, 6224 03:45:42,706 --> 03:45:46,843 WHATEVER CRITERIA MIGHT BE MAT 6225 03:45:46,843 --> 03:45:48,445 MATCHED WITH A CERTAIN SITE THAT 6226 03:45:48,445 --> 03:45:50,213 MIGHT BE OPENING UP OR ACTIVELY 6227 03:45:50,213 --> 03:45:53,183 RECRUITING FOR A CERTAIN 6228 03:45:53,183 --> 03:45:54,484 POTENTIAL TREATMENT OR PHASE 6229 03:45:54,484 --> 03:46:00,190 1 TRIAL. 6230 03:46:00,190 --> 03:46:00,524 >> THANK YOU. 6231 03:46:00,524 --> 03:46:02,359 >> I KNOW PPMD DOES THIS AS 6232 03:46:02,359 --> 03:46:03,827 WELL. 6233 03:46:03,827 --> 03:46:05,862 WE HAVE ONE-ON-ONE MEETINGS WITH 6234 03:46:05,862 --> 03:46:07,831 FAMILIES TO SORT OF, YOU KNOW, 6235 03:46:07,831 --> 03:46:09,332 NAVIGATE, AND SOME OF THAT IS -- 6236 03:46:09,332 --> 03:46:11,935 SOME OF THAT INFORMATION IS 6237 03:46:11,935 --> 03:46:13,270 EVERGREEN, RIGHT, IF YOU HAVE A 6238 03:46:13,270 --> 03:46:14,337 MUTATION THAT EXON SKIPPING IS 6239 03:46:14,337 --> 03:46:16,106 NEVER GOING TO ADDRESS, BUT SOME 6240 03:46:16,106 --> 03:46:17,841 OF THAT CHANGES MONTH TO MONTH 6241 03:46:17,841 --> 03:46:22,145 AS NEW TRIALS ARE INITIATED AND 6242 03:46:22,145 --> 03:46:24,514 SO YOU'RE TRYING TO GIVE THEM A 6243 03:46:24,514 --> 03:46:29,119 SNAPSHOT OF WHERE THINGS ARE. 6244 03:46:29,119 --> 03:46:29,953 AS WELL AS WHAT TO BE KEEPING AN 6245 03:46:29,953 --> 03:46:30,620 EYE ON. 6246 03:46:30,620 --> 03:46:32,522 BUT IT IS, IT HAS TO BE A 6247 03:46:32,522 --> 03:46:34,858 CONTINUOUS PROCESS, AND I AGREE 6248 03:46:34,858 --> 03:46:36,526 THAT OUR COMMUNITIES, WE NEED TO 6249 03:46:36,526 --> 03:46:39,229 FIND ADDITIONAL WAYS TO ACTUALLY 6250 03:46:39,229 --> 03:46:41,665 MAKE ALL OF THAT EASIER FOR 6251 03:46:41,665 --> 03:46:44,367 INDIVIDUALS TO ACCESS. 6252 03:46:44,367 --> 03:46:46,036 >> WELL, I'D LIKE TO THANK BOTH 6253 03:46:46,036 --> 03:46:47,537 OF YOU. 6254 03:46:47,537 --> 03:46:49,072 I WISH WE HAD MORE TIME BECAUSE 6255 03:46:49,072 --> 03:46:51,842 THIS IS SO IMPORTANT, AND FROM 6256 03:46:51,842 --> 03:46:53,410 MY PERSPECTIVE, JEN, THE 6257 03:46:53,410 --> 03:46:54,578 QUESTIONS THAT YOU RAISED ABOUT 6258 03:46:54,578 --> 03:46:56,813 THE LONG-TERM EFFECTS OF 6259 03:46:56,813 --> 03:46:59,082 TREATMENT ARE SO IMPORTANT. 6260 03:46:59,082 --> 03:47:01,451 I MEAN, WE'RE REALLY MOVING INTO 6261 03:47:01,451 --> 03:47:04,988 THE YO UNKNOWN, AND, YOU KNOW, 6262 03:47:04,988 --> 03:47:07,858 QUESTIONS ABOUT LONG TERM 6263 03:47:07,858 --> 03:47:10,060 HEALTH, FERTILITY, YOU KNOW, 6264 03:47:10,060 --> 03:47:11,328 NEXT GENERATION TYPES OF 6265 03:47:11,328 --> 03:47:11,795 CHANGES. 6266 03:47:11,795 --> 03:47:13,196 I MEAN, SO WE'LL PROBABLY HAVE 6267 03:47:13,196 --> 03:47:14,631 YOU COME BACK. 6268 03:47:14,631 --> 03:47:15,198 I THINK -- 6269 03:47:15,198 --> 03:47:16,233 >> I'D LOVE TO. 6270 03:47:16,233 --> 03:47:18,668 >> THAT WILL BE THE SOLUTION. 6271 03:47:18,668 --> 03:47:20,170 SO I BELIEVE WE HAVE A LUNCH 6272 03:47:20,170 --> 03:47:21,605 BREAK. 6273 03:47:21,605 --> 03:47:24,107 WE'RE RUNNING ABOUT 22 MINUTES 6274 03:47:24,107 --> 03:47:27,077 BEHIND, GLEN, WHAT'S THE RETURN 6275 03:47:27,077 --> 03:47:28,011 TIME? 6276 03:47:28,011 --> 03:47:29,346 >> SO I THINK WE PROBABLY CAN 6277 03:47:29,346 --> 03:47:31,414 MAKE UP SOME TIME A LITTLE BIT 6278 03:47:31,414 --> 03:47:33,383 IN THE AFTERNOON, SO LET'S GO 6279 03:47:33,383 --> 03:47:35,719 AHEAD AND TAKE A 30-MINUTE 6280 03:47:35,719 --> 03:47:36,186 BREAK. 6281 03:47:36,186 --> 03:47:38,822 SO RETURN AT 1:30. 6282 03:47:38,822 --> 03:47:42,225 AND IF YOU ORDERED LUNCH HERE, 6283 03:47:42,225 --> 03:47:43,527 THE LUNCHES ARE IN THE KITCHEN 6284 03:47:43,527 --> 03:47:45,629 DOWN HERE WITH YOUR NAME ON IT. 6285 03:47:45,629 --> 03:47:46,930 AGAIN, PLEASE HELP YOURSELF TO 6286 03:47:46,930 --> 03:47:48,999 FRUIT AND THERE'S LACROIX IN THE 6287 03:47:48,999 --> 03:47:50,066 COOLER. 6288 03:47:50,066 --> 03:47:52,736 SO WE'LL RESUME AT ABOUT 1:30. 6289 03:47:52,736 --> 03:47:58,399 >> THANK YOU. 6290 03:47:58,399 --> 03:48:00,034 >> I HOPE EVERYBODY HAD A GOOD 6291 03:48:00,034 --> 03:48:00,735 LUNCH BREAK. 6292 03:48:00,735 --> 03:48:02,203 WELCOME BACK. 6293 03:48:02,203 --> 03:48:04,739 IN THE NEXT SESSION, WE'LL BE 6294 03:48:04,739 --> 03:48:08,542 DISCUSSING STRATEGIC PLANNING. 6295 03:48:08,542 --> 03:48:10,544 NOPE, SORRY, I'M ON THE WRONG 6296 03:48:10,544 --> 03:48:10,745 PAGE. 6297 03:48:10,745 --> 03:48:11,212 WELCOME BACK. 6298 03:48:11,212 --> 03:48:13,647 NEXT WE'LL HAVE THREE 6299 03:48:13,647 --> 03:48:15,516 PRESENTATIONS ON THE THEME OF 6300 03:48:15,516 --> 03:48:16,951 PATHWAYS TO REGULATORY 6301 03:48:16,951 --> 03:48:17,284 APPROVALS. 6302 03:48:17,284 --> 03:48:19,787 THE FIRST IS A PRESENTATION FROM 6303 03:48:19,787 --> 03:48:20,788 MS. NIKI ARMSTRONG OF THE PARENT 6304 03:48:20,788 --> 03:48:22,289 PROJECT MUSCULAR DYSTROPHY ON 6305 03:48:22,289 --> 03:48:25,292 PROGRESS IN NEWBORN SCREENING. 6306 03:48:25,292 --> 03:48:29,597 NIKI. 6307 03:48:29,597 --> 03:48:32,500 >> THOUSAND THANK YOU FOR THE 6308 03:48:32,500 --> 03:48:33,834 INTRODUCTION AND OPPORTUNITY TO 6309 03:48:33,834 --> 03:48:34,135 SPEAK TODAY. 6310 03:48:34,135 --> 03:48:36,537 AS YOU SAID, MY NAME IS NIKI 6311 03:48:36,537 --> 03:48:37,071 ARMSTRONG, ASSOCIATE VICE 6312 03:48:37,071 --> 03:48:38,272 PRESIDENT OF COMMUNITY RESEARCH 6313 03:48:38,272 --> 03:48:40,207 AND GENETIC SERVICES AT PPMD, 6314 03:48:40,207 --> 03:48:41,842 AND I'M A GENETIC COUNSELOR BY 6315 03:48:41,842 --> 03:48:43,043 TRAINING AND I'M GOING TO BE 6316 03:48:43,043 --> 03:48:44,779 TALKING ABOUT OUR PROGRESS ON 6317 03:48:44,779 --> 03:48:52,286 NEWBORN SCREENING FOR DUCHENNE. 6318 03:48:52,286 --> 03:48:54,655 SO AS GLEN MENTIONED EARLIER, 6319 03:48:54,655 --> 03:48:56,023 NEW BORE SCREENING IS SOMETHING 6320 03:48:56,023 --> 03:48:59,393 PPMD HAS BEEN WORKING ON VOR A 6321 03:48:59,393 --> 03:49:01,529 VERY LONG TIME, AT THIS POINT 6322 03:49:01,529 --> 03:49:03,898 MORE THAN 10 YEARS, BUT I THINK 6323 03:49:03,898 --> 03:49:04,732 IT'S IMPORTANT WHEN STARTING A 6324 03:49:04,732 --> 03:49:05,933 CONVERSATION ON NEWBORN 6325 03:49:05,933 --> 03:49:08,536 SCREENING THAT WE PUT IT IN CON 6326 03:49:08,536 --> 03:49:10,571 FLEX OF HOW COMPLEX THE NEWBORN 6327 03:49:10,571 --> 03:49:12,106 SCREENING SYSTEM IS IN THE U.S. 6328 03:49:12,106 --> 03:49:14,241 NEWBORN SCREENING HAS BEEN AN 6329 03:49:14,241 --> 03:49:14,842 INCREDIBLY SUCCESSFUL PUBLIC 6330 03:49:14,842 --> 03:49:16,577 HEALTH INITIATIVE, BUT IT IS 6331 03:49:16,577 --> 03:49:18,913 ALSO INCREDIBLY VARIABLE. 6332 03:49:18,913 --> 03:49:20,581 AND THAT IS BECAUSE NEWBORN 6333 03:49:20,581 --> 03:49:21,782 SCREENING IS A STATE-BASED 6334 03:49:21,782 --> 03:49:23,083 PROGRAM. 6335 03:49:23,083 --> 03:49:26,120 SO EVERY STATE GETS TO DECIDE 6336 03:49:26,120 --> 03:49:26,954 WHICH CONDITION THAT EACH BABY 6337 03:49:26,954 --> 03:49:28,022 BORN IN THAT STATE SHOULD BE 6338 03:49:28,022 --> 03:49:28,889 SCREENED FOR. 6339 03:49:28,889 --> 03:49:30,925 AND YOU CAN SEE IN THAT MAP 6340 03:49:30,925 --> 03:49:32,226 THERE TO THE LEFT, THE DARKER 6341 03:49:32,226 --> 03:49:33,194 COLORS ARE STATES THAT ARE 6342 03:49:33,194 --> 03:49:34,428 SCREENING FOR MORE CONDITIONS, 6343 03:49:34,428 --> 03:49:36,363 LIGHTER COLORS ARE STATES 6344 03:49:36,363 --> 03:49:42,236 SCREENING FOR FEWER CONDITIONS. 6345 03:49:42,236 --> 03:49:44,972 EVERY STATE DECIDES HOW THEY 6346 03:49:44,972 --> 03:49:46,173 DETERMINE WHETHER ADDITIONAL 6347 03:49:46,173 --> 03:49:47,408 CONDITIONS SHOULD BE ADDED TO 6348 03:49:47,408 --> 03:49:48,642 THEY'RE STATE NEWBORN SCREENING 6349 03:49:48,642 --> 03:49:49,877 PROGRAM AND ALSO HOW THEY WANT 6350 03:49:49,877 --> 03:49:51,779 TO DO NEWBORN SCREENING. 6351 03:49:51,779 --> 03:49:53,347 SO PRETTY MUCH EVERY STATE 6352 03:49:53,347 --> 03:49:56,083 RECOMMENDS A SAMPLE BE COLLECTED 6353 03:49:56,083 --> 03:49:57,284 BETWEEN 24 AND 48 HOURS OF AGE 6354 03:49:57,284 --> 03:49:59,920 BUT SOME STATES ALSO RM AN 6355 03:49:59,920 --> 03:50:01,055 ADDITIONAL SAMPLE AT 7 TO 14 6356 03:50:01,055 --> 03:50:01,889 DAYS OF AGE. 6357 03:50:01,889 --> 03:50:05,125 SOME STATES ONLY DO A 6358 03:50:05,125 --> 03:50:06,727 BIOCHEMICAL SCREENING, SOME 6359 03:50:06,727 --> 03:50:07,995 STATES DO DNA SCREENING. 6360 03:50:07,995 --> 03:50:09,597 THERE'S A HUGE AMOUNT OF 6361 03:50:09,597 --> 03:50:10,664 VARIABILITY ABOUT HOW NEWBORN 6362 03:50:10,664 --> 03:50:17,104 SCREENING HAPPENS IN THE U.S. 6363 03:50:17,104 --> 03:50:18,372 SO THERE IS A LONG HISTORY OF 6364 03:50:18,372 --> 03:50:19,707 NEWBORN SCREENING PILOTS FOR 6365 03:50:19,707 --> 03:50:19,974 DUCHENNE. 6366 03:50:19,974 --> 03:50:22,309 YOU CAN SEE HERE IT DATES BACK 6367 03:50:22,309 --> 03:50:25,512 ALMOST 50 YEARS. 6368 03:50:25,512 --> 03:50:27,047 BUT THERE'S BEEN A CLUSTERING OF 6369 03:50:27,047 --> 03:50:29,016 PILOTS IN THE MORE RECENT YEARS. 6370 03:50:29,016 --> 03:50:30,651 ALL THE PILOTS HIGHLIGHTED IN 6371 03:50:30,651 --> 03:50:36,457 RED ARE PILOTS THAT USE AN FDA 6372 03:50:36,457 --> 03:50:39,026 AUTHORIZED ASSAY AND I'LL TALK 6373 03:50:39,026 --> 03:50:40,160 MORE ABOUT THAT. 6374 03:50:40,160 --> 03:50:41,528 AT THIS POINT, MORE THAN 6375 03:50:41,528 --> 03:50:42,696 2 MILLION NEWBORNS WORLDWIDE 6376 03:50:42,696 --> 03:50:43,931 HAVE BEEN SCREENED FOR 6377 03:50:43,931 --> 03:50:46,867 DUCHENNE'S AND AT LEAST ONE 6378 03:50:46,867 --> 03:50:53,340 PLACE, TAI WAN, TAIWAN, IS SCREL 6379 03:50:53,340 --> 03:50:54,775 BABIES WITHIN THAT PARTICULAR 6380 03:50:54,775 --> 03:50:55,876 REGION. 6381 03:50:55,876 --> 03:50:56,644 THE MORE RECENT NEWBORN 6382 03:50:56,644 --> 03:50:57,978 SCREENING PROGRAMS IN THE U.S. 6383 03:50:57,978 --> 03:50:58,712 ARE OUTLINED HERE. 6384 03:50:58,712 --> 03:51:00,915 SO PPMD SPONSORED A PILOT IN 6385 03:51:00,915 --> 03:51:02,216 NEW YORK STATE THAT RAN FROM 6386 03:51:02,216 --> 03:51:04,251 2019 TO 2021, SO TWO YEARS' 6387 03:51:04,251 --> 03:51:06,520 TIME, AND IN THAT TWO YEARS' 6388 03:51:06,520 --> 03:51:07,187 TIME, ALMOST 37,000 BABIES WERE 6389 03:51:07,187 --> 03:51:08,555 SCREENED. 6390 03:51:08,555 --> 03:51:12,826 WE THEN IDENTIFIED FOUR MALES, 6391 03:51:12,826 --> 03:51:13,494 THREE WITH DUCHENNE AND ONE WITH 6392 03:51:13,494 --> 03:51:14,762 BECKER AS WELL AS ONE FEMALE 6393 03:51:14,762 --> 03:51:17,331 CARRIER WITHIN THAT GROUP. 6394 03:51:17,331 --> 03:51:21,502 AND AT THE SAME TIME, THE RTI 6395 03:51:21,502 --> 03:51:23,871 MDA PROGRAM WAS ONGOING IN NORTH 6396 03:51:23,871 --> 03:51:25,439 CAROLINA THROUGH THEIR EARLY 6397 03:51:25,439 --> 03:51:27,274 CHECK AND NEWBORN SCREENING. 6398 03:51:27,274 --> 03:51:29,009 THAT PROGRAM WRAPPED UP OVER THE 6399 03:51:29,009 --> 03:51:30,344 SUMMER AND THEY SCREENED MORE 6400 03:51:30,344 --> 03:51:31,612 THAN 13,000 BABIES AND 6401 03:51:31,612 --> 03:51:33,280 IDENTIFIED TWO BOYS WITH 6402 03:51:33,280 --> 03:51:33,747 DUCHENNE. 6403 03:51:33,747 --> 03:51:36,350 BOTH THE PPMD AND THE RTI 6404 03:51:36,350 --> 03:51:38,085 PROGRAMS WERE VERY TRADITIONAL 6405 03:51:38,085 --> 03:51:39,787 CONSENTED NEWBORN SCREENING 6406 03:51:39,787 --> 03:51:40,988 PILOTS, MEANING EVERY FAMILY 6407 03:51:40,988 --> 03:51:43,691 THAT PARTICIPATED, PARTICIPATED 6408 03:51:43,691 --> 03:51:44,625 IN A RESEARCH STUDY WITH A 6409 03:51:44,625 --> 03:51:46,327 NUMBER OF PARAMETERS IN PLACE, 6410 03:51:46,327 --> 03:51:48,629 INCLUDING FULLY INFORMED 6411 03:51:48,629 --> 03:51:48,862 CONSENT. 6412 03:51:48,862 --> 03:51:49,830 THE THIRD PROGRAM THERE ON THE 6413 03:51:49,830 --> 03:51:51,298 RIGHT, THE CURE DUCHENNE PROGRAM 6414 03:51:51,298 --> 03:51:54,201 IN BOSTON, MASSACHUSETTS WAS 6415 03:51:54,201 --> 03:51:54,735 HAPPENING AT BRIGHAM AND 6416 03:51:54,735 --> 03:51:58,906 WOMEN'S, STARTED IN TWEB 2021 S 6417 03:51:58,906 --> 03:52:00,074 ONGOING. 6418 03:52:00,074 --> 03:52:01,909 IT'S A SUPPLEMENTAL NEWBORN 6419 03:52:01,909 --> 03:52:02,776 SCREENING PROGRAM RATHER THAN A 6420 03:52:02,776 --> 03:52:04,244 CONSENTED PILOT. 6421 03:52:04,244 --> 03:52:05,946 EVERY FAMILY HAS THE OPTION TO 6422 03:52:05,946 --> 03:52:07,648 OPT IN BUT IT IS NOT A RESEARCH 6423 03:52:07,648 --> 03:52:07,948 STUDY. 6424 03:52:07,948 --> 03:52:10,684 AT THIS POINT THEY SCREENED MORE 6425 03:52:10,684 --> 03:52:12,286 THAN 20,000 BABIES, HAVE NOT 6426 03:52:12,286 --> 03:52:14,388 IDENTIFIED ANY MALES BUT HAVE 6427 03:52:14,388 --> 03:52:15,389 IDENTIFIED FOUR FEMALE CARRIERS. 6428 03:52:15,389 --> 03:52:16,924 THE BOTTOM LINE IS WE HAVE HAD A 6429 03:52:16,924 --> 03:52:20,227 NUMBER OF DUCHENNE PILOTS IN A 6430 03:52:20,227 --> 03:52:21,328 NUMBER OF YEARS THAT WERE 6431 03:52:21,328 --> 03:52:22,296 SUCCESSFUL IN IDENTIFYING 6432 03:52:22,296 --> 03:52:23,230 CHILDREN WITH DUCHENNE'S. 6433 03:52:23,230 --> 03:52:26,567 SO WHAT ARE OUR NEXT STEPS? 6434 03:52:26,567 --> 03:52:28,736 SO GETTING TO UNIVERSAL NEWBORN 6435 03:52:28,736 --> 03:52:30,904 SCREENING FOR DUCHENNE, ONE OF 6436 03:52:30,904 --> 03:52:32,973 THE KEY STEPS IS GETTING 6437 03:52:32,973 --> 03:52:33,974 DUCHENNE ON THE RECOMMENDED 6438 03:52:33,974 --> 03:52:35,209 UNIFORM SCREENING PANEL. 6439 03:52:35,209 --> 03:52:36,310 I THINK MOST OF THIS BODY IS 6440 03:52:36,310 --> 03:52:37,945 FAMILIAR WITH THE RECOMMENDED 6441 03:52:37,945 --> 03:52:40,948 UNIFORM SCREENING PANEL OR THE 6442 03:52:40,948 --> 03:52:41,715 RUSP AS WE FONDLY CALL IT. 6443 03:52:41,715 --> 03:52:43,484 IT'S THE LIST OF DISORDERS THAT 6444 03:52:43,484 --> 03:52:46,020 THE SECRETARY OF THE DEPARTMENT 6445 03:52:46,020 --> 03:52:46,587 OF HEALTH AND HUMAN SERVICES 6446 03:52:46,587 --> 03:52:47,154 RECOMMENDS FOR EACH STATE. 6447 03:52:47,154 --> 03:52:48,756 SO WHILE THE STATES GET TO MAKE 6448 03:52:48,756 --> 03:52:50,624 THE ULTIMATE DECISION, THE 6449 03:52:50,624 --> 03:52:51,725 FEDERAL GOVERNMENT DOES PUT 6450 03:52:51,725 --> 03:52:52,493 TOGETHER A LIST OF CONDITIONS 6451 03:52:52,493 --> 03:52:53,694 THAT THEY RECOMMEND EVERY STATE 6452 03:52:53,694 --> 03:52:55,629 SCREEN FOR. 6453 03:52:55,629 --> 03:52:57,631 THIS LIST IS REVIEWED BY THE 6454 03:52:57,631 --> 03:52:59,633 ADVISORY COMMITTEE ON HERITABLE 6455 03:52:59,633 --> 03:53:00,901 DISORDERS IN NEWBORNS AND 6456 03:53:00,901 --> 03:53:05,272 CHILDREN. 6457 03:53:05,272 --> 03:53:07,341 SO GETTING ON THE RUSP FOR 6458 03:53:07,341 --> 03:53:08,442 DUCHENNE HAS A NUMBER OF 6459 03:53:08,442 --> 03:53:08,776 BENEFITS. 6460 03:53:08,776 --> 03:53:10,244 ONE OF THE KEY BENEFITS IS THAT 6461 03:53:10,244 --> 03:53:12,846 THERE IS RUSP ALIGNMENT 6462 03:53:12,846 --> 03:53:14,915 LEGISLATION IN 11 STATES NOW, 6463 03:53:14,915 --> 03:53:16,216 AND WHAT THAT MEANS IS THOSE 6464 03:53:16,216 --> 03:53:17,818 STATES HAVE STATE LEGISLATION IN 6465 03:53:17,818 --> 03:53:19,553 PLACE THAT SAYS WHEN A CONDITION 6466 03:53:19,553 --> 03:53:21,188 GETS ON THE RUSP, THAT STATE 6467 03:53:21,188 --> 03:53:22,489 WILL EITHER AUTOMATICALLY BEGIN 6468 03:53:22,489 --> 03:53:24,291 SCREENING FOR THAT CONDITION OR 6469 03:53:24,291 --> 03:53:26,627 WILL START A INDEPENDENT REVIEW 6470 03:53:26,627 --> 03:53:27,428 PROCESS TO START SCREENING FOR 6471 03:53:27,428 --> 03:53:29,663 THAT CONDITION. 6472 03:53:29,663 --> 03:53:31,865 AND EVEN IN STATES, WHICH IS THE 6473 03:53:31,865 --> 03:53:32,733 MAJORITY OF STATES, THAT DO NOT 6474 03:53:32,733 --> 03:53:35,069 HAVE R USP ALIGNMENT 6475 03:53:35,069 --> 03:53:36,737 LEGISLATION, BEING ON THE RUSP 6476 03:53:36,737 --> 03:53:39,239 REALLY LENDS VALIDITY, IT SAYS 6477 03:53:39,239 --> 03:53:40,541 THAT A CONDITION HAS BEEN 6478 03:53:40,541 --> 03:53:41,875 THROUGH A VERY THOROUGH ROUX VEE 6479 03:53:41,875 --> 03:53:43,310 PROCESS AND WE KNOW THERE ARE 6480 03:53:43,310 --> 03:53:44,578 BENEFITS TO SCREENING, AND IT 6481 03:53:44,578 --> 03:53:46,880 ALSO PROMPTS STATES TO START 6482 03:53:46,880 --> 03:53:48,415 CONSIDERING THAT CONDITION AS A 6483 03:53:48,415 --> 03:53:49,283 POTENTIAL ADDITION IN THEIR 6484 03:53:49,283 --> 03:53:50,584 STATE. 6485 03:53:50,584 --> 03:53:54,254 SO THE RUSP PROCESS IS LONG AND 6486 03:53:54,254 --> 03:53:55,789 INTENSE, AND IS SOMETHING THAT 6487 03:53:55,789 --> 03:53:57,091 PPMD AND OUR PARTNERS HAVE BEEN 6488 03:53:57,091 --> 03:53:58,292 WORKING ON FOR A NUMBER OF 6489 03:53:58,292 --> 03:53:59,293 YEARS. 6490 03:53:59,293 --> 03:54:00,294 SO WE ACTUALLY INITIALLY 6491 03:54:00,294 --> 03:54:01,962 SUBMITTED THE RUSP PACKAGE BACK 6492 03:54:01,962 --> 03:54:04,298 IN JUNE OF 2022. 6493 03:54:04,298 --> 03:54:05,966 FOR THOSE WHO AREN'T FAMILIAR, 6494 03:54:05,966 --> 03:54:07,534 YOUR NOMINATION PACKAGE CONSISTS 6495 03:54:07,534 --> 03:54:10,437 OF AN ACTUAL NOMINATION FORM 6496 03:54:10,437 --> 03:54:11,839 WHICH IS A SERIES OF QUESTIONS 6497 03:54:11,839 --> 03:54:13,707 THAT YOU ANSWER. 6498 03:54:13,707 --> 03:54:15,976 EVERY ANSWER YOU PROVIDE HAS TO 6499 03:54:15,976 --> 03:54:17,911 HAVE LITERATURE CITED, AND THEN 6500 03:54:17,911 --> 03:54:20,647 YOU SUBMIT THAT INITIALLY TO 6501 03:54:20,647 --> 03:54:21,915 HRSA, WHO REVIEWS IT FOR 6502 03:54:21,915 --> 03:54:22,549 COMPLETENESS. 6503 03:54:22,549 --> 03:54:23,250 THEY MAKE SURE ALL THE QUESTIONS 6504 03:54:23,250 --> 03:54:24,751 ARE ANSWERED AND THAT THERE'S 6505 03:54:24,751 --> 03:54:25,619 CITATIONS FOR EVERY QUESTION. 6506 03:54:25,619 --> 03:54:26,787 AFTER THAT STEP IS COMPLETE, IT 6507 03:54:26,787 --> 03:54:31,058 GOES TO A WORK GROUP WITHIN THE 6508 03:54:31,058 --> 03:54:33,227 ACHDND THAT'S CALLED NOMINATION 6509 03:54:33,227 --> 03:54:34,461 AND PRIORITIZATION WORK GROUP. 6510 03:54:34,461 --> 03:54:35,963 THAT GROUP IS A SUBSET THAT 6511 03:54:35,963 --> 03:54:36,897 REVIEWS THE PACKAGE LOOKING AT 6512 03:54:36,897 --> 03:54:38,999 SOME KEY QUESTIONS TO MAKE SURE 6513 03:54:38,999 --> 03:54:40,767 THAT PACKAGE IS ANSWERING THOSE 6514 03:54:40,767 --> 03:54:42,402 KEY QUESTIONS AND THE 6515 03:54:42,402 --> 03:54:43,370 INFORMATION IS NEEDED TO MOVE ON 6516 03:54:43,370 --> 03:54:45,205 TO NEXT STEPS. 6517 03:54:45,205 --> 03:54:47,374 AT THAT POINT, THE NOMINATION 6518 03:54:47,374 --> 03:54:48,475 AND PRIORITIZATION WORK GROUP 6519 03:54:48,475 --> 03:54:50,043 PRESENTS WHAT THEY FOUND AFTER 6520 03:54:50,043 --> 03:54:51,345 LOOKING AT THE PACKAGE TO THE 6521 03:54:51,345 --> 03:54:53,614 WHOLE COMMITTEE AND THEN THE 6522 03:54:53,614 --> 03:54:53,981 COMMITTEE VOTES. 6523 03:54:53,981 --> 03:54:54,681 FOR THOSE OF YOU WHO HAVE BEEN 6524 03:54:54,681 --> 03:54:56,016 FOLLOWING DUCHENNE NEWBORN 6525 03:54:56,016 --> 03:54:57,584 SCREENING, YOU WILL LIKELY BE 6526 03:54:57,584 --> 03:54:58,886 AWARE THAT THERE WAS A NO-VOTE 6527 03:54:58,886 --> 03:55:02,322 IN FEBRUARY OF 2023. 6528 03:55:02,322 --> 03:55:03,657 SO THE COMMITTEE FELT THERE 6529 03:55:03,657 --> 03:55:05,025 WASN'T ENOUGH EVIDENCE TO MOVE 6530 03:55:05,025 --> 03:55:05,492 THE PACKAGE FORWARD. 6531 03:55:05,492 --> 03:55:08,162 VERY SOON AFTER THAT NO-VOTE, 6532 03:55:08,162 --> 03:55:09,296 THE COMMITTEE REACHED OUT TO US 6533 03:55:09,296 --> 03:55:11,365 AND ASKED US TO MAKE SOME MINOR 6534 03:55:11,365 --> 03:55:12,766 MODIFICATIONS WITHIN THE PACKAGE 6535 03:55:12,766 --> 03:55:16,637 AND RESUBMIT. 6536 03:55:16,637 --> 03:55:17,538 SO THAT WAS SUBMITTED AT THE 6537 03:55:17,538 --> 03:55:18,772 BEGINNING OF THIS SUMMER AND 6538 03:55:18,772 --> 03:55:20,174 DURING THE AUGUST 2023 MEETING, 6539 03:55:20,174 --> 03:55:22,509 THE COMMITTEE VOTED YES TO MOVE 6540 03:55:22,509 --> 03:55:24,444 THE DUCHENNE PACKAGE FORWARD TO 6541 03:55:24,444 --> 03:55:24,811 EVIDENCE REVIEW. 6542 03:55:24,811 --> 03:55:26,246 SO THAT'S WHERE THE DUCHENNE 6543 03:55:26,246 --> 03:55:27,414 PACKAGE IS RIGHT NOW, AND I'LL 6544 03:55:27,414 --> 03:55:28,749 TALK A LITTLE BIT MORE ABOUT THE 6545 03:55:28,749 --> 03:55:29,449 EVIDENCE REVIEW PROCESS IN A 6546 03:55:29,449 --> 03:55:35,055 MINUTE. 6547 03:55:35,055 --> 03:55:36,557 REVIEW IS LEGISLATED TO BE NINE 6548 03:55:36,557 --> 03:55:36,790 MONTHS. 6549 03:55:36,790 --> 03:55:38,125 AT THE END OF THE EVIDENCE 6550 03:55:38,125 --> 03:55:38,892 REVIEW PROCESS, THE COMMITTEE 6551 03:55:38,892 --> 03:55:40,894 THEN GATHERS TOGETHER AND 6552 03:55:40,894 --> 03:55:41,528 DISCUSSES ALL THE THINGS THAT 6553 03:55:41,528 --> 03:55:43,597 HAVE BEEN FOUND THROUGH THE 6554 03:55:43,597 --> 03:55:44,631 EVIDENCE REVIEW AND VOTES. 6555 03:55:44,631 --> 03:55:45,966 RIGHT NOW WE'RE EXPECTING THAT 6556 03:55:45,966 --> 03:55:49,303 VOTE TO BE IN MAY OF 2024, 6557 03:55:49,303 --> 03:55:49,870 ALTHOUGH THINGS ARE ALWAYS 6558 03:55:49,870 --> 03:55:51,071 SUBJECT TO CHANGE. 6559 03:55:51,071 --> 03:55:52,906 IF THE COMMITTEE VOTES YES, THE 6560 03:55:52,906 --> 03:55:54,474 PACKAGE IS THEN MOVED ON TO THE 6561 03:55:54,474 --> 03:55:55,909 SECRETARY OF HEALTH AND HUMAN 6562 03:55:55,909 --> 03:55:57,044 SERVICES, WHO MAKES THE FINAL 6563 03:55:57,044 --> 03:55:57,911 DECISION ON WHETHER OR NOT TO 6564 03:55:57,911 --> 03:56:02,583 ADD THE CONDITION TO THE RUSP. 6565 03:56:02,583 --> 03:56:07,421 THIS PROCESS IS NEVER FAST. 6566 03:56:07,421 --> 03:56:09,823 THE VAST MAJORITY OF CONDITIONS 6567 03:56:09,823 --> 03:56:14,161 TAKE MORE THAN 24 MONTHS. 6568 03:56:14,161 --> 03:56:15,162 SO EVIDENCE REVIEW IS A LITTLE 6569 03:56:15,162 --> 03:56:16,330 BIT DIFFERENT THAN SOME OF THE 6570 03:56:16,330 --> 03:56:17,364 OTHER STEPS BECAUSE DURING 6571 03:56:17,364 --> 03:56:18,232 EVIDENCE REVIEW, THERE'S 6572 03:56:18,232 --> 03:56:22,236 ACTUALLY AN INTERNAL GROUP THAT 6573 03:56:22,236 --> 03:56:23,971 WORKS ON THE PACKAGE. 6574 03:56:23,971 --> 03:56:27,407 AND THAT GROUP CONSISTS OF A 6575 03:56:27,407 --> 03:56:29,142 NUMBER OF PEOPLE THAT ARE 6576 03:56:29,142 --> 03:56:31,645 ACTUALLY SITTING WITHIN THE 6577 03:56:31,645 --> 03:56:32,913 ACHDNC AS WELL AS A NUMBER OF 6578 03:56:32,913 --> 03:56:34,214 FEDERAL COMMITTEES. 6579 03:56:34,214 --> 03:56:36,083 A KEY PIECE OF THAT GROUP IS 6580 03:56:36,083 --> 03:56:37,150 CALLED THE TECHNICAL EXPERT 6581 03:56:37,150 --> 03:56:37,351 PANEL. 6582 03:56:37,351 --> 03:56:39,987 THAT INCLUDES REPRESENTATIVES 6583 03:56:39,987 --> 03:56:41,622 FROM THE NOMINATORS, SO IN 6584 03:56:41,622 --> 03:56:43,357 DUCHENNE'S NOMINATORS THAT WAS 6585 03:56:43,357 --> 03:56:45,859 PPMD AND THE MDA, AS WELL AS 6586 03:56:45,859 --> 03:56:46,793 CLINICAL EXPERTS AND EXPERTS 6587 03:56:46,793 --> 03:56:48,095 INVOLVED IN THE NEWBORN 6588 03:56:48,095 --> 03:56:49,029 SCREENING PILOTS FOR THAT 6589 03:56:49,029 --> 03:56:49,429 CONDITION. 6590 03:56:49,429 --> 03:56:53,967 SO THAT GROUP HAS THE JOB OF 6591 03:56:53,967 --> 03:56:55,402 COLLECTING THE DATA, CREATING A 6592 03:56:55,402 --> 03:56:56,403 FINAL REPORT, AND THEN 6593 03:56:56,403 --> 03:56:58,138 PRESENTING THAT REPORT BACK TO 6594 03:56:58,138 --> 03:56:59,906 THE ACHDNC. 6595 03:56:59,906 --> 03:57:01,141 THAT REPORT HISTORICALLY 6596 03:57:01,141 --> 03:57:05,012 INCLUDES A SYSTEMATIC EVIDENCE 6597 03:57:05,012 --> 03:57:06,513 REVIEW, SO THE EXTERNAL GROUP 6598 03:57:06,513 --> 03:57:08,181 ACTUALLY DOES ANOTHER LITERATURE 6599 03:57:08,181 --> 03:57:09,049 REVIEW OUTSIDE OF WHAT WAS 6600 03:57:09,049 --> 03:57:10,984 ALREADY PROVIDED TO THEM IN THE 6601 03:57:10,984 --> 03:57:12,486 NOMINATION PACKAGE. 6602 03:57:12,486 --> 03:57:14,421 AND THEN THERE'S ALSO A 6603 03:57:14,421 --> 03:57:15,856 COMPONENT WHERE THERE IS 6604 03:57:15,856 --> 03:57:17,958 DECISION ANALYSIS MODELING, SO 6605 03:57:17,958 --> 03:57:19,493 ESSENTIALLY THINKING ABOUT THERE 6606 03:57:19,493 --> 03:57:20,627 ARE 4 MILLION BABIES ROUGHLY 6607 03:57:20,627 --> 03:57:21,828 BORN IN THE U.S. EVERY YEAR. 6608 03:57:21,828 --> 03:57:23,563 WHAT WOULD HAPPEN IF WE HAD 6609 03:57:23,563 --> 03:57:24,731 NEWBORN SCREENING FOR ALL 6610 03:57:24,731 --> 03:57:27,334 4 MILLION OF THOSE BABIES, WHAT 6611 03:57:27,334 --> 03:57:30,170 WOULD WE SEE AS OUTCOMES, WHAT 6612 03:57:30,170 --> 03:57:31,405 WOULD WE EXPECT THAT TO LOOK 6613 03:57:31,405 --> 03:57:31,972 LIKE? 6614 03:57:31,972 --> 03:57:39,012 HE THTHEN THE LAST IS A PUBLIC H 6615 03:57:39,012 --> 03:57:41,048 SYSTEM IMPACT ASSESSMENT, COULD 6616 03:57:41,048 --> 03:57:42,316 YOU START SCREENING FOR DUCHENNE 6617 03:57:42,316 --> 03:57:45,152 AND WHAT KIND OF WOULD IT TAKE 6618 03:57:45,152 --> 03:57:47,187 TO GET YOU IN THE RIGHT PLACE TO 6619 03:57:47,187 --> 03:57:49,656 BE TO DO MORE SCREENING. 6620 03:57:49,656 --> 03:57:51,124 THERE HAVE BEEN CONVERSATIONS AT 6621 03:57:51,124 --> 03:57:52,492 THE MOST RECENT MEETINGS ABOUT 6622 03:57:52,492 --> 03:57:53,794 ALTERING THE WAY THIS IS SET UP, 6623 03:57:53,794 --> 03:57:54,928 ESPECIALLY THE PUBLIC HEALTH 6624 03:57:54,928 --> 03:57:56,196 ASSESSMENT. 6625 03:57:56,196 --> 03:57:57,597 IT'S BEEN -- THE INFORMATION IS 6626 03:57:57,597 --> 03:57:59,066 GATHERED FROM THOSE ASSESSMENTS 6627 03:57:59,066 --> 03:57:59,900 HASN'T NECESSARILY BEEN THAT 6628 03:57:59,900 --> 03:58:01,468 USEFUL IN SOME OF THE PAST 6629 03:58:01,468 --> 03:58:02,035 REVIEWS SO THE COMMITTEE IS 6630 03:58:02,035 --> 03:58:03,070 LOOKING AT HOW TO BETTER DO 6631 03:58:03,070 --> 03:58:04,204 THAT. 6632 03:58:04,204 --> 03:58:07,374 SO IT MIGHT BE DIFFERENT IN THE 6633 03:58:07,374 --> 03:58:07,607 FUTURE. 6634 03:58:07,607 --> 03:58:09,076 BECAUSE THIS IS TYPICALLY A NINE 6635 03:58:09,076 --> 03:58:11,078 MONTH EVIDENCE REVIEW PROCESS, 6636 03:58:11,078 --> 03:58:13,146 AND THE COMMITTEE USUALLY MEETS 6637 03:58:13,146 --> 03:58:14,314 QUARTERLY, THAT MEANS THAT EACH 6638 03:58:14,314 --> 03:58:17,517 CONDITION IS TI TYPICALLY DISCUD 6639 03:58:17,517 --> 03:58:18,785 OVER A TOTAL OF THREE MEETINGS 6640 03:58:18,785 --> 03:58:19,820 AT THE COMMITTEE. 6641 03:58:19,820 --> 03:58:20,554 SO DUCHENNE WAS DISCUSSED IN 6642 03:58:20,554 --> 03:58:23,323 NOVEMBER OF 2023, WE EXPECT TO 6643 03:58:23,323 --> 03:58:24,791 BE ON THE AGENDA FOR 6644 03:58:24,791 --> 03:58:27,027 JANUARY 2024, AND THEN AGAIN MA. 6645 03:58:27,027 --> 03:58:29,396 WHEN WE WOULD EXPECT THE VOTE TO 6646 03:58:29,396 --> 03:58:34,334 OCCUR. 6647 03:58:34,334 --> 03:58:39,172 SO THE RUSP IS -- IT'S A LOT BUT 6648 03:58:39,172 --> 03:58:40,440 IT'S ALSO JUST THE BEGINNING. 6649 03:58:40,440 --> 03:58:41,375 ONCE THE CONDITION IS ON THE 6650 03:58:41,375 --> 03:58:42,442 RUSP, YOU STILL HAVE TO GO BACK 6651 03:58:42,442 --> 03:58:44,344 TO THE STATES AND GET DUCHENNE 6652 03:58:44,344 --> 03:58:45,212 ADDED TO THE NEWBORN SCREENING 6653 03:58:45,212 --> 03:58:46,880 PANELS IN EVERY STATE. 6654 03:58:46,880 --> 03:58:48,715 EACH STATE DIFFERS ON HOW YOU DO 6655 03:58:48,715 --> 03:58:49,850 THAT PROCESS. 6656 03:58:49,850 --> 03:58:51,985 SOME STATES ENTIRELY USE 6657 03:58:51,985 --> 03:58:52,452 LEGISLATION. 6658 03:58:52,452 --> 03:58:53,787 SOME STATES HAVE ADVISORY PANELS 6659 03:58:53,787 --> 03:58:55,422 OR COMMITTEES THAT ARE SET UP 6660 03:58:55,422 --> 03:58:56,957 THAT ESSENTIALLY HAVE THEIR OWN 6661 03:58:56,957 --> 03:58:57,724 REVIEW PROCESS FOR EACH 6662 03:58:57,724 --> 03:58:58,759 CONDITION. 6663 03:58:58,759 --> 03:59:00,227 AND SOME STATES USE A 6664 03:59:00,227 --> 03:59:00,827 COMBINATION, WHERE THEY MIGHT 6665 03:59:00,827 --> 03:59:03,230 HAVE AN ADVISORY COMMITTEE OR A 6666 03:59:03,230 --> 03:59:04,431 REVIEW PANEL, BUT THEN THEY 6667 03:59:04,431 --> 03:59:05,799 REQUIRE LEGISLATION FOR THE 6668 03:59:05,799 --> 03:59:07,100 FUNDING THAT NEEDS TO HAPPEN TO 6669 03:59:07,100 --> 03:59:08,235 ADD A NEW CONDITION TO THEIR 6670 03:59:08,235 --> 03:59:09,703 NEWBORN SCREENING. 6671 03:59:09,703 --> 03:59:12,606 SO IT'S A COMPLICATED PROCESS 6672 03:59:12,606 --> 03:59:13,807 THAT, AGAIN, VARIES FROM STATE 6673 03:59:13,807 --> 03:59:18,412 TO STATE. 6674 03:59:18,412 --> 03:59:19,846 I JUST WANT TO TALK A LITTLE 6675 03:59:19,846 --> 03:59:21,014 ABOUT THE DETAILS OF HOW 6676 03:59:21,014 --> 03:59:21,982 DUCHENNE NEWBORN SCREENING IS 6677 03:59:21,982 --> 03:59:22,482 HAPPENING. 6678 03:59:22,482 --> 03:59:24,484 IN ALL CASES WHAT WE SUBMITTED 6679 03:59:24,484 --> 03:59:25,652 AS PART OF OUR RUSP NOMINATION 6680 03:59:25,652 --> 03:59:26,720 PACKAGE IS THAT THE FIRST TIER 6681 03:59:26,720 --> 03:59:31,258 SCREEN WOULD BE CK-MM, THE 6682 03:59:31,258 --> 03:59:32,826 MUSCLE ISOFORM OF CREATINE 6683 03:59:32,826 --> 03:59:33,226 KINASE. 6684 03:59:33,226 --> 03:59:35,729 IT IS SIGNIFICANTLY ELEVATED IN 6685 03:59:35,729 --> 03:59:40,400 DUCHENNE, AND IT IS AN FDA 6686 03:59:40,400 --> 03:59:41,802 AUTHORIZED KIT THAT IS RUN ON 6687 03:59:41,802 --> 03:59:45,071 THE REVVITY'S GSP MACHINE, WHICH 6688 03:59:45,071 --> 03:59:46,106 ARE COMMONLY USED IN ALL THE 6689 03:59:46,106 --> 03:59:47,107 NEWBORN SCREENING LABORATORIES 6690 03:59:47,107 --> 03:59:47,474 IN THE U.S. 6691 03:59:47,474 --> 03:59:49,776 SO THAT MAKES IT VERY 6692 03:59:49,776 --> 03:59:50,477 CONVENIENT. 6693 03:59:50,477 --> 03:59:53,380 IF A BABY HAS AN ELEVATED CK-MM, 6694 03:59:53,380 --> 03:59:55,549 THERE ARE REALLY TWO PRIMARY 6695 03:59:55,549 --> 03:59:56,116 ALGORITHMS THAT WE'VE SEEN 6696 03:59:56,116 --> 03:59:58,552 STATES TALK ABOUT USING. 6697 03:59:58,552 --> 03:59:59,986 THE FIRST IS IF THERE'S AN 6698 03:59:59,986 --> 04:00:04,691 ELEVATED CK-MM, THE NEXT STEP IS 6699 04:00:04,691 --> 04:00:05,725 THE DMD DNA TESTING WHICH WOULD 6700 04:00:05,725 --> 04:00:06,226 CONFIRM THE DIAGNOSIS. 6701 04:00:06,226 --> 04:00:07,594 THE OTHER OPTION THAT SOME 6702 04:00:07,594 --> 04:00:09,095 STATES ARE CONSIDERING IS GOING 6703 04:00:09,095 --> 04:00:12,833 FROM CK-MM TO A REPEAT CK-MM 6704 04:00:12,833 --> 04:00:13,467 COLLECTED SOMETIME AFTER A WEEK 6705 04:00:13,467 --> 04:00:15,135 OF AGE, AND THEN IF THAT SECOND 6706 04:00:15,135 --> 04:00:18,805 REPEAT CK-MM IS ELEVATED, THEN 6707 04:00:18,805 --> 04:00:20,974 THE DNA TESTING FOR DMD WOULD BE 6708 04:00:20,974 --> 04:00:21,374 PERFORMED. 6709 04:00:21,374 --> 04:00:23,977 THE REASON FOR THAT SECOND CK-MM 6710 04:00:23,977 --> 04:00:24,644 IS THAT ONE OF THE PRIMARY 6711 04:00:24,644 --> 04:00:26,713 CAUSES OF FALSE POSITIVES IN 6712 04:00:26,713 --> 04:00:27,347 NEWBORN SCREENING FOR DUCHENNE 6713 04:00:27,347 --> 04:00:29,216 IS ACTUALLY BIRTH TRAUMA. 6714 04:00:29,216 --> 04:00:30,851 SO WHEN YOU THINK ABOUT HOW 6715 04:00:30,851 --> 04:00:31,618 DIFFICULT LABOR AND DELIVERY CAN 6716 04:00:31,618 --> 04:00:33,820 BE ON A BABY, IT CAN CAUSE 6717 04:00:33,820 --> 04:00:35,322 ELEVATIONS IN CK-MM THAT 6718 04:00:35,322 --> 04:00:38,325 ACTUALLY DROP REALLY QEKLY. 6719 04:00:38,325 --> 04:00:38,625 QUICKLY SO 6720 04:00:38,625 --> 04:00:40,026 BY DAY 4 OF LIFE, THOSE 6721 04:00:40,026 --> 04:00:40,427 ELEVATIONS DROP. 6722 04:00:40,427 --> 04:00:43,029 IF YOU DO A REPEAT SAMPLE OR 6723 04:00:43,029 --> 04:00:43,797 YOU'RE A STATE THAT COLLECTS TWO 6724 04:00:43,797 --> 04:00:45,398 SAMPLE, ON THAT SECOND SAMPLE, 6725 04:00:45,398 --> 04:00:46,366 WE'RE GOING TO LOSE ALL THE 6726 04:00:46,366 --> 04:00:48,535 BABIES THAT HAD FALSE POSITIVE 6727 04:00:48,535 --> 04:00:49,970 ELEVATIONS RELATED TO BIRTH OR 6728 04:00:49,970 --> 04:00:54,574 DELIVERY TRAUMA. 6729 04:00:54,574 --> 04:00:56,910 AT THIS POINT, WE HAVE TWO 6730 04:00:56,910 --> 04:00:58,411 STATES WHO HAVE MANDATED NEWBORN 6731 04:00:58,411 --> 04:01:00,180 SCREENING FOR DUCHENNE, AND 6732 04:01:00,180 --> 04:01:03,950 WE'LL START LIKELY IN 2024, OHIO 6733 04:01:03,950 --> 04:01:04,284 AND NEW YORK. 6734 04:01:04,284 --> 04:01:07,087 AND THEN WE HAVE A THIRD STATE, 6735 04:01:07,087 --> 04:01:08,755 MINNESOTA, WHOSE ADVISORY 6736 04:01:08,755 --> 04:01:10,690 COMMITTEE WHO HAS APPROVED 6737 04:01:10,690 --> 04:01:12,058 DUCHENNE NEWBORN SCREENING BUT 6738 04:01:12,058 --> 04:01:14,828 IT'S UNDER FINAL STATE 6739 04:01:14,828 --> 04:01:16,096 COMMISSIONER REVIEW. 6740 04:01:16,096 --> 04:01:18,498 WE'RE HOPEFUL THAT IN EARLY 6741 04:01:18,498 --> 04:01:20,700 2024, THE STATE COMMISSIONER 6742 04:01:20,700 --> 04:01:22,002 WILL SIGN OFF ON THAT IN 6743 04:01:22,002 --> 04:01:22,402 MINNESOTA. 6744 04:01:22,402 --> 04:01:24,170 I DO WANT TO TALK A LITTLE BIT 6745 04:01:24,170 --> 04:01:25,071 ABOUT HOW DIFFERENT STATES ARE 6746 04:01:25,071 --> 04:01:28,108 APPROACHING THIS, JUST SO YOU 6747 04:01:28,108 --> 04:01:29,509 AGAIN CAN SEE HOW IT MIGHT VARY 6748 04:01:29,509 --> 04:01:31,578 FROM STATE TO STATE. 6749 04:01:31,578 --> 04:01:32,979 OHIO IS MANDATED TO START IN 6750 04:01:32,979 --> 04:01:37,350 MARCH OF 2024. 6751 04:01:37,350 --> 04:01:38,118 THEIR PROPOSED ALGORITHM STILL 6752 04:01:38,118 --> 04:01:39,019 UNDER DISCUSSION IS THAT THEY'RE 6753 04:01:39,019 --> 04:01:40,654 GOING TO DO A CK-MM, THEN 6754 04:01:40,654 --> 04:01:43,056 THEY'RE GOING TO DO A REPEAT 6755 04:01:43,056 --> 04:01:44,391 CK-MSM M IS THE FIRST IS 6756 04:01:44,391 --> 04:01:45,625 ELEVATED, THAT REPEAT WILL 6757 04:01:45,625 --> 04:01:47,561 HAPPEN ABOUT TWO TO FOUR WEEKS 6758 04:01:47,561 --> 04:01:47,794 OF AGE. 6759 04:01:47,794 --> 04:01:49,262 IF THAT REPEAT REMAINS ELEVATED, 6760 04:01:49,262 --> 04:01:51,031 THAT BABY WILL BE CONSIDERED TO 6761 04:01:51,031 --> 04:01:52,666 HAVE A POSITIVE NEWBORN 6762 04:01:52,666 --> 04:01:53,533 SCREENING, AND AT THAT POINT, 6763 04:01:53,533 --> 04:01:55,335 WOULD BE REFERRED TO A NEWBORN 6764 04:01:55,335 --> 04:01:57,571 SCREENING FOLLOW-UP SPECIALIST, 6765 04:01:57,571 --> 04:01:58,572 WHICH IN THE STATE OF OHIO IS 6766 04:01:58,572 --> 04:02:00,740 GOING TO BE EITHER A NEUROLOGIST 6767 04:02:00,740 --> 04:02:02,876 OR GENETICIST. 6768 04:02:02,876 --> 04:02:05,145 AT THAT POINT, THE NEWBORN 6769 04:02:05,145 --> 04:02:05,879 SCREENING FOLLOW-UP SPECIALIST 6770 04:02:05,879 --> 04:02:07,447 WILL MAKE THE DECISION ABOUT 6771 04:02:07,447 --> 04:02:08,815 WHAT GENETIC TESTING TO DO, BUT 6772 04:02:08,815 --> 04:02:11,184 WE WOULD ASSUME THAT IT WOULD BE 6773 04:02:11,184 --> 04:02:12,852 DMD DNA, BUT THEY MAY ALSO 6774 04:02:12,852 --> 04:02:14,354 CONSIDER SOME ADDITIONAL 6775 04:02:14,354 --> 04:02:16,156 NEUROMUSCULAR GENES FOR OTHER 6776 04:02:16,156 --> 04:02:16,957 MUSCULAR DYSTROPHIES. 6777 04:02:16,957 --> 04:02:19,960 THAT'S OHIO'S CURRENT PLAN. 6778 04:02:19,960 --> 04:02:20,894 MINNESOTA, WHICH AGAIN IS STILL 6779 04:02:20,894 --> 04:02:23,163 UNDER REVIEW BY THE STATE 6780 04:02:23,163 --> 04:02:25,031 COMMISSIONER, BUT THEIR ADVISORY 6781 04:02:25,031 --> 04:02:25,932 COMMITTEE ACTUALLY RECOMMENDED 6782 04:02:25,932 --> 04:02:27,734 AN ALGORITHM AS PART OF THEIR 6783 04:02:27,734 --> 04:02:28,802 REVIEW PROCESS. 6784 04:02:28,802 --> 04:02:30,170 AND THE RECOMMENDED ALGORITHM 6785 04:02:30,170 --> 04:02:31,771 BASED ON THEIR ADVISORY 6786 04:02:31,771 --> 04:02:34,307 COMMITTEE IS THAT IN THE EVENT 6787 04:02:34,307 --> 04:02:37,444 OF AN ELEVATED CK-MM, THAT WOULD 6788 04:02:37,444 --> 04:02:40,080 GOING DIRECTLY TO DMD DNA 6789 04:02:40,080 --> 04:02:41,381 GENETIC TESTING AND THEY WOULD 6790 04:02:41,381 --> 04:02:43,216 ONLY REPORT OUT PATHOGENIC OR 6791 04:02:43,216 --> 04:02:45,485 LIKELY PATHOGENIC VARIANTS IN 6792 04:02:45,485 --> 04:02:46,953 THE DMD GENE. 6793 04:02:46,953 --> 04:02:49,155 AT THE FINDING OF A PATHOGENIC 6794 04:02:49,155 --> 04:02:51,057 VARIANT IN THE DMD GENE, THAT 6795 04:02:51,057 --> 04:02:51,825 BABY WOULD BE REFERRED TO A 6796 04:02:51,825 --> 04:02:53,193 NEWBORN SCREENING FOLLOW-UP 6797 04:02:53,193 --> 04:02:55,328 SPECIALIST, WHICH AGAIN WOULD BE 6798 04:02:55,328 --> 04:02:57,130 EITHER A NEUROLOGIST OR 6799 04:02:57,130 --> 04:03:02,969 GENETICIST WITHIN THAT STATE. 6800 04:03:02,969 --> 04:03:04,371 SO AS I MENTIONED BEFORE, WE 6801 04:03:04,371 --> 04:03:05,605 HAVE THREE STATES THAT ARE VERY 6802 04:03:05,605 --> 04:03:06,339 FAR ALONG IN THE PROCESS, BUT 6803 04:03:06,339 --> 04:03:08,441 THERE ARE A NUMBER OF OTHER 6804 04:03:08,441 --> 04:03:10,810 STATES WHERE WE'RE AT, I WOULD 6805 04:03:10,810 --> 04:03:11,711 SAY SORT OF ENTRY LEVEL, WHERE 6806 04:03:11,711 --> 04:03:13,013 THE STATES HAVE HAD SOME 6807 04:03:13,013 --> 04:03:14,314 INTEREST IN DUCHENNE NEWBORN 6808 04:03:14,314 --> 04:03:16,483 SCREENING AND WE'VE HAD MEETINGS 6809 04:03:16,483 --> 04:03:18,585 WITH THE STATE ADVISORY 6810 04:03:18,585 --> 04:03:19,586 COMMITTEES OR INDIVIDUALS ON THE 6811 04:03:19,586 --> 04:03:21,221 STATE ADVISORY COMMITTEES. 6812 04:03:21,221 --> 04:03:23,256 AND THOSE STATES ARE HIGHLIGHTED 6813 04:03:23,256 --> 04:03:28,495 IN THE LIGHT BLUE HERE. 6814 04:03:28,495 --> 04:03:29,763 THERE'S A LOT OF WORK LEFT TO BE 6815 04:03:29,763 --> 04:03:31,498 DONE TO GET TO UNIVERSAL 6816 04:03:31,498 --> 04:03:32,966 DUCHENNE NEWBORN SCREENING. 6817 04:03:32,966 --> 04:03:34,901 SO WE CAN SEE HIGHLIGHTED IN 6818 04:03:34,901 --> 04:03:36,903 ORANGE, WE HAVE OUR STATE 6819 04:03:36,903 --> 04:03:38,371 EFFORTS SUPPORTING STATES THAT 6820 04:03:38,371 --> 04:03:39,339 ARE INTERESTED IN ADVOCACY AT 6821 04:03:39,339 --> 04:03:39,939 THE STATE LEVEL. 6822 04:03:39,939 --> 04:03:41,574 WE HAVE OUR CONTINUED EFFORTS TO 6823 04:03:41,574 --> 04:03:43,243 GET ON THE RUSP AND HOPEFULLY 6824 04:03:43,243 --> 04:03:44,711 THAT WILL HAPPEN IN 2024. 6825 04:03:44,711 --> 04:03:45,879 AND THEN WE HAVE THE OTHER 6826 04:03:45,879 --> 04:03:48,214 PIECES THAT WE REALLY NEED TO 6827 04:03:48,214 --> 04:03:49,115 HAVE IN PLACE TO SUPPORT AS 6828 04:03:49,115 --> 04:03:51,651 NEWBORN SCREENING BECOMES MORE 6829 04:03:51,651 --> 04:03:52,185 BROADLY AVAILABLE. 6830 04:03:52,185 --> 04:03:54,087 ONE OF THE KEY PIECES IS FAMILY 6831 04:03:54,087 --> 04:03:55,488 EDUCATION AND SUPPORT. 6832 04:03:55,488 --> 04:03:56,956 WHAT I NEGLECTED TO PUT ON THIS 6833 04:03:56,956 --> 04:03:58,024 SLIDE IS ACTUALLY PROVIDER 6834 04:03:58,024 --> 04:03:59,392 EDUCATION AND SUPPORT, SO WE 6835 04:03:59,392 --> 04:04:01,127 REALLY NEED TO PROVIDE A LOT 6836 04:04:01,127 --> 04:04:03,797 MORE EDUCATION FOR OUR 6837 04:04:03,797 --> 04:04:05,699 PEDIATRICIANS WHO -- NEWBORN 6838 04:04:05,699 --> 04:04:06,633 SCREENING FOR DUCHENNE WILL BE 6839 04:04:06,633 --> 04:04:07,600 BRAND NEW TO THEM, SO MAKING 6840 04:04:07,600 --> 04:04:08,768 SURE THEY ARE COMFORTABLE AND 6841 04:04:08,768 --> 04:04:09,602 FAMILIAR. 6842 04:04:09,602 --> 04:04:11,037 AND WE ALSO NEED TO BETTER 6843 04:04:11,037 --> 04:04:12,806 DEVELOP EARLY CARE GUIDELINES 6844 04:04:12,806 --> 04:04:14,674 FOR BABIES IDENTIFIED ON 6845 04:04:14,674 --> 04:04:19,713 DUCHENNE NEWBORN SCREENING. 6846 04:04:19,713 --> 04:04:21,147 PPMD HOSTED A MEETING LOOKING AT 6847 04:04:21,147 --> 04:04:23,583 CARE FROM ZERO TO 3 EARLY IN 6848 04:04:23,583 --> 04:04:25,018 2023 AND WE WANT TO FOLLOW UP 6849 04:04:25,018 --> 04:04:26,619 WITH THAT WITH MORE CLEAR 6850 04:04:26,619 --> 04:04:28,888 GUIDELINES TO HELP PROVIDERS AS 6851 04:04:28,888 --> 04:04:30,790 THESE BABIES ARE IDENTIFIED. 6852 04:04:30,790 --> 04:04:31,958 AND THAT'S IT. 6853 04:04:31,958 --> 04:04:32,559 SO THANK YOU VERY MUCH AND I'M 6854 04:04:32,559 --> 04:04:40,166 HAPPY TO TAKE QUESTIONS. 6855 04:04:40,166 --> 04:04:42,702 >> THANK YOU VERY MUCH, NIKI. 6856 04:04:42,702 --> 04:04:47,240 DO WE HAVE QUESTIONS? 6857 04:04:47,240 --> 04:04:49,409 >> IT LOOKS LIKE THERE'S ONE IN 6858 04:04:49,409 --> 04:04:52,979 THE CHAT FROM BRAD WILLIAMS? 6859 04:04:52,979 --> 04:04:54,714 >> PLEASE. 6860 04:04:54,714 --> 04:04:56,983 >> SO THE QUESTION ABOUT DO WE 6861 04:04:56,983 --> 04:04:58,218 HAVE A PROPORTION OF BABIES WITH 6862 04:04:58,218 --> 04:05:00,720 HIGH CK THAT WOULD HAVE MUSCULAR 6863 04:05:00,720 --> 04:05:01,521 DYSTROPHIES OTHER THAN DUCHENNE 6864 04:05:01,521 --> 04:05:02,922 IS A REALLY GOOD ONE. 6865 04:05:02,922 --> 04:05:03,723 SOME OF THAT'S GOING TO DEPEND 6866 04:05:03,723 --> 04:05:05,325 ON WHAT THAT PARTICULAR STATE 6867 04:05:05,325 --> 04:05:06,359 CHOOSES AS THE CUTOFF. 6868 04:05:06,359 --> 04:05:08,828 THE CK ELEVATIONS IN DUCHENNE 6869 04:05:08,828 --> 04:05:11,064 ARE MUCH HIGHER THAN MOST OF THE 6870 04:05:11,064 --> 04:05:13,199 OTHER MUSCULAR DYSTROPHIES. 6871 04:05:13,199 --> 04:05:16,002 SO IF A STATE CHOOSES A HIGHER 6872 04:05:16,002 --> 04:05:18,004 CUTOFF, OUR LIKELIHOOD OF 6873 04:05:18,004 --> 04:05:20,507 IDENTIFYING OTHER MUSCULAR 6874 04:05:20,507 --> 04:05:21,107 DYSTROPHYs IS ACTUALLY GOING 6875 04:05:21,107 --> 04:05:21,875 TO BE MUCH LESS. 6876 04:05:21,875 --> 04:05:23,276 THAT BEING SAID, WHEN WE LOOK AT 6877 04:05:23,276 --> 04:05:24,711 THE PILOTS THAT HAVE BEEN 6878 04:05:24,711 --> 04:05:26,279 CONDUCTED THUS FAR, THE NEW YORK 6879 04:05:26,279 --> 04:05:28,815 STATE PILOT DIDN'T IDENTIFY ANY 6880 04:05:28,815 --> 04:05:31,518 OTHER MUSCULAR DYSTROPHIES. 6881 04:05:31,518 --> 04:05:36,456 THE PILOT IN THE BOSTON BRIGHAM 6882 04:05:36,456 --> 04:05:37,690 PROGRAM HAS ALSO NOT IDENTIFIED 6883 04:05:37,690 --> 04:05:38,925 ANY OTHER MUSCULAR DYSTROPHIES. 6884 04:05:38,925 --> 04:05:41,127 HOWEVER, THE NORTH CAROLINA RTI 6885 04:05:41,127 --> 04:05:44,197 PROJECT DID IDENTIFY ONE BABY 6886 04:05:44,197 --> 04:05:47,534 WITH A CONGENITAL -- WELL, WITH 6887 04:05:47,534 --> 04:05:50,970 A SORT OF -- IT LOOKS LIKE 6888 04:05:50,970 --> 04:05:57,477 AUTOSOMAL DOMINANT MYOTONIA 6889 04:05:57,477 --> 04:05:59,012 SYNDROME BUT THE AFFECTED PARENT 6890 04:05:59,012 --> 04:06:01,114 IS DOING VERY WELL SO THAT WAS 6891 04:06:01,114 --> 04:06:05,785 JUST A LITTLE BIT -- BUT NO 6892 04:06:05,785 --> 04:06:07,954 OTHER. 6893 04:06:07,954 --> 04:06:11,758 >> JENNIFER IS VOLUNTEERING 6894 04:06:11,758 --> 04:06:14,394 CHARLIE'S CK LEVEL, WHICH WAS 6895 04:06:14,394 --> 04:06:15,695 EXTREMELY HIGH AT THE TIME OF 6896 04:06:15,695 --> 04:06:19,499 HIS DIAGNOSIS. 6897 04:06:19,499 --> 04:06:21,167 NEXT WE'RE GOING TO HAVE 6898 04:06:21,167 --> 04:06:23,269 DR. BILL ROONEY FROM OREGON 6899 04:06:23,269 --> 04:06:25,772 HEALTH AND SCIENCES UNIVERSITY. 6900 04:06:25,772 --> 04:06:27,106 HE'S GOING TO TELL US ABOUT THE 6901 04:06:27,106 --> 04:06:29,275 DEVELOPMENT OF A CLINICAL TRIAL 6902 04:06:29,275 --> 04:06:30,677 SIMULATION TOOL THAT IS 6903 04:06:30,677 --> 04:06:32,712 CURRENTLY UNDER REVIEW BY THE 6904 04:06:32,712 --> 04:06:35,615 FDA AND THE EMA. 6905 04:06:35,615 --> 04:06:35,815 BILL. 6906 04:06:35,815 --> 04:06:37,383 >> SORRY TO INTERRUPT, 6907 04:06:37,383 --> 04:06:37,951 DR. BIANCHI. 6908 04:06:37,951 --> 04:06:39,652 I THINK THERE WAS A QUESTION 6909 04:06:39,652 --> 04:06:40,587 FROM MICHAEL GOLDSTEIN. 6910 04:06:40,587 --> 04:06:42,322 >> YEAH, IF I COULD FOR JUST A 6911 04:06:42,322 --> 04:06:43,990 MINUTE, I DON'T WANT TO -- I 6912 04:06:43,990 --> 04:06:45,825 KNOW THAT WE'RE RUNNING A LITTLE 6913 04:06:45,825 --> 04:06:48,862 SHORT ON TIME BUT -- AND I ALSO 6914 04:06:48,862 --> 04:06:53,333 REALIZE THAT THIS IS LIKELY 6915 04:06:53,333 --> 04:06:54,334 ELEMENTARY, MY INQUIRY FOR A LOT 6916 04:06:54,334 --> 04:06:55,501 OF THE RESEARCHERS AND THOSE 6917 04:06:55,501 --> 04:06:58,304 THAT HAVE A MUCH GREATER DEPTH 6918 04:06:58,304 --> 04:07:01,174 OF KNOWLEDGE THAN I DO, BUT I 6919 04:07:01,174 --> 04:07:03,142 WAS HOPING THAT MAYBE THERE 6920 04:07:03,142 --> 04:07:06,012 COULD JUST BE A BRIEF DISCUSSION 6921 04:07:06,012 --> 04:07:08,248 PERHAPS ON SOME OF THE 6922 04:07:08,248 --> 04:07:10,250 DIFFERENCES, BECAUSE IT'S VERY 6923 04:07:10,250 --> 04:07:12,352 RELEVANT FROM MY SEAT, THE 6924 04:07:12,352 --> 04:07:12,986 DIFFERENCES IN THE COURSE OF 6925 04:07:12,986 --> 04:07:15,722 CARE AND POTENTIAL OUTCOMES 6926 04:07:15,722 --> 04:07:19,459 BEYOND THE KIND OF OBVIOUS 6927 04:07:19,459 --> 04:07:21,995 PLANNING OF THESE NEWBORN 6928 04:07:21,995 --> 04:07:24,097 SCREENINGS AND THE 6929 04:07:24,097 --> 04:07:26,633 IDENTIFICATION AS A NEWBORN IN 6930 04:07:26,633 --> 04:07:28,835 COMPARISON TO A DIAGNOSIS AT AGE 6931 04:07:28,835 --> 04:07:32,238 2, AND IF THERE IS A SIGNIFICANT 6932 04:07:32,238 --> 04:07:34,540 OUT COME DIFFERENCE, IF WE COULD 6933 04:07:34,540 --> 04:07:35,308 HAVE MAYBE JUST -- IF I COULD 6934 04:07:35,308 --> 04:07:37,477 GET A BRIEF SYNOPSIS OF LIKE THE 6935 04:07:37,477 --> 04:07:39,779 NEXT STEPS. 6936 04:07:39,779 --> 04:07:40,446 >> SURE. 6937 04:07:40,446 --> 04:07:41,981 AND FROM A DUCHENNE PERSPECTIVE, 6938 04:07:41,981 --> 04:07:42,949 I THINK IT'S IMPORTANT TO KEEP 6939 04:07:42,949 --> 04:07:44,918 IN MIND THAT THE TYPICAL AGE OF 6940 04:07:44,918 --> 04:07:47,453 DIAGNOSIS OF DUCHENNE IS BETWEEN 6941 04:07:47,453 --> 04:07:49,455 4 AND 5, AND AT THAT POINT, KIDS 6942 04:07:49,455 --> 04:07:50,490 HAVE SIGNIFICANT MUSCLE DAMAGE 6943 04:07:50,490 --> 04:07:51,591 ALREADY. 6944 04:07:51,591 --> 04:07:53,359 WHICH IS IRREVERSIBLE. 6945 04:07:53,359 --> 04:07:54,661 THE OTHER PIECE TO RECOGNIZE IS 6946 04:07:54,661 --> 04:07:56,930 THAT WHILE THE AVERAGE AGE IS 6947 04:07:56,930 --> 04:07:58,831 BETWEEN 4 AND 5, WE KNOW THAT 6948 04:07:58,831 --> 04:08:00,633 THERE ARE KIDS -- THE KIDS THAT 6949 04:08:00,633 --> 04:08:02,835 COME FROM UNDERSERVED 6950 04:08:02,835 --> 04:08:03,836 COMMUNITIES, THE KIDS WHO HAVE 6951 04:08:03,836 --> 04:08:05,705 OTHER DIAGNOSES SUCH AS AUTISM, 6952 04:08:05,705 --> 04:08:07,173 WHICH IS MORE COMMON IN 6953 04:08:07,173 --> 04:08:08,441 DUCHENNE, THOSE KID ARE EVEN 6954 04:08:08,441 --> 04:08:12,078 LATER TO DIAGNOSIS. 6955 04:08:12,078 --> 04:08:14,747 WHICH IS A HUGE ISSUE WHEN THE 6956 04:08:14,747 --> 04:08:19,285 CARE IS SUPPOSED TO THE AT LEAST 6957 04:08:19,285 --> 04:08:20,787 START BY AGE 4 BUT WOULD YOU 6958 04:08:20,787 --> 04:08:22,355 HOPE EVEN EARLIER THAN THAT, AND 6959 04:08:22,355 --> 04:08:24,724 ESPECIALLY IT'S BECOME AN ISSUE 6960 04:08:24,724 --> 04:08:26,626 BECAUSE OF THE LEVITIS APPROVAL 6961 04:08:26,626 --> 04:08:28,261 WHICH IS FOR 4 TO 5-YEAR-OLDS 6962 04:08:28,261 --> 04:08:30,029 AND GIVEN THE NUMBER OF KIDS 6963 04:08:30,029 --> 04:08:31,998 DIAGNOSED AFTER 5 SINCE THE 6964 04:08:31,998 --> 04:08:33,399 AVERAGE AGE IS 5, THOSE KIDS ARE 6965 04:08:33,399 --> 04:08:35,034 NO LONGER ELIGIBLE FOR LEVITIS 6966 04:08:35,034 --> 04:08:37,003 BECAUSE OF THEIR AGE OF 6967 04:08:37,003 --> 04:08:37,303 DIAGNOSIS. 6968 04:08:37,303 --> 04:08:39,605 SO FROM THAT PERSPECTIVE, IT'S 6969 04:08:39,605 --> 04:08:41,274 REALLY IMPORTANT WE'VE GOT 6970 04:08:41,274 --> 04:08:42,408 SIGNIFICANT MUSCLE DAMAGE AT THE 6971 04:08:42,408 --> 04:08:44,644 TIME OF DIAGNOSIS AND THE EXON 6972 04:08:44,644 --> 04:08:45,678 SKIPPING THERAPIES ARE APPROVED 6973 04:08:45,678 --> 04:08:47,547 FOR ALL AGES, SO CHILDREN WHO 6974 04:08:47,547 --> 04:08:49,615 ARE ELIGIBLE FOR THE EXON 6975 04:08:49,615 --> 04:08:50,550 SKIPPING THERAPIES, AND THAT'S 6976 04:08:50,550 --> 04:08:52,719 ABOUT 30% OF DUCHENNE'S, CAN 6977 04:08:52,719 --> 04:08:53,987 START THOSE AT ANY AGE. 6978 04:08:53,987 --> 04:08:56,155 WE'RE AWARE OF A -- IN A FAIR 6979 04:08:56,155 --> 04:08:58,725 NUMBER OF KIDS THAT ARE STARTING 6980 04:08:58,725 --> 04:09:01,027 RIGHT BEFORE OR AROUND AGE 1 AT 6981 04:09:01,027 --> 04:09:02,528 THIS POINT, I WOULD SAY ONE OF 6982 04:09:02,528 --> 04:09:04,931 THE BIGGEST ISSUES HAS BEEN THAT 6983 04:09:04,931 --> 04:09:06,299 DIAGNOSIS DOESN'T TYPICALLY 6984 04:09:06,299 --> 04:09:08,234 OCCUR IN BABIES, SO IT'S VERY 6985 04:09:08,234 --> 04:09:09,702 HARD TO COLLECT SIGNIFICANT 6986 04:09:09,702 --> 04:09:11,938 AMOUNTS OF DATA ABOUT TREATING 6987 04:09:11,938 --> 04:09:13,106 BABIES TO KNOW WHAT THE LONG 6988 04:09:13,106 --> 04:09:14,307 TERM IMPACTS ARE. 6989 04:09:14,307 --> 04:09:16,809 THE OTHER PIECE THAT'S REALLY 6990 04:09:16,809 --> 04:09:17,810 COMPLICATED IS THE FACT THAT 6991 04:09:17,810 --> 04:09:19,746 DUCHENNE HAS A REALLY SLOW 6992 04:09:19,746 --> 04:09:20,046 PROGRESSION. 6993 04:09:20,046 --> 04:09:21,080 SOME OF THE VERY COMMON OUT COME 6994 04:09:21,080 --> 04:09:22,482 MEASURES THAT WE USE, ESPECIALLY 6995 04:09:22,482 --> 04:09:25,585 IN REAL WORLD DATA LIKE LOSS OF 6996 04:09:25,585 --> 04:09:30,390 AMBULATION DOES TAKE FOWRP OR 1R 6997 04:09:30,390 --> 04:09:31,591 LONGER YEARS TO SEE, SO IT'S 6998 04:09:31,591 --> 04:09:32,658 BEEN DIFFICULT TO MEASURE FROM 6999 04:09:32,658 --> 04:09:33,559 THAT PERSPECTIVE. 7000 04:09:33,559 --> 04:09:34,961 >> THANK YOU. 7001 04:09:34,961 --> 04:09:35,495 THAT'S VERY INFORMATIVE. 7002 04:09:35,495 --> 04:09:39,532 THANK YOU. 7003 04:09:39,532 --> 04:09:40,533 >> OKAY. 7004 04:09:40,533 --> 04:09:43,870 THANK YOU AGAIN TO MS. ARMST 7005 04:09:43,870 --> 04:09:44,470 MS. ARMSTRONG, AND WE'RE GOING 7006 04:09:44,470 --> 04:09:47,173 TO GO OVER TO BILL ROONEY, WHO 7007 04:09:47,173 --> 04:09:48,474 IS ALL -- HE'S ONLINE AND HE'S 7008 04:09:48,474 --> 04:09:49,876 GOT HIS SLIDES DIALED UP SO 7009 04:09:49,876 --> 04:09:51,177 WE'RE OVER TO YOU, BILL. 7010 04:09:51,177 --> 04:09:52,612 >> OKAY, THANK YOU. 7011 04:09:52,612 --> 04:09:54,180 CAN EVERYBODY HEAR ME OKAY? 7012 04:09:54,180 --> 04:09:55,748 >> WE CAN HEAR YOU PERFECTLY. 7013 04:09:55,748 --> 04:09:56,649 >> OKAY. 7014 04:09:56,649 --> 04:09:57,383 THANK YOU. 7015 04:09:57,383 --> 04:10:00,553 WELL, I'D LIKE TO THANK GLEN 7016 04:10:00,553 --> 04:10:01,487 NUCKOLLS FOR THE OPPORTUNITY TO 7017 04:10:01,487 --> 04:10:01,754 PRESENT. 7018 04:10:01,754 --> 04:10:04,290 THIS IS WORK THAT WAS STARTED 7019 04:10:04,290 --> 04:10:04,690 ACTUALLY IN 2010. 7020 04:10:04,690 --> 04:10:07,326 IT'S AN NIH-FUNDED PROJECT 7021 04:10:07,326 --> 04:10:08,961 THROUGH NIAMS AND NINDS. 7022 04:10:08,961 --> 04:10:10,696 AND MORE RECENTLY, WE'VE TEAMED 7023 04:10:10,696 --> 04:10:15,868 WITH C-PATH, RAMONA 7024 04:10:15,868 --> 04:10:16,669 BELFIORE-OSHAN IS IN THE 7025 04:10:16,669 --> 04:10:18,037 AUDIENCE AND SHE HAS BEEN REALLY 7026 04:10:18,037 --> 04:10:20,606 GREAT TO WORK WITH TO MOVE SOME 7027 04:10:20,606 --> 04:10:22,608 OF THESE BIOMARKERS FORWARD TO A 7028 04:10:22,608 --> 04:10:23,776 CLINICAL TRIAL SIMULATION TOOL. 7029 04:10:23,776 --> 04:10:26,412 SO I'LL JUST REVIEW SOME OF THAT 7030 04:10:26,412 --> 04:10:26,579 NOW. 7031 04:10:26,579 --> 04:10:28,614 SO THERE'S REALLY AN UNMET NEED 7032 04:10:28,614 --> 04:10:30,016 FOR CLINICAL TRIAL SIMULATION 7033 04:10:30,016 --> 04:10:30,750 TOOLS. 7034 04:10:30,750 --> 04:10:33,352 IMAGING IN ITSELF DOESN'T CURE 7035 04:10:33,352 --> 04:10:34,454 DISEASE. 7036 04:10:34,454 --> 04:10:36,122 BUT THESE IMAGING MEASURES ARE 7037 04:10:36,122 --> 04:10:38,524 SENSITIVE AND THEY CAN REALLY 7038 04:10:38,524 --> 04:10:43,763 HELP ASSIST TRIAL DESIGN IN THE 7039 04:10:43,763 --> 04:10:45,364 SENSE THAT THESE SENSITIVE 7040 04:10:45,364 --> 04:10:46,899 BIOMARKERS ARE NONINVASIVE, THEY 7041 04:10:46,899 --> 04:10:48,968 CAN TRACK DISEASE IN BOTH 7042 04:10:48,968 --> 04:10:50,403 AMBULATORY AND NON-AMBULATORY 7043 04:10:50,403 --> 04:10:52,805 INDIVIDUALS, AND THEY'RE REALLY 7044 04:10:52,805 --> 04:10:57,610 AN ADJUVANT THAT CAN BE USED TO 7045 04:10:57,610 --> 04:10:58,744 ACCELERATE DRUG DISCOVERY. 7046 04:10:58,744 --> 04:11:00,780 SO BOTH THE U.S. FOOD AND DRUG 7047 04:11:00,780 --> 04:11:02,415 ADMINISTRATION AND EMA HAVE 7048 04:11:02,415 --> 04:11:03,950 STATED A PRIORITY TO DEVELOP 7049 04:11:03,950 --> 04:11:04,484 IMPROVED UNDERSTANDING OF 7050 04:11:04,484 --> 04:11:05,518 DISEASE PROGRESSION IN RARE 7051 04:11:05,518 --> 04:11:06,886 DISEASE. 7052 04:11:06,886 --> 04:11:08,754 AND THIS UNMET NEED REMAINS TO 7053 04:11:08,754 --> 04:11:12,692 BETTER UNDERSTAND THE 7054 04:11:12,692 --> 04:11:14,160 RELATIONSHIP BETWEEN DISEASE -- 7055 04:11:14,160 --> 04:11:15,761 LONGITUDAL DISEASE DYNAMICS AND 7056 04:11:15,761 --> 04:11:17,063 CLINICALLY MEANINGFUL OUT COME 7057 04:11:17,063 --> 04:11:17,663 MEASURES. 7058 04:11:17,663 --> 04:11:20,166 AND MRI HAS A NUMBER OF THEM I 7059 04:11:20,166 --> 04:11:22,735 WILL DESCRIBE THE FACT FRACTION 7060 04:11:22,735 --> 04:11:23,102 MEASURE TODAY. 7061 04:11:23,102 --> 04:11:24,437 TO ACHIEVE THIS, HIGH QUALITY 7062 04:11:24,437 --> 04:11:25,938 NATURAL HISTORY STUDIES THAT 7063 04:11:25,938 --> 04:11:28,875 TRACK SENSITIVE BIOMARKERS OVER 7064 04:11:28,875 --> 04:11:31,177 APPROPRIATE TIME SCALES CAN BE 7065 04:11:31,177 --> 04:11:33,279 USED TO GENERATE MATHEMATICAL 7066 04:11:33,279 --> 04:11:35,915 MODELS OF DISEASE PROGRESSION 7067 04:11:35,915 --> 04:11:37,150 AND IT'S THESE MATHEMATICAL 7068 04:11:37,150 --> 04:11:39,218 MODELS AND RELATED STATISTICAL 7069 04:11:39,218 --> 04:11:42,755 APPROACHES WHICH FORM THE KERNEL 7070 04:11:42,755 --> 04:11:44,056 FOR THE CLINICAL TRIAL 7071 04:11:44,056 --> 04:11:44,624 SIMULATION TOOL. 7072 04:11:44,624 --> 04:11:48,361 REALLY THIS WAS THE POINT OF THE 7073 04:11:48,361 --> 04:11:50,863 IMAGING DMD, NOW IMAGING NMD 7074 04:11:50,863 --> 04:11:51,497 TRIAL. 7075 04:11:51,497 --> 04:11:53,499 SO JUST A BRIEF BACKGROUND ON 7076 04:11:53,499 --> 04:11:54,033 THIS. 7077 04:11:54,033 --> 04:11:58,437 THIS IS A TRIAL THAT WAS 7078 04:11:58,437 --> 04:11:59,639 ESTABLISHED IN 2010. 7079 04:11:59,639 --> 04:12:02,808 IT'S CURRENTLY FUNDED THROUGH 7080 04:12:02,808 --> 04:12:04,911 2025. 7081 04:12:04,911 --> 04:12:07,513 THIS IS A NATURAL HISTORY STUDY, 7082 04:12:07,513 --> 04:12:09,382 OVER 1200 SUBJECT VISITS HAVE 7083 04:12:09,382 --> 04:12:11,817 OCCURRED SINCE 2010. 7084 04:12:11,817 --> 04:12:13,653 WITH LONGITUDAL DATA GOING OUT 7085 04:12:13,653 --> 04:12:14,820 TO 10 YEARS IN SOME INDIVIDUALS. 7086 04:12:14,820 --> 04:12:16,722 THERE ARE 50 AGE MATCHED 7087 04:12:16,722 --> 04:12:17,323 CONTROLS. 7088 04:12:17,323 --> 04:12:19,825 WE'VE UTILIZED QUANTITATIVE MRI 7089 04:12:19,825 --> 04:12:21,060 AND MRS, AND THEN IN ADDITION TO 7090 04:12:21,060 --> 04:12:22,395 THAT, MULTIPLE FUNCTIONAL AND 7091 04:12:22,395 --> 04:12:23,863 STRENGTH MEASURES. 7092 04:12:23,863 --> 04:12:26,632 AND THIS IS A TRIAL THAT'S 7093 04:12:26,632 --> 04:12:30,403 STARTED WITH THREE PRINCIPAL 7094 04:12:30,403 --> 04:12:30,736 SITE. 7095 04:12:30,736 --> 04:12:32,338 THE MAIN SITE IS IN GAINESVILLE 7096 04:12:32,338 --> 04:12:33,773 UNDER THE LEADERSHIP OF THE 7097 04:12:33,773 --> 04:12:38,778 PROJECT VI, AND IN PORTLAND, 7098 04:12:38,778 --> 04:12:40,980 OREGON AT MY INSTITUTION, OREGON 7099 04:12:40,980 --> 04:12:41,581 SCIENCE AND HEALTH UNIVERSITY, 7100 04:12:41,581 --> 04:12:43,549 AND AT CHILDREN'S HOSPITAL OF 7101 04:12:43,549 --> 04:12:45,184 PHILADELPHIA. 7102 04:12:45,184 --> 04:12:48,588 SO MAGNETIC RESONANCE 7103 04:12:48,588 --> 04:12:50,056 SPECTROSCOPY PROVIDES A MEASURE 7104 04:12:50,056 --> 04:12:51,724 OF MUSCLE FAT FRACTION, AND IN 7105 04:12:51,724 --> 04:12:54,293 THE SLIDE UP HERE, YOU CAN SEE 7106 04:12:54,293 --> 04:12:55,895 WITH MY POINTER, YOU CAN SEE A 7107 04:12:55,895 --> 04:12:57,563 HEALTHY CONTROL. 7108 04:12:57,563 --> 04:12:58,497 THIS MUSCLE DOESN'T HAVE A LOT 7109 04:12:58,497 --> 04:13:00,066 OF BRIGHTNESS IN THE 7110 04:13:00,066 --> 04:13:01,033 INTRAMUSCULAR SPACE. 7111 04:13:01,033 --> 04:13:02,401 THIS IS A HEALTHY CONTROL, AND 7112 04:13:02,401 --> 04:13:05,805 OVER HERE ARE JUST THREE YEARS 7113 04:13:05,805 --> 04:13:07,974 FOR A YOUNG BOY WITH DUCHENNE 7114 04:13:07,974 --> 04:13:11,811 MUSCULAR DYSTROPHY STARTING AT . 7115 04:13:11,811 --> 04:13:13,079 YOU CAN REALLY SEE THE 7116 04:13:13,079 --> 04:13:14,380 BRIGHTNESS IN THE MUSCLE. 7117 04:13:14,380 --> 04:13:15,748 THAT'S JUST AN INDICATION OF THE 7118 04:13:15,748 --> 04:13:15,915 FAT. 7119 04:13:15,915 --> 04:13:17,149 SO WE CAN QUANTIFY THAT FAT WITH 7120 04:13:17,149 --> 04:13:20,119 A TECHNIQUE CALLED SPECTROSCOPY. 7121 04:13:20,119 --> 04:13:20,886 THERE ARE A FEW SPECTRUMS SHOWN 7122 04:13:20,886 --> 04:13:21,254 HERE. 7123 04:13:21,254 --> 04:13:23,756 YOU CAN SEE A VERY INTENSE PEAK 7124 04:13:23,756 --> 04:13:25,258 FROM WATER IN THE HEALTHY 7125 04:13:25,258 --> 04:13:26,125 CONTROL AND A REALLY SMALL PEAK 7126 04:13:26,125 --> 04:13:26,692 FROM FAT. 7127 04:13:26,692 --> 04:13:28,794 IN THE DMD BOY, YOU CAN SEE THE 7128 04:13:28,794 --> 04:13:33,132 WATER PEAK IS DIMINISHED, THE 7129 04:13:33,132 --> 04:13:34,133 FAT PEAK INCREASED AND THAT FAT 7130 04:13:34,133 --> 04:13:34,834 PEAK INCREASES WITH TIME. 7131 04:13:34,834 --> 04:13:37,470 SO WE CAN QUANTIFY THAT AND USE 7132 04:13:37,470 --> 04:13:38,738 THAT AS A BIOMARKER FOR DISEASE 7133 04:13:38,738 --> 04:13:39,205 PROGRESSION. 7134 04:13:39,205 --> 04:13:42,141 SO THE INVOLVEMENT IN THE 7135 04:13:42,141 --> 04:13:42,942 DISEASE IS SHOWN HERE. 7136 04:13:42,942 --> 04:13:45,011 IN THE EARLY PHASE, RATE OF 7137 04:13:45,011 --> 04:13:46,846 MUSCLE LOSS IS LOW DUE TO A LOW 7138 04:13:46,846 --> 04:13:48,281 CUMULATIVE INJURY AND A 7139 04:13:48,281 --> 04:13:49,849 FUNCTIONAL REPARATIVE PROCESS. 7140 04:13:49,849 --> 04:13:50,950 IN THE MIDDLE RANGE, THE RATE OF 7141 04:13:50,950 --> 04:13:52,752 MUSCLE LOSS IS HIGH. 7142 04:13:52,752 --> 04:13:55,421 WHEN MUSCLE CELLS ARE ABUNDANT 7143 04:13:55,421 --> 04:13:57,823 AND A CUMULATIVE INJURY EXCEEDS 7144 04:13:57,823 --> 04:13:59,692 REPARATIVE CAPACITY. 7145 04:13:59,692 --> 04:14:02,161 IN THE LATE PHASE, MUSCLE IS 7146 04:14:02,161 --> 04:14:03,796 LOST SO THERE'S JUST NOT A LOT 7147 04:14:03,796 --> 04:14:05,197 OF ABSOLUTE MUSCLE LEFT. 7148 04:14:05,197 --> 04:14:07,199 AND THE ACTUAL PROGRESSION OF 7149 04:14:07,199 --> 04:14:09,302 THE FAT SIGNAL DECREASES. 7150 04:14:09,302 --> 04:14:13,372 SO WE HAVE THIS GAUSSIAN-LIKE 7151 04:14:13,372 --> 04:14:14,840 BEHAVIOR FOR DISEASE 7152 04:14:14,840 --> 04:14:15,808 PROGRESSION, WHICH IS LOW IN THE 7153 04:14:15,808 --> 04:14:18,344 EARLY YEARS, GOES THROUGH A 7154 04:14:18,344 --> 04:14:21,180 MAXIMUM AND THEN DECLINES. 7155 04:14:21,180 --> 04:14:22,181 SO THE FAT DOESN'T DISAPPEAR. 7156 04:14:22,181 --> 04:14:24,984 SO THE INTEGRATION OF THAT 7157 04:14:24,984 --> 04:14:26,118 GAUSSIAN-LIKE FUNCTION IS A 7158 04:14:26,118 --> 04:14:26,752 SIGMOID FUNCTION. 7159 04:14:26,752 --> 04:14:28,287 SO HERE AGAIN, ON THE LEFT 7160 04:14:28,287 --> 04:14:29,488 PANEL, WE'RE SHOWING THAT CHANGE 7161 04:14:29,488 --> 04:14:32,158 IN FAT FRACTION PER UNIT TIME, 7162 04:14:32,158 --> 04:14:34,360 AND IT HAS THIS OVERALL GAUSSIAN 7163 04:14:34,360 --> 04:14:34,960 SHAPE. 7164 04:14:34,960 --> 04:14:36,796 THE INTEGRATION OF THIS GAUSSIAN 7165 04:14:36,796 --> 04:14:38,297 SHAPE IS SHOWN HERE. 7166 04:14:38,297 --> 04:14:39,699 THIS IS A TOTAL ACCUMULATED 7167 04:14:39,699 --> 04:14:44,303 MUSCLE FAT, AND IT TAKES ON THIS 7168 04:14:44,303 --> 04:14:45,738 SIGMOID-LIKE FUNCTIONAL FORM. 7169 04:14:45,738 --> 04:14:51,310 AND AGAIN, INITIAL DISEASE 7170 04:14:51,310 --> 04:14:52,178 PROGRESSION, GOES THROUGH 7171 04:14:52,178 --> 04:14:53,446 MAXIMUM DECLINES AS MUSCLE IS 7172 04:14:53,446 --> 04:14:53,979 LOST. 7173 04:14:53,979 --> 04:14:57,149 WE CAN USE THESE MEASURES AS I 7174 04:14:57,149 --> 04:14:58,250 MENTIONED EARLIER, WE FOLLOWED 7175 04:14:58,250 --> 04:15:00,853 SOME OF THESE BOYS FOR UP TO 10 7176 04:15:00,853 --> 04:15:02,655 YEARS, SO MANY, MANY STUDIES. 7177 04:15:02,655 --> 04:15:04,290 A LOT OF INFORMATION IN THIS 7178 04:15:04,290 --> 04:15:04,490 SLIDE. 7179 04:15:04,490 --> 04:15:06,926 THIS IS JUST TO SHOW YOU THE 7180 04:15:06,926 --> 04:15:07,226 VARIABILITY. 7181 04:15:07,226 --> 04:15:08,627 ONE OF THE OTHER THINGS IS THE 7182 04:15:08,627 --> 04:15:11,063 DISEASE PROGRESSION OF DMD IS 7183 04:15:11,063 --> 04:15:12,131 HIGHLY VARIABLE. 7184 04:15:12,131 --> 04:15:12,998 SOME INDIVIDUALS PROGRESS VERY 7185 04:15:12,998 --> 04:15:15,101 QUICKLY, SOME, VERY, VERY 7186 04:15:15,101 --> 04:15:15,835 SLOWLY. 7187 04:15:15,835 --> 04:15:18,070 THIS MODELING CAN CAPTURE THAT 7188 04:15:18,070 --> 04:15:19,572 DIVERSITY IN DISEASE 7189 04:15:19,572 --> 04:15:21,907 PROGRESSION, AND IT'S SHOWN HERE 7190 04:15:21,907 --> 04:15:32,351 FOR THE VASTUS LATERALIS. 7191 04:15:34,553 --> 04:15:36,622 THERE'S A SOLID LINE THAT GOES 7192 04:15:36,622 --> 04:15:37,656 THROUGH THOSE DATA POINTS AND 7193 04:15:37,656 --> 04:15:39,558 THAT'S THE MATHEMATICAL MODEL. 7194 04:15:39,558 --> 04:15:40,493 THE OVERALL BEHAVIOR IS SHOWN 7195 04:15:40,493 --> 04:15:40,993 HERE. 7196 04:15:40,993 --> 04:15:43,195 AGAIN, WE SEE THESE SPAGHETTI 7197 04:15:43,195 --> 04:15:44,964 PLOTS SHOWING A LOT OF 7198 04:15:44,964 --> 04:15:45,564 VARIABILITY IN THE INDIVIDUAL 7199 04:15:45,564 --> 04:15:46,365 DISEASE PROGRESSION. 7200 04:15:46,365 --> 04:15:48,000 THE GROUP AVERAGE, POPULATION 7201 04:15:48,000 --> 04:15:49,368 AVERAGE IS SHOWN BY THAT SOLID 7202 04:15:49,368 --> 04:15:50,803 LINE AND, AGAIN, IT TAKES ON 7203 04:15:50,803 --> 04:15:52,271 THAT SIG MOI DAL FUNCTION. 7204 04:15:52,271 --> 04:15:58,277 WE CAN DO THIS FOR ANY MUSCLE IN 7205 04:15:58,277 --> 04:15:58,878 THE BODY. 7206 04:15:58,878 --> 04:16:01,147 THIS IS JUST SHOWING A NUMBER OF 7207 04:16:01,147 --> 04:16:01,847 DIFFERENT SKELETAL MUSCLES AND 7208 04:16:01,847 --> 04:16:04,283 HOW RAPIDLY THEY'RE PROGRESSING. 7209 04:16:04,283 --> 04:16:06,752 YOU CAN SEE THE MUSCLES CLOSER 7210 04:16:06,752 --> 04:16:08,521 TO THE TRUNK PROGRESS VERY 7211 04:16:08,521 --> 04:16:08,988 QUICKLY. 7212 04:16:08,988 --> 04:16:10,723 THEY START WITH VERY LOW FAT AND 7213 04:16:10,723 --> 04:16:11,891 THEY PROGRESS QUICKLY. 7214 04:16:11,891 --> 04:16:14,627 AGES HERE ON THE X AXIS. 7215 04:16:14,627 --> 04:16:22,435 SO THE VAST KSUS LATERALIS 7216 04:16:22,435 --> 04:16:23,602 PROGRESS VERY QUICKLY, OTHERS 7217 04:16:23,602 --> 04:16:24,570 MUCH MORE SLOWLY. 7218 04:16:24,570 --> 04:16:25,671 ONE THING I'D LIKE TO ILLUSTRATE 7219 04:16:25,671 --> 04:16:28,474 HERE IS THIS IS AN OPPORTUNITY 7220 04:16:28,474 --> 04:16:30,776 FOR FOLLOWING HOW MUSCLES AND 7221 04:16:30,776 --> 04:16:33,379 DISEASE IS PROGRESSING OVER A 7222 04:16:33,379 --> 04:16:35,815 LONG PERIOD OF TIME, ESSENTIALLY 7223 04:16:35,815 --> 04:16:37,149 OVER 20-PLUS YEARS HERE. 7224 04:16:37,149 --> 04:16:42,555 SO IT'S OPPORTUNITY TO FOLLOW TO 7225 04:16:42,555 --> 04:16:43,322 POTENTIALLY ENROLL INDIVIDUALS 7226 04:16:43,322 --> 04:16:44,957 NOT AMBULATORY INTO TRIAL AND 7227 04:16:44,957 --> 04:16:45,891 STILL BE ABLE TO FOLLOW THE 7228 04:16:45,891 --> 04:16:47,526 DISEASE PROGRESSION. 7229 04:16:47,526 --> 04:16:48,694 ONE OTHER POINT THAT THESE 7230 04:16:48,694 --> 04:16:50,796 MEASURES ARE SENSITIVE TO 7231 04:16:50,796 --> 04:16:52,364 THERAPEUTIC TREATMENT. 7232 04:16:52,364 --> 04:16:54,834 HERE THIS IS JUST SHOWING DATA, 7233 04:16:54,834 --> 04:16:55,968 AGAIN, ON FAT FRACTION. 7234 04:16:55,968 --> 04:16:59,472 NOW FOR THE SOLEUS MUSCLE UNDER 7235 04:16:59,472 --> 04:17:00,272 TWO CONDITIONS, WITHOUT STEROIDS 7236 04:17:00,272 --> 04:17:01,640 AND WITH STEROIDS. 7237 04:17:01,640 --> 04:17:03,709 SO WHAT YOU CAN SEE IS, IN THE 7238 04:17:03,709 --> 04:17:04,844 CASE WITHOUT STEROIDS, THE 7239 04:17:04,844 --> 04:17:06,078 DISEASE PROGRESSION IS FURTHER 7240 04:17:06,078 --> 04:17:08,647 TO THE LEFT, SO MORE 7241 04:17:08,647 --> 04:17:10,015 ACCUMULATION OF DISEASE AT 7242 04:17:10,015 --> 04:17:12,952 YOUNGER AGE, AND THEN IN THE 7243 04:17:12,952 --> 04:17:14,420 STEROID-TREATED, IT PUSHES 7244 04:17:14,420 --> 04:17:15,654 THINGS OUT BY SEVERAL YEARS. 7245 04:17:15,654 --> 04:17:18,390 SO IT'S IMPORTANT THAT THESE 7246 04:17:18,390 --> 04:17:20,192 MEASURES -- THESE FAT FRACTIONS 7247 04:17:20,192 --> 04:17:21,894 ARE RESPONSIVE AND SENSITIVE TO 7248 04:17:21,894 --> 04:17:24,430 INTERVENTION. 7249 04:17:24,430 --> 04:17:28,934 HERE I'M PLOTTING A POSITIVE 7250 04:17:28,934 --> 04:17:31,036 MEASURE OF ONE OF THE PARAMETERS 7251 04:17:31,036 --> 04:17:32,938 PULLED OUT OF THE MODELING WITH 7252 04:17:32,938 --> 04:17:35,774 THE AGE AT LOSS OF AMBULATION. 7253 04:17:35,774 --> 04:17:38,544 WE SEE VERY STRONG MODULATIONS. 7254 04:17:38,544 --> 04:17:39,812 THESE MEASURES ARE TRACKING 7255 04:17:39,812 --> 04:17:41,080 CLINICALLY IMPORTANT MILESTONES 7256 04:17:41,080 --> 04:17:43,115 IN FUNCTION. 7257 04:17:43,115 --> 04:17:45,551 MORE RECENTLY, WE'VE TEAMED WITH 7258 04:17:45,551 --> 04:17:49,054 SARAH KIM AND HER PEOPLE AT 7259 04:17:49,054 --> 04:17:51,657 UNIVERSITY OF FLORIDA, AND THE 7260 04:17:51,657 --> 04:17:53,626 MODELING HAS REALLY BECOME MUCH 7261 04:17:53,626 --> 04:17:54,894 MORE SOPHISTICATED NOW AND WE'VE 7262 04:17:54,894 --> 04:17:57,196 DEVELOPED THESE COVARIATE -- 7263 04:17:57,196 --> 04:17:59,398 THESE MULTIVARIATE MODELS TO 7264 04:17:59,398 --> 04:18:00,933 CAPTURE THE DISEASE ACTIVITY. 7265 04:18:00,933 --> 04:18:03,335 THERE'S A PUBLICATION THAT CAME 7266 04:18:03,335 --> 04:18:04,503 OUT EARLIER THIS YEAR THAT'S 7267 04:18:04,503 --> 04:18:06,005 REFERENCED HERE, BUT THINGS HAVE 7268 04:18:06,005 --> 04:18:06,972 REALLY ADVANCED VERY QUICKLY. 7269 04:18:06,972 --> 04:18:08,607 I JUST WANT TO POINT OUT THAT 7270 04:18:08,607 --> 04:18:10,910 THE APPROACH THAT WE TAKE IS 7271 04:18:10,910 --> 04:18:14,346 COMPREHENSIVE AND RIGOROUS. 7272 04:18:14,346 --> 04:18:16,248 SO WE START BY THESE EXTENSIVE 7273 04:18:16,248 --> 04:18:17,550 DATASETS, AND AGAIN, THIS WAS 7274 04:18:17,550 --> 04:18:19,919 FUNDED THROUGH THE NIH, THE 7275 04:18:19,919 --> 04:18:23,822 IMAGING TRIAL, A LOT OF HIGH 7276 04:18:23,822 --> 04:18:25,024 QUALITY DATA COLLECTED OVER TIME 7277 04:18:25,024 --> 04:18:26,792 IN ITS NATURAL HISTORY, AND WE 7278 04:18:26,792 --> 04:18:29,395 FORMAT THE DATA, SPLIT IF WE'RE 7279 04:18:29,395 --> 04:18:30,663 GOING TO DO VALIDATION ANALYSIS, 7280 04:18:30,663 --> 04:18:32,898 WHICH WE ALWAYS DO, AND THEN WE 7281 04:18:32,898 --> 04:18:33,566 CAN GO THROUGH AND ESTABLISH 7282 04:18:33,566 --> 04:18:37,269 BASE MODELS, WHICH WE START WITH 7283 04:18:37,269 --> 04:18:38,971 UNIVARIATE MODELS, AND THEN MOVE 7284 04:18:38,971 --> 04:18:40,439 TO MULTIVARIATE. 7285 04:18:40,439 --> 04:18:42,241 WE BRING IN COVARIATES. 7286 04:18:42,241 --> 04:18:45,311 WE GO THROUGH MODEL VALIDATION 7287 04:18:45,311 --> 04:18:50,849 SO WE SPLIT THE TATA IN THE DATE 7288 04:18:50,849 --> 04:18:52,117 SURE THE OVERALL MODEL IS 7289 04:18:52,117 --> 04:18:52,918 GENERALIZABLE. 7290 04:18:52,918 --> 04:18:54,053 THE LAST STEP WHICH WE'RE 7291 04:18:54,053 --> 04:18:54,520 WORKING ON NOW IS THE 7292 04:18:54,520 --> 04:18:55,487 DEVELOPMENT AND INCORPORATION OF 7293 04:18:55,487 --> 04:18:59,158 THESE MODELS WHICH FORM THE 7294 04:18:59,158 --> 04:19:00,125 KERNEL FOR CLINICAL TRIAL 7295 04:19:00,125 --> 04:19:01,160 SIMULATION TOO. 7296 04:19:01,160 --> 04:19:03,862 SIMULATION TOOL. 7297 04:19:03,862 --> 04:19:05,297 SO THE KEY COMPONENTS IS HAVING 7298 04:19:05,297 --> 04:19:08,968 SOME IDEA, OF SOME OF THE 7299 04:19:08,968 --> 04:19:10,235 DISEASE TRAJECTORY, THE 7300 04:19:10,235 --> 04:19:11,303 PROGRESSION, AND WE HAVE THAT 7301 04:19:11,303 --> 04:19:13,639 FROM OUR NATURAL HISTORY DATA. 7302 04:19:13,639 --> 04:19:16,942 THEN OTHER INPUTS TOLL THE 7303 04:19:16,942 --> 04:19:18,243 CLINICAL TRIAL, THE 7304 04:19:18,243 --> 04:19:19,878 PHARMACEUTICAL WILL HAVE SOME 7305 04:19:19,878 --> 04:19:21,413 TRIAL DESIGN CONSIDERATION AND 7306 04:19:21,413 --> 04:19:22,881 THEY CAN PUT IN THINGS LIKE 7307 04:19:22,881 --> 04:19:24,016 TRIAL DURATION, THE NUMBER OF 7308 04:19:24,016 --> 04:19:27,920 INDIVIDUALS EXPECTED TO DROP 7309 04:19:27,920 --> 04:19:28,787 OUT, INTRINSIC CHARACTERISTICS 7310 04:19:28,787 --> 04:19:30,589 OF THE TRIAL POPULATION, AND 7311 04:19:30,589 --> 04:19:33,726 THEN THE ASSUMED BEHAVIOR, 7312 04:19:33,726 --> 04:19:34,927 ASSUMED THERAPEUTIC EFFECT OF 7313 04:19:34,927 --> 04:19:35,628 THE DRUG. 7314 04:19:35,628 --> 04:19:37,162 SO ALL OF THESE THINGS ARE 7315 04:19:37,162 --> 04:19:39,164 IMPORTANT AND THEY'RE COMPONENTS 7316 04:19:39,164 --> 04:19:41,266 OF THE CLINICAL TRIAL SIMULATION 7317 04:19:41,266 --> 04:19:43,102 TOOL, BUT UNDERLYING IS THE 7318 04:19:43,102 --> 04:19:46,271 ENGINE THAT'S DRIVING THIS 7319 04:19:46,271 --> 04:19:46,905 DISEASE PROGRESSION MODEL WHICH 7320 04:19:46,905 --> 04:19:48,774 WE GET THROUGH THESE NATURAL 7321 04:19:48,774 --> 04:19:50,175 HISTORY STUDIES. 7322 04:19:50,175 --> 04:19:51,577 SO THE CLINICAL TRIAL SIMULATION 7323 04:19:51,577 --> 04:19:52,811 TOOL, IT'S A PROCESS. 7324 04:19:52,811 --> 04:19:55,547 YOU HAVE REAL DATA, YOU SAW ALL 7325 04:19:55,547 --> 04:19:57,816 OF THE TRAJECTORIES I SHOWED FOR 7326 04:19:57,816 --> 04:19:58,450 A SINGLE MUSCLE. 7327 04:19:58,450 --> 04:20:01,453 WE HAVE THAT FOR MULTIPLE 7328 04:20:01,453 --> 04:20:02,321 MUSCLES, MULTIPLE INDIVIDUALS. 7329 04:20:02,321 --> 04:20:03,322 SO THAT'S THE REAL DATA. 7330 04:20:03,322 --> 04:20:04,890 WE CAN GET ESTIMATES WITH OUR 7331 04:20:04,890 --> 04:20:06,592 MAMATHEMATICAL MODEL. 7332 04:20:06,592 --> 04:20:09,228 FROM THOSE ESTIMATES, WE CAN 7333 04:20:09,228 --> 04:20:14,033 CREATE VIRTUAL INDIVIDUALS 7334 04:20:14,033 --> 04:20:16,568 THROUGH DIFFERENT MONTE CARLO 7335 04:20:16,568 --> 04:20:25,444 AND SAND S SOCASTIC PROPERTIES. 7336 04:20:25,444 --> 04:20:27,212 SO ALL OF THIS PROVIDES A VERY 7337 04:20:27,212 --> 04:20:28,414 POWERFUL BACKGROUND FOR 7338 04:20:28,414 --> 04:20:30,582 IMPROVING THE ABILITY TO RUN 7339 04:20:30,582 --> 04:20:35,087 CLINICAL TRIALS. 7340 04:20:35,087 --> 04:20:36,355 SO ULTIMATELY THE INTENT IS TO 7341 04:20:36,355 --> 04:20:38,757 BENEFIT THE DMD COMMUNITY, SO AT 7342 04:20:38,757 --> 04:20:41,694 SOME POINT THESE WILL BE 7343 04:20:41,694 --> 04:20:42,261 AVAILABLE TOOLS TO THE 7344 04:20:42,261 --> 04:20:43,429 COMMUNITY. 7345 04:20:43,429 --> 04:20:45,798 AND AN EXAMPLE OF THAT TOOL 7346 04:20:45,798 --> 04:20:47,733 DEVELOPED BY SARAH KIM'S TEAM IS 7347 04:20:47,733 --> 04:20:51,036 SHOWN HERE. 7348 04:20:51,036 --> 04:20:52,404 AGAIN, THIS IS THE GRAPHICAL 7349 04:20:52,404 --> 04:20:54,239 USER INTERFACE, BUT IT SHOWS THE 7350 04:20:54,239 --> 04:20:59,545 BEHAVIOR OF SOME BIOMARKER UNDR 7351 04:20:59,545 --> 04:21:00,646 CONDITIONS INPUT FROM THE USER, 7352 04:21:00,646 --> 04:21:03,916 AND DRIVING, AGAIN, ON THAT 7353 04:21:03,916 --> 04:21:05,217 KERNEL OF THE NATURAL HISTORY 7354 04:21:05,217 --> 04:21:08,487 DATA THAT IS SO IMPORTANT FOR 7355 04:21:08,487 --> 04:21:09,621 ESTABLISHING THESE MODELS. 7356 04:21:09,621 --> 04:21:11,123 BUT THESE ARE QUANTITATIVE 7357 04:21:11,123 --> 04:21:12,558 DISEASE PROGRESSION MODELS. 7358 04:21:12,558 --> 04:21:14,126 WE NEED TO KNOW SOMETHING ABOUT 7359 04:21:14,126 --> 04:21:16,662 BASELINE POPULATION FEATURES SO 7360 04:21:16,662 --> 04:21:22,234 THERE'S SOME SLEK SHOUL SELECTIE 7361 04:21:22,234 --> 04:21:24,403 INTERESTED IN AN AGE RANGE, 7362 04:21:24,403 --> 04:21:28,774 STEROID TREATED/NON-STEROID 7363 04:21:28,774 --> 04:21:30,542 TREATED OR OTHERS, THESE CAN BE 7364 04:21:30,542 --> 04:21:31,643 INCORPORATED INTO THESE 7365 04:21:31,643 --> 04:21:31,944 SIMULATIONS. 7366 04:21:31,944 --> 04:21:33,178 OF COURSE THERE HAS TO BE 7367 04:21:33,178 --> 04:21:34,379 SOMETHING SAID ABOUT THE ASSUMED 7368 04:21:34,379 --> 04:21:35,914 DRUG EFFECT AND YOU CAN OPTIMIZE 7369 04:21:35,914 --> 04:21:39,618 DIFFERENT TRIAL DESIGN 7370 04:21:39,618 --> 04:21:42,254 PARAMETERS WITH THIS TYPE OF 7371 04:21:42,254 --> 04:21:45,491 TOOL. 7372 04:21:45,491 --> 04:21:48,994 SO TO SUMMARIZE, THE MRS FAT 7373 04:21:48,994 --> 04:21:51,130 FRACTION IS A SENSITIVE AND 7374 04:21:51,130 --> 04:21:52,998 NONINVASIVE MEASURE OF DUCHENNE 7375 04:21:52,998 --> 04:21:54,199 MUSCULAR DYSTROPHY PROGRESSION. 7376 04:21:54,199 --> 04:21:55,934 THE NON-LINEAR MIX EFFECT 7377 04:21:55,934 --> 04:21:58,003 MODELING PROVIDES A ROBUST AND 7378 04:21:58,003 --> 04:21:59,004 RELIABLE APPROACH TO 7379 04:21:59,004 --> 04:22:00,506 CHARACTERIZE THE NATURAL HISTORY 7380 04:22:00,506 --> 04:22:05,844 OF MUSCLE INVOLVEMENT IN DMD. 7381 04:22:05,844 --> 04:22:07,713 MRS FAT FRACTION DETECTS 7382 04:22:07,713 --> 04:22:09,848 THERAPEUTIC EFFECTS OF 7383 04:22:09,848 --> 04:22:10,382 CORTICOSTEROIDS ON DISEASE 7384 04:22:10,382 --> 04:22:12,151 PROGRESSION AND PROVIDES 7385 04:22:12,151 --> 04:22:13,152 PROGNOSTIC INFORMATION ON 7386 04:22:13,152 --> 04:22:14,419 FUNCTIONAL OUTCOMES. 7387 04:22:14,419 --> 04:22:17,156 THE MRS FAT FRACTION BIOMARKER 7388 04:22:17,156 --> 04:22:18,557 AND MATHEMATICAL MODELING 7389 04:22:18,557 --> 04:22:23,595 PROVIDES THE KERNEL FOR A DMD 7390 04:22:23,595 --> 04:22:25,063 CLINICAL SIMULATION TOOL. 7391 04:22:25,063 --> 04:22:25,697 SO WE'RE CURRENTLY IN THE 7392 04:22:25,697 --> 04:22:26,765 SUBMISSION PROCESS WITH BOTH THE 7393 04:22:26,765 --> 04:22:28,200 FDA AND EMA AND THINGS ARE 7394 04:22:28,200 --> 04:22:29,434 MOVING FORWARD. 7395 04:22:29,434 --> 04:22:30,969 WE EXPECT GOOD THINGS IN 2024. 7396 04:22:30,969 --> 04:22:32,805 BUT THEY ARE IN PROGRESS AND 7397 04:22:32,805 --> 04:22:34,173 UNDER REVIEW. 7398 04:22:34,173 --> 04:22:36,175 AND AGAIN, THE ULTIMATE GOAL IS 7399 04:22:36,175 --> 04:22:38,911 TO PROVIDE A CTS TOOL FOR THE 7400 04:22:38,911 --> 04:22:40,479 DMD COMMUNITY, SO UTILIZING 7401 04:22:40,479 --> 04:22:44,082 THESE SENSITIVE BIOMARKERS TO 7402 04:22:44,082 --> 04:22:45,150 REALLY ACCELERATE DRUG DISCOVERY 7403 04:22:45,150 --> 04:22:49,688 AND TO EXPAND THESE TRIALS TO A 7404 04:22:49,688 --> 04:22:51,557 LARGER NUMBER OF INDIVIDUALS 7405 04:22:51,557 --> 04:22:52,457 WITH MUSCULAR DYSTROPHY, I THINK 7406 04:22:52,457 --> 04:22:54,026 ULTIMATELY IS GOING TO BE VERY 7407 04:22:54,026 --> 04:22:55,360 IMPORTANT. 7408 04:22:55,360 --> 04:22:59,364 SO AGAIN TO SUMMARIZE, DISEASE 7409 04:22:59,364 --> 04:23:00,299 TRAJECTORY MODELING AND A CTS 7410 04:23:00,299 --> 04:23:00,833 TOOL. 7411 04:23:00,833 --> 04:23:03,001 NATURAL HISTORY STUDIES ARE 7412 04:23:03,001 --> 04:23:03,702 FUNDAMENTALLY IMPORTANT IN 7413 04:23:03,702 --> 04:23:04,736 CREATING THESE TOOLS. 7414 04:23:04,736 --> 04:23:07,439 AND THEN THERE'S A LOT OF 7415 04:23:07,439 --> 04:23:09,341 MATHEMATICS AND PROCESS THAT 7416 04:23:09,341 --> 04:23:10,843 GOES ON BEHIND THE SCENES. 7417 04:23:10,843 --> 04:23:14,046 BUT ULTIMATELY, THESE DATASET 7418 04:23:14,046 --> 04:23:15,547 ARE GOING TO BE PUT TO USE AND 7419 04:23:15,547 --> 04:23:20,185 OPEN TO THE PUBLIC. 7420 04:23:20,185 --> 04:23:21,687 AGAIN WITH THE INTENT OF 7421 04:23:21,687 --> 04:23:22,788 ACCELERATING DRUG DISCOVERY AND 7422 04:23:22,788 --> 04:23:23,889 MOVING THINGS MORE QUICKLY 7423 04:23:23,889 --> 04:23:26,525 THROUGH THE PIPELINE, AS SILICON 7424 04:23:26,525 --> 04:23:29,161 VALLEY LIKES TO SAY, FAIL FASTER 7425 04:23:29,161 --> 04:23:29,962 AND IDENTIFY THOSE THERAPIES 7426 04:23:29,962 --> 04:23:31,630 THAT ARE REALLY EFFECTIVE AND 7427 04:23:31,630 --> 04:23:33,565 MOVE ON THERE MORE QUICKLY. 7428 04:23:33,565 --> 04:23:36,468 WITH THAT, I'D LIKE TO JUST 7429 04:23:36,468 --> 04:23:40,105 ACKNOWLEDGE THE IMAGING DMD 7430 04:23:40,105 --> 04:23:40,305 TEAM. 7431 04:23:40,305 --> 04:23:41,707 THIS IS WHAT THEY LOOKED LIKE IN 7432 04:23:41,707 --> 04:23:43,308 2017. 7433 04:23:43,308 --> 04:23:45,177 IT'S BEEN A VERY PRODUCTIVE 7434 04:23:45,177 --> 04:23:46,111 GROUP OF INDIVIDUALS, AND IT'S 7435 04:23:46,111 --> 04:23:47,512 BEEN A LOT OF FUN TO WORK WITH 7436 04:23:47,512 --> 04:23:48,747 THEM, BUT OF COURSE NONE OF THIS 7437 04:23:48,747 --> 04:23:50,716 WOULD BE POSSIBLE WITHOUT THE 7438 04:23:50,716 --> 04:23:51,350 PARTICIPANTS AND THEIR FAMILIES, 7439 04:23:51,350 --> 04:23:54,253 SO WE REALLY APPRECIATE THEIR 7440 04:23:54,253 --> 04:23:55,420 CONTRIBUTIONS TO THESE STUDY, 7441 04:23:55,420 --> 04:23:57,155 AND THEN ALL OF THE FUNDING THAT 7442 04:23:57,155 --> 04:23:57,990 GOES ON. 7443 04:23:57,990 --> 04:23:59,391 THE DEVELOPMENT OF THE CLINICAL 7444 04:23:59,391 --> 04:24:01,627 TRIAL SIMULATION TEAM, SARAH KIM 7445 04:24:01,627 --> 04:24:04,429 AT THE UNIVERSITY OF FLORIDA, 7446 04:24:04,429 --> 04:24:06,965 LAKE NONA, AND THEN THE C-PATH 7447 04:24:06,965 --> 04:24:08,734 GROUP HAS BEEN JUST 7448 04:24:08,734 --> 04:24:10,102 INDISPENSABLE IN MOVING THIS 7449 04:24:10,102 --> 04:24:11,970 FORWARD AND WE'RE REALLY 7450 04:24:11,970 --> 04:24:12,237 THANKFUL. 7451 04:24:12,237 --> 04:24:15,340 AND WITH THAT, I WILL END THERE. 7452 04:24:15,340 --> 04:24:22,080 AND HAPPY TO TAKE ANY QUESTIONS. 7453 04:24:22,080 --> 04:24:23,181 >> BILL, THANK YOU VERY MUCH. 7454 04:24:23,181 --> 04:24:25,050 THERE'S A NICE COMMENT IN THE 7455 04:24:25,050 --> 04:24:27,619 CHAT BOX FROM JEN HANDT. 7456 04:24:27,619 --> 04:24:34,192 I ALSO WANTED TO SAY THAT THIS 7457 04:24:34,192 --> 04:24:34,793 INFORMATION INDIRECTLY ANSWERS 7458 04:24:34,793 --> 04:24:36,495 SOMETHING THAT JUNE ASKED 7459 04:24:36,495 --> 04:24:38,697 EARLIER ABOUT WHY PEOPLE WHO ARE 7460 04:24:38,697 --> 04:24:40,966 NOT AMBULATORY ARE EXCLUDED, AND 7461 04:24:40,966 --> 04:24:41,934 PART OF IT MIGHT HAVE TO DO WITH 7462 04:24:41,934 --> 04:24:44,670 THE FACT THAT THERE AREN'T 7463 04:24:44,670 --> 04:24:46,505 BIOMARKERS TO ASSESS THE EFFECTS 7464 04:24:46,505 --> 04:24:48,640 OF TREATMENT, BUT YOUR DATA 7465 04:24:48,640 --> 04:24:50,909 WOULD SUGGEST THAT EVEN FOR 7466 04:24:50,909 --> 04:24:52,611 PEOPLE WHO ARE NON-AMBULATORY 7467 04:24:52,611 --> 04:24:54,446 THAT WE COULD FOLLOW THEM AND WE 7468 04:24:54,446 --> 04:24:55,614 COULD MEASURE THE EFFECTS OF 7469 04:24:55,614 --> 04:24:56,248 TREATMENT. 7470 04:24:56,248 --> 04:24:57,783 SO THAT PROVIDES A LOT OF HOPE, 7471 04:24:57,783 --> 04:24:59,985 I THINK, FOR THE FUTURE GOING 7472 04:24:59,985 --> 04:25:00,385 FORWARD. 7473 04:25:00,385 --> 04:25:01,486 >> YEAH, I COMPLETELY AGREE. 7474 04:25:01,486 --> 04:25:03,255 A LOT OF THE CLINICAL TRIALS 7475 04:25:03,255 --> 04:25:05,857 CURRENTLY ARE BASED ON 7476 04:25:05,857 --> 04:25:08,727 AMBULATORY CHARACTERISTICS, AND 7477 04:25:08,727 --> 04:25:10,796 OF COURSE INDIVIDUALS WITH THIS 7478 04:25:10,796 --> 04:25:12,364 DISEASE LOSE THE ABILITY TO 7479 04:25:12,364 --> 04:25:13,832 AMBULATE IN THEIR EARLY TEENS, 7480 04:25:13,832 --> 04:25:16,535 AND THAT THEN -- YOU KNOW, 7481 04:25:16,535 --> 04:25:17,803 THEY'RE NOT GOOD CANDIDATES FOR 7482 04:25:17,803 --> 04:25:19,071 THESE TRIALS. 7483 04:25:19,071 --> 04:25:21,540 SO HAVING MEASURES THAT SPAN A 7484 04:25:21,540 --> 04:25:24,376 MUCH LARGER RANGE IN THE DISEASE 7485 04:25:24,376 --> 04:25:31,717 PROCESS OPENS UP TRIALS FOR 7486 04:25:31,717 --> 04:25:32,617 THESE NON-AMBULATORY 7487 04:25:32,617 --> 04:25:33,652 INDIVIDUALS, WHICH I THINK IS 7488 04:25:33,652 --> 04:25:34,686 REALLY IMPORTANT. 7489 04:25:34,686 --> 04:25:42,294 RARE DISEASE IS ALWAYS HARD, 7490 04:25:42,294 --> 04:25:42,928 THERE LIMITED SOURCE. 7491 04:25:42,928 --> 04:25:45,030 SO YOU WANT TO BE ABLE TO BE AS 7492 04:25:45,030 --> 04:25:46,298 INCLUSIVE AS POSSIBLE AND THAT'S 7493 04:25:46,298 --> 04:25:47,466 POSSIBLE WITH THESE MEASURES. 7494 04:25:47,466 --> 04:25:47,866 >> GREAT. 7495 04:25:47,866 --> 04:25:49,234 THANK YOU SO MUCH FOR YOUR WORK. 7496 04:25:49,234 --> 04:25:50,502 I'M JUST LOOKING BECAUSE I'VE 7497 04:25:50,502 --> 04:25:56,641 GOT TWO PAGES HERE OF HANDS, I 7498 04:25:56,641 --> 04:25:58,777 SEE DR. KOROSHETZ HAS RAISED HIS 7499 04:25:58,777 --> 04:25:58,977 HAND. 7500 04:25:58,977 --> 04:26:02,948 >> I WAS JUST WONDERING, THE 7501 04:26:02,948 --> 04:26:05,717 SPAGHETTI PLOT PASSED PRETTY 7502 04:26:05,717 --> 04:26:08,320 QUICKLY BUT IT LOOKED TO ME LIKE 7503 04:26:08,320 --> 04:26:09,254 THE VARIABILITY IS IN THE AGE OF 7504 04:26:09,254 --> 04:26:11,890 ONSET BUT THE SLOPES LOOK PRETTY 7505 04:26:11,890 --> 04:26:12,357 CLOSE TO BE IDENTICAL. 7506 04:26:12,357 --> 04:26:12,691 IS THAT TRUE? 7507 04:26:12,691 --> 04:26:13,959 >> YEAH. 7508 04:26:13,959 --> 04:26:16,361 IT'S -- THAT'S -- SO THE 7509 04:26:16,361 --> 04:26:19,531 SLOPE -- IN THE MODELING, THERE 7510 04:26:19,531 --> 04:26:20,866 ARE THREE PRINCIPAL PARAMETERS 7511 04:26:20,866 --> 04:26:21,566 WE PULL OUT. 7512 04:26:21,566 --> 04:26:24,669 THAT KIND OF AGE AT HALF MUSCLE 7513 04:26:24,669 --> 04:26:25,837 INVOLVEMENT, AND THE SLOPE OF 7514 04:26:25,837 --> 04:26:26,138 THAT. 7515 04:26:26,138 --> 04:26:28,940 SO THERE IS A FAIR AMOUNT OF 7516 04:26:28,940 --> 04:26:29,474 VARIABILITY IN THE SLOPE. 7517 04:26:29,474 --> 04:26:33,278 IT MAY NOT HAVE BEEN EASY TO SEE 7518 04:26:33,278 --> 04:26:35,647 WITH THAT SPAGHETTI PLOT. 7519 04:26:35,647 --> 04:26:38,683 BUT THERE IS A FAIR AMOUNT OF 7520 04:26:38,683 --> 04:26:39,618 VARIABILITY IN THE DISEASE 7521 04:26:39,618 --> 04:26:40,619 PROGRESSION. 7522 04:26:40,619 --> 04:26:41,653 IT'S KIND OF HOW TALL THAT 7523 04:26:41,653 --> 04:26:43,221 GAUSSIAN FUNCTION IS, OR HOW 7524 04:26:43,221 --> 04:26:45,157 NARROW IT IS, IF THE AREA IS 7525 04:26:45,157 --> 04:26:46,324 CONSERVED. 7526 04:26:46,324 --> 04:26:51,863 BUT WE DO SEE A LOT OF 7527 04:26:51,863 --> 04:26:54,733 VARIABILITY IN BOTH THAT TIME AT 7528 04:26:54,733 --> 04:26:57,169 50% MUSCLE INVOLVEMENT, BUT ALSO 7529 04:26:57,169 --> 04:27:03,008 THE SLOPE AT THAT TIME POINT. 7530 04:27:03,008 --> 04:27:05,177 AND TREATMENT OF DISEASE COULD 7531 04:27:05,177 --> 04:27:07,112 MODIFY BOTH OF THOSE, AND WE 7532 04:27:07,112 --> 04:27:07,646 EXPECT TO MODIFY. 7533 04:27:07,646 --> 04:27:09,147 THAT'S BASICALLY WHAT 7534 04:27:09,147 --> 04:27:10,816 CORTICOSTEROID TREATMENT WAS 7535 04:27:10,816 --> 04:27:13,285 FOUND TO DO, TO MODIFY BOTH THE 7536 04:27:13,285 --> 04:27:17,622 SLOPE AND THEN THE AGE AT 50% 7537 04:27:17,622 --> 04:27:22,928 FAT FRACTION. 7538 04:27:22,928 --> 04:27:23,628 >> GREAT, THANK YOU. 7539 04:27:23,628 --> 04:27:25,163 LET'S GO TO GLEN. 7540 04:27:25,163 --> 04:27:25,530 >> THANKS, BILL. 7541 04:27:25,530 --> 04:27:25,931 GREAT TALK. 7542 04:27:25,931 --> 04:27:27,632 I SAW A RECENT PRESENTATION FROM 7543 04:27:27,632 --> 04:27:29,668 KEVIN FLANAGAN, AND HE'S 7544 04:27:29,668 --> 04:27:31,503 IDENTIFIED SOME ADDITIONAL 7545 04:27:31,503 --> 04:27:34,706 GENETIC MODIFIERS OF THE 7546 04:27:34,706 --> 04:27:36,174 DUCHENNE PHENOTYPE IN ADDITION 7547 04:27:36,174 --> 04:27:39,511 TO LTBP4 AND THROMBUS -- AND I 7548 04:27:39,511 --> 04:27:41,713 KNOW SOME OF THOSE ARE REALLY 7549 04:27:41,713 --> 04:27:43,648 CONNECTED WITH AGE OF LOSS OF 7550 04:27:43,648 --> 04:27:43,982 AMBULATION. 7551 04:27:43,982 --> 04:27:46,351 SO I'M CURIOUS, WOULD IT BE 7552 04:27:46,351 --> 04:27:49,688 ABLE -- WOULD YOU BE ABLE TO 7553 04:27:49,688 --> 04:27:50,989 INCORPORATE MODIFIER GENOTYPES 7554 04:27:50,989 --> 04:27:56,261 INTO YOUR MODELING AND HOW 7555 04:27:56,261 --> 04:27:57,462 MANY -- I DON'T KNOW HOW 7556 04:27:57,462 --> 04:27:58,763 FREQUENT THOSE DIFFERENT 7557 04:27:58,763 --> 04:27:59,598 GENOTYPES ARE AND WHETHER YOU'RE 7558 04:27:59,598 --> 04:28:01,233 GOING TO HAVE SUFFICIENT POWER 7559 04:28:01,233 --> 04:28:05,804 TO PUT IT INTO YOUR SYSTEM. 7560 04:28:05,804 --> 04:28:07,672 >> IT'S A GREAT QUESTION AND ONE 7561 04:28:07,672 --> 04:28:08,673 WE WERE VERY INTERESTED IN. 7562 04:28:08,673 --> 04:28:10,375 WE DID TAKE A CLOSE LOOK AT 7563 04:28:10,375 --> 04:28:10,575 THAT. 7564 04:28:10,575 --> 04:28:11,576 DESPITE HAVING PRETTY GOOD 7565 04:28:11,576 --> 04:28:13,178 NUMBERS IN THIS RARE DISEASE 7566 04:28:13,178 --> 04:28:17,449 NATURAL HISTORY STUDY, WE 7567 04:28:17,449 --> 04:28:18,717 WEREN'T SUFFICIENTLY POWERED TO 7568 04:28:18,717 --> 04:28:20,218 PULL OUT A LOT OF GENETICS BUT 7569 04:28:20,218 --> 04:28:22,721 IT'S SOMETHING WE'RE KEEPING AN 7570 04:28:22,721 --> 04:28:23,588 EYE ON. 7571 04:28:23,588 --> 04:28:24,589 WITH EACH ADDITIONAL DATASET, WE 7572 04:28:24,589 --> 04:28:26,224 GET A LITTLE BIT CLOSER TO BEING 7573 04:28:26,224 --> 04:28:27,025 ABLE TO DO THAT. 7574 04:28:27,025 --> 04:28:29,494 WE SEE SOME CLUSTERS IN SOME 7575 04:28:29,494 --> 04:28:31,897 DIFFERENT GENETIC MARKERS THAT 7576 04:28:31,897 --> 04:28:34,132 LOOK PROMISING, BUT IT WILL -- 7577 04:28:34,132 --> 04:28:35,433 WE DO EXPECT TO BE ABLE TO 7578 04:28:35,433 --> 04:28:40,939 INCLUDE THOSE AT SOME POINT. 7579 04:28:40,939 --> 04:28:41,907 >> GREAT. 7580 04:28:41,907 --> 04:28:43,341 LET'S GO TO DR. CRISWELL. 7581 04:28:43,341 --> 04:28:43,675 >> THANK YOU. 7582 04:28:43,675 --> 04:28:45,377 I JUST WANTED TO ECHO THE 7583 04:28:45,377 --> 04:28:46,711 COMMENTS BY DR. BIANCHI AND 7584 04:28:46,711 --> 04:28:47,078 OTHERS. 7585 04:28:47,078 --> 04:28:48,547 I REALLY APPLAUD THIS WORK. 7586 04:28:48,547 --> 04:28:52,117 IT'S SO EXCITING, SO IMPORTANT, 7587 04:28:52,117 --> 04:28:53,218 AND THE APPROACH YOU'RE TAKING 7588 04:28:53,218 --> 04:28:54,719 IS SO SOPHISTICATED. 7589 04:28:54,719 --> 04:28:56,121 REALLY, REALLY THRILLED TO HEAR 7590 04:28:56,121 --> 04:28:56,621 ABOUT THIS PROGRESS. 7591 04:28:56,621 --> 04:28:57,656 THANK YOU SO MUCH FOR SHARING 7592 04:28:57,656 --> 04:28:58,557 THAT. 7593 04:28:58,557 --> 04:28:59,224 >> THANK YOU. 7594 04:28:59,224 --> 04:28:59,724 IT'S BEEN FUN. 7595 04:28:59,724 --> 04:29:03,295 THANK YOU. 7596 04:29:03,295 --> 04:29:05,630 >> OKAY, LAST, WE HAVE A 7597 04:29:05,630 --> 04:29:06,131 QUESTION FROM CAROL 7598 04:29:06,131 --> 04:29:06,464 TAYLOR-BURDS. 7599 04:29:06,464 --> 04:29:09,167 DO YOU WANT TO COME OFF MUTE AND 7600 04:29:09,167 --> 04:29:11,570 ASK IT YOURSELF? 7601 04:29:11,570 --> 04:29:13,205 >> SURE, I CAN DO THAT. 7602 04:29:13,205 --> 04:29:14,306 VERY NICE PRESENTATION AND GREAT 7603 04:29:14,306 --> 04:29:16,107 TO SEE THE MODELING BEING DONE. 7604 04:29:16,107 --> 04:29:17,609 JUST CURIOUS, WHAT'S THE 7605 04:29:17,609 --> 04:29:19,778 FREQUENCY OF THE IMAGING 7606 04:29:19,778 --> 04:29:20,078 ASSESSMENTS? 7607 04:29:20,078 --> 04:29:22,847 >> SO FREQUENCY IS YEARLY. 7608 04:29:22,847 --> 04:29:24,182 THERE ARE SUBSETS THAT WE DID A 7609 04:29:24,182 --> 04:29:27,285 LITTLE BIT MORE FREQUENTLY, BUT 7610 04:29:27,285 --> 04:29:30,555 OVERALL, EVERYONE WAS IMAGED 7611 04:29:30,555 --> 04:29:33,959 ABOUT EVERY 12 MONTHS. 7612 04:29:33,959 --> 04:29:35,427 >> THANK YOU. 7613 04:29:35,427 --> 04:29:36,895 >> WONDERFUL. 7614 04:29:36,895 --> 04:29:38,797 AND THERE'S BEEN SOMEWHAT OF A 7615 04:29:38,797 --> 04:29:42,467 SEGUE TO OUR NEXT SPEAKER, WHO 7616 04:29:42,467 --> 04:29:45,637 IS DR. RAMONA BELFIORE-OSHAN, 7617 04:29:45,637 --> 04:29:48,640 WHO WAS LISTED AS A COLLABORATOR 7618 04:29:48,640 --> 04:29:51,443 OF DR. ROONEY'S, AND SHE IS AT 7619 04:29:51,443 --> 04:29:52,877 THE CRITICAL PATH INSTITUTE. 7620 04:29:52,877 --> 04:29:55,780 SHE'S GOING TO TELL US ABOUT 7621 04:29:55,780 --> 04:29:57,549 COLLABORATIVE STRATEGIES TO 7622 04:29:57,549 --> 04:29:58,717 ACCELERATE MEDICAL PRODUCT 7623 04:29:58,717 --> 04:30:00,885 DEVELOPMENT AND THE REGULATORY 7624 04:30:00,885 --> 04:30:02,320 REVIEW PROCESS. 7625 04:30:02,320 --> 04:30:04,256 SO DR. BELFIORE-OSHAN, OVER TO 7626 04:30:04,256 --> 04:30:05,557 YOU. 7627 04:30:05,557 --> 04:30:06,191 >> THANK YOU. 7628 04:30:06,191 --> 04:30:07,626 THANK YOU SO MUCH FOR THE INVITE 7629 04:30:07,626 --> 04:30:11,096 AND THANK YOU TO THE COMMITTEE 7630 04:30:11,096 --> 04:30:12,931 FOR YOUR ATTENTION TODAY. 7631 04:30:12,931 --> 04:30:15,000 SO AS ANTICIPATED, I WILL GO 7632 04:30:15,000 --> 04:30:17,402 OVER SOME OF THE OVERVIEW 7633 04:30:17,402 --> 04:30:19,104 RELATED TO THE DUCHENNE 7634 04:30:19,104 --> 04:30:20,639 REGULATORY SCIENCE CONSORTIUM AT 7635 04:30:20,639 --> 04:30:24,976 CRITICAL PATH INSTITUTE, AND HOW 7636 04:30:24,976 --> 04:30:25,977 WE BUILD CASE STUDY OF THEIR 7637 04:30:25,977 --> 04:30:27,112 TREATMENT SOLUTION TO REALLY 7638 04:30:27,112 --> 04:30:28,513 ENHANCE DRUG DEVELOPMENT FOR 7639 04:30:28,513 --> 04:30:35,987 DUCHENNE AND POTENTIALLY OTHER 7640 04:30:35,987 --> 04:30:36,621 DYSTROPHINNOPATHIES AND UPDATED 7641 04:30:36,621 --> 04:30:37,722 GOALS AND COLLABORATIONS AND 7642 04:30:37,722 --> 04:30:39,057 DATA SHARING TOGETHER WITH SOME 7643 04:30:39,057 --> 04:30:42,994 OF THE MOST RECENT C-PATH'S 7644 04:30:42,994 --> 04:30:44,596 REGULATORY SUCCESS SUMMARY. 7645 04:30:44,596 --> 04:30:47,332 SO THOSE LESS FAMILIAR WITH THE 7646 04:30:47,332 --> 04:30:48,600 CONSORTIUM, WE ARE A 7647 04:30:48,600 --> 04:30:50,702 PUBLIC-PRIVATE PARTNERSHIP 7648 04:30:50,702 --> 04:30:52,337 GENERATED IN 2015 BY 7649 04:30:52,337 --> 04:30:54,539 COLLABORATION BETWEEN THE 7650 04:30:54,539 --> 04:30:55,740 CRITICAL PATH INSTITUTE AND 7651 04:30:55,740 --> 04:30:56,341 PARENT PROJECT MUSCULAR 7652 04:30:56,341 --> 04:30:56,608 DYSTROPHY. 7653 04:30:56,608 --> 04:30:59,010 SO THIS WAS REALLY MEANT TO COME 7654 04:30:59,010 --> 04:31:01,246 TOGETHER WITH ALL THE 7655 04:31:01,246 --> 04:31:03,048 STAKEHOLDERS FROM INDUSTRY, 7656 04:31:03,048 --> 04:31:04,816 ACADEMIA, CLINICAL RESEARCH, 7657 04:31:04,816 --> 04:31:07,752 NON-PROFIT FOUNDATIONS, PATIENT 7658 04:31:07,752 --> 04:31:10,855 ADVOCACY AND -- INITIAL FORM OF 7659 04:31:10,855 --> 04:31:12,924 THE CRITICAL PATH INSTITUTE INTO 7660 04:31:12,924 --> 04:31:13,925 THIS PRECOMPETITIVE SPACE WHERE 7661 04:31:13,925 --> 04:31:17,896 WE COULD REALLY ALL BUILD 7662 04:31:17,896 --> 04:31:18,863 TOGETHER DRUG DEVELOPMENT TOOLS 7663 04:31:18,863 --> 04:31:22,367 AS NEUTRAL CONVENER THAT WILL BE 7664 04:31:22,367 --> 04:31:24,803 NEXT AVAILABLE TO THE ENTIRE 7665 04:31:24,803 --> 04:31:26,004 COMMUNITY AND FREELY. 7666 04:31:26,004 --> 04:31:28,373 SO OUR ORIGINAL MISSION WAS 7667 04:31:28,373 --> 04:31:30,675 FOCUSED ESSENTIALLY IN 7668 04:31:30,675 --> 04:31:36,214 GENERATING THE PLATFORM AND 7669 04:31:36,214 --> 04:31:36,981 STANDARDIZING DATA SHARED IN A 7670 04:31:36,981 --> 04:31:38,983 WAY WE COULD AGGREGATE DATA FROM 7671 04:31:38,983 --> 04:31:41,152 MULTIPLE SOURCES AND THEN REALLY 7672 04:31:41,152 --> 04:31:45,590 APPLY THIS DATA WHICH ADVANCED 7673 04:31:45,590 --> 04:31:47,559 ANALYTICS COMES FROM AGGREGATION 7674 04:31:47,559 --> 04:31:49,928 INTO DRUG DEVELOPMENT TOOLS TO 7675 04:31:49,928 --> 04:31:50,428 REALLY ACCELERATE DRUG 7676 04:31:50,428 --> 04:31:51,830 DEVELOPMENT AND REDUCE THE 7677 04:31:51,830 --> 04:31:53,531 NUMBER OF PATIENTS NEEDED TO 7678 04:31:53,531 --> 04:31:54,933 DEMONSTRATE EFFICACY OF NEW 7679 04:31:54,933 --> 04:31:57,335 THERAPY. 7680 04:31:57,335 --> 04:31:59,204 THE MODEL COMES FROM THE 7681 04:31:59,204 --> 04:32:00,538 UTILIZATION OF CORE COMPETENCIES 7682 04:32:00,538 --> 04:32:02,273 THAT ARE PART OF THE CRITICAL 7683 04:32:02,273 --> 04:32:04,008 PATH INSTITUTE IN GENERAL, BUT 7684 04:32:04,008 --> 04:32:05,043 OF COURSE APPLIED TO THE 7685 04:32:05,043 --> 04:32:08,179 DUCHENNE REGULATORY SCIENCE 7686 04:32:08,179 --> 04:32:10,048 CONSORTIUM, LOOKING AT MODELING 7687 04:32:10,048 --> 04:32:13,485 AND ANALYTICS SO IN THOLGOLOGIES 7688 04:32:13,485 --> 04:32:15,353 THAT GO INTO MEDICAL MODELING, 7689 04:32:15,353 --> 04:32:17,021 REGULATORY SCIENCE WHICH 7690 04:32:17,021 --> 04:32:17,822 EMBRACES ALL OF THESE CORE 7691 04:32:17,822 --> 04:32:18,823 COMPETENCIES AND APLAYS TO ALL 7692 04:32:18,823 --> 04:32:19,791 OF THEM. 7693 04:32:19,791 --> 04:32:21,059 CLINICAL OUT COME ASSESSMENT, 7694 04:32:21,059 --> 04:32:22,761 GENERATION OF NOVEL BIOMARKERS 7695 04:32:22,761 --> 04:32:26,297 AND DATA MANAGEMENT AND DATA 7696 04:32:26,297 --> 04:32:28,500 STANDARDS AS CORE COMPETENCIES 7697 04:32:28,500 --> 04:32:30,602 SEEM AT THE BASIS OF WHAT WE DO 7698 04:32:30,602 --> 04:32:32,370 AS A DATA-DRIVEN EFFORT. 7699 04:32:32,370 --> 04:32:33,071 THIS IS A VERY LONG TIMELINE 7700 04:32:33,071 --> 04:32:36,908 THAT I SHOW FROM 2015 TO 2023 7701 04:32:36,908 --> 04:32:38,810 TODAY, BUT REALLY JUST TO 7702 04:32:38,810 --> 04:32:42,347 PROVIDE A SENSE OF HOW LONG THE 7703 04:32:42,347 --> 04:32:44,416 EFFORTS GO THROUGH AND REALLY 7704 04:32:44,416 --> 04:32:45,583 EXTEND THE TIMELINE THAT IS 7705 04:32:45,583 --> 04:32:47,819 NEEDED TO DEVELOP THESE TOOLS. 7706 04:32:47,819 --> 04:32:49,354 BUT REALLY HOW THIS INITIATIVE 7707 04:32:49,354 --> 04:32:51,489 IS ONLY POSSIBLE THANKS TO THE 7708 04:32:51,489 --> 04:32:53,792 COLLABORATION OF MANY, MANY 7709 04:32:53,792 --> 04:32:56,294 STAKEHOLDERS THAT CAME TOGETHER 7710 04:32:56,294 --> 04:32:59,898 AND REALLY ENGAGED INTO A 7711 04:32:59,898 --> 04:33:02,834 COMMUNITY-WISE EFFORT, SO HERE I 7712 04:33:02,834 --> 04:33:03,501 HIGHLIGHTED SOME OF THE 7713 04:33:03,501 --> 04:33:05,303 REGULATORY SUCCESSES AND 7714 04:33:05,303 --> 04:33:06,337 MILESTONES, MOST RECENTLY 7715 04:33:06,337 --> 04:33:12,777 RELATED TO THE CLINICAL TRIALS 7716 04:33:12,777 --> 04:33:14,379 TOOL DEVELOPED BY THE INTERNAL 7717 04:33:14,379 --> 04:33:15,747 TEAM FOCUSED ON THE FIVE END 7718 04:33:15,747 --> 04:33:18,483 POINTS COMMONLY USED IN CLINICAL 7719 04:33:18,483 --> 04:33:20,418 TRIALS FOR DUCHENNE MUSCULAR 7720 04:33:20,418 --> 04:33:24,255 DYSTROPHY. 7721 04:33:24,255 --> 04:33:25,423 TO PROVIDE A CASE EXAMPLE OF HOW 7722 04:33:25,423 --> 04:33:28,193 THIS WORKS AND WHAT'S THE 7723 04:33:28,193 --> 04:33:29,427 PROCESS, ESSENTIALLY AS 7724 04:33:29,427 --> 04:33:31,529 MENTIONED, WE DO START FROM DATA 7725 04:33:31,529 --> 04:33:32,664 AND DATA ARE COMING FROM 7726 04:33:32,664 --> 04:33:33,431 MULTIPLE SOURCES. 7727 04:33:33,431 --> 04:33:36,601 SO REALLY THE DATA SHARING 7728 04:33:36,601 --> 04:33:38,703 PROCESS IS A KEY POINT OF OUR 7729 04:33:38,703 --> 04:33:39,637 COLLABORATIONS. 7730 04:33:39,637 --> 04:33:43,174 THE CHAMPIONS THROUGHOUT THESE 7731 04:33:43,174 --> 04:33:45,043 YEARS THAT HAVE REALLY HELPED 7732 04:33:45,043 --> 04:33:48,580 THE COMMUNITY ADVANCE THE 7733 04:33:48,580 --> 04:33:50,415 ANALYTICAL POWER REALLY COMING 7734 04:33:50,415 --> 04:33:51,483 FROM THE DATA CUSTODIANS THAT 7735 04:33:51,483 --> 04:33:53,551 HAVE PUT THEIR DATA AVAILABLE TO 7736 04:33:53,551 --> 04:33:54,352 THE ENTIRE COMMUNITY OR EVEN 7737 04:33:54,352 --> 04:33:56,521 JUST TO THE ANALYTICAL TEAM AT 7738 04:33:56,521 --> 04:33:58,223 CRITICAL PATH TO AGGREGATE THE 7739 04:33:58,223 --> 04:34:02,260 DATA IN A STANDARDIZED AND VERY 7740 04:34:02,260 --> 04:34:04,395 SOPHISTICATED PROCESSES AS SHOWN 7741 04:34:04,395 --> 04:34:06,564 BY DR. ROONEY PREVIOUSLY OF 7742 04:34:06,564 --> 04:34:10,468 MODELING OR REALLY GENERATION OF 7743 04:34:10,468 --> 04:34:13,104 ANALYTICAL TOOLS THAT HAVE 7744 04:34:13,104 --> 04:34:15,440 IMPLEMENTED KNOWLEDGE ALSO 7745 04:34:15,440 --> 04:34:20,778 BIOMARKERS AND COS DEVELOPMENT. 7746 04:34:20,778 --> 04:34:23,181 SO THIS IS ONLY IMPACTFUL FOR 7747 04:34:23,181 --> 04:34:24,048 THE ADVANCEMENT OF DRUG 7748 04:34:24,048 --> 04:34:25,416 DEVELOPMENT TOOLS AND CLINICAL 7749 04:34:25,416 --> 04:34:28,386 TRIAL DESIGN, BUT REALLY ALSO 7750 04:34:28,386 --> 04:34:30,288 INFORMS THE NEAR TERM INPUT 7751 04:34:30,288 --> 04:34:32,991 COMING OUT FROM THE DATA THAT 7752 04:34:32,991 --> 04:34:38,162 WILL BE GENERATED TOMORROW. 7753 04:34:38,162 --> 04:34:40,064 SO THE DATA THAT WAS SHARED WITH 7754 04:34:40,064 --> 04:34:41,165 THE CRITICAL PATH INSTITUTE WERE 7755 04:34:41,165 --> 04:34:43,301 VERY HELPFUL TO GENERATE 7756 04:34:43,301 --> 04:34:45,537 THERAPEUTIC USER GUIDE WHICH WAS 7757 04:34:45,537 --> 04:34:49,807 PUBLISHED FIRST IN 2017 IN 7758 04:34:49,807 --> 04:34:52,544 COLLABORATION WITH CDISC, THE 7759 04:34:52,544 --> 04:34:53,745 COLLABORATION FOR DATA 7760 04:34:53,745 --> 04:34:55,280 STANDARDS, CLINICAL DATA 7761 04:34:55,280 --> 04:34:56,714 INSTITUTE STANDARD AND 7762 04:34:56,714 --> 04:35:00,051 CONSORTIUM, INTEGRATED STANDARDS 7763 04:35:00,051 --> 04:35:00,685 CONSORTIUM, ESSENTIALLY THE 7764 04:35:00,685 --> 04:35:02,353 MECHANISM FOR WHAT WE WERE ABLE 7765 04:35:02,353 --> 04:35:04,556 TO AGGREGATE DATA FROM MULTIPLE 7766 04:35:04,556 --> 04:35:05,857 SOURCES. 7767 04:35:05,857 --> 04:35:08,426 AND AS DR. ROONEY SHOWED BEFORE, 7768 04:35:08,426 --> 04:35:10,461 REALLY AGGREGATING THIS DATA 7769 04:35:10,461 --> 04:35:12,363 FROM MULTIPLE SOURCES INCLUDING 7770 04:35:12,363 --> 04:35:13,965 OBSERVATIONAL AND CLINICAL TRIAL 7771 04:35:13,965 --> 04:35:18,703 DATA HAS ALLOWED US TO PERFORM 7772 04:35:18,703 --> 04:35:19,571 SOPHISTICATED MODELING AND 7773 04:35:19,571 --> 04:35:22,307 GENERATION OF MULTIMODAL MODELS 7774 04:35:22,307 --> 04:35:23,808 INCORPORATED IN THE OUTPUT THAT 7775 04:35:23,808 --> 04:35:25,577 REALLY AMPLIFIES UNDERSTANDING 7776 04:35:25,577 --> 04:35:28,112 OF DISEASE PROGRESSION, THE 7777 04:35:28,112 --> 04:35:30,181 TRAJECTORY RATE OF POTENTIAL 7778 04:35:30,181 --> 04:35:32,483 PREDICTORS AND THE GENERATION OF 7779 04:35:32,483 --> 04:35:34,018 SOMETHING THAT CAN BE ALSO 7780 04:35:34,018 --> 04:35:36,254 USER-FRIENDLY FOR THE COMMUNITY 7781 04:35:36,254 --> 04:35:39,857 ALL TO UNDERSTAND HOW CLINICAL 7782 04:35:39,857 --> 04:35:44,495 TRIAL DESIGN CAN BE OPTIMIZED. 7783 04:35:44,495 --> 04:35:47,565 SO HERE I SUMMARIZED SOME OF THE 7784 04:35:47,565 --> 04:35:49,901 STEPS AND IMPORTANCE HIGHLIGHT 7785 04:35:49,901 --> 04:35:53,471 ON WHY REGULATORY ENDORSEMENT OF 7786 04:35:53,471 --> 04:35:55,106 THESE TOOLS IS REALLY KEY FOR 7787 04:35:55,106 --> 04:35:58,009 THE ENTIRE COMMUNITY. 7788 04:35:58,009 --> 04:36:01,312 AND THE NEWS FROM THE 2022 7789 04:36:01,312 --> 04:36:03,114 SUPPORT LETTER THAT WE RECEIVED 7790 04:36:03,114 --> 04:36:05,583 FROM THE EMA SO THE SAME TOOL 7791 04:36:05,583 --> 04:36:09,053 THAT IS ORGANIZED FOR THE 7792 04:36:09,053 --> 04:36:10,588 DEVELOPMENT OF DISEASE 7793 04:36:10,588 --> 04:36:13,124 PROGRESSION MODELS OF FIVE 7794 04:36:13,124 --> 04:36:14,459 FUNCTIONAL ASSESSMENTS AND 7795 04:36:14,459 --> 04:36:15,860 RESPIRATORY END POINT INCLUDING 7796 04:36:15,860 --> 04:36:17,829 CLINICAL TRIALS FOR DUCHENNE IS 7797 04:36:17,829 --> 04:36:20,064 CURRENTLY ALSO UNDER THE 7798 04:36:20,064 --> 04:36:22,300 SUBMISSION AND REVIEW AT THE 7799 04:36:22,300 --> 04:36:25,470 FDA, AND THE TOOL IS REALLY 7800 04:36:25,470 --> 04:36:28,806 MEANT TO PROVIDE EARLY 7801 04:36:28,806 --> 04:36:34,178 INDICATION ON HOW TO SIMULATE 7802 04:36:34,178 --> 04:36:35,046 INCLINIC TRIAL DESIGN. 7803 04:36:35,046 --> 04:36:36,481 SOME OF THE UPDATED GOALS AND 7804 04:36:36,481 --> 04:36:37,715 COLLABORATIONS I WANTED TO SHOW 7805 04:36:37,715 --> 04:36:42,654 TODAY IS REALLY COMING FROM THE 7806 04:36:42,654 --> 04:36:43,721 ANNOUNCEMENT AND EXPANSION OF 7807 04:36:43,721 --> 04:36:45,089 OUR DATASET. 7808 04:36:45,089 --> 04:36:46,724 SO THE DATABASE FOR DUCHENNE 7809 04:36:46,724 --> 04:36:47,725 MUSCULAR DYSTROPHY GROWTH HAS 7810 04:36:47,725 --> 04:36:51,529 ALLOWED US TO ALSO PERFORM NEW 7811 04:36:51,529 --> 04:36:52,964 ANALYTICS AND AGGREGATE ENOUGH 7812 04:36:52,964 --> 04:36:55,500 DATA FOR THE SUBMISSION OF A 7813 04:36:55,500 --> 04:36:56,868 QUALIFICATION PACKAGE FOR A 7814 04:36:56,868 --> 04:37:00,605 SAFETY BIOMARKERS OF GLDH AS 7815 04:37:00,605 --> 04:37:04,242 SAFETY BIOMARKER DAILY IN 7816 04:37:04,242 --> 04:37:05,243 INDIVIDUALS WITH UNDERLYING 7817 04:37:05,243 --> 04:37:07,111 MUSCLE DAMAGE, INCLUDING, OF 7818 04:37:07,111 --> 04:37:07,645 COURSE, DUCHENNE MUSCULAR 7819 04:37:07,645 --> 04:37:09,914 DYSTROPHY, BUT ALSO OTHER 7820 04:37:09,914 --> 04:37:13,718 DYSTROPHIES IN GENERAL. 7821 04:37:13,718 --> 04:37:14,786 ADDITIONAL EFFORTS HAVE BEEN 7822 04:37:14,786 --> 04:37:16,587 REALLY RELEVANT TO THE SUPPORT 7823 04:37:16,587 --> 04:37:19,057 OF THE DEVELOPMENT OF A MASTER 7824 04:37:19,057 --> 04:37:21,526 PROTOCOL FOR DUCHENNE PLATFORM 7825 04:37:21,526 --> 04:37:23,461 TRIAL AS WELL AS THE 7826 04:37:23,461 --> 04:37:27,465 COLLABORATION WITH IMAGING NMD 7827 04:37:27,465 --> 04:37:30,468 FOR MODEL BASED CLINICAL TRIAL 7828 04:37:30,468 --> 04:37:32,370 SIMULATION TOOL AND MOST 7829 04:37:32,370 --> 04:37:32,970 RECENTLY REALLY THE COMMUNITY 7830 04:37:32,970 --> 04:37:35,073 HAS COME TOGETHER TO ENGAGE 7831 04:37:35,073 --> 04:37:38,643 INITIALLY FOCUSED ON CARDIAC 7832 04:37:38,643 --> 04:37:41,179 DMD, AS WE KNOW IS UNDERLYING 7833 04:37:41,179 --> 04:37:42,346 CAUSE OF DEATH IN DUCHENNE AND 7834 04:37:42,346 --> 04:37:44,916 WE REALLY ARE TRYING TO ADVANCE 7835 04:37:44,916 --> 04:37:46,718 KNOWLEDGE OF THE TOOLS, OUTCOMES 7836 04:37:46,718 --> 04:37:47,719 AND END POINTS THAT ARE 7837 04:37:47,719 --> 04:37:49,887 CURRENTLY AVAILABLE AND WE CAN 7838 04:37:49,887 --> 04:37:51,522 IMPLEMENT INTO THESE DISEASE 7839 04:37:51,522 --> 04:37:53,591 PROGRESSION MODELS NEXT. 7840 04:37:53,591 --> 04:37:58,062 SO REALLY THE EVALUATION ALSO OF 7841 04:37:58,062 --> 04:37:59,797 HOW READY ARE SOME OF THE 7842 04:37:59,797 --> 04:38:02,066 MARKERS AVAILABLE IN FLUID 7843 04:38:02,066 --> 04:38:02,700 BIOMARKERS AND UNDERSTANDING IF 7844 04:38:02,700 --> 04:38:06,170 WE CAN IMPLEMENT THE KNOWLEDGE 7845 04:38:06,170 --> 04:38:07,371 AND PROGRESSION OF THIS 7846 04:38:07,371 --> 04:38:08,906 KNOWLEDGE INTO THE APPLICATION 7847 04:38:08,906 --> 04:38:13,277 FOR DRUG DEVELOPMENT TOOLS. 7848 04:38:13,277 --> 04:38:16,114 HOW WOULD HE WE DO THIS, OF COUS 7849 04:38:16,114 --> 04:38:17,715 BASED ON DATA SHARING, SO REALLY 7850 04:38:17,715 --> 04:38:19,117 DATA SHARING IS KEY FOR US TO 7851 04:38:19,117 --> 04:38:22,854 HAVE SUCCESSFUL PATHWAY FORWARD, 7852 04:38:22,854 --> 04:38:24,388 AND APPLICATION OF QUANTITATIVE 7853 04:38:24,388 --> 04:38:27,058 METHODOLOGIES, AI, MACHINE 7854 04:38:27,058 --> 04:38:28,726 LEARNING, ANALYTICS THAT ARE 7855 04:38:28,726 --> 04:38:30,394 LOOKING AT DIGITAL HEALTH 7856 04:38:30,394 --> 04:38:31,763 TECHNOLOGIES AND DIGITALLY 7857 04:38:31,763 --> 04:38:34,799 MEASURED OUTCOMES AND HOW WE CAN 7858 04:38:34,799 --> 04:38:36,400 IMPLEMENT THOSE TO UNDERSTANDING 7859 04:38:36,400 --> 04:38:37,735 BERT THE TRIAL DESIGN AND THE 7860 04:38:37,735 --> 04:38:41,973 SEPTEMBERIZATHECENTRALIZATION O. 7861 04:38:41,973 --> 04:38:42,940 AS WE LEARN MORE ABOUT DUCHENNE, 7862 04:38:42,940 --> 04:38:44,041 WE KNOW THAT WE CAN APPLY THE 7863 04:38:44,041 --> 04:38:47,612 SAME LEARNINGS TOWARDS OTHERS' 7864 04:38:47,612 --> 04:38:48,179 THERAPEUTIC AREAS, SO WE ARE 7865 04:38:48,179 --> 04:38:51,249 LOOKING AT COLLABORATIONS FOR 7866 04:38:51,249 --> 04:38:53,050 EXPANSIONS ON OUR KNOWLEDGE ON 7867 04:38:53,050 --> 04:38:54,652 PROJECT-SPECIFIC TASK FORCE FOR 7868 04:38:54,652 --> 04:38:56,521 OTHER SPACES IN THE 7869 04:38:56,521 --> 04:38:59,457 NEUROMUSCULAR DISORDERS. 7870 04:38:59,457 --> 04:39:01,359 THIS IS JUST A TABLE SHOWING 7871 04:39:01,359 --> 04:39:04,162 REALLY THE EFFORT IMPACT 7872 04:39:04,162 --> 04:39:05,863 DIRECTION WHERE WE GO FROM A 7873 04:39:05,863 --> 04:39:07,498 CLINICAL TRIAL SIMULATION TO THE 7874 04:39:07,498 --> 04:39:11,035 IMPACT REALLY DIRECTLY GOES TO 7875 04:39:11,035 --> 04:39:12,470 TRIAL DESIGN BUT ALSO INDIRECTLY 7876 04:39:12,470 --> 04:39:15,373 TO THE PATIENT POPULATION BY 7877 04:39:15,373 --> 04:39:17,175 ANNOUNCING THE TRIAL DESIGN AND 7878 04:39:17,175 --> 04:39:18,242 POTENTIALLY REDUCING THE NUMBER 7879 04:39:18,242 --> 04:39:22,146 OF PLACEBO NEEDED IN TRIALS, 7880 04:39:22,146 --> 04:39:26,651 COLLABORATION WITH THE CDISC FOR 7881 04:39:26,651 --> 04:39:33,391 STASTANDARDIZATION IS HELPING 7882 04:39:33,391 --> 04:39:35,126 UNDERSTAND HOW IMPORTANT WILL BE 7883 04:39:35,126 --> 04:39:37,295 TO START UTILIZING MRI IMAGING 7884 04:39:37,295 --> 04:39:38,729 EARLY ON IN INDIVIDUALS WITH 7885 04:39:38,729 --> 04:39:40,198 DUCHENNE MUSCULAR DYSTROPHY TO 7886 04:39:40,198 --> 04:39:44,168 REALLY DETECT EARLY ON PROCESSES 7887 04:39:44,168 --> 04:39:45,536 OF FIBROSIS IN THE CARDIAC 7888 04:39:45,536 --> 04:39:46,504 MUSCLE. 7889 04:39:46,504 --> 04:39:49,574 AND OF COURSE THE PROCESS OF 7890 04:39:49,574 --> 04:39:50,708 QUALIFICATION OF A SAFETY 7891 04:39:50,708 --> 04:39:54,212 BIOMARKER THAT ALLOWS 7892 04:39:54,212 --> 04:39:55,646 DISCRIMINATION OF TARGETS FOR 7893 04:39:55,646 --> 04:39:57,515 DRUG EFFECT WILL IMPROVE OUR 7894 04:39:57,515 --> 04:39:59,650 SAFETY IN DMD TRIALS BUT ALSO 7895 04:39:59,650 --> 04:40:03,287 OTHER TRIALS RELATED TO MUSCLE 7896 04:40:03,287 --> 04:40:03,955 DAMAGE DISEASES AND WHENEVER WE 7897 04:40:03,955 --> 04:40:06,224 SEE AN INCREASE OF CK. 7898 04:40:06,224 --> 04:40:09,493 SO THIS IS REALLY MEANT TO BE A 7899 04:40:09,493 --> 04:40:11,529 COMMUNITY EFFORT, AND THIS IS A 7900 04:40:11,529 --> 04:40:14,532 VERY CROWDED SLIDE BUT REALLY IT 7901 04:40:14,532 --> 04:40:16,467 MEANT TO SHOW THE NUMBER OF 7902 04:40:16,467 --> 04:40:17,602 STAKEHOLDERS INVOLVED AND THE 7903 04:40:17,602 --> 04:40:21,172 WAY WE SET UP THE CONSORTIUM IS 7904 04:40:21,172 --> 04:40:23,307 TO HAVE A MAIN COORDINATING 7905 04:40:23,307 --> 04:40:24,809 COMMITTEE MEETING, AND THEN 7906 04:40:24,809 --> 04:40:29,113 REALLY SUBDI V SUBDIVISIONS OR 7907 04:40:29,113 --> 04:40:30,848 SUBCOMMITTEES ARE FOCUSED ON 7908 04:40:30,848 --> 04:40:32,049 MORE SPECIFIC TOPICS FOR 7909 04:40:32,049 --> 04:40:36,854 MODELING AND SIMULATION, 7910 04:40:36,854 --> 04:40:38,623 CARDIAC, ADD OCC PUBLICATION AND 7911 04:40:38,623 --> 04:40:40,925 IN THE NEAR FUTURE A FLUID 7912 04:40:40,925 --> 04:40:41,893 BIOMARKER FOCUS GROUP. 7913 04:40:41,893 --> 04:40:43,461 SO REALLY SHARING ALL THE 7914 04:40:43,461 --> 04:40:45,029 INFORMATION, KNOWLEDGE AND 7915 04:40:45,029 --> 04:40:46,264 RESOURCES WILL BRING US TO SHARE 7916 04:40:46,264 --> 04:40:50,034 OUR SUCCESSES FOR TOMORROW. 7917 04:40:50,034 --> 04:40:52,904 HERE ARE SOME HIGHLIGHTS FROM 7918 04:40:52,904 --> 04:40:58,109 2023 PUBLICATIONS, AND REALLY 7919 04:40:58,109 --> 04:40:59,243 MAKING THIS A WORLDWIDE 7920 04:40:59,243 --> 04:40:59,744 COLLABORATION. 7921 04:40:59,744 --> 04:41:01,078 SO WE HAVE COLLABORATORS IN 7922 04:41:01,078 --> 04:41:02,246 EUROPE. 7923 04:41:02,246 --> 04:41:05,750 WE JUST HAVE INTEGRATION 7924 04:41:05,750 --> 04:41:07,318 STAKEHOLDERS IN CANADA, JAPAN, 7925 04:41:07,318 --> 04:41:08,686 CHINA, AND WE'RE LOOKING FORWARD 7926 04:41:08,686 --> 04:41:12,356 TO REALLY EXPAND OUR RESOURCES 7927 04:41:12,356 --> 04:41:16,961 TO EMBRACE THIS GLOBAL COMMUNITY 7928 04:41:16,961 --> 04:41:18,729 IN THE ENTIRE -- WORLDWIDE. 7929 04:41:18,729 --> 04:41:20,598 SO THE DUCHENNE REGULATORY 7930 04:41:20,598 --> 04:41:23,267 SCIENCE CONSORTIUM IS PART OF 7931 04:41:23,267 --> 04:41:26,871 THE C-PATH RARE AND ORPHAN 7932 04:41:26,871 --> 04:41:30,041 DISEASE PROGRAM. 7933 04:41:30,041 --> 04:41:33,277 WE WERE ALSO ABLE TO HAVE SOME 7934 04:41:33,277 --> 04:41:37,014 CROSS LEARNINGS ACROSS MULTIPLE 7935 04:41:37,014 --> 04:41:40,451 DISEASES INCLUDING ALS AND OTHER 7936 04:41:40,451 --> 04:41:41,352 NEUROLOGICAL, NEURODEGENERATIVE 7937 04:41:41,352 --> 04:41:43,020 DISEASES IN THE RARE SPACE, SO 7938 04:41:43,020 --> 04:41:44,956 REALLY THIS HAS BEEN KEY FOR US 7939 04:41:44,956 --> 04:41:46,590 TO DEVELOP A MECHANISM SYSTEM 7940 04:41:46,590 --> 04:41:49,360 FOR HIGHLIGHTING OUR POWER FOR 7941 04:41:49,360 --> 04:41:52,163 COLLABORATION AND THE NEED FOR 7942 04:41:52,163 --> 04:41:52,663 SUCH PRECOMPETITIVE 7943 04:41:52,663 --> 04:41:55,333 COLLABORATION TO ADVANCE DRUG 7944 04:41:55,333 --> 04:41:56,701 DEVELOPMENT IN THE RARE DISEASE 7945 04:41:56,701 --> 04:41:56,968 SPACE. 7946 04:41:56,968 --> 04:41:58,970 AS YOU CAN SEE THE NUMBER OF 7947 04:41:58,970 --> 04:42:03,174 STAKEHOLDERS IS REALLY EXTEN 7948 04:42:03,174 --> 04:42:05,176 EXTENSIVE, BUT THIS IS THE 7949 04:42:05,176 --> 04:42:11,449 ENTIRE COMMUNITY FOR -- AND 7950 04:42:11,449 --> 04:42:12,483 BEYOND. 7951 04:42:12,483 --> 04:42:13,617 I WOULD LIKE TO HIGHLIGHT SOME 7952 04:42:13,617 --> 04:42:15,786 OF C-PATH'S REGULATORY SUCCESSES 7953 04:42:15,786 --> 04:42:17,488 COMING UP FOR TODAY TO REALLY 7954 04:42:17,488 --> 04:42:21,959 SHOW THE POWER OF PRECOMPETITIVE 7955 04:42:21,959 --> 04:42:23,861 COLLABORATION OF THE COMMUNITY 7956 04:42:23,861 --> 04:42:27,131 AND HOW MUCH IT WOULD TAKE TO 7957 04:42:27,131 --> 04:42:27,665 INDIVIDUAL STAKEHOLDERS TO 7958 04:42:27,665 --> 04:42:29,900 INVEST IN REGULATORY ENDORSEMENT 7959 04:42:29,900 --> 04:42:31,035 AND HOW IMPORTANT IT WOULD BE TO 7960 04:42:31,035 --> 04:42:32,436 COME TOGETHER IN A 7961 04:42:32,436 --> 04:42:35,006 PRECOMPETITIVE SPACE TO ADVANCE 7962 04:42:35,006 --> 04:42:36,240 THE DRUG DEVELOPMENT FASTER. 7963 04:42:36,240 --> 04:42:39,210 THE SAME IS RELEVANT TO THE EMA 7964 04:42:39,210 --> 04:42:40,644 SUBMISSION, THE CRITICAL PATH 7965 04:42:40,644 --> 04:42:42,913 INSTITUTE HAS A GREAT NUMBER OF 7966 04:42:42,913 --> 04:42:46,083 LETTERS OF SUPPORT AND 7967 04:42:46,083 --> 04:42:47,985 QUALIFICATION OPINIONS, WHICH 7968 04:42:47,985 --> 04:42:51,989 REPRESENTS THE 23.5% OF THE 7969 04:42:51,989 --> 04:42:54,992 TOTAL COMBINED OF OTHER 7970 04:42:54,992 --> 04:42:55,393 ORGANIZATIONS. 7971 04:42:55,393 --> 04:42:57,161 THIS WAS ONLY POSSIBLE THANKS TO 7972 04:42:57,161 --> 04:43:00,064 AN INCREASE OF 135% OF OUR DATA 7973 04:43:00,064 --> 04:43:01,465 SHARING PROCESSES IN THE PAST 7974 04:43:01,465 --> 04:43:03,467 FIVE YEARS. 7975 04:43:03,467 --> 04:43:04,935 SO WE ARE EXTREMELY GRATEFUL TO 7976 04:43:04,935 --> 04:43:07,738 ALL THE DATA CUSTODIANS THAT 7977 04:43:07,738 --> 04:43:11,042 REALLY WERE READY TO ADVOCATE 7978 04:43:11,042 --> 04:43:16,514 FOR THE -- OF THE DATA AND 7979 04:43:16,514 --> 04:43:18,282 THE -- THAT ARE SHARING THAT 7980 04:43:18,282 --> 04:43:21,652 TRANSFORMATION AND CURATION 7981 04:43:21,652 --> 04:43:23,521 AND -- FOR DELIVERY OF THESE 7982 04:43:23,521 --> 04:43:25,022 DATA TO THE ENTIRE COMMUNITY IN 7983 04:43:25,022 --> 04:43:26,690 THE FORM OF A DRUG DEVELOPMENT 7984 04:43:26,690 --> 04:43:28,692 TOOL THAT WOULD ADVANCE 7985 04:43:28,692 --> 04:43:32,196 EFFECTIVELY THE DRUG DEVELOPMENT 7986 04:43:32,196 --> 04:43:34,799 FOR RARE DISEASE AND NON-RARE 7987 04:43:34,799 --> 04:43:35,099 DISEASES. 7988 04:43:35,099 --> 04:43:36,801 WITH THIS, I WILL THANK YOU AND 7989 04:43:36,801 --> 04:43:38,602 SEE IF YOU HAVE ANY QUESTIONS. 7990 04:43:38,602 --> 04:43:42,239 THANK YOU, EVERYONE. 7991 04:43:42,239 --> 04:43:43,808 >> THANK YOU SO MUCH, RAMONA. 7992 04:43:43,808 --> 04:43:46,811 I THINK THERE'S ONE COMMENT OR 7993 04:43:46,811 --> 04:43:49,513 QUESTION IN THE CHAT BOX. 7994 04:43:49,513 --> 04:43:51,482 >> THANK YOU FOR A GREAT 7995 04:43:51,482 --> 04:43:52,650 PRESENTATION. 7996 04:43:52,650 --> 04:43:56,620 THIS IS HUIQING LI, PROGRAM 7997 04:43:56,620 --> 04:43:57,955 DIRECTOR FROM THE NATIONAL HEART 7998 04:43:57,955 --> 04:43:59,023 LUNG BLOOD INSTITUTE. 7999 04:43:59,023 --> 04:44:01,125 I'M VERY GLAD TO SEE DATA 8000 04:44:01,125 --> 04:44:02,093 SHARING RELATED PRESENTATIONS 8001 04:44:02,093 --> 04:44:04,195 FROM THE MUSCULAR DYSTROPHY 8002 04:44:04,195 --> 04:44:04,795 COMMUNITY. 8003 04:44:04,795 --> 04:44:09,600 I'M REALLY CURIOUS, I MISSED 8004 04:44:09,600 --> 04:44:10,801 THIS, HOW TO ACCESS TO THE 8005 04:44:10,801 --> 04:44:13,604 DATASET, AND IF I'M INTERESTED, 8006 04:44:13,604 --> 04:44:15,673 HOW TO JOIN THE WORKING GROUP, 8007 04:44:15,673 --> 04:44:16,474 CARDIAC-SPECIFIC WORKING GROUP. 8008 04:44:16,474 --> 04:44:17,575 THANK YOU. 8009 04:44:17,575 --> 04:44:19,810 >> SURE. 8010 04:44:19,810 --> 04:44:22,947 SO THE DECISION MADE ON THE 8011 04:44:22,947 --> 04:44:24,849 SHAREABILITY LEVEL OF EACH OF 8012 04:44:24,849 --> 04:44:25,983 THE INDIVIDUAL DATASETS IS 8013 04:44:25,983 --> 04:44:30,087 REALLY UP TO THE DATA CUSTODIAN, 8014 04:44:30,087 --> 04:44:32,123 SO WE HAVE A VERY ESTABLISHED 8015 04:44:32,123 --> 04:44:33,557 PROCESS FOR DATA SHARING WITHIN 8016 04:44:33,557 --> 04:44:36,093 THE CRITICAL PATH INSTITUTE, 8017 04:44:36,093 --> 04:44:37,761 WHICH THE LEGAL AGREEMENT FOR 8018 04:44:37,761 --> 04:44:38,863 DATA SHARING WOULD ALLOW THE 8019 04:44:38,863 --> 04:44:41,966 DATA CUSTODIAN TO DECIDE HOW 8020 04:44:41,966 --> 04:44:44,268 BROADLY OR CONFIDENTIALLY THE 8021 04:44:44,268 --> 04:44:45,469 DATA CAN BE SHARED. 8022 04:44:45,469 --> 04:44:49,306 SO WITHIN OUR DATABASE, WE HAVE 8023 04:44:49,306 --> 04:44:51,442 24 DATASETS CURRENTLY. 8024 04:44:51,442 --> 04:44:53,878 NINE OF THOSE ARE SHAREABLE IN 8025 04:44:53,878 --> 04:44:56,580 OUR PLATFORMS, AND TWO MORE ARE 8026 04:44:56,580 --> 04:44:59,950 GOING TO BE SHAREABLE NEXT, 8027 04:44:59,950 --> 04:45:03,787 AFTER A PROCESS OF EMBARGO 8028 04:45:03,787 --> 04:45:05,055 RELEASE -- APPLIED. 8029 04:45:05,055 --> 04:45:09,059 SO ONE ADDITIONAL NOTE HERE IS 8030 04:45:09,059 --> 04:45:11,662 THAT A DATA CUSTODIAN CAN CHOOSE 8031 04:45:11,662 --> 04:45:12,897 TO LIMIT THE USE OF DATA 8032 04:45:12,897 --> 04:45:13,731 TEMPORARILY WHILE ALREADY 8033 04:45:13,731 --> 04:45:16,167 INITIATING PROCESSES OF CURATION 8034 04:45:16,167 --> 04:45:16,800 AND TRANSFER OF THE DATA INTO 8035 04:45:16,800 --> 04:45:22,339 THE PLATFORM WHILE THEY ARE 8036 04:45:22,339 --> 04:45:23,274 WAITING FOR PUBLICATIONS TO COME 8037 04:45:23,274 --> 04:45:23,507 OVER. 8038 04:45:23,507 --> 04:45:25,176 SO IT'S REALLY UP TO THE DATA 8039 04:45:25,176 --> 04:45:27,411 CUSTODIAN TO MAKE THE FINAL 8040 04:45:27,411 --> 04:45:29,580 DECISION ON HOW THE DATA CAN BE 8041 04:45:29,580 --> 04:45:32,082 SHARED, AND WE HAVE TWO 8042 04:45:32,082 --> 04:45:35,286 PLATFORMS THAT CURRENTLY HOST 8043 04:45:35,286 --> 04:45:40,124 DMD DATA, THE CODER PLATFORM 8044 04:45:40,124 --> 04:45:42,092 YOU'LL FIND ON OUR WEBSITE, I 8045 04:45:42,092 --> 04:45:43,093 THINK I PUT THE LINKS IN THE 8046 04:45:43,093 --> 04:45:44,228 SLIDE BUT I'LL BE HAPPY TO SHARE 8047 04:45:44,228 --> 04:45:47,064 IN THE CHAT RIGHT AFTER THE 8048 04:45:47,064 --> 04:45:50,601 LINK, AND THE RDCA DATA PLATFORM 8049 04:45:50,601 --> 04:45:53,604 WHICH HOSTS THE RARE DISEASE -- 8050 04:45:53,604 --> 04:45:55,306 DATA ANALYTIC PLATFORM, HOSTING 8051 04:45:55,306 --> 04:45:57,441 ALL DATA FOR THE RARE DISEASES 8052 04:45:57,441 --> 04:45:59,710 IN CRITICAL PATH INSTITUTE. 8053 04:45:59,710 --> 04:46:01,412 AND WE HAVE SOME OF THE DATA 8054 04:46:01,412 --> 04:46:04,949 ALSO SHARED IN THE RDC PLATFORM 8055 04:46:04,949 --> 04:46:08,552 AS WE ARE -- ALL THE DUE SHIN 8056 04:46:08,552 --> 04:46:10,454 SHEN DATA WILL BE SOON PART OF 8057 04:46:10,454 --> 04:46:11,488 THE PLATFORM. 8058 04:46:11,488 --> 04:46:15,359 SO YOU WILL FIND SOME OF THE 8059 04:46:15,359 --> 04:46:16,894 INFORMATION THERE AND FOR THE 8060 04:46:16,894 --> 04:46:18,729 PROCESS OF MEMBERSHIP OF THE 8061 04:46:18,729 --> 04:46:20,531 CONSORTIUM, WE HAVE A STRUCTURE 8062 04:46:20,531 --> 04:46:22,066 IN PLACE FOR DEPENDING ON THE 8063 04:46:22,066 --> 04:46:24,902 NATURE OF THE STAKEHOLDER, WE 8064 04:46:24,902 --> 04:46:29,373 HAVE A FEE MEMBERSHIP FOR 8065 04:46:29,373 --> 04:46:32,509 INDUSTRY AND ALSO NON-PROFITS 8066 04:46:32,509 --> 04:46:37,281 JOINING AS WELL AS ADVISERS FROM 8067 04:46:37,281 --> 04:46:39,049 ACADEMIA, SO I'LL BE HAPPY TO 8068 04:46:39,049 --> 04:46:40,818 GET BACK TO YOU ON SOME OF THE 8069 04:46:40,818 --> 04:46:45,556 PROCESSES TO JOIN THE EFFORTS 8070 04:46:45,556 --> 04:46:46,190 AND THE WORKING GROUPS. 8071 04:46:46,190 --> 04:46:47,925 >> THANK YOU. 8072 04:46:47,925 --> 04:46:49,159 CAROL TAYLOR-BURDS HAS HER HAND 8073 04:46:49,159 --> 04:46:49,426 UP. 8074 04:46:49,426 --> 04:46:50,427 >> THANKS. 8075 04:46:50,427 --> 04:46:52,096 GREAT PRESENTATION. 8076 04:46:52,096 --> 04:46:53,564 I'M JUST CURIOUS, DO YOU KNOW 8077 04:46:53,564 --> 04:46:54,465 HOW MANY OFF THE TOP OF YOUR 8078 04:46:54,465 --> 04:46:56,600 HEAD ARE ACADEMICS USING THE 8079 04:46:56,600 --> 04:46:58,102 MODELING TOOLS AS WELL OR IS IT 8080 04:46:58,102 --> 04:47:00,170 PRIMARILY INDUSTRY? 8081 04:47:00,170 --> 04:47:02,339 >> IT IS CERTAINLY A DRUG 8082 04:47:02,339 --> 04:47:04,108 DEVELOPMENT TOOL, SO IT REALLY 8083 04:47:04,108 --> 04:47:05,609 INFORMS CLINICAL TRIAL DESIGN, 8084 04:47:05,609 --> 04:47:08,479 BUT WE DO HAVE AN EXTENSIVE 8085 04:47:08,479 --> 04:47:11,682 NUMBER OF ACADEMIC INSTITUTIONS 8086 04:47:11,682 --> 04:47:14,852 THAT AS MAIN POINT OF CONTEXT 8087 04:47:14,852 --> 04:47:16,787 FOR CLINICAL TRIAL SITE ARE 8088 04:47:16,787 --> 04:47:20,891 REALLY TRYING TO GET AS MUCH 8089 04:47:20,891 --> 04:47:23,394 FROM US AS THEY CAN, SO YOU CAN 8090 04:47:23,394 --> 04:47:24,328 TELL THERE IS INTEREST IN THE 8091 04:47:24,328 --> 04:47:25,596 DEVELOPMENT FROM A RESEARCH 8092 04:47:25,596 --> 04:47:28,766 POINT OF VIEW, AND THEN THE 8093 04:47:28,766 --> 04:47:29,733 APPLICATION IN CLINICAL RESEARCH 8094 04:47:29,733 --> 04:47:32,036 FROM THE DRUG DEVELOPERS. 8095 04:47:32,036 --> 04:47:34,071 SO IT'S REALLY -- IT'S HARD TO 8096 04:47:34,071 --> 04:47:36,407 SAY HOW MANY, BUT IT'S PRETTY 8097 04:47:36,407 --> 04:47:39,343 MUCH AT LEAST ONE INDIVIDUAL 8098 04:47:39,343 --> 04:47:41,645 FROM EACH OF THESE INSTITUTIONS' 8099 04:47:41,645 --> 04:47:42,946 MEMBERS HAVE APPROACHED THE 8100 04:47:42,946 --> 04:47:45,416 TOOL. 8101 04:47:45,416 --> 04:47:46,650 >> GREAT. 8102 04:47:46,650 --> 04:47:47,785 OKAY, GLEN, OVER TO YOU. 8103 04:47:47,785 --> 04:47:50,721 >> YES, I'M CURIOUS, WHAT IS THE 8104 04:47:50,721 --> 04:47:55,059 PROCESS BY WHICH CRITICAL PATH 8105 04:47:55,059 --> 04:47:56,427 SELECTS A NEW DISEASE AREA TO 8106 04:47:56,427 --> 04:47:58,462 BUILD SUCH A CONSORTIUM AROUND? 8107 04:47:58,462 --> 04:48:00,064 AND PERHAPS RELATED TO THAT 8108 04:48:00,064 --> 04:48:03,701 QUESTION IS, WHAT'S THE FUNDING 8109 04:48:03,701 --> 04:48:04,234 STRUCTURE? 8110 04:48:04,234 --> 04:48:08,138 WHO PAYS FOR THIS AND HOW MUCH 8111 04:48:08,138 --> 04:48:10,574 DOES IT COST? 8112 04:48:10,574 --> 04:48:12,343 >> SO I'D BE HAPPY TO PROVIDE 8113 04:48:12,343 --> 04:48:13,711 SOME OF THE DETAILS. 8114 04:48:13,711 --> 04:48:16,680 YOU KNOW, WE HAVE MANY 8115 04:48:16,680 --> 04:48:18,649 CONVERSATIONS WITHIN THE SPACE 8116 04:48:18,649 --> 04:48:20,684 ON HOW WE CAN -- YOU KNOW, NEW 8117 04:48:20,684 --> 04:48:22,653 AREAS CAN APPROACH CRITICAL PATH 8118 04:48:22,653 --> 04:48:26,557 INSTITUTE, AND IT REALLY DEPENDS 8119 04:48:26,557 --> 04:48:27,725 ON THE DIFFERENT POINTS. 8120 04:48:27,725 --> 04:48:31,395 ONE OF THEM IS CERTAINLY THAT 8121 04:48:31,395 --> 04:48:33,464 READINESS OF THE AREA IN TERMS 8122 04:48:33,464 --> 04:48:35,966 OF PIPELINE, HOW MUCH DATA IS 8123 04:48:35,966 --> 04:48:38,202 BEING COLLECTED AND GENERATED, 8124 04:48:38,202 --> 04:48:41,238 AND BECAUSE EVERYTHING IS REALLY 8125 04:48:41,238 --> 04:48:42,406 A DATA-DRIVEN EFFORT, WE WILL 8126 04:48:42,406 --> 04:48:44,408 NEED TO START FROM DATA TO BUILD 8127 04:48:44,408 --> 04:48:46,176 NEW KNOWLEDGE AND SO REALLY IT 8128 04:48:46,176 --> 04:48:49,913 IS IMPORTANT TO LOOK AT THE 8129 04:48:49,913 --> 04:48:50,981 REGULATORY READINESS FROM A 8130 04:48:50,981 --> 04:48:53,751 POINT OF VIEW OF WHAT'S -- 8131 04:48:53,751 --> 04:48:56,820 MAKING SURE WE HAVE A DEFINED 8132 04:48:56,820 --> 04:48:58,155 UNMET NEED AND GAP IN THE SPACE, 8133 04:48:58,155 --> 04:48:59,456 BUT ALSO MAKING SURE THAT WE 8134 04:48:59,456 --> 04:49:03,327 HAVE ENOUGH DATA TO WORK WITH TO 8135 04:49:03,327 --> 04:49:05,729 THEN EXTRAPOLATE NEW INFORMATION 8136 04:49:05,729 --> 04:49:10,367 TO ENHANCE THE SPACE. 8137 04:49:10,367 --> 04:49:11,635 THEN REALLY THIS COMES, IN THE 8138 04:49:11,635 --> 04:49:13,737 CASE OF DUCHENNE, THERE WAS AN 8139 04:49:13,737 --> 04:49:15,105 INITIATIVE, REALLY THE ENTIRE 8140 04:49:15,105 --> 04:49:18,575 COMMUNITY CAME TOGETHER AND -- 8141 04:49:18,575 --> 04:49:20,344 PSM PMD AND CRITICAL PATH 8142 04:49:20,344 --> 04:49:23,046 INSTITUTE AS CO-FOUNDERS, 8143 04:49:23,046 --> 04:49:24,014 GENETIC -- CONSORTIUM, BUT FOR 8144 04:49:24,014 --> 04:49:27,951 OTHER CASES, WE HAVE OTHER 8145 04:49:27,951 --> 04:49:29,453 SPACES WHERE THE EVALUATION OF 8146 04:49:29,453 --> 04:49:31,054 THE READINESS WAS PERFORMED 8147 04:49:31,054 --> 04:49:34,124 DURING A PERIOD OF PRECONSORTIUM 8148 04:49:34,124 --> 04:49:38,162 STATUS IN WHICH THE EVALUATION 8149 04:49:38,162 --> 04:49:39,630 OF READINESS WAS PERFORMED 8150 04:49:39,630 --> 04:49:40,898 ACROSS MULTIPLE STAKEHOLDERS, SO 8151 04:49:40,898 --> 04:49:44,501 YOU WILL HAVE THE INDUSTRY 8152 04:49:44,501 --> 04:49:45,302 GENERATING DATA, THE ADVOCACY 8153 04:49:45,302 --> 04:49:46,703 GROUPS AND THE REGULATORY 8154 04:49:46,703 --> 04:49:49,006 AGENCIES UNDERSTANDING WHETHER 8155 04:49:49,006 --> 04:49:52,109 THERE WAS ENOUGH READINESS FOR 8156 04:49:52,109 --> 04:49:54,611 THAT LAUNCH OF A CONSORTIUM. 8157 04:49:54,611 --> 04:49:57,147 WE ARE FOCUSING ON TASK FORCES 8158 04:49:57,147 --> 04:49:58,148 NOW BECAUSE WE UNDERSTAND THAT 8159 04:49:58,148 --> 04:50:01,051 FOR THOSE AREAS, THE THEY ARE LS 8160 04:50:01,051 --> 04:50:02,920 READY TO HAVE A FORMALIZED 8161 04:50:02,920 --> 04:50:03,253 CONSORTIUM. 8162 04:50:03,253 --> 04:50:07,191 THERE ARE STILL SOME QUESTIONS 8163 04:50:07,191 --> 04:50:08,659 AND PROJECT FOCUSED OR PROJECT 8164 04:50:08,659 --> 04:50:10,494 SPECIFIC EFFORTS THAT COULD HELP 8165 04:50:10,494 --> 04:50:12,496 UNDERSTANDING OF TRIAL DESIGN IN 8166 04:50:12,496 --> 04:50:13,964 THE FUTURE, SO WE'RE TRYING TO 8167 04:50:13,964 --> 04:50:17,167 WORK WITH SOME OF THE COMMUNITY 8168 04:50:17,167 --> 04:50:23,640 IN THE NEURON NEW NEUROMUSCULARO 8169 04:50:23,640 --> 04:50:24,374 UNDERSTAND THE PROCESS IN THE 8170 04:50:24,374 --> 04:50:27,277 FORM OF A TASK FORCE THAT HAS A 8171 04:50:27,277 --> 04:50:27,911 SPECIFIC OBJECTIVE AND QUESTION 8172 04:50:27,911 --> 04:50:29,746 TO BE ADDRESSED. 8173 04:50:29,746 --> 04:50:32,115 AND THE COST IS REALLY -- THE 8174 04:50:32,115 --> 04:50:36,220 INDUSTRY MEMBERS HAVE A FEE AND 8175 04:50:36,220 --> 04:50:38,522 CONTRIBUTES TO THE CONSORTIUM 8176 04:50:38,522 --> 04:50:39,823 DEVELOPMENT, AND THIS IS A 8177 04:50:39,823 --> 04:50:40,891 PUBLIC PRIVATE PARTNERSHIP 8178 04:50:40,891 --> 04:50:43,627 BECAUSE WE HAVE INDUSTRY FEES, 8179 04:50:43,627 --> 04:50:50,501 WE HAVE FUNDING FROM THE FDA 8180 04:50:50,501 --> 04:50:51,268 COMING -- THE CRITICAL PATH 8181 04:50:51,268 --> 04:50:52,436 INSTITUTE AND THIS IS PRETTY 8182 04:50:52,436 --> 04:50:54,972 MUCH THE ORGANIZATIONAL 8183 04:50:54,972 --> 04:50:56,306 STRUCTURE WHERE -- IN THE CASE 8184 04:50:56,306 --> 04:50:59,476 OF PPMD, WE HAVE ALSO GREAT 8185 04:50:59,476 --> 04:51:01,111 SUPPORT FROM THE ORGANIZATION, 8186 04:51:01,111 --> 04:51:06,550 SO THIS IS MEANT TO BE A 8187 04:51:06,550 --> 04:51:07,184 MULTI-STAKEHOLDER EFFORT BECAUSE 8188 04:51:07,184 --> 04:51:10,854 IT REALLY COMES FROM EVERY 8189 04:51:10,854 --> 04:51:12,623 SOURCES AND COST AND SHARED 8190 04:51:12,623 --> 04:51:13,957 EFFORTS FROM ALL OF THESE 8191 04:51:13,957 --> 04:51:14,191 PARTIES. 8192 04:51:14,191 --> 04:51:18,896 >> THANK YOU. 8193 04:51:18,896 --> 04:51:19,863 >> OKAY. 8194 04:51:19,863 --> 04:51:21,732 JUST CHECKING THE OTHER PAGE FOR 8195 04:51:21,732 --> 04:51:22,132 HANDS. 8196 04:51:22,132 --> 04:51:23,133 I DON'T SEE THEM. 8197 04:51:23,133 --> 04:51:26,436 SO I'M GOING TO TURN IT OVER TO 8198 04:51:26,436 --> 04:51:27,971 GLEN NOW FOR A QUICK SUMMARY OF 8199 04:51:27,971 --> 04:51:38,382 THIS REGULATORY SESSION. 8200 04:51:42,653 --> 04:51:44,755 >> THANKS, DR. BIANCHI. 8201 04:51:44,755 --> 04:51:46,490 SO I WANTED TO TRY TO JUST KIND 8202 04:51:46,490 --> 04:51:49,326 OF WEAVE THESE TOPICS TOGETHER 8203 04:51:49,326 --> 04:51:50,093 AND PROVIDE -- THANKS. 8204 04:51:50,093 --> 04:51:53,764 I WANTED TO JUST TRY TO WEAVE 8205 04:51:53,764 --> 04:51:54,798 THESE TOPICS TOGETHER AND 8206 04:51:54,798 --> 04:51:56,066 PROVIDE KIND OF A BRIEF SUMMARY 8207 04:51:56,066 --> 04:51:59,703 OF THE SESSION. 8208 04:51:59,703 --> 04:52:01,638 SO WHAT WE'VE HEARD HERE IS 8209 04:52:01,638 --> 04:52:06,710 ABOUT THEMES RELATED TO DUCHENNE 8210 04:52:06,710 --> 04:52:08,478 AND REGULATORY APPROVAL, BUT I 8211 04:52:08,478 --> 04:52:12,416 THINK REALLY AT THE HEART OF 8212 04:52:12,416 --> 04:52:15,218 THIS AND THEME THAT'S VERY 8213 04:52:15,218 --> 04:52:18,689 COMMON TO MDCC MEETINGS IS THAT 8214 04:52:18,689 --> 04:52:19,523 PATIENT-CENTERED RESEARCH IS 8215 04:52:19,523 --> 04:52:21,992 WHAT WE'RE REALLY TRYING TO 8216 04:52:21,992 --> 04:52:23,660 FOCUS ON HERE, AND THROUGH 8217 04:52:23,660 --> 04:52:24,461 PATIENT-CENTERED RESEARCH, WE 8218 04:52:24,461 --> 04:52:27,931 CAN LEAD TO THINGS LIKE EARLY 8219 04:52:27,931 --> 04:52:28,865 SCREENING AND DIAGNOSIS THAT 8220 04:52:28,865 --> 04:52:31,768 NIKI WAS TELLING US ABOUT, AND 8221 04:52:31,768 --> 04:52:35,472 ALSO EFFECTIVE TREATMENTS, 8222 04:52:35,472 --> 04:52:36,640 CERTAINLY FIRST GENERATION 8223 04:52:36,640 --> 04:52:37,541 TREATMENTS THAT EVENTUALLY LEAD 8224 04:52:37,541 --> 04:52:41,044 TO HOPEFULLY FUTURE GENERATIONS 8225 04:52:41,044 --> 04:52:43,880 AND A CURE EVENTUALLY. 8226 04:52:43,880 --> 04:52:46,116 SO SCREENING AND DIAGNOSIS IS 8227 04:52:46,116 --> 04:52:49,786 ALSO A REALLY IMPORTANT ASPECT, 8228 04:52:49,786 --> 04:52:52,155 NAD TO HAVING KIND OF THE DIRECT 8229 04:52:52,155 --> 04:52:57,294 BENEFIT FROM PATIENTS AND MAY BE 8230 04:52:57,294 --> 04:53:04,968 NEATBNECESSARY DETERMINING WHEN 8231 04:53:04,968 --> 04:53:06,570 THEY'RE ELIGIBLE FOR APPROVED 8232 04:53:06,570 --> 04:53:06,870 DRUGS. 8233 04:53:06,870 --> 04:53:08,639 YOU ALSO NEED A COHORT OF 8234 04:53:08,639 --> 04:53:10,007 GENETICALLY WELL CHARACTERIZED 8235 04:53:10,007 --> 04:53:11,575 PATIENTS IN ORDER TO PARTICIPATE 8236 04:53:11,575 --> 04:53:12,542 IN CLINICAL TRIALS SO THAT CAN 8237 04:53:12,542 --> 04:53:14,244 ALSO BE FACILITATED BY NEWBORN 8238 04:53:14,244 --> 04:53:15,612 SCREENING AND EARLY DIAGNOSIS, 8239 04:53:15,612 --> 04:53:16,747 AND THERE'S CERTAINLY A PUSH FOR 8240 04:53:16,747 --> 04:53:20,350 TRYING TO GET EARLIER AND 8241 04:53:20,350 --> 04:53:22,185 EARLIER INTERVENTION WHERE 8242 04:53:22,185 --> 04:53:24,488 PATIENTS MAY BE MOST RESPONSIVE 8243 04:53:24,488 --> 04:53:25,989 TO TREATMENTS. 8244 04:53:25,989 --> 04:53:29,292 SO BEFORE YOU GET TO THIS POINT, 8245 04:53:29,292 --> 04:53:30,794 DECADES EARLIER, IT REALLY COMES 8246 04:53:30,794 --> 04:53:32,095 DOWN TO THINGS LIKE NATURAL 8247 04:53:32,095 --> 04:53:34,598 HISTORY STUDIES, AND VALIDATED 8248 04:53:34,598 --> 04:53:38,568 OUT COME MEASURES AND BIOMARKERS 8249 04:53:38,568 --> 04:53:42,706 THAT MUST BE INVESTED IN AND 8250 04:53:42,706 --> 04:53:44,641 DEVELOPED THROUGH THE RESEARCH 8251 04:53:44,641 --> 04:53:44,908 COMMUNITY. 8252 04:53:44,908 --> 04:53:45,876 BILL WAS TELLING US A REALLY 8253 04:53:45,876 --> 04:53:47,678 EXCELLENT EXAMPLE OF TAKING THE 8254 04:53:47,678 --> 04:53:50,781 NATURAL HISTORY DATA FROM MRI 8255 04:53:50,781 --> 04:53:53,116 AND FUNCTIONAL OUT COME MEASURES 8256 04:53:53,116 --> 04:53:55,152 TO BUILD THE CLINICAL TRIAL 8257 04:53:55,152 --> 04:53:55,719 SIMULATION TOOL. 8258 04:53:55,719 --> 04:53:58,622 AND SO THAT REALLY CONTRIBUTES 8259 04:53:58,622 --> 04:54:00,857 TO OPTIMIZING TRIAL DESIGN. 8260 04:54:00,857 --> 04:54:04,361 CERTAINLY YOU ALSO NEED 8261 04:54:04,361 --> 04:54:06,363 INNOVATIVE CANDIDATE 8262 04:54:06,363 --> 04:54:07,431 THERAPEUTICS, THAT'S CERTAINLY A 8263 04:54:07,431 --> 04:54:10,667 LOT OF WHAT WE DO AT NIH, IS 8264 04:54:10,667 --> 04:54:15,472 SUPPORTING EARLY DISCOVERY, 8265 04:54:15,472 --> 04:54:16,873 PRE-CLINICAL TRANSLATION, 8266 04:54:16,873 --> 04:54:18,241 HOPEFULLY EVENTUALLY GETTING TO 8267 04:54:18,241 --> 04:54:19,209 CANDIDATE THERAPEUTICS THAT CAN 8268 04:54:19,209 --> 04:54:20,711 GO INTO CLINICAL TRIALS. 8269 04:54:20,711 --> 04:54:21,545 YOU KNOW, I THINK A REALLY 8270 04:54:21,545 --> 04:54:24,114 IMPORTANT ASPECT OF THE OPTIMIZE 8271 04:54:24,114 --> 04:54:26,116 TRIAL DESIGN THAT FEEDS BACK 8272 04:54:26,116 --> 04:54:27,884 INTO THIS PATIENT-CENTERED 8273 04:54:27,884 --> 04:54:30,053 RESEARCH CONCEPT IS THAT WITH 8274 04:54:30,053 --> 04:54:34,157 REALLY EFFECTIVE CLINICAL TRIAL 8275 04:54:34,157 --> 04:54:36,727 DESIGNS, THEN WE CAN INCREASE 8276 04:54:36,727 --> 04:54:38,962 THE LIKELIHOOD OF SUCCESS OF 8277 04:54:38,962 --> 04:54:40,030 CLINICAL TRIALS AND IMPORTANTLY 8278 04:54:40,030 --> 04:54:42,899 WE COULD ALSO PERHAPS REDUCE THE 8279 04:54:42,899 --> 04:54:44,935 BURDEN OF PARTICIPATION IN 8280 04:54:44,935 --> 04:54:47,104 TRIALS FOR PATIENT. 8281 04:54:47,104 --> 04:54:49,906 BY THINGS LIKE REDUCING THE 8282 04:54:49,906 --> 04:54:51,541 DURATION OF THE TRIAL, OR 8283 04:54:51,541 --> 04:54:54,044 PERHAPS DECREASE THE NUMBER OF 8284 04:54:54,044 --> 04:54:54,878 PATIENTS OR THE PROPORTION OF 8285 04:54:54,878 --> 04:54:58,115 PATIENTS THAT NEED TO BE IN A 8286 04:54:58,115 --> 04:54:59,382 CONTROL GROUP. 8287 04:54:59,382 --> 04:55:01,952 SO IN THIS DIAGRAM THAT I'VE 8288 04:55:01,952 --> 04:55:02,652 BEEN PUTTING TOGETHER HERE, 8289 04:55:02,652 --> 04:55:07,991 REALLY THE ARROWS, MANY OF THEM 8290 04:55:07,991 --> 04:55:09,926 REPRESENT REGULATORY ASPECTS, 8291 04:55:09,926 --> 04:55:11,695 EITHER REGULATORY FROM A FEDERAL 8292 04:55:11,695 --> 04:55:13,063 GOVERNMENT STANDPOINT OR STATE 8293 04:55:13,063 --> 04:55:15,365 GOVERNMENTS, AND WHAT RAMONA HAD 8294 04:55:15,365 --> 04:55:19,636 TOLD US ABOUT IS WHAT IS 8295 04:55:19,636 --> 04:55:22,139 NECESSARY AND REALLY FACILITATES 8296 04:55:22,139 --> 04:55:23,840 ALL OF THIS WORKING TOGETHER IS 8297 04:55:23,840 --> 04:55:26,243 PEOPLE COLLABORATING, HAVING 8298 04:55:26,243 --> 04:55:27,811 DATA STANDARDS, AND HAVING A 8299 04:55:27,811 --> 04:55:30,647 SHARING OF DATA AND AN ABILITY 8300 04:55:30,647 --> 04:55:33,483 TO REALLY MINE THAT DATA TO 8301 04:55:33,483 --> 04:55:34,484 ADVANCE IT. 8302 04:55:34,484 --> 04:55:38,588 SO WHAT WE'VE HEARD HERE IS 8303 04:55:38,588 --> 04:55:39,589 EXAMPLES FROM THE DUCHENNE 8304 04:55:39,589 --> 04:55:42,425 FIELD, BUT THESE THEMES REALLY 8305 04:55:42,425 --> 04:55:43,660 RESONATE, I THINK, WITH ALL THE 8306 04:55:43,660 --> 04:55:45,929 FORMS OF DYSTROPHY, AND EVEN 8307 04:55:45,929 --> 04:55:48,698 OTHER RARE DISEASES AND DISEASES 8308 04:55:48,698 --> 04:55:50,901 BEYOND THE MISSION OF OUR 8309 04:55:50,901 --> 04:55:51,368 COMMITTEE. 8310 04:55:51,368 --> 04:55:55,105 SO I THINK -- I HOPE WE'VE TRIED 8311 04:55:55,105 --> 04:55:56,907 TO ACCOMPLISH THE GOAL OF THIS 8312 04:55:56,907 --> 04:55:59,142 SESSION BY NOT ONLY HIGHLIGHTING 8313 04:55:59,142 --> 04:56:01,778 THESE ADVANCES IN DUCHENNE, BUT 8314 04:56:01,778 --> 04:56:04,080 ALSO TO MAKE EACH OF US THINK 8315 04:56:04,080 --> 04:56:07,217 ABOUT HOW CAN WE USE THESE 8316 04:56:07,217 --> 04:56:09,719 PATHWAYS THAT HAVE BEEN 8317 04:56:09,719 --> 04:56:10,754 DEMONSTRATED SUCCESSFUL IN 8318 04:56:10,754 --> 04:56:13,190 DUCHENNE, HOW CAN WE APPLY THEM 8319 04:56:13,190 --> 04:56:15,392 TO FSHD, LIMB-GIRDLE, OR OTHER 8320 04:56:15,392 --> 04:56:17,994 FORMS OF MUSCULAR DYSTROPHY. 8321 04:56:17,994 --> 04:56:19,462 AND I'LL LEAVE IT THERE, YOU 8322 04:56:19,462 --> 04:56:21,498 KNOW, I THINK OPEN THIS SESSION 8323 04:56:21,498 --> 04:56:23,200 UP FOR EITHER ADDITIONAL 8324 04:56:23,200 --> 04:56:26,770 QUESTIONS FOR THE PRESENTERS OR 8325 04:56:26,770 --> 04:56:37,080 OVERALL COMMENTS. 8326 04:56:42,485 --> 04:56:43,987 >> I'M NOT SEEING ANY QUESTIONS. 8327 04:56:43,987 --> 04:56:46,890 I HAVE A FEELING THAT PEOPLE MAY 8328 04:56:46,890 --> 04:56:48,325 WANT JUST A LITTLE BREAK RIGHT 8329 04:56:48,325 --> 04:56:48,558 NOW. 8330 04:56:48,558 --> 04:56:50,694 JUST TO REFRESH THEMSELVES FOR 8331 04:56:50,694 --> 04:56:55,332 THE LAST PART OF THE SESSION. 8332 04:56:55,332 --> 04:56:58,335 SO WE ARE RUNNING ABOUT 8333 04:56:58,335 --> 04:57:00,737 6 MINUTES BEHIND. 8334 04:57:00,737 --> 04:57:03,740 WE PICKED UP SOME TIME. 8335 04:57:03,740 --> 04:57:08,511 SO SHALL WE HAVE EVERYBODY COME 8336 04:57:08,511 --> 04:57:12,716 BACK AT 2:51, SO 10 MINUTES FROM 8337 04:57:12,716 --> 04:57:16,353 NOW? 8338 04:57:16,353 --> 04:57:16,720 THAT'S GOOD. 8339 04:57:16,720 --> 04:57:18,388 OKAY. MINI BREAK. 8340 04:57:18,388 --> 04:57:28,598 8341 04:57:32,486 --> 04:57:33,620 THE CONGRESSIONALLY DIRECTED 8342 04:57:33,620 --> 04:57:34,988 MEDICAL RESEARCH PROGRAM ON 8343 04:57:34,988 --> 04:57:37,024 THEIR STRATEGIC PLANS, AND THEIR 8344 04:57:37,024 --> 04:57:39,326 LONG TERM GOALS. 8345 04:57:39,326 --> 04:57:42,429 WE ALSO DISCUSSED THE RENEWAL OF 8346 04:57:42,429 --> 04:57:44,064 THE MDCC ACTION PLAN FOR THE 8347 04:57:44,064 --> 04:57:47,367 MUSCULAR DYSTROPHIES. 8348 04:57:47,367 --> 04:57:48,535 WE WOULD NOW LIKE TO LEVERAGE 8349 04:57:48,535 --> 04:57:50,103 THE EFFORTS OF STRATEGIC 8350 04:57:50,103 --> 04:57:52,306 PLANNING BY OUR MEMBER 8351 04:57:52,306 --> 04:57:55,476 ORGANIZATIONS AND OTHER PATIENT 8352 04:57:55,476 --> 04:57:56,577 GROUPS TO INCORPORATE OR LINK 8353 04:57:56,577 --> 04:57:58,479 THEIR PLANS TO THE RENEWED 8354 04:57:58,479 --> 04:58:00,681 ACTION PLAN. 8355 04:58:00,681 --> 04:58:01,682 TODAY, WE'LL CONTINUE THE 8356 04:58:01,682 --> 04:58:03,750 SESSION FROM OUR PREVIOUS 8357 04:58:03,750 --> 04:58:05,719 MEETING WITH SOME PRESENTATIONS 8358 04:58:05,719 --> 04:58:08,088 FROM THE MUSCULAR DYSTROPHY 8359 04:58:08,088 --> 04:58:09,756 ASSOCIATION, AND THE PARENT 8360 04:58:09,756 --> 04:58:11,391 PROJECT MUSCULAR DYSTROPHY. 8361 04:58:11,391 --> 04:58:12,860 OUR FIRST PRESENTER IN THE 8362 04:58:12,860 --> 04:58:16,897 SESSION IS DR. ANGELA LEK, THE 8363 04:58:16,897 --> 04:58:17,798 VICE PRESIDENT FOR RESEARCH WITH 8364 04:58:17,798 --> 04:58:20,701 THE MDA. 8365 04:58:20,701 --> 04:58:31,512 ANG THAT, ANGELA, OVER TO YOU. 8366 04:58:34,047 --> 04:58:34,748 >> HI. 8367 04:58:34,748 --> 04:58:35,182 SORRY. 8368 04:58:35,182 --> 04:58:36,383 LET ME JUST GET THIS UP AND 8369 04:58:36,383 --> 04:58:38,151 RUNNING. 8370 04:58:38,151 --> 04:58:40,654 SCREEN 2. 8371 04:58:40,654 --> 04:58:41,388 YOU CAN SEE THAT? 8372 04:58:41,388 --> 04:58:42,990 >> WE JUST NEED IT IN 8373 04:58:42,990 --> 04:58:43,524 PRESENTATION MODE. 8374 04:58:43,524 --> 04:58:46,994 >> YES. 8375 04:58:46,994 --> 04:58:48,128 DOES THAT WORK? 8376 04:58:48,128 --> 04:58:48,529 >> PERFECT. 8377 04:58:48,529 --> 04:58:48,962 >> GREAT. 8378 04:58:48,962 --> 04:58:49,329 ALL RIGHT. 8379 04:58:49,329 --> 04:58:51,732 THANK YOU FOR INVITING ME HERE 8380 04:58:51,732 --> 04:58:53,600 TODAY AND ALLOWING ME TO FILL IN 8381 04:58:53,600 --> 04:58:57,204 ON BEHALF OF SHARON HESTERLEE. 8382 04:58:57,204 --> 04:58:59,373 HIGH NAME IS ANGELA LEK, I'M THE 8383 04:58:59,373 --> 04:59:00,908 VICE PRESIDENT THE RESEARCH AT 8384 04:59:00,908 --> 04:59:05,245 MDA. 8385 04:59:05,245 --> 04:59:09,349 SO MDA IS AN UMBRELLA 8386 04:59:09,349 --> 04:59:10,918 ORGANIZATION COVERING OVER 300 8387 04:59:10,918 --> 04:59:12,452 MUSCULAR DISEASES IN OUR 8388 04:59:12,452 --> 04:59:12,719 PORTFOLIO. 8389 04:59:12,719 --> 04:59:15,589 OUR OVERALL MISSION IS TO ENSURE 8390 04:59:15,589 --> 04:59:17,925 THAT PATIENTS -- THE PATIENTS 8391 04:59:17,925 --> 04:59:20,794 WHO WE SERVE LIVE LONGER AND 8392 04:59:20,794 --> 04:59:21,461 MORE INDEPENDENT LIVES. 8393 04:59:21,461 --> 04:59:25,065 SO WE STRIVE TO ACHIEVE THIS BY 8394 04:59:25,065 --> 04:59:28,702 FOUR PILLARS. 8395 04:59:28,702 --> 04:59:34,374 OOUR CARE CENTER NETWORK, 8396 04:59:34,374 --> 04:59:36,043 ADVOCATING FOR THE NEEDS AS WELL 8397 04:59:36,043 --> 04:59:39,079 AS PROVIDING COMMUNITY 8398 04:59:39,079 --> 04:59:41,982 EDUCATION, AND IN ADDITION OF 8399 04:59:41,982 --> 04:59:43,350 OUR ACTIVITIES AND EVENTS 8400 04:59:43,350 --> 04:59:45,452 THROUGH OUR NETWORK OF 8401 04:59:45,452 --> 04:59:50,390 VOLUNTEERS, AND PROVIDE A WEALTH 8402 04:59:50,390 --> 04:59:52,392 OF RESOURCES TO SUPPORT 8403 04:59:52,392 --> 04:59:53,961 EDUCATION AND ADAPTIVE LIFESTYLE 8404 04:59:53,961 --> 04:59:56,029 CHOICES WITH A VARIETY OF OUR 8405 04:59:56,029 --> 04:59:58,599 MULTIMEDIA PLATFORMS BELOW HERE. 8406 04:59:58,599 --> 05:00:00,467 SO TODAY I'LL BE TOUCHING ON 8407 05:00:00,467 --> 05:00:01,802 MDA'S STRATEGIC INITIATIVES FOR 8408 05:00:01,802 --> 05:00:03,604 RESEARCH. 8409 05:00:03,604 --> 05:00:05,505 HEALTH, QUALITY OF LIFE AND 8410 05:00:05,505 --> 05:00:06,373 HEALTHCARE SERVICES, AS WELL AS 8411 05:00:06,373 --> 05:00:11,545 ADVOCACY. 8412 05:00:11,545 --> 05:00:16,516 SO WE BEGIN WITH RESEARCH. 8413 05:00:16,516 --> 05:00:19,453 WE'VE BEEN THE BIGGEST FUNDER OF 8414 05:00:19,453 --> 05:00:20,420 NEUROMUSCULAR DISEASE RESEARCH. 8415 05:00:20,420 --> 05:00:22,255 WE OFFER GRANTS TO CATER TO 8416 05:00:22,255 --> 05:00:25,959 DIFFERENT STAGES OF DRUG DEVELOP 8417 05:00:25,959 --> 05:00:26,994 DEVELOPMENT AS YOU CAN SEE ON 8418 05:00:26,994 --> 05:00:28,128 THE LEFT. 8419 05:00:28,128 --> 05:00:30,564 TO BOTH ACADEMIA AND EARLY STAGE 8420 05:00:30,564 --> 05:00:30,831 COMPANIES. 8421 05:00:30,831 --> 05:00:32,032 OUR ACTIVE GRANT PORTFOLIO 8422 05:00:32,032 --> 05:00:33,333 CHANGES A LOT FROM YEAR TO YEAR, 8423 05:00:33,333 --> 05:00:35,736 AND IS LARGELY DICTATED BY THE 8424 05:00:35,736 --> 05:00:36,770 INPUT OF OUR GRANT REVIEW 8425 05:00:36,770 --> 05:00:37,204 COMMITTEE. 8426 05:00:37,204 --> 05:00:38,972 BUT AS YOU CAN SEE, WE CURRENTLY 8427 05:00:38,972 --> 05:00:41,642 HAVE MANY ACTIVE GRANTS IN THE 8428 05:00:41,642 --> 05:00:43,043 MUSCULAR DYSTROPHIES COVERING 8429 05:00:43,043 --> 05:00:46,046 DMD, BMD, LIMB-GIRDLE, MYOTONIC, 8430 05:00:46,046 --> 05:00:47,581 FSHD, CMDs. 8431 05:00:47,581 --> 05:00:49,049 WE MAKE AWARDS OF DIFFERENT 8432 05:00:49,049 --> 05:00:49,816 SIZES. 8433 05:00:49,816 --> 05:00:51,351 AN EXAMPLE OF A BIG AWARD IS ONE 8434 05:00:51,351 --> 05:00:55,222 THAT SUPPORTS SHARED RESOURCES 8435 05:00:55,222 --> 05:00:56,456 AND INFRASTRUCTURE FOR A 8436 05:00:56,456 --> 05:00:58,892 CLINICAL TRIAL NETWORK OF 8437 05:00:58,892 --> 05:01:00,961 MUSCULAR DYSTROPHY SITES HEADED 8438 05:01:00,961 --> 05:01:02,729 BY JOE STATLIN. 8439 05:01:02,729 --> 05:01:05,399 AN EXAMPLE OF A STANDARD 8440 05:01:05,399 --> 05:01:10,737 SCREENING RESEARCH -- -- 8441 05:01:10,737 --> 05:01:12,272 RESEARCH PROJECT IS TO LOOK AT 8442 05:01:12,272 --> 05:01:13,740 MOBILIZING MUSCLE STEM CELLS FOR 8443 05:01:13,740 --> 05:01:18,245 DMD HEADED BY MICHAEL RUDNICKI. 8444 05:01:18,245 --> 05:01:20,247 SO INTEREST IN PRE-CLINICAL 8445 05:01:20,247 --> 05:01:21,415 RESEARCH IS NOT LIMITED TO 8446 05:01:21,415 --> 05:01:23,450 TRANSLATIONAL PROJECTS BUT WE 8447 05:01:23,450 --> 05:01:28,188 ALSO SEEK TO ANSWER BASIC 8448 05:01:28,188 --> 05:01:30,190 SCIENCE QUESTIONS ABOUT DISEASE 8449 05:01:30,190 --> 05:01:32,459 MECHANISM. 8450 05:01:32,459 --> 05:01:37,631 RECENTLY WE'VE ALSO LAUNCHED THE 8451 05:01:37,631 --> 05:01:38,932 KICK START PROJECT PROGRAM WHICH 8452 05:01:38,932 --> 05:01:41,735 IS OUR IN-HOUSE DRUG DEVELOPMENT 8453 05:01:41,735 --> 05:01:45,472 PROGRAM FOR ULTRA-RARE DISEASES 8454 05:01:45,472 --> 05:01:46,506 AMENABLE TO GENE REPLACEMENT 8455 05:01:46,506 --> 05:01:46,840 THERAPY. 8456 05:01:46,840 --> 05:01:49,076 SO WE FEEL THERE IS A ROLE FOR 8457 05:01:49,076 --> 05:01:49,943 NON-PROFITS TO KICK START AND 8458 05:01:49,943 --> 05:01:51,244 DE-RISK DRUG DEVELOPMENT FOR 8459 05:01:51,244 --> 05:01:53,814 DISEASES THAT HAVE A HIGH 8460 05:01:53,814 --> 05:01:56,049 BARRIER FOR COMMERCIALIZABILITY. 8461 05:01:56,049 --> 05:02:00,287 SO THE PILOT PROJECT, WE HAVE 8462 05:02:00,287 --> 05:02:04,324 SELECTED A CO CONGENITAL -- 8463 05:02:04,324 --> 05:02:05,325 SYNDROME. 8464 05:02:05,325 --> 05:02:07,661 LESS THAN 300 PEOPLE IN THE 8465 05:02:07,661 --> 05:02:09,029 U.S., WHO SUFFER FATAL EPISODES 8466 05:02:09,029 --> 05:02:13,767 OF APNEA DUE TO MUTATIONS IN THE 8467 05:02:13,767 --> 05:02:14,034 CHAT GENE. 8468 05:02:14,034 --> 05:02:15,769 WE WORK CLOSELY WITH AN ACADEMIC 8469 05:02:15,769 --> 05:02:24,111 P.I. AT UC DAVIS, RICARDO MA 8470 05:02:24,111 --> 05:02:24,611 MASELLI. 8471 05:02:24,611 --> 05:02:27,614 WE CAN DEVELOP A BLUEPRINT FOR 8472 05:02:27,614 --> 05:02:29,683 HOW NON-PROFITS CAN PLAY AN 8473 05:02:29,683 --> 05:02:31,151 ACTIVE ROLE AND HELP DE-RISK THE 8474 05:02:31,151 --> 05:02:35,322 EARLY STAGES OF DRUG DEVELOP M. 8475 05:02:35,322 --> 05:02:36,423 SO FOR THIS PROGRAM, WE HAVE 8476 05:02:36,423 --> 05:02:40,927 ASSEMBLED AN ADVISORY COMMITTEE 8477 05:02:40,927 --> 05:02:41,928 COMPOSED OF KEY LEADERS FROM 8478 05:02:41,928 --> 05:02:45,365 INDUSTRY AND ACADEMIA WHO HAVE 8479 05:02:45,365 --> 05:02:46,833 HELPED SELECT OUR FIRST 8480 05:02:46,833 --> 05:02:47,734 INDICATION TO FOCUS ON. 8481 05:02:47,734 --> 05:02:49,803 WE HAVE A CORE PROJECT TEAM WHO 8482 05:02:49,803 --> 05:02:51,471 MEET WEEKLY AND CONSULTANTS WITH 8483 05:02:51,471 --> 05:02:54,741 SPECIFIC EXPERTISE AND WE HAVE A 8484 05:02:54,741 --> 05:02:57,711 LIST OF ACTIVITIES THAT OUR KICK 8485 05:02:57,711 --> 05:02:59,846 START PROGRAM COVERS AND WHAT WE 8486 05:02:59,846 --> 05:03:01,848 DEEM ESSENTIAL FOR ADVANCING 8487 05:03:01,848 --> 05:03:03,283 GENE THERAPY INDICATIONS THROUGH 8488 05:03:03,283 --> 05:03:04,985 THE DRUG DEVELOPMENT PIPELINE. 8489 05:03:04,985 --> 05:03:06,219 OUR INTENTION IS TO SET UP OUR 8490 05:03:06,219 --> 05:03:09,422 KICK START PROJECTS FOR SUCK 8491 05:03:09,422 --> 05:03:11,591 SUCCESSFUL FOLLOW-ON FUNDING 8492 05:03:11,591 --> 05:03:12,659 FROM LARGER SOURCES WHO CAN HELP 8493 05:03:12,659 --> 05:03:19,099 THEM CARRY OUT ID ENABLING 8494 05:03:19,099 --> 05:03:21,501 STUDIES INTO PHASE ONE CLINICAL 8495 05:03:21,501 --> 05:03:21,735 TRIALS. 8496 05:03:21,735 --> 05:03:23,403 SO ANOTHER ONE OF OUR STRATEGIC 8497 05:03:23,403 --> 05:03:25,205 GOALS IN RESEARCH IS TO ADDRESS 8498 05:03:25,205 --> 05:03:27,674 THE LACK OF DIVERSITY IN THE 8499 05:03:27,674 --> 05:03:29,376 INVESTIGATORS THAT WE FUND. 8500 05:03:29,376 --> 05:03:32,379 SO AFTER SURVEYING THE 8501 05:03:32,379 --> 05:03:34,347 ECOSYSTEM, WE DISCOVERED THAT 8502 05:03:34,347 --> 05:03:35,849 THE BEST STAGE FOR US TO 8503 05:03:35,849 --> 05:03:37,317 ALLOCATE INVESTMENT IS IN THE 8504 05:03:37,317 --> 05:03:37,951 UNDERGRADUATE LEVEL BEFORE WE 8505 05:03:37,951 --> 05:03:41,121 BEGIN TO SEE A DROPOFF IN 8506 05:03:41,121 --> 05:03:43,623 DIVERSITY AND REPRESENTATION OF 8507 05:03:43,623 --> 05:03:47,828 CANDIDATES WHO SEEK TO PURSUE 8508 05:03:47,828 --> 05:03:49,196 FURTHER RESEARCH IN 8509 05:03:49,196 --> 05:03:50,664 NEUROMUSCULAR DISEASES. 8510 05:03:50,664 --> 05:03:54,734 SO DIVERSITY HERE, WHEN WE TALK 8511 05:03:54,734 --> 05:03:56,536 ABOUT LACK OF DIVERSITY IS USING 8512 05:03:56,536 --> 05:03:58,405 THE NIH DEFINITION OF 8513 05:03:58,405 --> 05:03:59,005 UNDERREPRESENTED RACIAL AND 8514 05:03:59,005 --> 05:04:01,708 ETHNIC GROUPS, AS WELL AS 8515 05:04:01,708 --> 05:04:02,342 INDIVIDUALS WITH DISABILITY AND 8516 05:04:02,342 --> 05:04:03,510 FROM OTHER DISADVANTAGED 8517 05:04:03,510 --> 05:04:06,213 BACKGROUNDS. 8518 05:04:06,213 --> 05:04:10,617 SO THIS YEAR WE PILOTED A SUMMER 8519 05:04:10,617 --> 05:04:11,484 UNDERGRADUATE RESEARCH PROGRAM 8520 05:04:11,484 --> 05:04:13,353 SUPPORTING FOUR STUDENTS TO 8521 05:04:13,353 --> 05:04:15,655 PURSUE A RESEARCH INTERNSHIP AT 8522 05:04:15,655 --> 05:04:17,090 FOUR VOLUNTEER SITES WITH 8523 05:04:17,090 --> 05:04:18,925 ASSIGNED MENTORS. 8524 05:04:18,925 --> 05:04:20,961 THESE STUDENTS, WE HAVE ALSO 8525 05:04:20,961 --> 05:04:22,495 FUNDED FOR THEM TO ATTEND THE 8526 05:04:22,495 --> 05:04:25,398 ANNUAL CONFERENCE TO PRESENT 8527 05:04:25,398 --> 05:04:26,533 POSTERS OF THEIR SUMMER PROJECTS 8528 05:04:26,533 --> 05:04:28,068 AND THEY WILL ATTEND A CAREER 8529 05:04:28,068 --> 05:04:29,402 DEVELOPMENT AND MENTORING 8530 05:04:29,402 --> 05:04:31,271 WORKSHOP THAT WILL REMAIN 8531 05:04:31,271 --> 05:04:33,607 INVOLVED WITH THE PROGRAM NEXT 8532 05:04:33,607 --> 05:04:36,409 YEAR, ALSO THROUGH ME MENTORSHIF 8533 05:04:36,409 --> 05:04:37,878 THEIR NEXT COHORT. 8534 05:04:37,878 --> 05:04:40,046 SO FAR SURVEYS FROM THE STUDENTS 8535 05:04:40,046 --> 05:04:42,015 AND THEIR MENTORS ALL POINT TO 8536 05:04:42,015 --> 05:04:43,416 KEY SUCCESSFUL METRIC OF THIS 8537 05:04:43,416 --> 05:04:44,885 PROGRAM, WHICH IS TO BROADEN 8538 05:04:44,885 --> 05:04:47,120 THEIR RESEARCH EXPERIENCE AND 8539 05:04:47,120 --> 05:04:48,788 INTEREST IN NEUROMUSCULAR 8540 05:04:48,788 --> 05:04:52,626 DISEASES. 8541 05:04:52,626 --> 05:04:57,163 SO ANOTHER BIG RESEARCH PRIORITY 8542 05:04:57,163 --> 05:04:59,866 IN MDA IS THAT WE CONTINUE TO 8543 05:04:59,866 --> 05:05:04,571 GROW AND EXPAND OUR MOVR 8544 05:05:04,571 --> 05:05:06,539 DATABASE, PATIENT REGISTRY. 8545 05:05:06,539 --> 05:05:10,076 FOR THOSE WHO ARE UNAWARE, MOVR 8546 05:05:10,076 --> 05:05:14,547 COLLECTS LONGITUDINAL CLINICAL 8547 05:05:14,547 --> 05:05:19,319 CENTER DATA FOR ALS, BMD, DMD, 8548 05:05:19,319 --> 05:05:22,055 FSHD, LGMD, POMPE AND SMA. 8549 05:05:22,055 --> 05:05:23,056 WE HAVE PLANS TO GROW THIS 8550 05:05:23,056 --> 05:05:24,357 NUMBER AND ADD MORE SITES BUT SO 8551 05:05:24,357 --> 05:05:27,560 FAR WE HAVE ENROLLED CLOSE TO 8552 05:05:27,560 --> 05:05:28,662 5,000 PATIENTS AND COLLECT DATA 8553 05:05:28,662 --> 05:05:30,030 AT EACH ONE OF THEIR CLINIC 8554 05:05:30,030 --> 05:05:32,332 VISITS IN AN OBSERVATIONAL STUDY 8555 05:05:32,332 --> 05:05:34,134 TO MONITOR THEIR DISEASE 8556 05:05:34,134 --> 05:05:36,937 PROGRESSION AND DISEASE -- 8557 05:05:36,937 --> 05:05:39,406 ANSWER DISEASE-SPECIFIC 8558 05:05:39,406 --> 05:05:39,673 QUESTIONS. 8559 05:05:39,673 --> 05:05:42,142 DON'T ANSWER, I MEAN COLLECT. 8560 05:05:42,142 --> 05:05:44,844 AS WELL AS SERVE AS AN EXAMPLE 8561 05:05:44,844 --> 05:05:45,779 AS WHAT MEDICATION THEY'RE 8562 05:05:45,779 --> 05:05:47,280 TAKING OR WHAT ASSISTIVE DEVICE 8563 05:05:47,280 --> 05:05:50,550 THEY MAY BE USING. 8564 05:05:50,550 --> 05:05:52,185 AND WE'D LIKE TO ENCOURAGE IN 8565 05:05:52,185 --> 05:05:53,286 THE COMING YEARS MORE ACADEMICS 8566 05:05:53,286 --> 05:05:55,155 TO MAKE USE OF THE DATA WE HAVE 8567 05:05:55,155 --> 05:05:58,091 COLLECTED TO ANSWER THEIR 8568 05:05:58,091 --> 05:06:00,493 SPECIFIC RESEARCH QUESTIONS. 8569 05:06:00,493 --> 05:06:01,828 AND ALSO TO ENGAGE WITH MORE 8570 05:06:01,828 --> 05:06:03,396 COMPANIES IN THE SPACE WHO CAN 8571 05:06:03,396 --> 05:06:06,333 APPLY TO USE OUR MOVR DATA TO 8572 05:06:06,333 --> 05:06:07,600 HELP WITH CLINICAL TRIAL DESIGN 8573 05:06:07,600 --> 05:06:11,171 AND MATCHING. 8574 05:06:11,171 --> 05:06:14,040 SO WE HAVE EXPANDED OUR MOVR 8575 05:06:14,040 --> 05:06:15,475 PLATFORM TO PROMOTE REMOTE DATA 8576 05:06:15,475 --> 05:06:19,946 COLLECTION, WHICH CAN BE THEN 8577 05:06:19,946 --> 05:06:23,817 PREFERABLY MAPPED BACK WITH EACH 8578 05:06:23,817 --> 05:06:27,020 AS THEY MOVE ALONG THE -- WE ARE 8579 05:06:27,020 --> 05:06:28,722 PILOTING THIS FOR ALS IN 8580 05:06:28,722 --> 05:06:31,658 PARTNERSHIP WITH MT FARMER IN A 8581 05:06:31,658 --> 05:06:33,693 DECENTRALIZED STUDY DESIGN WHICH 8582 05:06:33,693 --> 05:06:35,261 INCLUDES COLLECTING MONTHLY 8583 05:06:35,261 --> 05:06:38,465 SURVEYS AND MAPPING FINE MOTOR 8584 05:06:38,465 --> 05:06:39,833 ASSESSMENTS AND HAND DEXTERITY 8585 05:06:39,833 --> 05:06:41,935 USING A TABLET, AS WELL AS USING 8586 05:06:41,935 --> 05:06:44,738 A FITBIT TO MONITOR DAILY 8587 05:06:44,738 --> 05:06:47,474 ACTIVITY AND SLEEP. 8588 05:06:47,474 --> 05:06:48,875 SO ONE OF THE FIRST ASSESSMENTS 8589 05:06:48,875 --> 05:06:51,311 WE WILL BE MONITORING -- WE'RE 8590 05:06:51,311 --> 05:06:52,645 PERFORMING IS TO SEE WHETHER 8591 05:06:52,645 --> 05:06:55,115 THESE ACTIVITY MONITORS 8592 05:06:55,115 --> 05:06:56,516 CORRELATE WITH DISEASE 8593 05:06:56,516 --> 05:06:58,284 FUNCTIONAL OUTCOMES DETERMINED 8594 05:06:58,284 --> 05:07:01,488 IN THE CLINIC SETTING, SUCH AS 8595 05:07:01,488 --> 05:07:03,857 THE ALS FRS SCORE, AND IF SO, IT 8596 05:07:03,857 --> 05:07:07,327 MEANS THAT THE DATA COLLECTION 8597 05:07:07,327 --> 05:07:08,495 PROCESS IN MOVR DOES NOT HAVE TO 8598 05:07:08,495 --> 05:07:09,896 BE LIMITED TO THE CLINICAL 8599 05:07:09,896 --> 05:07:12,565 SETTING AND THAT CONTI CONTINUOA 8600 05:07:12,565 --> 05:07:13,566 COLLECTION MONITORING IN A REAL 8601 05:07:13,566 --> 05:07:15,301 WORLD SETTING IS, IN FACT, 8602 05:07:15,301 --> 05:07:17,437 POSSIBLE, SO WE'VE PICKED ALS AS 8603 05:07:17,437 --> 05:07:18,471 OUR FIRST INDICATION, BUT 8604 05:07:18,471 --> 05:07:19,873 HOPEFULLY WE CAN EXPAND THIS TO 8605 05:07:19,873 --> 05:07:26,312 OTHER MUSCULAR DYSTROPHIES. 8606 05:07:26,312 --> 05:07:27,680 SO ANOTHER RESEARCH PRIORITY IS 8607 05:07:27,680 --> 05:07:31,384 TO CONTRIBUTE PROACTIVELY TO 8608 05:07:31,384 --> 05:07:38,124 TRANSLATION OF GENETIC THERAPIES 8609 05:07:38,124 --> 05:07:45,532 USING AIDS-F AAVs. 8610 05:07:45,532 --> 05:07:47,600 TO OPENLY CHARASH EUS IMPORTANT 8611 05:07:47,600 --> 05:07:49,669 FOR THE TRANSLATION OF GENETIC 8612 05:07:49,669 --> 05:07:49,936 THERAPIES. 8613 05:07:49,936 --> 05:07:51,971 A MEETING REPORT SUMMARIZING THE 8614 05:07:51,971 --> 05:07:53,339 DISCUSSIONS AND RECOMMENDATIONS 8615 05:07:53,339 --> 05:07:55,008 ARE PUBLISHED IN A PEER REVIEWED 8616 05:07:55,008 --> 05:07:56,409 JOURNAL AND THEN WE ALSO 8617 05:07:56,409 --> 05:07:58,311 FUNDRAISE AROUND THE IMPORTANT 8618 05:07:58,311 --> 05:08:01,014 TOPICS RAISED IN THIS MEETING, 8619 05:08:01,014 --> 05:08:03,716 SUCH AS HOW TO BETTER UNDERSTAND 8620 05:08:03,716 --> 05:08:05,752 AND MITIGATE ANTITRANS GENE 8621 05:08:05,752 --> 05:08:07,353 SAFETY CONCERNS IN DMD GENE 8622 05:08:07,353 --> 05:08:11,758 THERAPIES. 8623 05:08:11,758 --> 05:08:14,894 SO WHILE AAVs REPRESENT THE 8624 05:08:14,894 --> 05:08:18,898 MOST PROMPT NENT METHOD FOR 8625 05:08:18,898 --> 05:08:22,836 DELIVERING GENE THERAPIES, MDA 8626 05:08:22,836 --> 05:08:25,872 HAS PARTNERED TO INVESTIGATE THE 8627 05:08:25,872 --> 05:08:27,607 REPURPOSING AFTER AN PROVED DRUG 8628 05:08:27,607 --> 05:08:36,616 FOR MYASTHENIA GRAVIS CALLE CALD 8629 05:08:36,616 --> 05:08:37,684 VYVGART, AS WELL AS EXPLORING 8630 05:08:37,684 --> 05:08:40,620 THE POTENTIAL ABILITY FOR 8631 05:08:40,620 --> 05:08:41,721 REDOING WITH A SECOND GENE 8632 05:08:41,721 --> 05:08:43,756 THERAPY. 8633 05:08:43,756 --> 05:08:48,962 SECONDLY BY OUR VENTURE 8634 05:08:48,962 --> 05:08:50,597 PHILANTHROPY PROGRAM WE'VE MADE 8635 05:08:50,597 --> 05:08:55,168 AN INVESTMENT IN MYOSANA BASED 8636 05:08:55,168 --> 05:08:57,270 OUT UFT UNIVERSITY OF WASHINGTON 8637 05:08:57,270 --> 05:09:00,006 WORK ON NON-VIRAL DELIVERY 8638 05:09:00,006 --> 05:09:01,975 ALTERNATIVES FOR GENE THERAPY. 8639 05:09:01,975 --> 05:09:03,643 IN TERMS OF HEALTHCARE NEEDS, WE 8640 05:09:03,643 --> 05:09:05,545 CONTINUE TO GROW OUR CARE CENTER 8641 05:09:05,545 --> 05:09:08,848 NOTE WORK WITH OVER 150 SITES 8642 05:09:08,848 --> 05:09:10,717 AROUND THE U.S. 8643 05:09:10,717 --> 05:09:14,120 THESE ARE SITES THAT HELP 8644 05:09:14,120 --> 05:09:15,788 SUPPORT PATIENTS GET THE 8645 05:09:15,788 --> 05:09:16,823 SPECIALIZED CARE THEY NEED FOR 8646 05:09:16,823 --> 05:09:18,958 THEIR RESPECTIVE NEUROMUSCULAR 8647 05:09:18,958 --> 05:09:19,559 DISEASES AS WELL AS ENABLING 8648 05:09:19,559 --> 05:09:20,460 INFRASTRUCTURE FOR CLINICAL 8649 05:09:20,460 --> 05:09:22,929 TRIALS AND NATURAL HISTORY 8650 05:09:22,929 --> 05:09:28,134 STUDIES. 8651 05:09:28,134 --> 05:09:30,103 SO OTHER WAYS WE SUPPORT QUALITY 8652 05:09:30,103 --> 05:09:32,238 OF LIFE AND HEALTHCARE NEEDS ARE 8653 05:09:32,238 --> 05:09:34,240 PROVIDING A HEALTHCARE CENTER, 8654 05:09:34,240 --> 05:09:35,708 FAMILY AND COMMUNITY SUPPORT 8655 05:09:35,708 --> 05:09:36,843 CHANNEL, GENE THERAPY SUPPORT 8656 05:09:36,843 --> 05:09:38,845 NETWORK, OUR CARE CENTER SUPPORT 8657 05:09:38,845 --> 05:09:40,813 NETWORK, MEDICAL EDUCATION TO 8658 05:09:40,813 --> 05:09:42,949 HEALTHCARE PROVIDERS, AS WELL AS 8659 05:09:42,949 --> 05:09:44,284 A VARIETY OF COMMUNITY EDUCATION 8660 05:09:44,284 --> 05:09:46,085 AND ENGAGEMENT PROGRAMS, AND I 8661 05:09:46,085 --> 05:09:47,487 WILL SHOWCASE SOME OF THESE IN 8662 05:09:47,487 --> 05:09:54,627 THE NEXT FEW SLIDES. 8663 05:09:54,627 --> 05:09:57,030 SO AS WE'VE DISCUSSED THE FIRST 8664 05:09:57,030 --> 05:09:59,532 GENE THERAPY WAS APPROVED 8665 05:09:59,532 --> 05:10:00,366 EARLIER THIS YEAR AND IT'S 8666 05:10:00,366 --> 05:10:01,367 ANTICIPATED THAT MANY MORE WILL 8667 05:10:01,367 --> 05:10:02,435 FOLLOW IN THE NEXT FEW YEARS. 8668 05:10:02,435 --> 05:10:03,937 WE ARE INVESTING IN STRATEGIES 8669 05:10:03,937 --> 05:10:06,105 TO HELP WITH READINESS AT OUR 8670 05:10:06,105 --> 05:10:08,942 CARE CENTER SITES, SWELL WITHIN 8671 05:10:08,942 --> 05:10:09,542 OUR PATIENT COMMUNITY. 8672 05:10:09,542 --> 05:10:13,980 WE'RE WORKING TO DEVELOP A 8673 05:10:13,980 --> 05:10:14,914 VIRTUAL RESOURCE PLATFORM FOR 8674 05:10:14,914 --> 05:10:16,683 OUR CARE SITES AND WE HAVE 8675 05:10:16,683 --> 05:10:19,652 ESTABLISHED A GENE TEAM WITH 8676 05:10:19,652 --> 05:10:21,120 SPECIALISTS WHO DEAL DIRECTLY 8677 05:10:21,120 --> 05:10:21,988 ONE-ON-ONE WITH OUR PATIENT WHO 8678 05:10:21,988 --> 05:10:23,890 HAVE QUESTIONS AND ARE SEEKING 8679 05:10:23,890 --> 05:10:28,928 RESOURCES ON GENE THERAPY. 8680 05:10:28,928 --> 05:10:30,930 SO OUR GENE THERAPY NETWORK 8681 05:10:30,930 --> 05:10:32,599 OBJECTIVES ARE TO EQUIP OUR CARE 8682 05:10:32,599 --> 05:10:34,200 CENTERS TO DELIVER NEARLY 8683 05:10:34,200 --> 05:10:35,335 APPROVED GENE THERAPIES AND 8684 05:10:35,335 --> 05:10:36,869 THROUGH OUR PLATFORM WE ARE 8685 05:10:36,869 --> 05:10:39,939 DISSEMINATING CHECKLISTS OF 8686 05:10:39,939 --> 05:10:42,675 RESOURCES, PERSONNEL SUPPORTIVE 8687 05:10:42,675 --> 05:10:46,112 CARE TEAMS NEEDED, PROTOCOLS FOR 8688 05:10:46,112 --> 05:10:48,147 POST DOSING MONITORING, FILE 8689 05:10:48,147 --> 05:10:52,185 BEIINGFOR REIMBURSEMENTS AS WELS 8690 05:10:52,185 --> 05:10:53,853 EDUCATIONAL RESOURCES FOR 8691 05:10:53,853 --> 05:10:56,222 PATIENT AND CAREGIVERS TO ALIGN 8692 05:10:56,222 --> 05:10:58,124 EXPECTATIONS, HOW TO PREPARE FOR 8693 05:10:58,124 --> 05:11:02,729 PRE AND POST INFUSION LOGISTICS, 8694 05:11:02,729 --> 05:11:03,763 AND MONITORING FOR SIGNS OF 8695 05:11:03,763 --> 05:11:09,302 ADVERSE EVENTS. 8696 05:11:09,302 --> 05:11:12,138 SO TO ADDRESS QUALITY OF LIFE 8697 05:11:12,138 --> 05:11:12,839 NEEDS, MDA INVESTS IN A VARIETY 8698 05:11:12,839 --> 05:11:15,675 OF RECREATION NAP PROGRAMS. 8699 05:11:15,675 --> 05:11:18,611 THE SO YOU MAY HAVE HEARD OF OUR 8700 05:11:18,611 --> 05:11:19,612 WELL-KNOWN SUMMER CAMPS FOR 8701 05:11:19,612 --> 05:11:21,881 CHILDREN BUT RECENTLY MDA ALSO 8702 05:11:21,881 --> 05:11:24,450 INTRODUCED FAMILY GETAWAYS WHERE 8703 05:11:24,450 --> 05:11:25,418 PATIENTS AND THEIR FAMILIES CAN 8704 05:11:25,418 --> 05:11:27,153 PARTICIPATE IN MEANINGFUL WRECK 8705 05:11:27,153 --> 05:11:30,390 RATIONAL EXPERIENCES, SO I 8706 05:11:30,390 --> 05:11:31,257 BELIEVE THEY'VE LAUNCHED FOUR 8707 05:11:31,257 --> 05:11:36,062 SESSIONS IN O OREGON, PUERTO RI, 8708 05:11:36,062 --> 05:11:36,529 TEXAS, NORTH CAROLINA. 8709 05:11:36,529 --> 05:11:37,563 POSITIVE QUALITY OF LIFE 8710 05:11:37,563 --> 05:11:39,699 MEASURES SUCH AS MAKING A NEW 8711 05:11:39,699 --> 05:11:41,634 FRIEND, TRYING SOMETHING NEW FOR 8712 05:11:41,634 --> 05:11:43,169 THE FIRST TIME AND FEELING MORE 8713 05:11:43,169 --> 05:11:45,505 CONFIDENT HAVE BEEN NOTED IN 8714 05:11:45,505 --> 05:11:46,939 SURVEYS FROM PARTICIPATING 8715 05:11:46,939 --> 05:11:50,243 INDIVIDUALS IN OUR RECREATIONAL 8716 05:11:50,243 --> 05:11:53,579 PROGRAMS. 8717 05:11:53,579 --> 05:11:56,115 SO IN TERMS OF ADVOCACY, OUR 8718 05:11:56,115 --> 05:11:58,351 STRATEGIC INITIATIVES FALL UNDER 8719 05:11:58,351 --> 05:11:58,851 THESE THREE CATEGORIES. 8720 05:11:58,851 --> 05:11:59,686 ACCESS TO CARE IS WHERE WE SEEK 8721 05:11:59,686 --> 05:12:01,821 TO ENSURE A ACCESS TO ANYTHING 8722 05:12:01,821 --> 05:12:04,324 THAT CAN BENEFIT THE HEALTH OF 8723 05:12:04,324 --> 05:12:07,226 OUR COMMUNITY. 8724 05:12:07,226 --> 05:12:08,394 THESE ARE THE FOUR AREAS WE 8725 05:12:08,394 --> 05:12:10,163 EXPECT TO PRIORITIZE IN THE 8726 05:12:10,163 --> 05:12:12,699 PORTFOLIO OVER THE NEXT FOUR 8727 05:12:12,699 --> 05:12:15,401 YEARS, SHORTENING DIAGNOSTIC 8728 05:12:15,401 --> 05:12:21,407 ODYSSEY AND NEWBORN SCREENING 8729 05:12:21,407 --> 05:12:23,609 AND GENETIC TESTING. 8730 05:12:23,609 --> 05:12:25,244 ACCESS TO GENETIC MEDICINES AND 8731 05:12:25,244 --> 05:12:27,714 A GUARANTEE OF ACCESS TO 8732 05:12:27,714 --> 05:12:31,351 AFFORDABLE HEALTH INSURANCE. 8733 05:12:31,351 --> 05:12:32,318 THE SECOND IS ACCELERATING 8734 05:12:32,318 --> 05:12:34,620 THERAPEUTIC DEVELOPMENT IS THE 8735 05:12:34,620 --> 05:12:37,023 AREA IN WHICH WE TRY TO GET MORE 8736 05:12:37,023 --> 05:12:38,458 AND BETTER THERAPIES TO OUR 8737 05:12:38,458 --> 05:12:39,559 COMMUNITY MORE QUICKLY. 8738 05:12:39,559 --> 05:12:41,661 THIS INCLUDES WORKING WITH FDA, 8739 05:12:41,661 --> 05:12:44,063 INDUSTRY AND CONGRESS TO ENSURE 8740 05:12:44,063 --> 05:12:46,232 THAT THE DRUG DEVELOPMENT 8741 05:12:46,232 --> 05:12:47,400 ECOSYSTEM, PARTICULARLY FOR GENE 8742 05:12:47,400 --> 05:12:50,136 THERAPIES, IS WORKING OPTIMALLY. 8743 05:12:50,136 --> 05:12:51,070 AND THE THIRD IS WHERE WE TRY TO 8744 05:12:51,070 --> 05:12:53,206 BREAK DOWN THE SOCIETAL BARRIERS 8745 05:12:53,206 --> 05:12:56,142 THAT PREVENT PATIENTS FROM 8746 05:12:56,142 --> 05:12:57,110 LEADING LIVES THAT THEY WISH TO 8747 05:12:57,110 --> 05:12:57,477 LEAD. 8748 05:12:57,477 --> 05:12:59,579 AND THIS INCLUDES ACCESSIBILITY 8749 05:12:59,579 --> 05:13:02,181 CHALLENGES, PARTICULARLY IN 8750 05:13:02,181 --> 05:13:04,183 TRANSPORTATION, ACCESS TO 8751 05:13:04,183 --> 05:13:05,418 BENEFITS, EMPLOYMENT, EDUCATION, 8752 05:13:05,418 --> 05:13:11,858 AND FINANCIAL SECURITY. 8753 05:13:11,858 --> 05:13:13,526 OUR ANNUAL AND CLINICAL 8754 05:13:13,526 --> 05:13:17,563 SCIENTIFIC MEETING IS IN ORLANDO 8755 05:13:17,563 --> 05:13:19,699 NEXT YEAR, ALSO WITH A VIRTUAL 8756 05:13:19,699 --> 05:13:20,433 OPTION. 8757 05:13:20,433 --> 05:13:24,270 THIS TYPICALLY DRAWS A CROWD OF 8758 05:13:24,270 --> 05:13:24,871 ABOUT 1,500 MAYBE. 8759 05:13:24,871 --> 05:13:26,105 THIS MEETING IS TARGETED TOWARDS 8760 05:13:26,105 --> 05:13:27,140 HEALTHCARE PROFESSIONALS, 8761 05:13:27,140 --> 05:13:28,608 RESEARCHERS AND CLINICIANS IN 8762 05:13:28,608 --> 05:13:30,710 THE NEUROMUSCULAR DISEASE SPACE. 8763 05:13:30,710 --> 05:13:33,279 EXAMPLE SESSIONS INCLUDE 8764 05:13:33,279 --> 05:13:34,347 SPECIFIC DISEASE FOCUSED ONES, 8765 05:13:34,347 --> 05:13:36,315 AS WELL AS SESSIONS THAT COVER 8766 05:13:36,315 --> 05:13:38,117 CLINICAL CONSIDERATIONS IN 8767 05:13:38,117 --> 05:13:40,019 STREAMLINING CARE. 8768 05:13:40,019 --> 05:13:42,522 WE ALSO HOLD SPECIFIC CAREER 8769 05:13:42,522 --> 05:13:45,158 DEVELOPMENT SESSIONS, MEANINGFUL 8770 05:13:45,158 --> 05:13:46,092 CARE CENTER DIRECTORS, AND 8771 05:13:46,092 --> 05:13:47,794 GATHERING FOR PARTNER 8772 05:13:47,794 --> 05:13:51,164 ORGANIZATIONS TO DISCUSS 8773 05:13:51,164 --> 05:13:58,805 ADVOCACY COLLABORATIONS. 8774 05:13:58,805 --> 05:14:02,074 SO I WANT TO END SUMMARIZING OUR 8775 05:14:02,074 --> 05:14:02,608 RESEARCH INITIATIVES. 8776 05:14:02,608 --> 05:14:05,278 WE HAVE MOSTLY RECOVERED FROM 8777 05:14:05,278 --> 05:14:07,947 THE IMPACTS OF THE COVID 8778 05:14:07,947 --> 05:14:09,382 PANDEMIC, WE HAVE NOT YET OPENED 8779 05:14:09,382 --> 05:14:12,251 ALL OUR GRANT CATEGORIES AND ARE 8780 05:14:12,251 --> 05:14:14,053 PRIORITIZING THE MOST IMPACTFUL 8781 05:14:14,053 --> 05:14:16,823 ONES MAKING SURE OUR YOUNG AND 8782 05:14:16,823 --> 05:14:18,825 EARLY STAGE INVESTIGATORS REMAIN 8783 05:14:18,825 --> 05:14:19,091 SUPPORTED. 8784 05:14:19,091 --> 05:14:21,561 WE ARE OPEN TO COLLABORATIVE 8785 05:14:21,561 --> 05:14:23,062 FUNDING OPPORTUNITIES THROUGH 8786 05:14:23,062 --> 05:14:25,465 PARTNERSHIPS AND COFUNDING 8787 05:14:25,465 --> 05:14:28,968 PROJECTS WITH OTHER ADVOCACY 8788 05:14:28,968 --> 05:14:31,504 ORGANIZATIONS. 8789 05:14:31,504 --> 05:14:35,107 I SPOKE ABOUT A MOVR REGISTRY IN 8790 05:14:35,107 --> 05:14:37,977 WHICH WE CONTINUE TO EXPAND AND 8791 05:14:37,977 --> 05:14:39,612 ADD MORE INDICATIONS. 8792 05:14:39,612 --> 05:14:41,581 OUR VENTURE PHILANTHROPY PROGRAM 8793 05:14:41,581 --> 05:14:43,449 WE'RE BEGINNING TO SEE EARLY 8794 05:14:43,449 --> 05:14:45,384 INVESTMENTS LEADING TO DRUG 8795 05:14:45,384 --> 05:14:50,690 APPROVAL SUCH AS GAMRY, AS IT'S 8796 05:14:50,690 --> 05:14:52,425 CALLED, AND WE ARE BEING 8797 05:14:52,425 --> 05:14:54,927 PROACTIVE IN AREAS OF READINESS 8798 05:14:54,927 --> 05:14:56,329 IN GENE THERAPY AS WELL AS 8799 05:14:56,329 --> 05:14:59,732 INCREASING DIVERSITY IN 8800 05:14:59,732 --> 05:15:00,466 REPRESENTATION IN OUR FIELDS AND 8801 05:15:00,466 --> 05:15:02,101 WE'RE EXCITED ABOUT OUR NEW KICK 8802 05:15:02,101 --> 05:15:05,605 START PROGRAM AS WELL AS TO HOST 8803 05:15:05,605 --> 05:15:07,507 OUR ANNUAL CONFERENCE IN ORLANDO 8804 05:15:07,507 --> 05:15:11,511 NEXT YEAR. 8805 05:15:11,511 --> 05:15:13,679 SO WITH THAT, I'D LIKE TO THANK 8806 05:15:13,679 --> 05:15:15,081 EVERYONE FOR THEIR SUPPORT AND 8807 05:15:15,081 --> 05:15:16,749 PLEASE REACH OUT IF YOU HAVE ANY 8808 05:15:16,749 --> 05:15:17,483 COLLABORATIVE IDEAS OR 8809 05:15:17,483 --> 05:15:19,318 SUGGESTIONS. 8810 05:15:19,318 --> 05:15:20,686 THANK YOU. 8811 05:15:20,686 --> 05:15:22,955 >> THANK YOU SO MUCH, ANGELA. 8812 05:15:22,955 --> 05:15:24,123 I SEE THERE'S ALREADY A QUESTION 8813 05:15:24,123 --> 05:15:27,693 IN THE CHAT BOX. 8814 05:15:27,693 --> 05:15:29,829 FOR YOU FROM 8815 05:15:29,829 --> 05:15:31,931 MARIE PIERRE. 8816 05:15:31,931 --> 05:15:32,932 >> OKAY. 8817 05:15:32,932 --> 05:15:35,601 ARE DATA COLLECTED AVAILABLE TO 8818 05:15:35,601 --> 05:15:37,470 ENTITIES INSTITUTION -- YES, YOU 8819 05:15:37,470 --> 05:15:41,007 MEAN THE DATA COLLECTED BY MOVR? 8820 05:15:41,007 --> 05:15:50,550 YES, YES, DEFINITELY ARE. 8821 05:15:50,550 --> 05:15:52,685 ARE YOU ABLE TO EMAIL ME AND I 8822 05:15:52,685 --> 05:15:54,687 WILL CONNECT YOU TO OUR MOVR 8823 05:15:54,687 --> 05:15:54,954 TEAM? 8824 05:15:54,954 --> 05:15:59,725 HOW DO YOU -- OH, YES, SO IF YOU 8825 05:15:59,725 --> 05:16:02,995 APPLY TO ACCESS THE DATA, WE 8826 05:16:02,995 --> 05:16:04,397 WILL CROSS-REFERENCE THAT WITH 8827 05:16:04,397 --> 05:16:05,698 OUR DATA GOVERNANCE POLICY TO 8828 05:16:05,698 --> 05:16:09,802 MAKE SURE THAT IT'S ALLOWABLE 8829 05:16:09,802 --> 05:16:11,971 FOR USE FOR YOUR PARTICULAR 8830 05:16:11,971 --> 05:16:13,306 STUDY. 8831 05:16:13,306 --> 05:16:20,880 BUT THE DATA CAN BE ACCESSED AND 8832 05:16:20,880 --> 05:16:22,381 DEIDENTIFIED SO WE CAN 8833 05:16:22,381 --> 05:16:23,115 DEFINITELY GIVE YOU ACCESS TO 8834 05:16:23,115 --> 05:16:23,649 THAT. 8835 05:16:23,649 --> 05:16:25,751 >> I WAS JUST WONDERING HOW DO 8836 05:16:25,751 --> 05:16:29,322 YOU FACILITATE FOR DIFFERENT 8837 05:16:29,322 --> 05:16:29,855 INVESTIGATORS THAT MAY BE 8838 05:16:29,855 --> 05:16:34,961 INTERESTED IN ACCESSING THAT 8839 05:16:34,961 --> 05:16:36,262 DATA, DEPENDING ON THE DIFFERENT 8840 05:16:36,262 --> 05:16:41,200 STAGE THEY ARE, THE RESEARCH -- 8841 05:16:41,200 --> 05:16:46,238 >> SO I CAN'T REALLY HEAR YOU. 8842 05:16:46,238 --> 05:16:48,407 >> I WAS ASKING THE QUESTION FOR 8843 05:16:48,407 --> 05:16:50,376 GENERALLY HOW DIFFERENT 8844 05:16:50,376 --> 05:16:53,012 INVESTIGATORS, DEPENDING ON THE 8845 05:16:53,012 --> 05:16:55,348 STAGE OF THE RESEARCH AND HOW DO 8846 05:16:55,348 --> 05:16:58,184 YOU MAKE THAT DATA AVAILABLE FOR 8847 05:16:58,184 --> 05:16:58,584 THEM? 8848 05:16:58,584 --> 05:17:01,387 BECAUSE I THOUGHT IT WAS A GREAT 8849 05:17:01,387 --> 05:17:03,422 IDEA THAT ALL THE PATIENT DATA 8850 05:17:03,422 --> 05:17:05,591 IS BEING COLLECTED, BUT ACCESS 8851 05:17:05,591 --> 05:17:07,927 AND HOW DO YOU USE IT DOWN THE 8852 05:17:07,927 --> 05:17:10,129 LINE IS ALSO -- 8853 05:17:10,129 --> 05:17:13,766 >> YEAH, YES. 8854 05:17:13,766 --> 05:17:16,435 SO INVESTIGATORS WILL APPLY TO 8855 05:17:16,435 --> 05:17:18,638 USE THE DATA IN DIFFERENT WAYS. 8856 05:17:18,638 --> 05:17:20,406 THEY CAN ASK US TO PERFORM 8857 05:17:20,406 --> 05:17:20,873 ANALYSIS. 8858 05:17:20,873 --> 05:17:23,142 THEY CAN HAVE THE DATA 8859 05:17:23,142 --> 05:17:26,145 THEMSELVES, OR WE HAVE A 8860 05:17:26,145 --> 05:17:27,747 VIRTUAL -- LIKE A VISUALIZATION 8861 05:17:27,747 --> 05:17:29,615 PLATFORM IN WHICH THEY CAN PLAY 8862 05:17:29,615 --> 05:17:32,918 AROUND WITH THE DATA AND THEIR 8863 05:17:32,918 --> 05:17:34,420 BASIC KIND OF ALSO SCRIPTS TO 8864 05:17:34,420 --> 05:17:35,655 HELP YOU ANALYZE THE DATA AND 8865 05:17:35,655 --> 05:17:37,923 GET WHAT YOU NEED. 8866 05:17:37,923 --> 05:17:40,826 BUT IF YOU -- WE CAN LET YOU 8867 05:17:40,826 --> 05:17:41,427 KNOW, YOU KNOW, INVESTIGATORS 8868 05:17:41,427 --> 05:17:44,730 CAN TELL US WHAT KIND OF -- WHAT 8869 05:17:44,730 --> 05:17:47,066 INTERESTS THEM AND WE CAN HAVE A 8870 05:17:47,066 --> 05:17:47,633 CONVERSATION AND WE CAN HELP 8871 05:17:47,633 --> 05:17:52,772 THEM GET WHAT THEY NEED. 8872 05:17:52,772 --> 05:17:53,873 >> THANK YOU, ANGELA. 8873 05:17:53,873 --> 05:17:55,608 NOW THERE'S A QUESTION FROM MY 8874 05:17:55,608 --> 05:17:56,976 GOOD COLLEAGUE DR. WALTER 8875 05:17:56,976 --> 05:18:00,680 KOROSHETZ. 8876 05:18:00,680 --> 05:18:01,947 >> HI, ANGELA. 8877 05:18:01,947 --> 05:18:05,885 JUST WONDERING IF YOU CAN ANSWER 8878 05:18:05,885 --> 05:18:07,453 THIS, I WAS WONDERING WHAT 8879 05:18:07,453 --> 05:18:09,622 PEOPLE THINK THE PENETRANCE OF 8880 05:18:09,622 --> 05:18:11,691 THE CURRENT GENE THERAPY WILL 8881 05:18:11,691 --> 05:18:15,094 BE, AND HOW THAT WILL AFFECT THE 8882 05:18:15,094 --> 05:18:17,663 TRIALS OF FUTURE THINGS COMING 8883 05:18:17,663 --> 05:18:21,100 UP. 8884 05:18:21,100 --> 05:18:23,836 >> PENETRANCE INTO -- CAN YOU 8885 05:18:23,836 --> 05:18:26,872 BETTER DEFINE WHAT YOU MEAN BY 8886 05:18:26,872 --> 05:18:27,173 PENETRANCE? 8887 05:18:27,173 --> 05:18:28,974 >> I'M GUESSING THAT IF 100% OF 8888 05:18:28,974 --> 05:18:31,744 THE PEOPLE ARE ON THE APPROVED 8889 05:18:31,744 --> 05:18:34,046 GENE THERAPY, THEY WILL NOT BE 8890 05:18:34,046 --> 05:18:35,281 ELIGIBLE FOR A NEW GENE THERAPY. 8891 05:18:35,281 --> 05:18:36,649 >> OH, RIGHT, RIGHT, RIGHT. 8892 05:18:36,649 --> 05:18:39,952 I SEE WHAT YOU MEAN. 8893 05:18:39,952 --> 05:18:42,254 YES, THAT IS DEFINITELY THE CASE 8894 05:18:42,254 --> 05:18:44,023 RIGHT NOW FOR AAV GENE 8895 05:18:44,023 --> 05:18:44,457 THERAPIES. 8896 05:18:44,457 --> 05:18:49,562 HAVING SAID THAT, THERE ARE MANY 8897 05:18:49,562 --> 05:18:53,933 ACTIVE STRATEGIES NOW TO -- THE 8898 05:18:53,933 --> 05:18:55,201 AAV ANTIBODIES, AND I BELIEVE IN 8899 05:18:55,201 --> 05:18:56,702 THE NEXT FIVE YEARS, WE'RE GOING 8900 05:18:56,702 --> 05:18:57,636 TO BE SEEING SOME OF THEM 8901 05:18:57,636 --> 05:18:59,038 EMPLOYED AND ALLOWING 8902 05:18:59,038 --> 05:19:03,209 INDIVIDUALS TO BE RE-DOSED WITH 8903 05:19:03,209 --> 05:19:03,542 AAV THERAPIES. 8904 05:19:03,542 --> 05:19:04,677 THERE ARE LOTS OF PROMISING 8905 05:19:04,677 --> 05:19:05,644 THINGS IN THE PIPELINE THAT 8906 05:19:05,644 --> 05:19:15,855 WE'VE SEEN. 8907 05:19:17,056 --> 05:19:21,761 >> RELATED TO THE CONGENITAL 8908 05:19:21,761 --> 05:19:23,295 MYASTHENIA PROGRAM, SO IT'S A 8909 05:19:23,295 --> 05:19:23,963 VERY RARE DISEASE. 8910 05:19:23,963 --> 05:19:25,931 ARE YOU ANTICIPATING THAT IT 8911 05:19:25,931 --> 05:19:28,701 WOULD EVENTUALLY BE 8912 05:19:28,701 --> 05:19:30,436 COMMERCIALIZED, OR IF NO ONE 8913 05:19:30,436 --> 05:19:31,837 PICKS IT UP, DO YOU HAVE ANY 8914 05:19:31,837 --> 05:19:36,342 PLANS TO MAKING IT AVAILABLE? 8915 05:19:36,342 --> 05:19:39,812 >> YEAH, SO WE DEFINITELY HAVE 8916 05:19:39,812 --> 05:19:43,949 PLANS TO -- IF POSSIBLE, TO 8917 05:19:43,949 --> 05:19:46,485 COMMERCIALIZE, BUT IT IS 8918 05:19:46,485 --> 05:19:48,754 DIFFICULT IN THE CURRENT 8919 05:19:48,754 --> 05:19:51,423 ECONOMIC, YOU KNOW, LANDSCAPE 8920 05:19:51,423 --> 05:19:53,359 FOR RARE DISEASES. 8921 05:19:53,359 --> 05:19:56,328 IT COULD POSSIBLY WELL BE THAT 8922 05:19:56,328 --> 05:19:59,031 SOME GENE THERAPIES FOR 8923 05:19:59,031 --> 05:20:00,699 ULTRA-RARE DISEASES MAY JUST 8924 05:20:00,699 --> 05:20:04,003 REMAIN AS AN OPEN IND AND ACCESS 8925 05:20:04,003 --> 05:20:05,938 TO IT WILL BE LIMITED TO JUST 8926 05:20:05,938 --> 05:20:09,675 ONE SITE, BUT THAT'S 8927 05:20:09,675 --> 05:20:11,010 DEFINITELY -- WE'RE HOPING THAT 8928 05:20:11,010 --> 05:20:15,247 WE WILL DE-RISK THE PROGRAM 8929 05:20:15,247 --> 05:20:17,216 ENOUGH AND GET ENOUGH DATA THAT 8930 05:20:17,216 --> 05:20:20,252 IT WILL SUFFICIENTLY INTEREST A 8931 05:20:20,252 --> 05:20:22,988 BIOTECH PARTNER TO TAKE IT ALL 8932 05:20:22,988 --> 05:20:28,961 THE WAY. 8933 05:20:28,961 --> 05:20:30,262 >> OKAY. 8934 05:20:30,262 --> 05:20:30,529 THANK YOU. 8935 05:20:30,529 --> 05:20:32,898 SO NOW WE ARE GOING TO HAVE A 8936 05:20:32,898 --> 05:20:36,001 RETURN ENGAGEMENT FOR DR. ERIC 8937 05:20:36,001 --> 05:20:37,336 CAMINO. 8938 05:20:37,336 --> 05:20:37,970 YOU'VE HEARD HIM EARLIER IN THE 8939 05:20:37,970 --> 05:20:38,671 DAY. 8940 05:20:38,671 --> 05:20:40,606 HE'S THE VICE PRESIDENT FOR 8941 05:20:40,606 --> 05:20:42,608 RESEARCH AND CLINICAL INNOVATION 8942 05:20:42,608 --> 05:20:44,410 WITH PPMD AND HE'S GOING TO TELL 8943 05:20:44,410 --> 05:20:45,411 US ABOUT THEIR GOALS AND 8944 05:20:45,411 --> 05:20:49,114 STRATEGIC PLANS. 8945 05:20:49,114 --> 05:20:49,782 >> THANK YOU. 8946 05:20:49,782 --> 05:20:58,991 SO I JUST WANTED TO START, I 8947 05:20:58,991 --> 05:21:00,826 TALKED EARLIER A LITTLE BIT 8948 05:21:00,826 --> 05:21:04,496 ABOUT PPMD BUT JUST FOR ANYONE 8949 05:21:04,496 --> 05:21:05,764 UNFAMILIAR, WE WERE FOUNDED IN 8950 05:21:05,764 --> 05:21:06,098 1994. 8951 05:21:06,098 --> 05:21:09,301 OUR APPROACH IS TO REALLY TRY TO 8952 05:21:09,301 --> 05:21:10,903 ADDRESS DUCHENNE AND BECKER 8953 05:21:10,903 --> 05:21:11,570 MUSCULAR DYSTROPHY THROUGH 8954 05:21:11,570 --> 05:21:13,739 FUNDING OF RESEARCH THROUGH OUR 8955 05:21:13,739 --> 05:21:16,141 ADVOCACY EFFORTS, THROUGH CARE 8956 05:21:16,141 --> 05:21:17,409 AND EDUCATION. 8957 05:21:17,409 --> 05:21:18,210 AND SO I'M NOT GOING TO TALK AS 8958 05:21:18,210 --> 05:21:21,814 MUCH ABOUT SOME OF OUR CARE 8959 05:21:21,814 --> 05:21:23,816 PROGRAM TODAY. 8960 05:21:23,816 --> 05:21:26,418 WE DO HAVE 37 CERTIFIED DUCHENNE 8961 05:21:26,418 --> 05:21:27,419 CARE CENTERS ACROSS THE NATION. 8962 05:21:27,419 --> 05:21:29,288 AND THOSE ARE CENTERS WHERE WE 8963 05:21:29,288 --> 05:21:30,823 HAVE KIND OF VETTED THEM AND 8964 05:21:30,823 --> 05:21:32,224 THEY'VE GONE THROUGH A PROCESS 8965 05:21:32,224 --> 05:21:33,025 TO ENSURE THAT THEY ARE 8966 05:21:33,025 --> 05:21:35,160 DELIVERING THE MULTIDISCIPLINARY 8967 05:21:35,160 --> 05:21:39,265 CARE THAT IS OUTLINES IN THE 8968 05:21:39,265 --> 05:21:39,665 CARE STANDARDS. 8969 05:21:39,665 --> 05:21:41,400 WITH THAT PROGRAM IN CARE, WE'VE 8970 05:21:41,400 --> 05:21:45,738 ALSO LAUNCHED A PILOT PROGRAM AT 8971 05:21:45,738 --> 05:21:48,307 U. PENN FOR A CARRIER CLINIC 8972 05:21:48,307 --> 05:21:50,209 SPECIFIC TO CARRIERS OF DUCHENNE 8973 05:21:50,209 --> 05:21:52,811 AND BECKER MUSCULAR DYSTROPHY. 8974 05:21:52,811 --> 05:21:55,848 SO SINCE OUR FOUNDING, WE'VE 8975 05:21:55,848 --> 05:21:56,482 FUNDED OVER 55 MILLION-DOLLARS 8976 05:21:56,482 --> 05:21:59,451 IN RESEARCH AND DEVELOPMENT. 8977 05:21:59,451 --> 05:22:01,520 WE ESTABLISHED THE DUCHENNE 8978 05:22:01,520 --> 05:22:02,187 REGISTRY WHICH I'M GOING TO TALK 8979 05:22:02,187 --> 05:22:02,922 ABOUT A LITTLE BIT. 8980 05:22:02,922 --> 05:22:04,924 WE HAVE THE LONGEST RUNNING 8981 05:22:04,924 --> 05:22:06,425 ADVOCACY CONFERENCE IN RARE 8982 05:22:06,425 --> 05:22:07,526 DISEASE AND HELPED TO GET FOUR 8983 05:22:07,526 --> 05:22:09,194 PIECES OF LEGISLATION SIGNED 8984 05:22:09,194 --> 05:22:10,162 INTO LAW. 8985 05:22:10,162 --> 05:22:12,231 SO WHERE I'M GOING TO START 8986 05:22:12,231 --> 05:22:14,266 TODAY IS ON THE DUCHENNE 8987 05:22:14,266 --> 05:22:15,234 REGISTRY AND KIND OF WHAT OUR 8988 05:22:15,234 --> 05:22:17,836 THOUGHTS ARE FOR THE EVOLVING OF 8989 05:22:17,836 --> 05:22:20,205 THIS AND DATA COLLECTION. 8990 05:22:20,205 --> 05:22:22,241 SO THE DUCHENNE REGISTRY HAS 8991 05:22:22,241 --> 05:22:25,177 BEEN AROUND FOR 15 YEARS. 8992 05:22:25,177 --> 05:22:29,615 WE HAVE AROUND 5700 TOTAL 8993 05:22:29,615 --> 05:22:31,150 REGISTRANTS GLOBALLY. 8994 05:22:31,150 --> 05:22:32,751 THIS IS ALL PATIENT-REPORTED 8995 05:22:32,751 --> 05:22:34,687 DATA, SO TYPICALLY IT'S 8996 05:22:34,687 --> 05:22:38,257 CAREGIVERS OF THE CHILDREN BUT 8997 05:22:38,257 --> 05:22:39,291 SOME OF THE ADULTS THEMSELVES 8998 05:22:39,291 --> 05:22:40,793 ARE IN THE REGISTRY. 8999 05:22:40,793 --> 05:22:43,896 AND THERE'S A SERIES OF MODULES 9000 05:22:43,896 --> 05:22:45,597 THAT THEY -- AND SURVEYS THAT 9001 05:22:45,597 --> 05:22:46,665 THEY COMPLETE TO ENTER DATA. 9002 05:22:46,665 --> 05:22:48,901 AND WITH THAT, THEY ENTER 9003 05:22:48,901 --> 05:22:50,869 GENETIC TEST REPORTS AND SO 9004 05:22:50,869 --> 05:22:52,471 THESE GENETIC TEST REPORTS ARE 9005 05:22:52,471 --> 05:22:53,872 CURATED BY THE GENETIC 9006 05:22:53,872 --> 05:22:56,241 COUNSELORS THAT WE HAVE ON 9007 05:22:56,241 --> 05:22:57,009 STAFF, SO NIKI ARMSTRONG, WHO 9008 05:22:57,009 --> 05:22:58,978 YOU HEARD EARLIER TODAY, IS ONE 9009 05:22:58,978 --> 05:23:01,313 OF THOSE GENETIC COUNSELORS. 9010 05:23:01,313 --> 05:23:04,116 WE RECENTLY PUBLISHED OUR 9011 05:23:04,116 --> 05:23:06,018 15-YEAR REGISTRY REPORT FOR THE 9012 05:23:06,018 --> 05:23:08,854 COMMUNITY. 9013 05:23:08,854 --> 05:23:11,023 FOR US THIS WAS REALLY IMPORTANT 9014 05:23:11,023 --> 05:23:12,424 AS A WAY TO HELP SHOW THE 9015 05:23:12,424 --> 05:23:14,093 COMMUNITY WHAT THEY'RE DOING. 9016 05:23:14,093 --> 05:23:15,694 IT'S A NICE GIVE-BACK. 9017 05:23:15,694 --> 05:23:16,462 IT'S IMPORTANT, WE FEEL, THAT 9018 05:23:16,462 --> 05:23:18,030 PATIENTS UNDERSTAND WHAT THE USE 9019 05:23:18,030 --> 05:23:19,365 IS AND SO TO DATE, IT'S BEEN 9020 05:23:19,365 --> 05:23:22,267 USED FOR RECRUITMENT IN 82 9021 05:23:22,267 --> 05:23:23,669 CLINICAL TRIALS AND 100 RESEARCH 9022 05:23:23,669 --> 05:23:24,303 STUDIES. 9023 05:23:24,303 --> 05:23:26,171 WE HAVE A NUMBER OF INDUSTRY 9024 05:23:26,171 --> 05:23:28,607 PARTNERS WHO HAVE ACCESSED THIS 9025 05:23:28,607 --> 05:23:29,074 DATA. 9026 05:23:29,074 --> 05:23:30,509 WE HAVE 13 PUBLICATIONS THAT 9027 05:23:30,509 --> 05:23:32,878 HAVE BEEN USED FROM REGISTRY 9028 05:23:32,878 --> 05:23:33,078 DATA. 9029 05:23:33,078 --> 05:23:36,548 SO THE REGISTRY REPORT, IT'S 9030 05:23:36,548 --> 05:23:38,350 AVAILABLE ON PPMD'S WEBSITE BUT 9031 05:23:38,350 --> 05:23:40,085 WE TRY TO PULL THIS INTO SOME 9032 05:23:40,085 --> 05:23:41,353 FAMILY FRIENDLY LANGUAGE 9033 05:23:41,353 --> 05:23:41,987 EXPLAINING ALL OF THE DIFFERENT 9034 05:23:41,987 --> 05:23:43,222 THINGS THAT ARE CAPTURED IN 9035 05:23:43,222 --> 05:23:44,690 THERE, MAKING SOME GRAPHS THAT 9036 05:23:44,690 --> 05:23:46,091 REALLY HELP EXPLAIN THIS AND I 9037 05:23:46,091 --> 05:23:47,226 ALWAYS THINK THERE'S SOME REALLY 9038 05:23:47,226 --> 05:23:48,927 INTERESTING DATA THAT COMES OUT 9039 05:23:48,927 --> 05:23:49,161 OF THIS. 9040 05:23:49,161 --> 05:23:50,929 FOR INSTANCE, SEEING THE 9041 05:23:50,929 --> 05:23:52,264 DIFFERENT TRENDS OVER THE PAST 9042 05:23:52,264 --> 05:23:54,566 KIND OF SETS OF FIVE YEARS IN 9043 05:23:54,566 --> 05:23:56,568 TERMS OF STEROID USE, WE CAN SEE 9044 05:23:56,568 --> 05:23:58,137 IN THE PAST FIVE YEARS, WE'VE 9045 05:23:58,137 --> 05:24:00,906 HAD THIS CHANGE WHERE MORE 9046 05:24:00,906 --> 05:24:02,908 NON-AMBULATORY PATIENTS ARE 9047 05:24:02,908 --> 05:24:04,743 CONTINUING TO STAY ON STEROIDS, 9048 05:24:04,743 --> 05:24:06,745 WHEREAS THAT PREVIOUSLY IS 9049 05:24:06,745 --> 05:24:09,314 SOMETHING THAT WOULD DECLINE. 9050 05:24:09,314 --> 05:24:11,450 AND ONE OF THE IMPORTANT ASPECTS 9051 05:24:11,450 --> 05:24:12,084 OR THE THINGS THAT WE'RE LOOKING 9052 05:24:12,084 --> 05:24:15,320 TO DO TO BUILD ON THIS REGISTRY 9053 05:24:15,320 --> 05:24:16,989 AND PATIENT-REPORTED OUTCOME IS 9054 05:24:16,989 --> 05:24:18,991 FOLD SOME OF THE DATA THAT WE'RE 9055 05:24:18,991 --> 05:24:20,192 COLLECTING FROM THE DUCHENNE 9056 05:24:20,192 --> 05:24:21,360 REGISTRY INTO OUR DUCHENNE 9057 05:24:21,360 --> 05:24:25,864 OUTCOMES RESEARCH EXHIB INTERCH. 9058 05:24:25,864 --> 05:24:27,633 SO THE OUTCOMES RESEARCH 9059 05:24:27,633 --> 05:24:29,535 INTERCHANGE, WE OFTEN REFER TO 9060 05:24:29,535 --> 05:24:32,838 IT AS DORI, WAS LAUNCHED IN 2019 9061 05:24:32,838 --> 05:24:34,807 WITH THE IDEA OF COMBINING OUR 9062 05:24:34,807 --> 05:24:36,642 PATIENT-REPORTED DATA WITH 9063 05:24:36,642 --> 05:24:37,309 CLINICIAN REPORTED DATA FROM 9064 05:24:37,309 --> 05:24:39,645 APPROVED THERAPIES, AND 9065 05:24:39,645 --> 05:24:40,646 ELECTRONIC HEALTH RECORDS. 9066 05:24:40,646 --> 05:24:43,048 SO TRYING TO BUILD A WAREHOUSE 9067 05:24:43,048 --> 05:24:44,583 WHERE WE CAN PULL IN ALL OF THIS 9068 05:24:44,583 --> 05:24:46,985 DIFFERENT DATA. 9069 05:24:46,985 --> 05:24:49,688 SO CURRENTLY, OUR OUTCOMES 9070 05:24:49,688 --> 05:24:51,423 RESEARCH INTERCHANGE HAS OUR 9071 05:24:51,423 --> 05:24:51,924 DUCHENNE REGISTRY DATA. 9072 05:24:51,924 --> 05:24:57,229 WE HAVE DATA FROM OUR EHR STUDY 9073 05:24:57,229 --> 05:24:58,797 WITH FLOWING INTO THAT. 9074 05:24:58,797 --> 05:24:59,531 THERE'S 10 CENTERS 9075 05:24:59,531 --> 05:25:00,165 PARTICIPATING. 9076 05:25:00,165 --> 05:25:01,733 I'LL TALK ABOUT THOSE SLIDES IN 9077 05:25:01,733 --> 05:25:04,470 A SECOND, NOT ALL OF THEM HAVE 9078 05:25:04,470 --> 05:25:05,037 DATA FLOWING AT THE MOMENT. 9079 05:25:05,037 --> 05:25:08,373 THEN WE HAVE DATA FROM SAREPTA'S 9080 05:25:08,373 --> 05:25:09,842 EVOLVE REGISTRY WHICH IS FOR 9081 05:25:09,842 --> 05:25:11,310 THEIR THREE APPROVED 9082 05:25:11,310 --> 05:25:12,878 EXON-SKIPPING THERAPIES, SO IT'S 9083 05:25:12,878 --> 05:25:14,513 THEIR POST MARKET SURVEILLANCE 9084 05:25:14,513 --> 05:25:16,181 DATA FLOWING INTO THE 9085 05:25:16,181 --> 05:25:16,615 INTERCHANGE AS WELL. 9086 05:25:16,615 --> 05:25:17,282 SO WE HOPE THIS IS A TOOL THAT 9087 05:25:17,282 --> 05:25:19,518 CAN BE USED AS WE CONTINUE TO 9088 05:25:19,518 --> 05:25:22,154 HAVE APPROVALS IN THE DUCHENNE 9089 05:25:22,154 --> 05:25:25,591 SPACE. 9090 05:25:25,591 --> 05:25:27,960 SO ALL OF THE DATA IN HERE IS 9091 05:25:27,960 --> 05:25:28,460 SECURED. 9092 05:25:28,460 --> 05:25:29,528 EVERYBODY WHO'S CONTRIBUTING 9093 05:25:29,528 --> 05:25:31,597 DATA OWNS THEIR OWN DATA, SO 9094 05:25:31,597 --> 05:25:34,032 DATA SAFETY, PRIVACY IS 9095 05:25:34,032 --> 05:25:35,100 OBVIOUSLY PARAMOUNT, AND THERE'S 9096 05:25:35,100 --> 05:25:36,702 GATE KEEPING SO THAT YOU CAN'T 9097 05:25:36,702 --> 05:25:37,636 ACCESS DATA THAT DOESN'T BELONG 9098 05:25:37,636 --> 05:25:39,238 TO YOU. 9099 05:25:39,238 --> 05:25:41,773 THIS IS KIND OF OWE SCHEMATIC OF 9100 05:25:41,773 --> 05:25:43,475 HOW THIS TYPICALLY FLOWS. 9101 05:25:43,475 --> 05:25:44,409 YOU HAVE THESE INDIVIDUAL TYPE 9102 05:25:44,409 --> 05:25:46,645 OF DATA MARTS, WHETHER IT'S 9103 05:25:46,645 --> 05:25:49,681 RPROs OR THE DATA FROM SITES 9104 05:25:49,681 --> 05:25:50,749 FROM THE ELECTRONIC HEALTH 9105 05:25:50,749 --> 05:25:51,850 RECORD, AND ALL OF IT CAN BE 9106 05:25:51,850 --> 05:25:53,385 PULLED INTO THIS INTERCHANGE 9107 05:25:53,385 --> 05:25:55,988 HUB, AND EVENTUALLY USED FOR 9108 05:25:55,988 --> 05:25:57,389 DOING SOME RESEARCH AND 9109 05:25:57,389 --> 05:26:01,360 ANALYTICS AND WE'RE HOPEFUL THAT 9110 05:26:01,360 --> 05:26:02,861 THIS ALLOWS US TO REALLY GET A 9111 05:26:02,861 --> 05:26:03,996 BETTER GRASP OF THE DISEASE AND 9112 05:26:03,996 --> 05:26:05,097 UNDERSTANDING AS WE HAVE 9113 05:26:05,097 --> 05:26:06,098 APPROVED THERAPIES KIND OF WHAT 9114 05:26:06,098 --> 05:26:07,766 IS HAPPENING AND WHAT THE CHANGE 9115 05:26:07,766 --> 05:26:09,168 IN OUR NATURAL HISTORY LOOKS 9116 05:26:09,168 --> 05:26:14,139 LIKE. 9117 05:26:14,139 --> 05:26:15,707 SO AS PART OF THIS I MENTIONED 9118 05:26:15,707 --> 05:26:17,209 WE HAVE AN ELECTRONIC HEALTH 9119 05:26:17,209 --> 05:26:17,543 RECORD STUDY. 9120 05:26:17,543 --> 05:26:21,480 SO WE HAVE BEEN WORKING TO SET 9121 05:26:21,480 --> 05:26:24,283 UP EXTRACTION OF ELECTRONIC 9122 05:26:24,283 --> 05:26:25,851 HEALTH RECORDS AUTOMATED FROM 9123 05:26:25,851 --> 05:26:27,586 SOME OF OUR CERTIFIED DUCHENNE 9124 05:26:27,586 --> 05:26:28,954 CARE CENTERS. 9125 05:26:28,954 --> 05:26:32,658 SO THESE ARE THE FIRST COHORTS 9126 05:26:32,658 --> 05:26:35,861 IN OUR EHR STUDY, SO ARKANSAS 9127 05:26:35,861 --> 05:26:37,596 CHILDREN'S HIGHLIGHTED IN RED 9128 05:26:37,596 --> 05:26:39,264 THERE HAS DATA -- THEY'RE 9129 05:26:39,264 --> 05:26:40,799 CONSENTING PATIENTS AND WE HAVE 9130 05:26:40,799 --> 05:26:41,266 DATA FLOWING INTO THE 9131 05:26:41,266 --> 05:26:42,067 INTERCHANGE. 9132 05:26:42,067 --> 05:26:43,202 AND THEN DUKE IS THE OTHER SITE 9133 05:26:43,202 --> 05:26:46,638 THAT IS ACTIVELY CONSENTING 9134 05:26:46,638 --> 05:26:48,740 PATIENTS AND DATA SHOULD BE 9135 05:26:48,740 --> 05:26:49,675 FLOWING SOON, AND THEN ALL OF 9136 05:26:49,675 --> 05:26:50,909 THE OTHER SITES MARKED ON THIS 9137 05:26:50,909 --> 05:26:53,345 MAP ARE AT SOME STAGE OF KIND OF 9138 05:26:53,345 --> 05:26:55,914 CONTRACTING AND SETTING UP THE 9139 05:26:55,914 --> 05:26:56,682 DATA INFRASTRUCTURE. 9140 05:26:56,682 --> 05:26:58,817 BUT REALLY WHAT WE'RE WORKING TO 9141 05:26:58,817 --> 05:26:59,618 DO IS TRY AND TAKE SOME OF THE 9142 05:26:59,618 --> 05:27:01,019 BURDEN OFF OUR CLINICIANS AND 9143 05:27:01,019 --> 05:27:03,689 OUR NETWORK FROM HAVING TO 9144 05:27:03,689 --> 05:27:07,226 HAND-ENTER DATA AS WE HAVE 9145 05:27:07,226 --> 05:27:09,628 DIFFERENT POST MARKET STUDIES 9146 05:27:09,628 --> 05:27:10,829 ONGOING, SO TAKING THE DATA 9147 05:27:10,829 --> 05:27:13,532 RIGHT FROM THE EHR INTO THE 9148 05:27:13,532 --> 05:27:14,399 INTERCHANGE, THEN WE HAVE 9149 05:27:14,399 --> 05:27:15,300 ANOTHER PROJECT ONGOING WITH 9150 05:27:15,300 --> 05:27:18,036 THIS, LOOKING AT NATURAL 9151 05:27:18,036 --> 05:27:18,937 LANGUAGE PROCESSING BECAUSE WE 9152 05:27:18,937 --> 05:27:22,341 KNOW THAT A LOT OF THE IMPORTANT 9153 05:27:22,341 --> 05:27:24,076 DATA ENDS UP IN THE NOTES, SO WE 9154 05:27:24,076 --> 05:27:24,710 WANT TO MAKE SURE THAT WE CAN 9155 05:27:24,710 --> 05:27:26,645 GET TO THAT. 9156 05:27:26,645 --> 05:27:28,013 WE DON'T WANT THAT DATA TO BE 9157 05:27:28,013 --> 05:27:29,381 LOST SO WE HAVE AN ONGOING 9158 05:27:29,381 --> 05:27:30,449 PROJECT TO TRY AND TEASE OUT 9159 05:27:30,449 --> 05:27:33,852 SOME OF THAT AS WELL. 9160 05:27:33,852 --> 05:27:36,855 AND SO THIS IS JUST A SNAPSHOT 9161 05:27:36,855 --> 05:27:38,523 OF THE CURRENT DRUG DEVELOPMENT 9162 05:27:38,523 --> 05:27:40,492 PIPELINE IN DUCHENNE. 9163 05:27:40,492 --> 05:27:43,395 SO WE CURRENTLY HAVE SEVEN 9164 05:27:43,395 --> 05:27:46,598 APPROVED THERAPIES, FOUR OF 9165 05:27:46,598 --> 05:27:48,400 WHICH ARE EXON SKIPPING, SO 9166 05:27:48,400 --> 05:27:49,167 MUTATION-SPECIFIC THERAPIES THAT 9167 05:27:49,167 --> 05:27:51,270 COVER ABOUT 30% OF OUR 9168 05:27:51,270 --> 05:27:52,537 POPULATION. 9169 05:27:52,537 --> 05:27:56,575 TWO CORTICOSTEROIDS AND THEN THE 9170 05:27:56,575 --> 05:27:58,176 GENE THERAPY PRODUCT, AND THEN 9171 05:27:58,176 --> 05:28:00,779 WE'RE HOPEFUL COME MARCH THAT WE 9172 05:28:00,779 --> 05:28:02,514 WILL HAVE OUR EIGHTH APPROVAL 9173 05:28:02,514 --> 05:28:12,424 WITH JI VIF STAT, PADUFA DATE 9174 05:28:12,424 --> 05:28:13,492 GOT PUSHED TO MARCH. 9175 05:28:13,492 --> 05:28:15,727 WE ARE STARTING TO HAVE THIS 9176 05:28:15,727 --> 05:28:18,830 REALLY ROBUST PIPELINE MOVE FROM 9177 05:28:18,830 --> 05:28:19,998 A LOT OF CLINICAL TRIALS TO 9178 05:28:19,998 --> 05:28:21,433 APPROVALS, AND THAT IS GOING TO 9179 05:28:21,433 --> 05:28:22,501 ALTER A NUMBER OF THINGS. 9180 05:28:22,501 --> 05:28:24,202 IT'S GOING TO ALTER THE CLINICAL 9181 05:28:24,202 --> 05:28:25,137 TRIAL LANDSCAPE, WE HAVE WORK TO 9182 05:28:25,137 --> 05:28:26,471 DO TO MAKE SURE THAT PATIENTS 9183 05:28:26,471 --> 05:28:28,106 HAVE ACCESS TO ALL OF THESE 9184 05:28:28,106 --> 05:28:29,608 THERAPIES IF THEY ARE AVAILABLE 9185 05:28:29,608 --> 05:28:31,777 FOR THEM. 9186 05:28:31,777 --> 05:28:33,211 AND THEN OF COURSE UNDERSTANDING 9187 05:28:33,211 --> 05:28:34,112 WHAT COMBINATION THERAPY LOOKS 9188 05:28:34,112 --> 05:28:35,647 LIKE AND IS IT SAFE AND HOW ARE 9189 05:28:35,647 --> 05:28:38,483 WE TRACKING PATIENTS. 9190 05:28:38,483 --> 05:28:39,918 SO PART OF THIS EVOLVING 9191 05:28:39,918 --> 05:28:43,655 LANDSCAPE RECENTLY LED US TO 9192 05:28:43,655 --> 05:28:45,991 UPDATE THE GUIDANCE FOR DRUG 9193 05:28:45,991 --> 05:28:46,992 DEVELOPERS THAT PPMD HELPED TO 9194 05:28:46,992 --> 05:28:53,532 LADY ELEADEARLY IN 2014 THAT LEE 9195 05:28:53,532 --> 05:28:54,299 FDA'S DEVELOPMENT OF THAT 9196 05:28:54,299 --> 05:28:54,900 GUIDANCE. 9197 05:28:54,900 --> 05:28:56,702 SO WE WERE KIND OF LOOKING AND 9198 05:28:56,702 --> 05:28:57,369 REALIZED THIS WAS GETTING TO BE 9199 05:28:57,369 --> 05:28:58,403 A BIT OUT OF DATE IN TERMS OF 9200 05:28:58,403 --> 05:29:01,606 THE ALL OF THE ADVANCEMENTS THAT 9201 05:29:01,606 --> 05:29:02,007 HAD GONE UNDERWAY. 9202 05:29:02,007 --> 05:29:03,842 SO WE OPTED IN 2021 TO START 9203 05:29:03,842 --> 05:29:05,210 UPDATING THIS GUIDANCE. 9204 05:29:05,210 --> 05:29:07,713 MANY OF THE INDIVIDUALS ON THIS 9205 05:29:07,713 --> 05:29:08,447 CALL IN THE DUCHENNE SPACE 9206 05:29:08,447 --> 05:29:09,581 PARTICIPATED IN THIS PROCESS AND 9207 05:29:09,581 --> 05:29:10,615 WE'RE GRATEFUL FOR IT AND THIS 9208 05:29:10,615 --> 05:29:12,384 IS JUST KIND OF AN OVERVIEW OF 9209 05:29:12,384 --> 05:29:13,685 THE STRUCTURE. 9210 05:29:13,685 --> 05:29:15,053 WE BROUGHT BACK OUR STEERING 9211 05:29:15,053 --> 05:29:16,254 COMMITTEE FOR IT AND WE HAD VERY 9212 05:29:16,254 --> 05:29:17,789 SPECIFIC WORKING GROUPS FOR A 9213 05:29:17,789 --> 05:29:19,558 NUMBER OF DIFFERENT AREAS THAT 9214 05:29:19,558 --> 05:29:21,860 WE UPDATED, AND TWO OF THOSE NEW 9215 05:29:21,860 --> 05:29:25,330 AREAS THAT WE HAD TO ADD TO THIS 9216 05:29:25,330 --> 05:29:26,131 GUIDANCE WAS CARDIAC, BECAUSE 9217 05:29:26,131 --> 05:29:28,567 THAT WAS NOT IN THE INITIAL 9218 05:29:28,567 --> 05:29:30,469 GUIDANCE, AND GENE THERAPY. 9219 05:29:30,469 --> 05:29:33,405 AS THAT IS, AGAIN, A REALLY 9220 05:29:33,405 --> 05:29:37,576 EVOLVING SPACE IN OUR FIELD. 9221 05:29:37,576 --> 05:29:39,077 SO WE WENT THROUGH THE PROCESS 9222 05:29:39,077 --> 05:29:41,947 OF UPDATING THIS, LIKE I SAID, A 9223 05:29:41,947 --> 05:29:43,148 LOT OF GREAT CONTRIBUTION. 9224 05:29:43,148 --> 05:29:44,683 WE DID SUBMIT TO THE FDA. 9225 05:29:44,683 --> 05:29:46,651 THEY'RE NOT CURRENTLY GOING TO 9226 05:29:46,651 --> 05:29:48,754 UPDATE THEIR GUIDANCE, SO WE ARE 9227 05:29:48,754 --> 05:29:51,123 ACTUALLY GOING TO PUBLISH THE 9228 05:29:51,123 --> 05:29:52,691 ENTIRE DOCUMENT. 9229 05:29:52,691 --> 05:29:53,658 AND THEN WE'VE TALKED WITH OUR 9230 05:29:53,658 --> 05:29:54,493 STEERING COMMITTEE ABOUT USING 9231 05:29:54,493 --> 05:29:56,094 THIS AS A LIVING DOCUMENT MOVING 9232 05:29:56,094 --> 05:29:58,530 FORWARD, SO RATHER THAN HAVING 9233 05:29:58,530 --> 05:29:59,865 EVERY FIVE TO SEVEN YEARS THIS 9234 05:29:59,865 --> 05:30:02,968 KIND OF MAMMOTH TASK OF UPDATING 9235 05:30:02,968 --> 05:30:05,303 ALL OF THE SCIENCE THAT'S GOING 9236 05:30:05,303 --> 05:30:06,338 ON, WE WANT TO BE ABLE TO BE A 9237 05:30:06,338 --> 05:30:08,707 BIT MORE NIMBLE AND LOOK AT 9238 05:30:08,707 --> 05:30:10,575 AREAS AS THEY ARE EVOLVING AND 9239 05:30:10,575 --> 05:30:13,011 SEE IF WE CAN PROVIDE GUIDANCE 9240 05:30:13,011 --> 05:30:14,413 AND TURN AROUND MORE QUICKLY. 9241 05:30:14,413 --> 05:30:18,683 SO RAMONA AND BILL BOTH TALKED 9242 05:30:18,683 --> 05:30:19,351 ABOUT THESE DRUG UTILITY TOOLS 9243 05:30:19,351 --> 05:30:21,219 THAT ARE BEING DEVELOPED, THESE 9244 05:30:21,219 --> 05:30:25,557 MODELING SIMULATION TOOLS. 9245 05:30:25,557 --> 05:30:27,559 AS THOSE ARE APPROVED, WE WANT 9246 05:30:27,559 --> 05:30:29,060 TO MAKE SURE WE INCORPORATE HOW 9247 05:30:29,060 --> 05:30:31,963 DO YOU USE THOSE, HOW DO DRUG 9248 05:30:31,963 --> 05:30:32,664 DEVELOPERS COMING INTO THE SPACE 9249 05:30:32,664 --> 05:30:33,565 BETTER DESIGN CLINICAL TRIALS. 9250 05:30:33,565 --> 05:30:34,966 SO THAT'S KIND OF OUR THOUGHT 9251 05:30:34,966 --> 05:30:37,035 WITH THE GRAY DANCE DOCUMENT. 9252 05:30:37,035 --> 05:30:40,572 AS WE CONTINUE TO MOVE FORWARD. 9253 05:30:40,572 --> 05:30:43,041 ANOTHER AREA THAT WE CONTINUE TO 9254 05:30:43,041 --> 05:30:45,744 WORK IN IS WITH OUR DUCHENNE 9255 05:30:45,744 --> 05:30:46,244 DEVELOPMENT ROUNDTABLE. 9256 05:30:46,244 --> 05:30:47,145 THIS IS A PRECOMPETITIVE SPACE. 9257 05:30:47,145 --> 05:30:48,246 WE HAVE A NUMBER OF COMPANIES 9258 05:30:48,246 --> 05:30:50,115 THAT ARE WORKING IN DUCHENNE AND 9259 05:30:50,115 --> 05:30:50,882 BECKER COME TOGETHER TO TALK 9260 05:30:50,882 --> 05:30:52,984 ABOUT CHALLENGES IN DRUG 9261 05:30:52,984 --> 05:30:53,285 DEVELOPMENT. 9262 05:30:53,285 --> 05:30:55,187 AND THIS HAS BEEN A REALLY GREAT 9263 05:30:55,187 --> 05:30:56,254 SOURCE FOR US FOR LAUNCHING 9264 05:30:56,254 --> 05:30:58,256 PROGRAMS THAT PPMD HAS WORKED ON 9265 05:30:58,256 --> 05:31:00,725 SUCH AS SOME OF THE NEWBORN 9266 05:31:00,725 --> 05:31:01,460 SCREENING PILOT THAT WE DID IN 9267 05:31:01,460 --> 05:31:03,662 NEW YORK STATE, THE ICD-10 CODE, 9268 05:31:03,662 --> 05:31:06,064 SOME OF OUR PATIENT PREFERENCE 9269 05:31:06,064 --> 05:31:06,665 STUDIES, EVEN SOME OF THE WORK 9270 05:31:06,665 --> 05:31:09,534 WITH THE PLATFORM TRIAL DESIGN. 9271 05:31:09,534 --> 05:31:10,669 AND SO THIS IS AN AREA THAT 9272 05:31:10,669 --> 05:31:12,237 WE'RE CONTINUING TO UTILIZE THIS 9273 05:31:12,237 --> 05:31:13,738 GROUP OF STAKEHOLDERS TO TRY AND 9274 05:31:13,738 --> 05:31:15,073 ADDRESS CHALLENGES THAT 9275 05:31:15,073 --> 05:31:15,907 EVERYBODY FACES. 9276 05:31:15,907 --> 05:31:17,609 SO WE HAD SOME REALLY GREAT 9277 05:31:17,609 --> 05:31:19,744 RECENT MEETINGS. 9278 05:31:19,744 --> 05:31:21,980 REANTLY ON IMAGING BIOMARKERS 9279 05:31:21,980 --> 05:31:24,249 AND CLINICAL TRIALS, SOME OF THE 9280 05:31:24,249 --> 05:31:26,384 WORK THAT'S GOING ON FROM THE 9281 05:31:26,384 --> 05:31:28,186 IMAGING DND GROUP AND SHOWING 9282 05:31:28,186 --> 05:31:30,355 HOW THAT CAN BE BEST UTILIZED 9283 05:31:30,355 --> 05:31:30,755 FOR TRIAL DESIGN. 9284 05:31:30,755 --> 05:31:32,257 AND THEN MORE RECENTLY, JUST 9285 05:31:32,257 --> 05:31:34,059 THIS PAST NOVEMBER, WE HAD A 9286 05:31:34,059 --> 05:31:35,994 MEETING ON ACCESS AND TRIAL 9287 05:31:35,994 --> 05:31:37,128 DESIGN FOR COMBINATION THERAPY. 9288 05:31:37,128 --> 05:31:40,866 AGAIN, TRYING TO LOOK AHEAD AND 9289 05:31:40,866 --> 05:31:42,701 RECOGNIZE THAT A LOT OF PATIENTS 9290 05:31:42,701 --> 05:31:43,535 IN OUR COMMUNITY ARE GOING TO 9291 05:31:43,535 --> 05:31:49,441 HAVE ACCESS TO THERAPIES THAT 9292 05:31:49,441 --> 05:31:52,210 RESTORE DYSTROPHIN IN SOME FORM, 9293 05:31:52,210 --> 05:31:54,746 WHETHER THAT'S EXON SKIPPING OR 9294 05:31:54,746 --> 05:31:56,114 A MICRO DYSTROPHIN OR OTHER 9295 05:31:56,114 --> 05:31:56,748 THERAPIES. 9296 05:31:56,748 --> 05:31:57,949 SO WHAT DOES THAT DO TO THE 9297 05:31:57,949 --> 05:31:58,884 TRIAL LANDSCAPE IF A NUMBER OF 9298 05:31:58,884 --> 05:32:00,485 OUR PATIENTS ARE ON THESE 9299 05:32:00,485 --> 05:32:01,386 THERAPIES, HOW DOES THAT CHANGE 9300 05:32:01,386 --> 05:32:04,022 NATURAL HISTORY, HOW DO WE THINK 9301 05:32:04,022 --> 05:32:05,223 ABOUT DESIGNING CLINICAL TRIALS 9302 05:32:05,223 --> 05:32:06,791 SO WE CAN STILL ENROLL AND 9303 05:32:06,791 --> 05:32:08,693 ENSURE ACCESSIBILITY OF TRIALS 9304 05:32:08,693 --> 05:32:08,994 TO PATIENTS. 9305 05:32:08,994 --> 05:32:10,161 AND THEN FROM THE PAYOR SIDE, 9306 05:32:10,161 --> 05:32:11,630 HOW DO WE MAKE SURE THAT WE'RE 9307 05:32:11,630 --> 05:32:15,300 COLLECTING RELEVANT DATA TO SHOW 9308 05:32:15,300 --> 05:32:17,969 THAT THESE DRUGS CAN BE USED IN 9309 05:32:17,969 --> 05:32:18,737 COMBINATION, THAT THEY'RE SAFE, 9310 05:32:18,737 --> 05:32:20,572 THAT THEY'RE EFFICACIOUS, AND 9311 05:32:20,572 --> 05:32:21,940 THAT THEY'RE COVERED. 9312 05:32:21,940 --> 05:32:23,508 AT THE END OF THE DAY, HAVING A 9313 05:32:23,508 --> 05:32:24,609 BUNCH OF APPROVED THERAPIES IF 9314 05:32:24,609 --> 05:32:26,211 YOU DON'T HAVE ACCESS TO THEM, 9315 05:32:26,211 --> 05:32:26,978 THAT'S A PROBLEM AND THAT'S 9316 05:32:26,978 --> 05:32:27,946 SOMETHING WE WANT TO MAKE SURE 9317 05:32:27,946 --> 05:32:29,981 WE'RE KEEPING AN EYE TOWARDS. 9318 05:32:29,981 --> 05:32:31,416 AND THEN SOME OF THE MEETINGS 9319 05:32:31,416 --> 05:32:32,317 THAT WE'RE LOOKING TO HOLD KIND 9320 05:32:32,317 --> 05:32:34,653 OF IN THE NEXT YEAR, WE HEARD A 9321 05:32:34,653 --> 05:32:43,061 LITTLE BIT ABOUT STRIDE -- 95TH 9322 05:32:43,061 --> 05:32:43,995 PERCENTILE STRIDE VELOCITY, 9323 05:32:43,995 --> 05:32:45,297 TRYING TO GET A BETTER 9324 05:32:45,297 --> 05:32:46,698 UNDERSTANDING OF WHAT THOSE ARE 9325 05:32:46,698 --> 05:32:47,766 AND HOW WE CAN UTILIZE THEM. 9326 05:32:47,766 --> 05:32:49,701 THEN AS WELL SOME OF THE 9327 05:32:49,701 --> 05:32:51,236 ADVANCEMENTS WE'VE SEEN IN THE 9328 05:32:51,236 --> 05:32:52,671 PRE-CLINICAL MODELS AND HOW WE 9329 05:32:52,671 --> 05:32:53,438 CAN IMPROVE TRANSLATION OF 9330 05:32:53,438 --> 05:32:59,311 DRUGS. 9331 05:32:59,311 --> 05:33:00,412 THEN ONE BIG PIECE WE'VE WORKED 9332 05:33:00,412 --> 05:33:02,113 ON FOR A NUMBER OF YEARS HAS 9333 05:33:02,113 --> 05:33:02,681 BEEN THE DUCHENNE PLATFORM 9334 05:33:02,681 --> 05:33:02,948 TRIAL. 9335 05:33:02,948 --> 05:33:04,683 I KNOW THAT WAS SOMETHING JEN 9336 05:33:04,683 --> 05:33:06,751 MENTIONED IN HER DISCUSSION WITH 9337 05:33:06,751 --> 05:33:08,720 LIANNA WAS LOOKING AT PLATFORM 9338 05:33:08,720 --> 05:33:10,255 TRIALS IN COMBINATION THERAPIES. 9339 05:33:10,255 --> 05:33:12,490 SO WE HAVE BEEN WORKING ON THIS 9340 05:33:12,490 --> 05:33:13,091 PLATFORM TRIAL ORIGINALLY, WE 9341 05:33:13,091 --> 05:33:16,528 HAD A BIG STAKEHOLDER MEETING IN 9342 05:33:16,528 --> 05:33:17,829 2019. 9343 05:33:17,829 --> 05:33:19,431 WHERE WE TOOK IN FEEDBACK ABOUT 9344 05:33:19,431 --> 05:33:20,031 A MASTER PROTOCOL. 9345 05:33:20,031 --> 05:33:21,366 WE TOOK THAT TO THE FDA AND GOT 9346 05:33:21,366 --> 05:33:24,803 SOME REALLY GREAT FEEDBACK IN 9347 05:33:24,803 --> 05:33:25,503 MARCH OF 2021 AND HAVEN'T BEEN 9348 05:33:25,503 --> 05:33:27,205 ABLE TO IMPLEMENT THAT, SO WE 9349 05:33:27,205 --> 05:33:30,609 HAVE A PROTOCOL IN HAND. 9350 05:33:30,609 --> 05:33:31,242 NOW, WHEN THIS WAS BEING WORKED 9351 05:33:31,242 --> 05:33:32,243 ON, THE LANDSCAPE WAS A BIT 9352 05:33:32,243 --> 05:33:33,712 DIFFERENT AND I THINK OUR 9353 05:33:33,712 --> 05:33:35,347 ORIGINAL INTENTION WAS THIS WAS 9354 05:33:35,347 --> 05:33:37,549 GOING TO BE A LANDING SPOT FOR A 9355 05:33:37,549 --> 05:33:40,752 LOT OF SMALL MOLECULES THAT WERE 9356 05:33:40,752 --> 05:33:42,120 TARGETING MORE DOWNSTREAM 9357 05:33:42,120 --> 05:33:43,888 ASPECTS OF DUCHENNE. 9358 05:33:43,888 --> 05:33:46,558 AND WE ARE NOW LOOKING AND 9359 05:33:46,558 --> 05:33:47,192 INVESTIGATING IS THIS SOMETHING 9360 05:33:47,192 --> 05:33:48,660 THAT COULD BE UTILIZED AS WE TRY 9361 05:33:48,660 --> 05:33:51,896 TO GET A BETTER UNDERSTANDING ON 9362 05:33:51,896 --> 05:33:52,897 POTENTIAL COMBINATION THERAPIES. 9363 05:33:52,897 --> 05:33:53,832 SO THIS IS SOMETHING WE'RE GOING 9364 05:33:53,832 --> 05:33:58,703 TO CONTINUE TO WORK WITH OUR 9365 05:33:58,703 --> 05:34:01,072 PARTNERS AND CRITICAL PATH 9366 05:34:01,072 --> 05:34:02,407 INSTITUTE HAS BEEN REALLY 9367 05:34:02,407 --> 05:34:03,642 HELPFUL IN THE DESIGN HERE AS WE 9368 05:34:03,642 --> 05:34:06,344 CONTINUE TO EXPLORE THIS. 9369 05:34:06,344 --> 05:34:07,579 I DID WANT TO TALK A LITTLE BIT 9370 05:34:07,579 --> 05:34:09,080 ABOUT SOME OF OUR ADVOCACY 9371 05:34:09,080 --> 05:34:09,414 EFFORTS. 9372 05:34:09,414 --> 05:34:11,750 SO EVERY YEAR WE HAVE OUR 9373 05:34:11,750 --> 05:34:12,651 ADVOCACY MEETING AT D.C. . 9374 05:34:12,651 --> 05:34:14,919 THIS YEAR IT GOING TO BE 9375 05:34:14,919 --> 05:34:16,688 MARCH 3RD THROUGH FIFTH AND IT 9376 05:34:16,688 --> 05:34:18,289 IS A REALLY GREAT FAMILY EVENT. 9377 05:34:18,289 --> 05:34:19,357 WE HAVE A LOT OF FAMILIES THAT 9378 05:34:19,357 --> 05:34:22,027 COME TO D.C. , AND IT'S NICE TOO 9379 05:34:22,027 --> 05:34:23,228 BECAUSE IT PROVIDES FAMILIES AN 9380 05:34:23,228 --> 05:34:24,496 OPPORTUNITY WHO MAYBE AREN'T THE 9381 05:34:24,496 --> 05:34:25,563 PRIMARY CAREGIVERS TO INTERACT 9382 05:34:25,563 --> 05:34:27,365 AND FEEL LIKE THEY'RE 9383 05:34:27,365 --> 05:34:28,366 CONTRIBUTING, SO WE GET A LOT OF 9384 05:34:28,366 --> 05:34:30,001 GRANDPARENTS, A LOT OF SIBLINGS 9385 05:34:30,001 --> 05:34:30,335 THERE. 9386 05:34:30,335 --> 05:34:32,604 AND THEY GO, THEY GET TO MEET 9387 05:34:32,604 --> 05:34:33,204 THEIR REPRESENTATIVES, TELL 9388 05:34:33,204 --> 05:34:36,241 THEIR STORIES, AND HELP US AS WE 9389 05:34:36,241 --> 05:34:40,111 ASK FOR APPROPRIATIONS. 9390 05:34:40,111 --> 05:34:40,745 SO A NUMBER OF THINGS THAT WE'VE 9391 05:34:40,745 --> 05:34:42,113 BEEN WORKING ON THE PAST FEW 9392 05:34:42,113 --> 05:34:44,182 YEARS IN PARTNERSHIP WITH A 9393 05:34:44,182 --> 05:34:45,884 NUMBER OF OTHER GROUPS IN THE 9394 05:34:45,884 --> 05:34:47,719 RARE DISEASE SPACE. 9395 05:34:47,719 --> 05:34:49,054 THINGS LIKE THE BENEFIT ACT, 9396 05:34:49,054 --> 05:34:52,057 WE'RE GOING TO CONTINUE TO WORK 9397 05:34:52,057 --> 05:34:54,392 AND SUPPORT NEWBORN SCREENING IN 9398 05:34:54,392 --> 05:34:56,061 ADDITION TO THE RUSP AND STATE 9399 05:34:56,061 --> 05:34:56,661 IMPLEMENTATION AS NIKI WAS 9400 05:34:56,661 --> 05:34:58,563 TALKING ABOUT. 9401 05:34:58,563 --> 05:35:00,231 WE'RE GOING TO, AGAIN, TRY TO 9402 05:35:00,231 --> 05:35:01,666 WORK AND ENSURE COMBINATION 9403 05:35:01,666 --> 05:35:04,636 THERAPY ACCESS FOR FAMILIES. 9404 05:35:04,636 --> 05:35:05,704 OUR ADULT ADVISORY COMMITTEE HAS 9405 05:35:05,704 --> 05:35:07,338 BEEN WORKING WITH OUR DIRECTOR 9406 05:35:07,338 --> 05:35:08,707 OF ADVOCACY ON A NUMBER OF 9407 05:35:08,707 --> 05:35:09,708 DISABILITY AND INCLUSION 9408 05:35:09,708 --> 05:35:10,875 POLICIES. 9409 05:35:10,875 --> 05:35:12,077 AND THEN WE ARE PILOTING SOME 9410 05:35:12,077 --> 05:35:13,945 STATE LEVEL ADVOCACY TRAINING 9411 05:35:13,945 --> 05:35:15,380 WITH OUR CONNECT GROUP FAMILY 9412 05:35:15,380 --> 05:35:16,481 LEADERS. 9413 05:35:16,481 --> 05:35:18,616 SO IN STATES WE HAVE SOME OF OUR 9414 05:35:18,616 --> 05:35:19,417 LOCAL COMMUNITY THAT ARE THERE 9415 05:35:19,417 --> 05:35:22,520 TO HELP FACILITATE COMMUNITY AND 9416 05:35:22,520 --> 05:35:24,222 CONNECTION AND SOME OF THEM HAVE 9417 05:35:24,222 --> 05:35:26,024 EXPRESSED MORE INTEREST IN 9418 05:35:26,024 --> 05:35:27,492 INTERACTING WITH THEIR STATE 9419 05:35:27,492 --> 05:35:29,327 LEGISLATION AND SO WE'RE HOPING 9420 05:35:29,327 --> 05:35:32,297 TO TRAIN THEM TO ADVOCATE AT 9421 05:35:32,297 --> 05:35:33,431 THAT STATE LEVEL. 9422 05:35:33,431 --> 05:35:35,266 NOW I WANTED TO TOUCH A LITTLE 9423 05:35:35,266 --> 05:35:38,136 BIT ON SOME MORE OF OUR 9424 05:35:38,136 --> 05:35:40,438 RESEARCH-SPECIFIC TOPICS. 9425 05:35:40,438 --> 05:35:42,574 SO AT PPMD, WE FUND BASIC 9426 05:35:42,574 --> 05:35:45,610 RESEARCH, PRE-CLINICAL RESEARCH, 9427 05:35:45,610 --> 05:35:46,177 SOME CLINICAL TRIALS, WE'VE 9428 05:35:46,177 --> 05:35:48,113 STARTED TO DO SOME VENTURE 9429 05:35:48,113 --> 05:35:49,147 PHILANTHROPY, BUT OUR CURRENT 9430 05:35:49,147 --> 05:35:51,382 STRATEGY, WE HAVE KIND OF THREE 9431 05:35:51,382 --> 05:35:52,283 MAIN INITIATIVES WHERE THE 9432 05:35:52,283 --> 05:35:54,419 MAJORITY OF OUR FUNDING, OUR 9433 05:35:54,419 --> 05:35:55,620 RESEARCH FUNDING IS GOING, 9434 05:35:55,620 --> 05:35:57,222 ALTHOUGH LIKE I SAID, WE DO KIND 9435 05:35:57,222 --> 05:35:58,056 OF GO OUTSIDE OF THIS AS WELL. 9436 05:35:58,056 --> 05:36:00,191 SO WE HAVE OUR GENE THERAPY 9437 05:36:00,191 --> 05:36:02,127 INITIATIVE THAT WAS LAUNCHED IN 9438 05:36:02,127 --> 05:36:02,594 2017. 9439 05:36:02,594 --> 05:36:04,095 AND THIS WAS LAUNCHED WITH THE 9440 05:36:04,095 --> 05:36:06,030 INITIAL FUNDING THAT WE PROVIDED 9441 05:36:06,030 --> 05:36:09,400 TO DR. JERRY MENDELL FOR THE 9442 05:36:09,400 --> 05:36:11,669 FIRST SYSTEMIC DELIVERY OF MICRO 9443 05:36:11,669 --> 05:36:13,972 DYSTROPHIN WHICH LED TO THE 9444 05:36:13,972 --> 05:36:14,606 LICENSING WITH SAREPTA AND THIS 9445 05:36:14,606 --> 05:36:17,375 APPROVAL THAT WE HAD IN JUNE. 9446 05:36:17,375 --> 05:36:19,577 MORE RECENTLY, WE HAD SOME 9447 05:36:19,577 --> 05:36:20,612 AWARDS AS ANGELA JUST TALKED 9448 05:36:20,612 --> 05:36:23,148 ABOUT, WE WERE REALLY GREAT TO 9449 05:36:23,148 --> 05:36:25,950 WORK TOGETHER WITH MDA AND CURE 9450 05:36:25,950 --> 05:36:29,087 DUCHENNE TO WORK ON THIS 9451 05:36:29,087 --> 05:36:35,226 REPURPOSING STUDY OF VYVGART. 9452 05:36:35,226 --> 05:36:36,661 -- WE PROVIDED SOME BRIDGE 9453 05:36:36,661 --> 05:36:40,765 FUNDING TO DR. CARRIE MICELI ON 9454 05:36:40,765 --> 05:36:42,600 SOME CHARACTERIZATION OF 9455 05:36:42,600 --> 05:36:45,270 DYSTROPHIN RESTORATION FOR 9456 05:36:45,270 --> 05:36:45,970 INDIVIDUALS. 9457 05:36:45,970 --> 05:36:49,140 SOME ADDITIONAL SUPPLEMENTAL 9458 05:36:49,140 --> 05:36:50,408 FUNDING TO THE UNIVERSITY OF 9459 05:36:50,408 --> 05:36:51,609 FLORIDA AND THAT WELLSTONE 9460 05:36:51,609 --> 05:36:54,345 CENTER AND THEIR COLLABORATORS 9461 05:36:54,345 --> 05:36:56,781 TO SUPPORT SOME POSTDOCTORAL 9462 05:36:56,781 --> 05:36:58,249 FELLOWS AND EXPANSION OF SOME 9463 05:36:58,249 --> 05:37:00,685 ANIMAL COLONIES AS THEY EXPLORE 9464 05:37:00,685 --> 05:37:03,922 NOVEL MICRO DYSTROPHINS IN 9465 05:37:03,922 --> 05:37:04,489 COMBINATION THERAPY AND THE 9466 05:37:04,489 --> 05:37:05,590 IMPACT OF GENE THERAPY ON THE 9467 05:37:05,590 --> 05:37:05,957 HEART. 9468 05:37:05,957 --> 05:37:07,425 AND A COLLABORATION WITH 9469 05:37:07,425 --> 05:37:11,863 DUCHENNE U.K. TO DR. NAGARAJU TO 9470 05:37:11,863 --> 05:37:15,934 LOOK AT SOME INVESTIGATION 9471 05:37:15,934 --> 05:37:16,601 IMPROVED THERAPIES FOR 9472 05:37:16,601 --> 05:37:19,537 INTERACTING AND MODULATING THE 9473 05:37:19,537 --> 05:37:20,939 INNATE IMMUNITY. 9474 05:37:20,939 --> 05:37:23,575 AND WE'RE GOING TO CONTINUE TO 9475 05:37:23,575 --> 05:37:25,777 INVEST IN STRATEGYINGS THAT LOOK 9476 05:37:25,777 --> 05:37:26,911 TO INCREASE SAFETY FOR PATIENTS, 9477 05:37:26,911 --> 05:37:28,780 WAYS WE CAN ENHANCE DELIVERY SO 9478 05:37:28,780 --> 05:37:33,852 BOTH VIRAL AND NON-VIRAL, 9479 05:37:33,852 --> 05:37:35,854 EXPLORING NOVEL TRANS GENES. 9480 05:37:35,854 --> 05:37:38,623 ANGELA MENTIONED -- WE ALSO 9481 05:37:38,623 --> 05:37:42,093 PROVIDED SOME FUNDING TO, SO 9482 05:37:42,093 --> 05:37:42,727 TRYING TO REALLY MAKE SURE THAT 9483 05:37:42,727 --> 05:37:46,664 WE'RE IDENTIFYING THESE 9484 05:37:46,664 --> 05:37:47,732 POTENTIAL STRATEGIES THAT MIGHT 9485 05:37:47,732 --> 05:37:49,801 BE ABLE TO ENSURE MORE PATIENTS 9486 05:37:49,801 --> 05:37:52,770 CAN RECEIVE ACCESS TO THERAPY. 9487 05:37:52,770 --> 05:37:54,038 AS PART OF THIS AS WELL IS SOME 9488 05:37:54,038 --> 05:37:56,474 OF OUR BENEFIT RISK WORK THAT 9489 05:37:56,474 --> 05:37:58,476 WE'VE BEEN DOING, SO WE JUST 9490 05:37:58,476 --> 05:38:01,112 RECENTLY THIS YEAR COMPLETED OUR 9491 05:38:01,112 --> 05:38:03,047 UPDATED BENEFIT-RISK STUDY SO 9492 05:38:03,047 --> 05:38:04,082 THIS IS SOMETHING WE HAD 9493 05:38:04,082 --> 05:38:07,685 CONDUCTED IN 2017, PRIOR TO THE 9494 05:38:07,685 --> 05:38:10,121 FIRST SYSTEMIC DOSE OF GENE 9495 05:38:10,121 --> 05:38:10,655 THERAPY. 9496 05:38:10,655 --> 05:38:12,156 LOOKING AT BENEFIT RISK IN OUR 9497 05:38:12,156 --> 05:38:12,457 POPULATION. 9498 05:38:12,457 --> 05:38:13,658 NOW THAT WE'VE HAD MULTIPLE 9499 05:38:13,658 --> 05:38:15,827 TRIAL, WE'VE HAD TWO DEATH IN 9500 05:38:15,827 --> 05:38:16,427 THE DUCHENNE SPACE AND THERE'S 9501 05:38:16,427 --> 05:38:21,366 BEEN DEATHS IN OTHER GENE 9502 05:38:21,366 --> 05:38:25,770 THERAPY TRIALS. 9503 05:38:25,770 --> 05:38:28,907 WE WANTED TO GET A BETTER GRASP 9504 05:38:28,907 --> 05:38:30,875 OF OUR COMMUNITY'S OUTLOOK ON 9505 05:38:30,875 --> 05:38:35,013 GENE THERAPY SO WHI WE CONDUCTED 9506 05:38:35,013 --> 05:38:37,682 THESE STUDIES LOOKING AT -- AS 9507 05:38:37,682 --> 05:38:39,183 WELL AS MAXIMUM ACCEPTABLE RISK 9508 05:38:39,183 --> 05:38:41,286 OF DEATH AND PUBLICATIONS FOR 9509 05:38:41,286 --> 05:38:42,120 THIS ARE FORTHCOMING, BUT WHAT 9510 05:38:42,120 --> 05:38:44,589 WE DID FIND IS EVEN WITH 9511 05:38:44,589 --> 05:38:46,824 EVERYTHING ELSE GOING ON, OUR 9512 05:38:46,824 --> 05:38:48,626 COMMUNITY CONTINUES TO HAVE A 9513 05:38:48,626 --> 05:38:52,063 REALLY HIGH RISK TOLERANCE FOR 9514 05:38:52,063 --> 05:38:53,431 GENE THERAPY. 9515 05:38:53,431 --> 05:38:56,034 WHICH WAS IMPORTANT AND WE 9516 05:38:56,034 --> 05:39:00,138 SUBMITTED AS PART OF THE 9517 05:39:00,138 --> 05:39:04,709 ALZHEIMER'S DISEASE COM FOR 9518 05:39:04,709 --> 05:39:04,976 ELEVITIS. 9519 05:39:04,976 --> 05:39:06,844 THE OTHER TWO MAIN RESEARCH 9520 05:39:06,844 --> 05:39:08,913 INITIATIVES ARE OUR CARDIAC 9521 05:39:08,913 --> 05:39:09,213 INITIATIVE. 9522 05:39:09,213 --> 05:39:10,048 WHEN I WAS TALKING ABOUT THE 9523 05:39:10,048 --> 05:39:10,882 SPECIALTY MEETINGS OF THE 9524 05:39:10,882 --> 05:39:12,817 FUNDING WE PROVIDED TO THE 9525 05:39:12,817 --> 05:39:14,018 ACTION NETWORK, SO THIS 9526 05:39:14,018 --> 05:39:16,788 $2 MILLION OVER THREE YEARS TO 9527 05:39:16,788 --> 05:39:20,291 HELP GENERATE MORE DATA ON 9528 05:39:20,291 --> 05:39:21,826 CARDIAC NATURAL HISTORY IN 9529 05:39:21,826 --> 05:39:22,894 DUCHENNE HELPED HARMONIZE 9530 05:39:22,894 --> 05:39:24,696 PROTOCOLS AND DEVELOP OUTCOME 9531 05:39:24,696 --> 05:39:26,531 MEASURES AND THEN WE HAVE A 9532 05:39:26,531 --> 05:39:27,298 BIOMARKERS INITIATIVE AS WELL, 9533 05:39:27,298 --> 05:39:29,667 AND THERE'S A NUMBER OF PROJECTS 9534 05:39:29,667 --> 05:39:31,069 THAT WE FUNDED UNDER BOTH OF 9535 05:39:31,069 --> 05:39:32,403 THESE. 9536 05:39:32,403 --> 05:39:32,971 I JUST PULLED OUT TWO OF THE 9537 05:39:32,971 --> 05:39:35,239 BIGGER EXAMPLES AND THE PROTEIN 9538 05:39:35,239 --> 05:39:37,308 BIOMARKERS, WE DID THIS PROTEIN 9539 05:39:37,308 --> 05:39:39,110 MAPPING PROJECT WHERE TRYING TO 9540 05:39:39,110 --> 05:39:40,211 LEVERAGE SAMPLES THAT HAVE BEEN 9541 05:39:40,211 --> 05:39:41,479 COLLECTED FROM SOME OF THESE 9542 05:39:41,479 --> 05:39:43,281 LONG RUNNING NATURAL HISTORY 9543 05:39:43,281 --> 05:39:45,583 STUDIES, SO 10 YEARS OF IMAGING 9544 05:39:45,583 --> 05:39:48,553 DMD DATA, DOING SOME BIG 9545 05:39:48,553 --> 05:39:49,120 PROTEOMIC ANALYSIS ON THIS. 9546 05:39:49,120 --> 05:39:51,990 WITH THIS PROJECT, WE'RE JUST 9547 05:39:51,990 --> 05:39:54,125 COMING TO PUBLICATION ON IT NOW 9548 05:39:54,125 --> 05:39:55,793 BUT WE WANT TO MAKE SURE THAT 9549 05:39:55,793 --> 05:39:59,063 THESE DATASETS ARE MADE PUBLICLY 9550 05:39:59,063 --> 05:40:01,866 AVAILABLE FOLLOWING THE WAY 9551 05:40:01,866 --> 05:40:04,168 OTHER RESEARCHERS, MEMBERS OF 9552 05:40:04,168 --> 05:40:05,403 INDUSTRY CAN HAVE ACCESS AND TRY 9553 05:40:05,403 --> 05:40:07,038 TO ANSWER ADDITIONAL RESEARCH 9554 05:40:07,038 --> 05:40:08,072 QUESTIONS AND HELP MOVE THE 9555 05:40:08,072 --> 05:40:13,111 FIELD FORWARD. 9556 05:40:13,111 --> 05:40:14,445 SO THAT WAS JUST KIND OF A 9557 05:40:14,445 --> 05:40:15,613 SNAPSHOT OF SOME OF THE AREAS 9558 05:40:15,613 --> 05:40:17,448 THAT WE'RE WORKING IN COMING UP. 9559 05:40:17,448 --> 05:40:18,950 SO HAPPY TO TAKE ANY QUESTIONS. 9560 05:40:18,950 --> 05:40:20,718 >> THANK YOU SO MUCH, ERIC. 9561 05:40:20,718 --> 05:40:22,553 THERE'S ALREADY A QUESTION FROM 9562 05:40:22,553 --> 05:40:27,291 BRAD IN THE CHAT. 9563 05:40:27,291 --> 05:40:32,563 >> SO THAT IS -- WE STARTED TO 9564 05:40:32,563 --> 05:40:33,731 DO -- I THINK IT'S ACTUALLY 9565 05:40:33,731 --> 05:40:34,999 SOMETHING WE NEED TO DIVE INTO, 9566 05:40:34,999 --> 05:40:38,369 THE IMPACT OF THE ICD-10 CODES. 9567 05:40:38,369 --> 05:40:40,304 SO WE HAD DONE SOME INITIAL LOOK 9568 05:40:40,304 --> 05:40:42,640 AT THAT BUT I THINK THAT'S 9569 05:40:42,640 --> 05:40:45,543 SOMETHING THAT WE DO NEED TO 9570 05:40:45,543 --> 05:40:46,844 INTERROGATE A BIT MORE CLOSELY 9571 05:40:46,844 --> 05:40:50,648 TO UNDERSTAND THE IMPACT. 9572 05:40:50,648 --> 05:40:52,417 >> GREAT. 9573 05:40:52,417 --> 05:40:55,153 AND THERE IS A COMMENT FROM 9574 05:40:55,153 --> 05:40:57,121 DR. CRISWELL, THERE'S ALSO 9575 05:40:57,121 --> 05:41:01,993 ANOTHER QUESTION FROM ANDY. 9576 05:41:01,993 --> 05:41:04,962 >> SO WHEN YOU SAY -- SO 9577 05:41:04,962 --> 05:41:07,365 MONETIZING OUR INTERFACE, SO CAN 9578 05:41:07,365 --> 05:41:13,571 I ASK SPECIFICALLY? 9579 05:41:13,571 --> 05:41:15,139 WHICH PIECE? 9580 05:41:15,139 --> 05:41:19,444 >> SO RIGHT WHERE YOU PULL 9581 05:41:19,444 --> 05:41:20,078 SELF-REPORTED DATA AND DATA FROM 9582 05:41:20,078 --> 05:41:23,414 THE EHRs, THAT'S OF CLEAR 9583 05:41:23,414 --> 05:41:27,218 LEHIGH MONETARY VALUE, RIGHT, IN 9584 05:41:27,218 --> 05:41:27,718 THE DEVELOPMENT PROCESS. 9585 05:41:27,718 --> 05:41:30,955 DO YOU USE THAT -- THIS HIGH 9586 05:41:30,955 --> 05:41:32,690 VALUE PIECE, RIGHT, TO THINK 9587 05:41:32,690 --> 05:41:36,794 ABOUT OFFSETTING THE COST OF 9588 05:41:36,794 --> 05:41:37,695 THESE SUPER EXPENSIVE THERAPIES 9589 05:41:37,695 --> 05:41:40,665 WHEN THEY WILL HIT THE MARKET? 9590 05:41:40,665 --> 05:41:42,600 >> SO I THINK WITH THAT, MOST OF 9591 05:41:42,600 --> 05:41:44,268 WHAT WE DO IN TERMS OF -- IF 9592 05:41:44,268 --> 05:41:45,736 THERE IS AS WE UTILIZE THINGS 9593 05:41:45,736 --> 05:41:49,006 LIKE THE REGISTRY AND THERE IS 9594 05:41:49,006 --> 05:41:50,208 SOME MONETIZATION OF THAT WITH 9595 05:41:50,208 --> 05:41:51,909 OUR INDUSTRY PARTNERS, TYPICALLY 9596 05:41:51,909 --> 05:41:53,644 THAT GOES INTO FUNDING FUTURE 9597 05:41:53,644 --> 05:41:54,278 RESEARCH, SO WE HAVEN'T LOOKED 9598 05:41:54,278 --> 05:41:55,513 AT IT AS SOMETHING TO OFFSET THE 9599 05:41:55,513 --> 05:41:57,882 COST OF THAT, AND THAT'S 9600 05:41:57,882 --> 05:42:00,985 TYPICALLY NOT AN AREA THAT PPMD 9601 05:42:00,985 --> 05:42:02,587 REALLY GETS INTO IN TERMS OF THE 9602 05:42:02,587 --> 05:42:04,222 DRUG PRICING AND THE IMPACT KIND 9603 05:42:04,222 --> 05:42:04,755 OF WITH THAT. 9604 05:42:04,755 --> 05:42:07,792 I MEAN, I THINK OUR HOPE WOULD 9605 05:42:07,792 --> 05:42:09,427 BE THAT WE JUST CONTINUE TO 9606 05:42:09,427 --> 05:42:11,963 ACCELERATE THERAPY DEVELOPMENT, 9607 05:42:11,963 --> 05:42:14,866 BUT THAT PIECE IS A LITTLE BIT, 9608 05:42:14,866 --> 05:42:15,833 I THINK, BEYOND OUR SCOPE OTHER 9609 05:42:15,833 --> 05:42:19,804 THAN CONTINUING TO ADVOCATE AND 9610 05:42:19,804 --> 05:42:22,440 WORK WITH OUR PARTNERS ON THE 9611 05:42:22,440 --> 05:42:24,342 HILL TO ENSURE THAT WE HAVE FAIR 9612 05:42:24,342 --> 05:42:25,543 DRUG PRICES AND THAT FAMILIES 9613 05:42:25,543 --> 05:42:29,747 ARE BEING COVERED I AND THAT 9614 05:42:29,747 --> 05:42:30,348 MEDICAID IS WORKING TO COVER 9615 05:42:30,348 --> 05:42:30,581 THOSE. 9616 05:42:30,581 --> 05:42:31,849 AND EVEN WITH THE REALLY HIGH 9617 05:42:31,849 --> 05:42:33,784 PRICES, I DO THINK ONE THING 9618 05:42:33,784 --> 05:42:34,385 THAT'S BEEN REALLY GREAT, SOME 9619 05:42:34,385 --> 05:42:37,555 OF THE WORK FROM PROJECT -- OR 9620 05:42:37,555 --> 05:42:38,923 FROM LITTLE HUR QUEUE LEASE, 9621 05:42:38,923 --> 05:42:40,691 THEY'RE A GROUP THAT HELPS WITH 9622 05:42:40,691 --> 05:42:42,093 SOME OF THESE INSURANCE KIND OF 9623 05:42:42,093 --> 05:42:44,162 BATTLES, AND THEY'VE BEEN ABLE 9624 05:42:44,162 --> 05:42:48,166 TO OVERTURN I THINK ALL 11 9625 05:42:48,166 --> 05:42:48,833 DENIALS THAT HAPPENED WITH THE 9626 05:42:48,833 --> 05:42:57,742 GENE THERAPY WITH ELEFT TLEVETIE 9627 05:42:57,742 --> 05:42:59,110 ARE SEEING FAMILIES GETTING 9628 05:42:59,110 --> 05:43:09,020 ACCESS AND COVERAGE. 9629 05:43:09,020 --> 05:43:18,429 >> ANY OTHER QUESTIONS? 9630 05:43:18,429 --> 05:43:19,263 SEEING NONE, THANK YOU, ERIC, 9631 05:43:19,263 --> 05:43:20,965 FOR BOTH OF YOUR PRESENTATIONS 9632 05:43:20,965 --> 05:43:21,599 TODAY. 9633 05:43:21,599 --> 05:43:23,668 OH, A LATE-BREAKING QUESTION IN 9634 05:43:23,668 --> 05:43:26,103 THE CHAT BOX, IF YOU COULD SEE 9635 05:43:26,103 --> 05:43:29,240 THAT. 9636 05:43:29,240 --> 05:43:30,908 >> SO YEAH, DO YOU ENVISION 9637 05:43:30,908 --> 05:43:32,677 NATURAL HISTORY STUDIES WOULD 9638 05:43:32,677 --> 05:43:35,613 INCLUDE RESPIRATORY DECLINE, 9639 05:43:35,613 --> 05:43:37,949 RESPONSIVE TRAJECTORY OF DECLINE 9640 05:43:37,949 --> 05:43:40,284 AT GENE THERAPY, IMPACT OF 9641 05:43:40,284 --> 05:43:41,085 THORACIC CAGE ISSUES ON LUNG 9642 05:43:41,085 --> 05:43:41,652 FUNCTION, ET CETERA. 9643 05:43:41,652 --> 05:43:42,620 I THINK THIS GOES INTO WHAT I 9644 05:43:42,620 --> 05:43:44,622 WAS TALKING ABOUT ALMOST IN THE 9645 05:43:44,622 --> 05:43:45,389 EARLIER SESSION, IS THAT I THINK 9646 05:43:45,389 --> 05:43:46,791 WE WANT TO MAKE SURE THAT WE'RE 9647 05:43:46,791 --> 05:43:47,892 TRACKING AND GETTING A BETTER 9648 05:43:47,892 --> 05:43:49,660 UNDERSTANDING OF WHAT ARE THE 9649 05:43:49,660 --> 05:43:51,762 LONG-TERM IMPACTS OF THESE GENE 9650 05:43:51,762 --> 05:43:54,198 THERAPIES ON CARDIOPULMONARY 9651 05:43:54,198 --> 05:43:55,900 FUNCTION BECAUSE TO DATE, THE 9652 05:43:55,900 --> 05:43:56,834 MAJORITY OF PATIENTS TREATED 9653 05:43:56,834 --> 05:44:00,204 WITH GENE THERAPIES HAVE BEEN IN 9654 05:44:00,204 --> 05:44:01,872 THIS YOUNG 4 TO 7 AMBULATORY 9655 05:44:01,872 --> 05:44:02,173 RANGE. 9656 05:44:02,173 --> 05:44:03,541 WE DO HAVE A HANDFUL OF PATIENT 9657 05:44:03,541 --> 05:44:04,909 THAT HAVE BEEN TREATED THAT ARE 9658 05:44:04,909 --> 05:44:06,711 OLDER AND NON-AMBULATORY BUT 9659 05:44:06,711 --> 05:44:08,913 IT'S NOT A LOT OF DATA. 9660 05:44:08,913 --> 05:44:10,881 AND SO I THINK WE NEED TO MAKE 9661 05:44:10,881 --> 05:44:13,517 SURE THAT WE ARE TRACKING IT IN 9662 05:44:13,517 --> 05:44:15,253 A WAY THAT ALLOWS US TO ANSWER 9663 05:44:15,253 --> 05:44:15,987 THESE TYPE OF QUESTIONS AND MAKE 9664 05:44:15,987 --> 05:44:18,055 SURE THAT WE DON'T END UP 10 9665 05:44:18,055 --> 05:44:19,890 YEARS DOWN THE ROAD WONDERING 9666 05:44:19,890 --> 05:44:23,294 WHAT THE IMPACT WAS, AND IF THIS 9667 05:44:23,294 --> 05:44:25,263 DOES SHIFT SOME OF THAT NATURAL 9668 05:44:25,263 --> 05:44:27,765 HISTORY, YOU KNOW, HOW ARE WE 9669 05:44:27,765 --> 05:44:29,567 RESPONDING IN TERMS OF CLINICAL 9670 05:44:29,567 --> 05:44:30,701 TRIAL DESIGN, AND THERE'S ALWAYS 9671 05:44:30,701 --> 05:44:32,603 A PUSH FOR EXTERNAL CONTROLS AND 9672 05:44:32,603 --> 05:44:34,138 WE NEED TO MAKE SURE THAT OUR 9673 05:44:34,138 --> 05:44:35,239 DATA IS CONTEMPORARY. 9674 05:44:35,239 --> 05:44:36,807 SO I THINK THESE ARE IMPORTANT 9675 05:44:36,807 --> 05:44:40,177 QUESTIONS AND I HOPE THAT WE'RE 9676 05:44:40,177 --> 05:44:40,778 BEING THOUGHTFUL IN HOW WE'RE 9677 05:44:40,778 --> 05:44:42,113 SETTING UP TO CAPTURE THIS DATA 9678 05:44:42,113 --> 05:44:44,782 SO THAT WE CAN ANSWER THOSE 9679 05:44:44,782 --> 05:44:45,950 QUESTIONS. 9680 05:44:45,950 --> 05:44:49,120 >> OKAY. 9681 05:44:49,120 --> 05:44:50,221 SO LET ME AGAIN SAY THANK YOU 9682 05:44:50,221 --> 05:44:51,889 FOR BOTH OF YOUR EXCELLENT 9683 05:44:51,889 --> 05:44:52,923 PRESENTATIONS. 9684 05:44:52,923 --> 05:44:55,526 AND NOW WE'RE GOING TO HAVE GLEN 9685 05:44:55,526 --> 05:44:57,595 PROVIDE AN UPDATE ON THE RENEWAL 9686 05:44:57,595 --> 05:45:01,098 OF THE MDCC ACTION PLAN. 9687 05:45:01,098 --> 05:45:06,404 GLEN. 9688 05:45:06,404 --> 05:45:12,310 >> THANK YOU. 9689 05:45:12,310 --> 05:45:14,211 SO YOU MAY RECALL FROM THE APRIL 9690 05:45:14,211 --> 05:45:15,680 MDCC MEETING THIS YEAR WE 9691 05:45:15,680 --> 05:45:16,580 DECIDED IT WAS PROBABLY ABOUT 9692 05:45:16,580 --> 05:45:19,116 TIME TO RENEW THE STRATEGIC PLAN 9693 05:45:19,116 --> 05:45:20,284 FOR THIS COMMITTEE WHICH IS 9694 05:45:20,284 --> 05:45:21,686 CALLED THE ACTION PLAN FOR THE 9695 05:45:21,686 --> 05:45:23,087 MUSCULAR DYSTROPHIES. 9696 05:45:23,087 --> 05:45:25,823 SO WE'RE COMING UP ON 10 YEARS 9697 05:45:25,823 --> 05:45:28,359 SINCE THE PREVIOUS PLAN WAS 9698 05:45:28,359 --> 05:45:28,626 RELEASED. 9699 05:45:28,626 --> 05:45:30,294 AND I JUST WANTED TO GIVE YOU 9700 05:45:30,294 --> 05:45:31,128 KIND OF A BRIEF UPDATE ON THE 9701 05:45:31,128 --> 05:45:33,030 PROGRESS THAT WE'VE MADE SINCE 9702 05:45:33,030 --> 05:45:33,497 THEN. 9703 05:45:33,497 --> 05:45:38,035 SO THIS SLIDE SHOWS KIND OF THE 9704 05:45:38,035 --> 05:45:39,804 ORG CHART FOR ACTIVITIES RELATED 9705 05:45:39,804 --> 05:45:40,838 TO THE RENEWAL OF THE ACTION 9706 05:45:40,838 --> 05:45:41,105 PLAN. 9707 05:45:41,105 --> 05:45:44,208 SO EVENTUALLY THE DRAFT PLAN 9708 05:45:44,208 --> 05:45:45,943 WILL COME BACK TO THIS COMMITTEE 9709 05:45:45,943 --> 05:45:48,679 FOR VOTING ON PROBABLY IN THE 9710 05:45:48,679 --> 05:45:53,884 SPRING OF 2025 TO KIND OF HELP 9711 05:45:53,884 --> 05:45:58,556 WITH THE EVERYDAY OR EVERY-MONTH 9712 05:45:58,556 --> 05:45:59,423 DECISION-MAKING RELATED TO IT. 9713 05:45:59,423 --> 05:46:01,092 WE'VE CREATED A STEERING GROUP 9714 05:46:01,092 --> 05:46:04,762 WHICH IS COMPOSED OF SOLITARY 9715 05:46:04,762 --> 05:46:07,398 MEMBERS FROM MDCC AS WELL AS 9716 05:46:07,398 --> 05:46:10,134 OTHER ADVOCACY GROUP AND NIH 9717 05:46:10,134 --> 05:46:10,501 STAFF. 9718 05:46:10,501 --> 05:46:12,903 AND CURRENTLY WE'RE WORKING ON 9719 05:46:12,903 --> 05:46:13,871 CREATING THESE WORKING GROUPS 9720 05:46:13,871 --> 05:46:17,742 THAT WILL BE ON TOPICS SPECIFIC 9721 05:46:17,742 --> 05:46:20,878 TO SECTIONS OF THE ACTION PLAN. 9722 05:46:20,878 --> 05:46:23,948 SO THIS IS THE MEMBERSHIP OF THE 9723 05:46:23,948 --> 05:46:25,483 STEERING GROUP. 9724 05:46:25,483 --> 05:46:26,250 REALLY APPRECIATE EVERYONE'S 9725 05:46:26,250 --> 05:46:27,585 HELP THAT'S BEEN MEETING WITH 9726 05:46:27,585 --> 05:46:29,019 THIS GROUP. 9727 05:46:29,019 --> 05:46:31,522 WE'VE MET, I GUESS LIKE THREE 9728 05:46:31,522 --> 05:46:35,593 TIMES NOW TO T THROUGH THE SUMMD 9729 05:46:35,593 --> 05:46:36,093 INTO THE FALL. 9730 05:46:36,093 --> 05:46:37,328 ONE OF THE THINGS THAT WE TALKED 9731 05:46:37,328 --> 05:46:39,864 ABOUT, BOTH AT OUR LAST MDCC 9732 05:46:39,864 --> 05:46:42,266 MEETING AND THROUGH THE STEERING 9733 05:46:42,266 --> 05:46:44,902 GROUP IS HOW BROAD ARE WE GOING 9734 05:46:44,902 --> 05:46:46,737 TO MAKE THIS, YOU KNOW, AND DO 9735 05:46:46,737 --> 05:46:48,939 WE JUST STICK WITH THE TYPES OF 9736 05:46:48,939 --> 05:46:50,508 MUSCULAR DYSTROPHY THAT ARE 9737 05:46:50,508 --> 05:46:52,710 LISTED IN THE FEDERAL 9738 05:46:52,710 --> 05:46:54,311 LEGISLATION, THE MD CARE ACT, OR 9739 05:46:54,311 --> 05:46:55,846 ARE WE OPEN TO OTHER THINGS, AND 9740 05:46:55,846 --> 05:46:57,014 I DON'T THINK THAT WE NEED TO 9741 05:46:57,014 --> 05:47:00,718 COME UP WITH A, YOU KNOW, REALLY 9742 05:47:00,718 --> 05:47:02,219 SHARP DEFINITION OF MUSCULAR 9743 05:47:02,219 --> 05:47:04,255 DYSTROPHY THAT I THINK THE 9744 05:47:04,255 --> 05:47:06,357 FEELING WAS, YOU KNOW, CERTAINLY 9745 05:47:06,357 --> 05:47:10,127 ALL OF THE DYSTROPHIES LISTED 9746 05:47:10,127 --> 05:47:12,129 TRADITIONALLY THOUGHT OF AS 9747 05:47:12,129 --> 05:47:13,697 MUSCULAR DYSTROPHIES AND IN THE 9748 05:47:13,697 --> 05:47:15,266 LEGISLATION BUT ALSO WE'RE OPEN 9749 05:47:15,266 --> 05:47:16,267 TO INCLUDING RELATED MUSCLE 9750 05:47:16,267 --> 05:47:18,602 DISEASES THAT HAVE SIMILAR 9751 05:47:18,602 --> 05:47:21,071 GENETICS, SIMILAR 9752 05:47:21,071 --> 05:47:21,806 PATHOPHYSIOLOGY, CLINICAL 9753 05:47:21,806 --> 05:47:22,373 PRESENTATION, THIS SORT OF 9754 05:47:22,373 --> 05:47:22,573 THING. 9755 05:47:22,573 --> 05:47:25,910 BUT THERE SEEM TO BE PRETTY 9756 05:47:25,910 --> 05:47:29,647 CLEAR THOUGHTS THAT WE WOULDN'T 9757 05:47:29,647 --> 05:47:30,981 TRY TO INCORPORATE OTHER 9758 05:47:30,981 --> 05:47:33,584 CONDITIONS THAT RESULT FROM LIKE 9759 05:47:33,584 --> 05:47:35,686 A NEURONAL METABOLIC OR 9760 05:47:35,686 --> 05:47:37,321 AUTOIMMUNE MECHANISMS. 9761 05:47:37,321 --> 05:47:42,560 SO FOR EXAMPLE, SMA, POMPE, 9762 05:47:42,560 --> 05:47:44,128 MYASTHENIA GRAVIS IS REALLY NOT 9763 05:47:44,128 --> 05:47:44,762 WITHIN THE MISSION OF THIS 9764 05:47:44,762 --> 05:47:47,498 COMMITTEE OR THE ACTION PLAN. 9765 05:47:47,498 --> 05:47:48,666 I DON'T THINK THAT THIS IS 9766 05:47:48,666 --> 05:47:50,167 REALLY -- YOU KNOW, I THINK ONCE 9767 05:47:50,167 --> 05:47:52,036 WE GET TO THE OBJECTIVES IN THE 9768 05:47:52,036 --> 05:47:56,974 ACTION PLAN, THEY'LL BE BROAD 9769 05:47:56,974 --> 05:48:00,010 ENOUGH THAT THEY COULD QUITE 9770 05:48:00,010 --> 05:48:00,644 POSSIBLY BE APPLICABLE TO OTHER 9771 05:48:00,644 --> 05:48:01,846 DISEASE AREAS, BUT WE WANTED TO 9772 05:48:01,846 --> 05:48:06,250 MAKE IT KIND OF CLEAR WHAT WE 9773 05:48:06,250 --> 05:48:10,955 CONSIDER OUR -- WE'VE ALSO 9774 05:48:10,955 --> 05:48:12,223 DEVELOPED SOME KIND OF DRAFT 9775 05:48:12,223 --> 05:48:12,990 DEFINITIONS FOR DIFFERENT 9776 05:48:12,990 --> 05:48:13,891 WORKING GROUPS, SO WE'RE GOING 9777 05:48:13,891 --> 05:48:16,894 TO HAVE MECHANISMS OF DISEASE 9778 05:48:16,894 --> 05:48:18,929 WHICH IS KIND OF OBVIOUS. 9779 05:48:18,929 --> 05:48:20,231 PRE-CLINICAL THERAPY DEVELOPMENT 9780 05:48:20,231 --> 05:48:22,132 WHICH WOULD REALLY COVER 9781 05:48:22,132 --> 05:48:23,567 EVERYTHING FROM KIND OF 9782 05:48:23,567 --> 05:48:25,402 SCREENING ASSAYS UP THROUGH 9783 05:48:25,402 --> 05:48:28,405 PROOF OF CONCEPT IN ANIMAL 9784 05:48:28,405 --> 05:48:30,574 MODELS AND IND-ENABLING STUDIES, 9785 05:48:30,574 --> 05:48:31,842 SO ANYTHING YOU NEED TO KIND OF 9786 05:48:31,842 --> 05:48:34,612 TAKE A PRODUCT UP TO BEFORE YOU 9787 05:48:34,612 --> 05:48:35,813 GET TO A CLINICAL TRIAL. 9788 05:48:35,813 --> 05:48:37,281 AND THEN WE'RE GOING TO HAVE A 9789 05:48:37,281 --> 05:48:40,150 SECTION ON CLINICAL STUDIES, AND 9790 05:48:40,150 --> 05:48:41,619 BY CLINICAL IN THIS CASE, WE 9791 05:48:41,619 --> 05:48:43,487 MEAN PATIENT ORIENTED STUDIES 9792 05:48:43,487 --> 05:48:47,224 WHERE THEY SAY THERE WAS A 9793 05:48:47,224 --> 05:48:50,861 RESEARCHER AND THERE'S A STUDY 9794 05:48:50,861 --> 05:48:51,729 PARTICIPANT IN THE SAME ROOM AT 9795 05:48:51,729 --> 05:48:52,897 THE SAME TIME, AND BOTH OF THEM 9796 05:48:52,897 --> 05:48:55,099 ARE LIVE. 9797 05:48:55,099 --> 05:48:57,668 AND THIS WILL COVER EVERYTHING 9798 05:48:57,668 --> 05:48:59,169 FROM CLINICAL TRIAL READINESS, 9799 05:48:59,169 --> 05:49:01,171 BIOMARKERS, OUT COME MEASURES, 9800 05:49:01,171 --> 05:49:04,975 AS WELL AS CLINICAL TRIALS, BUT 9801 05:49:04,975 --> 05:49:05,910 ALSO THINGS LIKE EPIDEMIOLOGIC 9802 05:49:05,910 --> 05:49:07,344 STUDIES AND BEHAVIORAL STUDIES 9803 05:49:07,344 --> 05:49:08,012 AND SO FORTH. 9804 05:49:08,012 --> 05:49:09,780 AND THEN WE'LL HAVE A WORKING 9805 05:49:09,780 --> 05:49:10,848 GROUP ON HEALTH, QUALITY OF 9806 05:49:10,848 --> 05:49:13,450 LIFE, ACCESS TO CARE AND 9807 05:49:13,450 --> 05:49:14,051 SERVICES. 9808 05:49:14,051 --> 05:49:17,021 AND THIS WILL INCLUDE THINGS 9809 05:49:17,021 --> 05:49:18,088 LIKE DEVELOPMENT, ZOO IT'S 9810 05:49:18,088 --> 05:49:19,890 CERTAINLY RESEARCH TOPICS, BUT 9811 05:49:19,890 --> 05:49:22,927 ALSO IMPLEMENTATION O OR 9812 05:49:22,927 --> 05:49:24,328 EVALUATION OF POLICIES OR 9813 05:49:24,328 --> 05:49:25,729 EDUCATION PROGRAMS, WOULD 9814 05:49:25,729 --> 05:49:28,666 INCLUDE THINGS LIKE PROMOTING 9815 05:49:28,666 --> 05:49:31,669 INDEPENDENT LIVING, INTEGRATION 9816 05:49:31,669 --> 05:49:33,737 IN THE EDUCATION SYSTEM OR THE 9817 05:49:33,737 --> 05:49:35,773 WORKFORCE, AS WELL AS ACCESS TO 9818 05:49:35,773 --> 05:49:38,976 CARE AND SERVICES AND 9819 05:49:38,976 --> 05:49:40,477 IMPLEMENTATION OF NEWBORN 9820 05:49:40,477 --> 05:49:46,250 SCREENING, THAT SORT OF THING. 9821 05:49:46,250 --> 05:49:48,819 SO IN ADDITION TO THOSE, THE 9822 05:49:48,819 --> 05:49:51,021 TOPICS THAT ARE REALLY FOR EACH 9823 05:49:51,021 --> 05:49:51,622 OF THOSE FOUR WORKING GROUPS, 9824 05:49:51,622 --> 05:49:53,090 EACH OF THE WORKING GROUPS IS 9825 05:49:53,090 --> 05:49:54,325 ALSO GOING TO TALK ABOUT 9826 05:49:54,325 --> 05:49:56,961 WORKFORCE DEVELOPMENT AND 9827 05:49:56,961 --> 05:49:58,562 TRAINING WITHIN THEIR AREA, 9828 05:49:58,562 --> 05:49:59,763 OPPORTUNITIES FOR COLLABORATION 9829 05:49:59,763 --> 05:50:01,365 AND PARTNERSHIP, DATA AND 9830 05:50:01,365 --> 05:50:05,536 RESOURCE SHARING, AND THEN DEIA 9831 05:50:05,536 --> 05:50:10,474 ISSUES AS IT FITS INTO WHATEVER 9832 05:50:10,474 --> 05:50:13,744 ITS PRE-CLINICAL RESEARCH, IF 9833 05:50:13,744 --> 05:50:15,546 IT'S CLINICAL RESEARCH, ACCESS 9834 05:50:15,546 --> 05:50:16,814 TO CARE AND SERVICES AND SO 9835 05:50:16,814 --> 05:50:17,748 FORTH. 9836 05:50:17,748 --> 05:50:20,317 SO WE HAVE SUCCESSFULLY 9837 05:50:20,317 --> 05:50:24,054 RECRUITED ALL OF THE CO-CHAIRS 9838 05:50:24,054 --> 05:50:24,855 FOR OUR WORKING GROUPS, SO 9839 05:50:24,855 --> 05:50:26,023 MECHANISMS OF DISEASE IS GOING 9840 05:50:26,023 --> 05:50:33,163 TO BE CO-CHAIRED BY 9841 05:50:33,163 --> 05:50:34,999 EMANUELAGUSSONI AND LEE SWEENEY, 9842 05:50:34,999 --> 05:50:39,637 CLINICAL STUDIES BY KATHERINE 9843 05:50:39,637 --> 05:50:42,973 MATHEWS AND RICHARD FINKEL, 9844 05:50:42,973 --> 05:50:44,708 HEALTH, QUALITY OF LIFE AND 9845 05:50:44,708 --> 05:50:45,876 ACCESS TO CARE AND SERVICES BY 9846 05:50:45,876 --> 05:50:48,545 ANNIE KENNEDY AND PAUL MELMEYER. 9847 05:50:48,545 --> 05:50:50,314 WE'RE IN THE PROCESS OF GETTING 9848 05:50:50,314 --> 05:50:51,715 RECOMMENDATIONS FROM OUR 9849 05:50:51,715 --> 05:50:52,416 CO-CHAIRS, WE HAD 9850 05:50:52,416 --> 05:50:53,250 RECOMMENDATIONS FROM OUR 9851 05:50:53,250 --> 05:50:55,319 STEERING GROUP OF WHO SHOULD BE 9852 05:50:55,319 --> 05:50:56,320 ON THESE WORKING GROUPS. 9853 05:50:56,320 --> 05:50:57,388 WE'RE ANTICIPATING THAT EACH 9854 05:50:57,388 --> 05:50:59,923 WORKING GROUP WILL BE ABOUT 9855 05:50:59,923 --> 05:51:01,458 EIGHT MEMBERS PLUS THE 9856 05:51:01,458 --> 05:51:02,593 CO-CHAIRS, AND WE'RE CONSIDERING 9857 05:51:02,593 --> 05:51:04,294 THINGS LIKE EXPERTISE ACROSS 9858 05:51:04,294 --> 05:51:10,134 MULTIPLE TYPES OF MUSCULAR 9859 05:51:10,134 --> 05:51:11,935 DYSTROPHY, TRIED TO GET A 9860 05:51:11,935 --> 05:51:14,138 BALANCE OF MUSCULAR DYSTROPHY, A 9861 05:51:14,138 --> 05:51:16,373 BALANCE OF GENDER, RACE, 9862 05:51:16,373 --> 05:51:17,608 ETHNICITY, GEOGRAPHIC 9863 05:51:17,608 --> 05:51:18,275 DISTRIBUTION, CAREER STAGES SO 9864 05:51:18,275 --> 05:51:19,309 WE'RE NOT ALL JUST RECRUITING 9865 05:51:19,309 --> 05:51:22,046 THE MOST EXPERIENCED PEOPLE BUT 9866 05:51:22,046 --> 05:51:23,614 GETTING GOOD IDEAS FROM MID 9867 05:51:23,614 --> 05:51:24,248 CAREER AND APPROPRIATE BROAD 9868 05:51:24,248 --> 05:51:27,584 THINKERS AT THAT LEVEL. 9869 05:51:27,584 --> 05:51:31,021 AND SO THE PLAN IS TO HAVE THOSE 9870 05:51:31,021 --> 05:51:32,656 WORKING GROUPS, GIVE THEM A 9871 05:51:32,656 --> 05:51:33,090 CHARGE. 9872 05:51:33,090 --> 05:51:35,559 FIRST THING WE WANT TO DO IS 9873 05:51:35,559 --> 05:51:39,496 HAVE THEM REVIEW PROGRESS ON THE 9874 05:51:39,496 --> 05:51:41,598 2015 ACTION PLAN, AND I THINK 9875 05:51:41,598 --> 05:51:43,100 THE WAY WE'VE DECIDED TO DO THIS 9876 05:51:43,100 --> 05:51:46,470 IS, YOU KNOW, WITH HELP FROM NIH 9877 05:51:46,470 --> 05:51:49,807 STAFF AND SOME PEOPLE THAT WE'LL 9878 05:51:49,807 --> 05:51:52,376 REACH OUT TO, WILL DRAFT KIND OF 9879 05:51:52,376 --> 05:51:54,278 ONE OR TWO SENTENCES SUMMARIZING 9880 05:51:54,278 --> 05:51:56,313 PROGRESS ON EACH OF THE 81 9881 05:51:56,313 --> 05:51:57,181 OBJECTIVES. 9882 05:51:57,181 --> 05:51:58,849 THIS IS NOT A REVIEW ARTICLE, 9883 05:51:58,849 --> 05:52:00,117 WE'RE NOT PUTTING REFERENCES 9884 05:52:00,117 --> 05:52:02,286 INTO IT, WE'RE NOT TRYING TO 9885 05:52:02,286 --> 05:52:03,921 DOCUMENT ALL THE PROCESS IN THE 9886 05:52:03,921 --> 05:52:05,289 MUSCULAR DYSTROPHIES FOR THE 9887 05:52:05,289 --> 05:52:06,056 PAST 10 YEARS. 9888 05:52:06,056 --> 05:52:08,659 WE'RE JUST TRYING TO SUMMARIZE 9889 05:52:08,659 --> 05:52:10,394 KIND OF BRIEFLY HOW HAVE THINGS 9890 05:52:10,394 --> 05:52:11,495 GONE FOR THIS OBJECTIVE. 9891 05:52:11,495 --> 05:52:14,164 AND THEN WE'LL ASK THE WORKING 9892 05:52:14,164 --> 05:52:16,767 GROUPS TO KIND OF REVIEW THAT 9893 05:52:16,767 --> 05:52:18,035 DRAFT DOCUMENT AND ADD 9894 05:52:18,035 --> 05:52:19,937 ADDITIONAL DETAIL IF THEY FEEL 9895 05:52:19,937 --> 05:52:20,571 NECESSARY. 9896 05:52:20,571 --> 05:52:22,139 WE FIGURE THAT WILL KIND OF 9897 05:52:22,139 --> 05:52:23,640 PRIME THEM INTO THINKING ABOUT, 9898 05:52:23,640 --> 05:52:25,409 WELL, OKAY, THAT'S WHERE WE ARE 9899 05:52:25,409 --> 05:52:28,445 NOW, WHERE SHOULD WE BE GOING, 9900 05:52:28,445 --> 05:52:29,747 AND THEN WE REALLY WANT EACH 9901 05:52:29,747 --> 05:52:33,083 WORKING GROUP TO DISCUSS AND 9902 05:52:33,083 --> 05:52:36,086 DEVELOP CONSENSUS ABOUT THREE TO 9903 05:52:36,086 --> 05:52:39,056 FOUR BROAD PRIORITIES. 9904 05:52:39,056 --> 05:52:41,024 AND IN PARTICULAR, THEY'RE NOT 9905 05:52:41,024 --> 05:52:42,392 SAYING THIS IS ALL WE NEED TO 9906 05:52:42,392 --> 05:52:42,760 WORK ON. 9907 05:52:42,760 --> 05:52:46,230 THEY WANT TO SAY THESE ARE BROAD 9908 05:52:46,230 --> 05:52:48,165 AREAS THAT RISE TO THE TOP, THAT 9909 05:52:48,165 --> 05:52:50,100 WE FEEL VERY STRONGLY, YOU KNOW, 9910 05:52:50,100 --> 05:52:52,803 SHOULD BE EMPHASIZED. 9911 05:52:52,803 --> 05:52:55,005 SO THE 2015 ACTION PLAN 9912 05:52:55,005 --> 05:52:56,874 OBJECTIVES ARE STILL VERY 9913 05:52:56,874 --> 05:52:57,241 IMPORTANT. 9914 05:52:57,241 --> 05:53:00,644 YOU KNOW, WE'LL POINT OUT THAT 9915 05:53:00,644 --> 05:53:02,546 MANY OF THEM ARE CERTAINLY NOT 9916 05:53:02,546 --> 05:53:03,947 COMPLETED YET. 9917 05:53:03,947 --> 05:53:05,849 THEY'RE AT A MUCH KIND OF HIGHER 9918 05:53:05,849 --> 05:53:06,817 RESOLUTION THAN WHAT WE'RE 9919 05:53:06,817 --> 05:53:08,919 THINKING THESE BROAD PRIORITY 9920 05:53:08,919 --> 05:53:10,888 WILL BE, AND SO THE RENEWED 9921 05:53:10,888 --> 05:53:14,525 ACTION PLAN WILL SAY CONTINUE TO 9922 05:53:14,525 --> 05:53:17,027 LOOK AT THE OBJECTIVES IN THE 9923 05:53:17,027 --> 05:53:18,495 2015 ACTION PLAN, THERE'S STILL 9924 05:53:18,495 --> 05:53:19,997 A LOT TO BE DONE THERE. 9925 05:53:19,997 --> 05:53:22,666 BUT WE RILEY WANTED OUR WORKING 9926 05:53:22,666 --> 05:53:24,034 GROUPS TO RECOMMEND THESE, YOU 9927 05:53:24,034 --> 05:53:26,136 KNOW, BROADER AND HIGHER LEVEL 9928 05:53:26,136 --> 05:53:27,971 PRIORITIES. 9929 05:53:27,971 --> 05:53:30,040 JUST A COUPLE OF EXAMPLES, IT'S 9930 05:53:30,040 --> 05:53:31,408 REALLY GOING TO BE UP TO THE 9931 05:53:31,408 --> 05:53:32,309 WORKING GROUPS TO DECIDE WHAT 9932 05:53:32,309 --> 05:53:34,778 THEY WANT TO PRIORITIZE, BUT I 9933 05:53:34,778 --> 05:53:35,913 CAN IMAGINE, FOR EXAMPLE, THE 9934 05:53:35,913 --> 05:53:37,014 PRE-CLINICAL WORKING GROUP MAY 9935 05:53:37,014 --> 05:53:40,484 WANT TO PRIORITIZE DEVELOPMENT 9936 05:53:40,484 --> 05:53:42,920 OF GENE-BASED THERAPIES. 9937 05:53:42,920 --> 05:53:48,392 AND THAT CAN INCLUDE AAV GENE 9938 05:53:48,392 --> 05:53:51,328 DELIVERY, ANTISENSE 9939 05:53:51,328 --> 05:53:52,296 OLIGONUCLEOTIDE, GENOME EDITING, 9940 05:53:52,296 --> 05:53:53,530 THINGS WE HEARD FROM CARSTEN 9941 05:53:53,530 --> 05:53:58,035 THIS MORNING ABOUT IMMUNOLOGIC 9942 05:53:58,035 --> 05:53:59,503 OBSTACLES TO GENE-BASED 9943 05:53:59,503 --> 05:54:01,572 THERAPIES. 9944 05:54:01,572 --> 05:54:06,276 AN EXAMPLE IN THE CLINICAL 9945 05:54:06,276 --> 05:54:08,412 STUDIES AREA IS PERHAPS 9946 05:54:08,412 --> 05:54:11,515 FACILITATE THE DESIGN OF PATIENT 9947 05:54:11,515 --> 05:54:12,749 FOCUSED CLINICAL TRIALS. 9948 05:54:12,749 --> 05:54:15,385 SO HAVING VALIDATED OUTCOME 9949 05:54:15,385 --> 05:54:17,487 MEASURES THAT ARE IMPORTANT TO 9950 05:54:17,487 --> 05:54:18,789 PATIENTS, APPROPRIATE DIVERSITY 9951 05:54:18,789 --> 05:54:21,625 OF THE TRIAL PARTICIPANTS, 9952 05:54:21,625 --> 05:54:24,328 STRATEGIES SUCH AS REMOTE DATA 9953 05:54:24,328 --> 05:54:25,929 COLLECTION, OR DIGITAL HEALTH 9954 05:54:25,929 --> 05:54:28,232 END POINT TO REDUCE THE BURDEN 9955 05:54:28,232 --> 05:54:29,766 OF TRIAL PARTICIPATION, SO 9956 05:54:29,766 --> 05:54:32,069 AGAIN, IT'S UP TO THEM TO 9957 05:54:32,069 --> 05:54:32,636 DECIDE, YOU KNOW, WHAT THEY 9958 05:54:32,636 --> 05:54:33,871 THINK THE PRIORITIES ARE, AND 9959 05:54:33,871 --> 05:54:35,706 JUST GIVING THESE AS EXAMPLES OF 9960 05:54:35,706 --> 05:54:37,774 WHAT WE'RE ENVISIONING AS KIND 9961 05:54:37,774 --> 05:54:39,977 OF THE BREADTH OF THE OBJECTIVES 9962 05:54:39,977 --> 05:54:42,813 THAT THEY MAY WANT TO INCLUDE. 9963 05:54:42,813 --> 05:54:45,349 SO THIS IS THE TIMELINE OF HOW 9964 05:54:45,349 --> 05:54:46,350 WE'RE DOING FOR THE ACTION PLAN, 9965 05:54:46,350 --> 05:54:47,751 SO, YOU KNOW, PRESENTED THE 9966 05:54:47,751 --> 05:54:50,053 PLANS AT THE LAST MDCC MEETING. 9967 05:54:50,053 --> 05:54:51,455 WE'VE NOW GOT OUR STEERING 9968 05:54:51,455 --> 05:54:53,123 GROUP, WE'RE WORKING ON 9969 05:54:53,123 --> 05:54:54,992 ASSEMBLING OUR WORKING GROUPS, 9970 05:54:54,992 --> 05:54:55,826 WE'RE GOING TO CHARGE THEM AND 9971 05:54:55,826 --> 05:54:58,161 START SCHEDULING MEETINGS. 9972 05:54:58,161 --> 05:54:59,796 WE'RE ANTICIPATING ABOUT THREE 9973 05:54:59,796 --> 05:55:02,332 MEETINGS WITH THE INDIVIDUAL 9974 05:55:02,332 --> 05:55:04,101 WORKING GROUPS. 9975 05:55:04,101 --> 05:55:05,269 MOSTLY ONLINE IF WE FEEL THAT 9976 05:55:05,269 --> 05:55:08,739 THERE'S A NEED TO KIND OF MEET 9977 05:55:08,739 --> 05:55:11,775 TOGETHER IN PERSON TO DEVELOP 9978 05:55:11,775 --> 05:55:13,510 CONSENSUS, WE CAN CERTAINLY DO 9979 05:55:13,510 --> 05:55:15,212 THAT. 9980 05:55:15,212 --> 05:55:16,413 ON AN INDEPENDENT TRACK TO THE 9981 05:55:16,413 --> 05:55:17,281 WORKING GROUPS, WE'D LIKE TO 9982 05:55:17,281 --> 05:55:19,082 HAVE A MEETING WITH INDUSTRY 9983 05:55:19,082 --> 05:55:21,685 RESEARCHERS, YOU KNOW, MDCC IS A 9984 05:55:21,685 --> 05:55:23,253 FACA COMMITTEE SO WE HAVE TO BE 9985 05:55:23,253 --> 05:55:24,087 VERY CAREFUL ABOUT THE 9986 05:55:24,087 --> 05:55:26,123 APPEARANCES OF ANY INDUSTRY 9987 05:55:26,123 --> 05:55:28,659 GROUP INFLUENCING, YOU KNOW, OUR 9988 05:55:28,659 --> 05:55:29,626 DECISION-MAKING, SO WE WOULD 9989 05:55:29,626 --> 05:55:33,463 HAVE A TRANSPARENT MEETING WITH 9990 05:55:33,463 --> 05:55:36,833 ANY INDUSTRY PEOPLE THAT WANT TO 9991 05:55:36,833 --> 05:55:38,535 PARTICIPATE AND GET THEIR VIEWS 9992 05:55:38,535 --> 05:55:39,136 BECAUSE IT'S CERTAINLY REALLY 9993 05:55:39,136 --> 05:55:41,471 IMPORTANT FOR ADVANCING THE 9994 05:55:41,471 --> 05:55:42,039 FIELD. 9995 05:55:42,039 --> 05:55:44,942 AND THEN PROBABLY FOR THE FALL 9996 05:55:44,942 --> 05:55:49,046 MEETING IN 2024, FALL MDCC 9997 05:55:49,046 --> 05:55:50,080 MEETING, WE'LL HAVE THE WORKING 9998 05:55:50,080 --> 05:55:52,783 GROUP CO-CHAIRS, YOU KNOW, COME 9999 05:55:52,783 --> 05:55:55,319 AND TALK ABOUT THE PRIORITIES 10000 05:55:55,319 --> 05:55:56,520 THAT WE'VE DEVELOPED, WE'LL PUT 10001 05:55:56,520 --> 05:56:00,090 IT OUT FOR PUBLIC COMMENT, FINAL 10002 05:56:00,090 --> 05:56:02,793 EDIT, AND THEN ANTICIPATE THE 10003 05:56:02,793 --> 05:56:05,329 MDCC CONSIDERING IT FOR A VOTE 10004 05:56:05,329 --> 05:56:08,799 IN SPRING MEETING OF 2025. 10005 05:56:08,799 --> 05:56:12,102 AND THEN WE CAN GO TO IC 10006 05:56:12,102 --> 05:56:15,105 ADVISORY COMMITTEE MEETINGS, 10007 05:56:15,105 --> 05:56:17,908 ADVISORY COUNCIL MEETINGS, AND 10008 05:56:17,908 --> 05:56:18,709 PROVIDE UPDATE IF THAT'S 10009 05:56:18,709 --> 05:56:19,142 DESIRED. 10010 05:56:19,142 --> 05:56:21,678 FOR THE LAST TIME IN 2015, WE 10011 05:56:21,678 --> 05:56:24,281 ALSO PUBLISHED A JOURNAL ARTICLE 10012 05:56:24,281 --> 05:56:27,417 JUST KIND OF DESCRIBING THE MDCC 10013 05:56:27,417 --> 05:56:29,619 AND THE ACTION PLAN, WE CAN 10014 05:56:29,619 --> 05:56:30,988 CONSIDER DOING THAT AGAIN THIS 10015 05:56:30,988 --> 05:56:31,188 TIME. 10016 05:56:31,188 --> 05:56:32,856 SO THAT'S KIND OF WHERE WE ARE 10017 05:56:32,856 --> 05:56:33,790 NOW, AND HAPPY TO TAKE ANY 10018 05:56:33,790 --> 05:56:41,465 QUESTIONS. 10019 05:56:41,465 --> 05:56:51,541 >> 10020 05:57:00,617 --> 05:57:01,918 >> DOES THE MATH ADD UP? 10021 05:57:01,918 --> 05:57:07,758 OKAY. 10022 05:57:07,758 --> 05:57:10,327 >> I HAD ONLY ONE QUESTION. 10023 05:57:10,327 --> 05:57:16,266 IN TERMS OF THE PROGRESS ON 10024 05:57:16,266 --> 05:57:18,235 PREVIOUS 81 OBJECTIVES, SO IF 10025 05:57:18,235 --> 05:57:19,636 YOU WANTED TO KEEP IT SHORT, 10026 05:57:19,636 --> 05:57:24,007 RIGHT, SO YOU COU TSH THEY COULD 10027 05:57:24,007 --> 05:57:25,642 FOCUS MORE ON THE FUTURE, I'M 10028 05:57:25,642 --> 05:57:26,943 GUESSING, AND I THINK THAT'S A 10029 05:57:26,943 --> 05:57:28,245 GOOD IDEA. 10030 05:57:28,245 --> 05:57:30,147 BUT I DO THINK -- I WAS THINKING 10031 05:57:30,147 --> 05:57:32,249 THAT SINCE IT'S GOING TO BE SO 10032 05:57:32,249 --> 05:57:36,153 SHORT, TO HAVE REFERENCES IS 10033 05:57:36,153 --> 05:57:39,156 PROBABLY WORTH IT. 10034 05:57:39,156 --> 05:57:42,125 YOU'RE NOT GOING TO GIVE AN 10035 05:57:42,125 --> 05:57:44,127 EXHAUSTIVE VIEW, BUT IF IT'S 10036 05:57:44,127 --> 05:57:50,100 ONLY A COUPLE OF SENTENCES, THEN 10037 05:57:50,100 --> 05:57:51,134 I WOULD THINK THAT IT WOULD BE 10038 05:57:51,134 --> 05:57:53,770 VALUABLE TO HAVE A LIST OF 10039 05:57:53,770 --> 05:57:56,106 REFERENCES FOR EACH ONE SO THAT 10040 05:57:56,106 --> 05:58:02,279 PEOPLE KNOW, YOU KNOW, WHAT'S IN 10041 05:58:02,279 --> 05:58:02,479 THERE. 10042 05:58:02,479 --> 05:58:03,280 >> OKAY. 10043 05:58:03,280 --> 05:58:04,581 SO YOU KNOW, I THINK THAT SOME 10044 05:58:04,581 --> 05:58:06,983 OF THE OBJECTIVES WOULD HAVE 10045 05:58:06,983 --> 05:58:08,518 HUNDREDS AND HUNDREDS OF 10046 05:58:08,518 --> 05:58:10,053 REFERENCES. 10047 05:58:10,053 --> 05:58:10,854 , YOU KNOW, OF THE 10048 05:58:10,854 --> 05:58:13,123 WORK THAT'S BEEN DONE OVER THE 10049 05:58:13,123 --> 05:58:13,757 PAST 10 YEARS. 10050 05:58:13,757 --> 05:58:16,193 IT MAY BE KIND OF CHALLENGING. 10051 05:58:16,193 --> 05:58:20,964 WE CAN, YOU KNOW, DATA-MINE THAT 10052 05:58:20,964 --> 05:58:22,132 FROM WHEN NIH HAS FUNDED, BUT 10053 05:58:22,132 --> 05:58:25,102 THERE ARE OTHER FUNDING 10054 05:58:25,102 --> 05:58:26,436 ORGANIZATIONS. 10055 05:58:26,436 --> 05:58:30,173 YOU KNOW, THAT WOULD 10056 05:58:30,173 --> 05:58:31,441 EXPONENTIALLY, I THINK, INCREASE 10057 05:58:31,441 --> 05:58:34,611 THE WORKLOAD FOR THIS. 10058 05:58:34,611 --> 05:58:38,148 >> IF YOU TRY AND BE 10059 05:58:38,148 --> 05:58:45,422 COMPREHENSIVE, -- THERE MUST BE 10060 05:58:45,422 --> 05:58:45,789 SOME MEAT TO IT. 10061 05:58:45,789 --> 05:58:51,061 >> THE REFERENCES, A REVIEW 10062 05:58:51,061 --> 05:58:52,229 ARTICLE OF THE -- FOR THE LAST 10063 05:58:52,229 --> 05:58:53,630 10 YEARS. 10064 05:58:53,630 --> 05:58:56,099 OKAY. 10065 05:58:56,099 --> 05:58:57,067 THANKS, MAYBE WE'LL CHAT ABOUT 10066 05:58:57,067 --> 05:58:58,034 THAT MORE AT THE STEERING 10067 05:58:58,034 --> 05:59:00,137 COMMITTEE. 10068 05:59:00,137 --> 05:59:02,873 >> DR. CRISWELL? 10069 05:59:02,873 --> 05:59:04,608 >> THANKS VERY MUCH FOR THAT 10070 05:59:04,608 --> 05:59:04,841 SUMMARY. 10071 05:59:04,841 --> 05:59:06,576 I'M SO PLEASED TO HEAR HOW MUCH 10072 05:59:06,576 --> 05:59:10,580 PROGRESS HAS BEEN MADE ALREADY. 10073 05:59:10,580 --> 05:59:12,516 AND I'M GRATEFUL TO THOSE WHO 10074 05:59:12,516 --> 05:59:15,352 HAVE AGREED TO BE CO-CHAIRS AND 10075 05:59:15,352 --> 05:59:16,553 ALL THE WORKING GROUP MEMBERS. 10076 05:59:16,553 --> 05:59:20,323 THIS IS REALLY IMPORTANT. 10077 05:59:20,323 --> 05:59:20,924 I ALSO APPRECIATE AND I THINK 10078 05:59:20,924 --> 05:59:21,491 IT'S HIGHLY APPROPRIATE TO 10079 05:59:21,491 --> 05:59:25,762 UNDERSTAND THE T THE STRATEGIC S 10080 05:59:25,762 --> 05:59:27,364 FOR THE ADVOCACY AND THINK ABOUT 10081 05:59:27,364 --> 05:59:28,064 HARMONIZING, ALIGNING WITH THEM 10082 05:59:28,064 --> 05:59:31,268 SO THAT THERE'S SOME SORT OF AT 10083 05:59:31,268 --> 05:59:32,969 SOME LEVEL CONSENSUS STATEMENT 10084 05:59:32,969 --> 05:59:34,004 FROM THIS BROADER RESEARCH 10085 05:59:34,004 --> 05:59:36,106 COMMUNITY, SO I'M REALLY LOOKING 10086 05:59:36,106 --> 05:59:36,907 FORWARD TO SEE HOW THIS EVOLVES. 10087 05:59:36,907 --> 05:59:38,341 THANKS, GLEN, AND EVERYBODY ELSE 10088 05:59:38,341 --> 05:59:41,711 WHO'S BEEN THINKING ABOUT THIS 10089 05:59:41,711 --> 05:59:49,252 ALREADY. 10090 05:59:49,252 --> 05:59:50,487 >> WONDERFUL. 10091 05:59:50,487 --> 05:59:52,756 WE'RE WAITING FOR MI MORE 10092 05:59:52,756 --> 05:59:56,259 QUESTIONS OR COMMENTS ON THE 10093 05:59:56,259 --> 06:00:06,236 PROPOSED PLAN GOING FORWARD. 10094 06:00:06,236 --> 06:00:07,437 ALL RIGHT. 10095 06:00:07,437 --> 06:00:08,205 WELL, I CAN'T BELIEVE IT, BUT WE 10096 06:00:08,205 --> 06:00:11,808 ARE JUST ABOUT ON TIME. 10097 06:00:11,808 --> 06:00:14,177 I REALLY WANT TO THANK ALL OF 10098 06:00:14,177 --> 06:00:14,978 OUR PRESENTERS TODAY. 10099 06:00:14,978 --> 06:00:18,348 I WANT TO THANK THE CONTRACTORS 10100 06:00:18,348 --> 06:00:20,517 WHO HAVE REALLY HELPED IN TERM 10101 06:00:20,517 --> 06:00:22,419 OF RUNNING A VERY SMOOTH HYBRID 10102 06:00:22,419 --> 06:00:24,654 MEETING. 10103 06:00:24,654 --> 06:00:28,758 I WANT TO THANK GLEN NUCKOLLS 10104 06:00:28,758 --> 06:00:30,927 AND HIS STAFF FOR THEIR ENORMOUS 10105 06:00:30,927 --> 06:00:32,295 PREPARATION FOR THIS MEETING. 10106 06:00:32,295 --> 06:00:35,498 I MEAN, WE'VE PACKED IN A LOT OF 10107 06:00:35,498 --> 06:00:35,799 INFORMATION. 10108 06:00:35,799 --> 06:00:38,902 SOME OF THE KEYWORDS THAT I HAVE 10109 06:00:38,902 --> 06:00:39,436 WRITTEN DOWN AS WE'VE GONE 10110 06:00:39,436 --> 06:00:40,804 THROUGH THE MEETING TODAY, WE 10111 06:00:40,804 --> 06:00:44,641 TALKED A LOT ABOUT CLINICAL 10112 06:00:44,641 --> 06:00:46,843 TRIALS AND INCLUSIVITY AND 10113 06:00:46,843 --> 06:00:49,346 SPECIFICALLY RESTRICTIONS ON WHO 10114 06:00:49,346 --> 06:00:52,749 CANNOT PARTICIPATE IN CLINICAL 10115 06:00:52,749 --> 06:00:53,750 TRIALS, SO HOPEFULLY THAT'S 10116 06:00:53,750 --> 06:00:55,452 SOMETHING THAT WILL BE ADDRESSED 10117 06:00:55,452 --> 06:00:56,519 GOING FORWARD. 10118 06:00:56,519 --> 06:00:59,055 WHETHER IT IS RESTRICTION BY AGE 10119 06:00:59,055 --> 06:01:00,624 OR RESTRICTION BY MOBILITY, I 10120 06:01:00,624 --> 06:01:03,994 THINK THAT'S REALLY IMPORTANT. 10121 06:01:03,994 --> 06:01:06,196 WE TALKED ABOUT CLINICAL END 10122 06:01:06,196 --> 06:01:08,765 POINTS, AND HOW IMPORTANT IT IS 10123 06:01:08,765 --> 06:01:11,668 TO DEVELOP RELIABLE AND VALID 10124 06:01:11,668 --> 06:01:12,135 END POINTS. 10125 06:01:12,135 --> 06:01:14,738 WE ALSO TALKED ABOUT THE LONG 10126 06:01:14,738 --> 06:01:18,141 TERM IMPACT OF THERAPY, WHICH -- 10127 06:01:18,141 --> 06:01:22,846 WE'RE ALL PIONEERS IN THE SPACE, 10128 06:01:22,846 --> 06:01:24,481 AND THERE'S GOING TO BE A 10129 06:01:24,481 --> 06:01:27,083 KNOWLEDGE GAP ABOUT THE 10130 06:01:27,083 --> 06:01:30,887 LONG-TERM EFFECTS OF THERAPY. 10131 06:01:30,887 --> 06:01:32,422 WE TALKED ABOUT DATA SHARING, 10132 06:01:32,422 --> 06:01:34,424 WHICH IS CLEARLY IMPORTANT 10133 06:01:34,424 --> 06:01:35,792 ACROSS NIH. 10134 06:01:35,792 --> 06:01:38,361 WE TALKED ABOUT REGULATORY 10135 06:01:38,361 --> 06:01:40,563 REVIEW, AND VERY IMPORTANTLY, WE 10136 06:01:40,563 --> 06:01:42,632 TALKED ABOUT PATIENT-CENTERED 10137 06:01:42,632 --> 06:01:46,736 RESEARCH AS EXEMPLIFIED BY THE 10138 06:01:46,736 --> 06:01:53,109 LIVED EXPERIENCE OF JEN AND HER 10139 06:01:53,109 --> 06:01:53,543 SON. 10140 06:01:53,543 --> 06:01:54,944 I HOPE THAT WE'LL HEAR MORE OF 10141 06:01:54,944 --> 06:01:56,680 THOSE KINDS OF EXPERIENCES. 10142 06:01:56,680 --> 06:01:59,015 MY ONLY REGRET WAS WE DIDN'T 10143 06:01:59,015 --> 06:02:00,750 HAVE ENOUGH TIME TO REALLY ASK 10144 06:02:00,750 --> 06:02:02,652 MORE QUESTIONS ABOUT THE WHOLE 10145 06:02:02,652 --> 06:02:03,787 EXPERIENCE. 10146 06:02:03,787 --> 06:02:05,422 AND IT WILL BE WONDERFUL TO HEAR 10147 06:02:05,422 --> 06:02:08,658 ABOUT THE EXPERIENCE IN SOMEONE 10148 06:02:08,658 --> 06:02:13,563 WHO PERHAPS IS LESS MEDICALLY 10149 06:02:13,563 --> 06:02:16,132 SAVVY, JUST TO HEAR HOW THAT 10150 06:02:16,132 --> 06:02:18,001 EXPERIENCE GOES. 10151 06:02:18,001 --> 06:02:19,736 SO I REALLY WANT TO THANK, 10152 06:02:19,736 --> 06:02:20,704 AGAIN, ALL THE PRESENTERS. 10153 06:02:20,704 --> 06:02:23,573 I THINK IT'S BEEN AN INCREDIBLE 10154 06:02:23,573 --> 06:02:24,908 MEETING. 10155 06:02:24,908 --> 06:02:26,776 IT'S, AGAIN, MY PRIVILEGE TO 10156 06:02:26,776 --> 06:02:28,545 CHAIR THIS COMMITTEE FOR THE 10157 06:02:28,545 --> 06:02:30,313 LAST FOUR YEARS. 10158 06:02:30,313 --> 06:02:35,885 I'M HANDING OVER THE ACTION PLAN 10159 06:02:35,885 --> 06:02:37,787 TO DR. CRISWELL TO CHAIR, AND I 10160 06:02:37,787 --> 06:02:39,589 KNOW SHE'S GOING TO DO A 10161 06:02:39,589 --> 06:02:41,524 FANTASTIC JOB. 10162 06:02:41,524 --> 06:02:43,893 AND I SPEAK FOR MYSELF AND 10163 06:02:43,893 --> 06:02:44,894 DR. KOROSHETZ THAT WE ARE 10164 06:02:44,894 --> 06:02:48,264 AVAILABLE TO HELP YOU ALONG THE 10165 06:02:48,264 --> 06:02:51,701 WAY, AND IT'S JUST -- YOU KNOW, 10166 06:02:51,701 --> 06:02:53,737 FOR THOSE OF US WHO STARTED IN 10167 06:02:53,737 --> 06:02:54,738 GENETICS, FOR EXAMPLE, WHEN IT 10168 06:02:54,738 --> 06:02:57,207 WAS ALL ABOUT DIAGNOSIS. 10169 06:02:57,207 --> 06:03:00,243 I MEAN, IT'S JUST AN INCREDIBLE 10170 06:03:00,243 --> 06:03:01,911 PRIVILEGE TO BE ABLE TO SEE THE 10171 06:03:01,911 --> 06:03:04,180 PROGRESS AND THE CHALLENGES WITH 10172 06:03:04,180 --> 06:03:05,115 REGARD TO THERAPY. 10173 06:03:05,115 --> 06:03:07,350 BUT WE DO HAVE THERAPY, SO 10174 06:03:07,350 --> 06:03:09,586 THAT'S REALLY, REALLY EXCITING. 10175 06:03:09,586 --> 06:03:12,255 SO WITH THAT, I'M GOING TO HAND 10176 06:03:12,255 --> 06:03:15,125 IT OVER BACK TO GLEN, IF HE 10177 06:03:15,125 --> 06:03:17,227 WANTS TO HAVE ANY FURTHER 10178 06:03:17,227 --> 06:03:18,528 REMARKS AND THEN WE WILL LET 10179 06:03:18,528 --> 06:03:22,132 EVERYBODY GO AND I WANT TO WISH 10180 06:03:22,132 --> 06:03:24,267 EVERYONE A VERY HAPPY HOLIDAY, 10181 06:03:24,267 --> 06:03:25,635 HOLIDAYS, WHATEVER YOU'RE 10182 06:03:25,635 --> 06:03:27,637 CELEBRATING, AND A VERY HEALTHY 10183 06:03:27,637 --> 06:03:30,774 NEW YEAR FOR ALL. 10184 06:03:30,774 --> 06:03:32,242 SO GLEN, OVER TO YOU. 10185 06:03:32,242 --> 06:03:33,743 >> THANKS, DR. BIANCHI, AND 10186 06:03:33,743 --> 06:03:35,178 THANKS FOR CHAIRING THIS AND 10187 06:03:35,178 --> 06:03:36,179 PREVIOUS MEETINGS. 10188 06:03:36,179 --> 06:03:38,882 SO WE HAVE NOT YET SELECTED THE 10189 06:03:38,882 --> 06:03:42,285 DATE FOR OUR NEXT MEETING, WHICH 10190 06:03:42,285 --> 06:03:46,089 WILL BE SOMEWHERE PROBABLY 10191 06:03:46,089 --> 06:03:48,057 APRIL, MAY-ISH 2024, BUT WE'RE 10192 06:03:48,057 --> 06:03:53,329 WORKING ON A DATE FOR THAT. 10193 06:03:53,329 --> 06:03:53,930 IF ANYBODY HAS SUGGESTIONS FOR 10194 06:03:53,930 --> 06:03:55,131 TOPICS THAT YOU THINK WE SHOULD 10195 06:03:55,131 --> 06:03:56,065 COVER, THEN PLEASE SEND THE 10196 06:03:56,065 --> 06:03:59,402 IDEAS TO ME. 10197 06:03:59,402 --> 06:04:03,940 AND WITHOUT FURTHER ISSUES, YOU 10198 06:04:03,940 --> 06:04:04,908 KNOW, THANKS, EVERYBODY. 10199 06:04:04,908 --> 06:04:05,942 THANKS FOR PARTICIPATING IN OUR 10200 06:04:05,942 --> 06:04:09,446 MEETING. 10201 06:04:09,446 --> 06:04:10,814 >> THANK YOU. 10202 06:04:10,814 --> 06:04:13,416 >> THANK YOU. 10203 06:04:13,416 --> 06:04:23,793 HAVE A GOOD HOLIDAYS.