WELCOME EVERYONE TO THE DECEMBER 2021 MEETING OF THE MUSCULAR DYSTROPHY COORDINATING COMMITTEE MEETING. I AM GLEN NUCKOLLS, THE DESIGNATED FEDERAL OFFICIAL AND PROGRAM DIRECTOR IN THE DIVISION OF NEUROSCIENCE WITH THE NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE. START WITH A ROUND OF COMMITTEE MEMBERS IN ALPHABETICAL ORDER STARTING WITH OUR CHAIR DR. BIANCHI. >> HELLO EVERYONE. I'M DIANA BIANCHI, THE DIRECTOR OF THE EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT. >> DR. CHRISWELL. >> I'M LINDSEY CHRISWELL, THE DIRECTOR OF NATIONAL INSTITUTE OF ARTH RITING OF MUSK CURL SKELETAL SCIENCES. >> HELLO EVERYONE. I AM THE TERRIFIC DIRECTOR AND THE PATIENT ADVOCATE CMD ADVOCATE SPECIALIST. THANK YOU. >> EMILY F FRAYLY: MAY BE EMILY HASN'T JOINED YET. >> HI. I'M DR. EUGENE FREUND. >> MICHAEL GOLDSTEIN. MICHAEL, ARE YOU ON-LINE? >> THIS IS MEGAN WATKINS FROM SS A. I BELIEVE HE IS HAVING TROUBLE JOINING BUT I BELIEVE HE'LL BE WITH US IN A FEW MOMENTS. >> THANKS MEGAN. WE'LL LOOP AROUND LATER. >> GOOD AFTERNOON EVERYONE. I'M ALISHA KEEHN, THE BRANCH CHIEF OF THE OFFICE OF MEDICAL POLICY, SOCIAL SECURITY ADMINISTRATION. >> THANK YOU. JIM KYLIE. JIM, ARE YOU ON-LINE WITH US. >> HI GLENN, THIS IS JIM. GOOD AFTERNOON EVERYONE. I'M THE DIRECTOR OF DIVISION OF LUNG DISEASES OF THE NATIONAL HEART LINE AND BLOOD INSTITUTE AT THE NIH. >> GOOD AFTERNOON. I'M THE DIRECTOR OF NATIONAL INSTITUTE OF NEUROLOGICAL DIVISION OF STROKE. GLAD TO BE HERE. >> JEN LEVEE. >> I'M THE SCIENTIFIC DIRECTOR, AN ORGANIZATION THAT FUNDS RESEARCH TOWARDS MUSCULAR DYSTROPHY TYPE 2A. >> MARY McGIRE. I THOUGHT I SAW MARRYLANA. >> SORRY ABOUT THAT. HI. I'M MARRYANA McGIRE, THE PROGRAM DIRECTOR FOR THE DOD, WHICH IS HOUSED AT THE CON GRESSIONALLY PROGRAMS OFFICE. THANKS. >> AND DEBRA MILLER. >> HI. GOOD MORNING FROM CALIFORNIA. I'M THE CEO AND FOUNDER OF C UREDUCHENNE AND I'M VERY AND HONORED AND HAPPY TO BE APART OF THIS COMMITTEE. THANK YOU. >> DAN PEREZ. >> GOOD AFTERNOON FROM BOSTON. I'M THE CO-FOUNDER AND DIRECTOR OF ARCHIVES OF THE SSAD SOCIETY WORKING ON GAPS IN MUSCULAR DYSTROPHY. GOOD TO BE HERE TODAY AND THANK YOU FOR HAVING US. THANK YOU. >> AND TERESA SANAGUTAN. TERESA MAY BE ON-LINE. SHE IS HEARING IMPAIRED. HOPEFULLY SHE CAN FIND AN OPPORTUNITY TO INTRODUCE HERSELF DURING THE MEETING. NATALIE STREET. HI. I'M A HEALTH SCIENTIST WITHIN THE HEALTH ADVOCATES TEAM WITH THE CENTERS AND DISEASE CONTROL PREVENTION WHERE THE MUSCULAR DYSTROPHY ACTIVITIES ARE HELD. >> AND AS EMILY FRAYLY JOINED. >> YES. SORRY THIS IS EMILY FRAYLY, PEDIATRIC NEUROLOGIST AT THE FDA AND DIVISION OF NEUROLOGY 1. >> AND MICHAEL GOLDSTEIN. >> HI EVERYONE. I'M MICHAEL GOLDSTEIN. I'M THE DIRECTOR OF THE MEDICAL POLICY AT THE SOCIAL SECURITY ADMINISTRATION. SO THIS MEETING IS BEING CONDUCT ED IN COMPLIANCE WITH THE FEDERAL ADVISORY COMMITTEE ACT TO ENSURE THE COMMITTEE PROVIDES EXPERT ADVICE AND DIVERSE OPINIONS TO INFORM DIVISION MAKING OF THE FEDERAL GOVERNMENT IN A MANNER THAT'S TRANSPARENT AND FREE OF CONFLICTS OF INTERESTS. THERE IS NO CLOSED SESSION PLANNED FOR THIS MEETING AND WE DON'T ANTICIPATE DISCUSSIONS OF ACTIONS TO THE FINANCIAL INTEREST OF OUR MEMBERS SO WE DON'T FORESEE THE NEED FOR ANY RECUSALS. THE MEETING IS STREAMED LIVE FOR PUBLIC VIEWING AND BEING RECORD ED. THE STREAM AND RECORDING ARE AVAILABLE AT VIDEOCAST.NIH.GOV AND WE'LL ALSO PUT A LINK ON OUR WEBSITE WHICH IS MDCC.NIH.GOV. WE DID POST A NOTICE TO THE FEDERAL REGISTER ABOUT THIS MEET ING BUT DID NOT RECEIVE ANY REQUESTS TO ADDRESS THE COMMITTEE SO WE HAVE NOT SCHEDULED A PUBLIC COMMENT DURING THIS MEETING. FIRSTLY, WE'D LIKE TO THANK RYAN FISHER FROM PARENT PROJECT MUSCULAR DYSTROPHY FOR HIS THREE YEARS OF SERVICE ON THE COMMITTEE. RYAN ALWAYS BRINGS TO OUR MEETINGS HIS ENTHUSIASM AND DEBT OF KNOWLEDGE. ALSO JEN HAS DONE REALLY AMAZING WORK AS THE SCIENTIFIC DIRECTOR AS THE COALITION TO CURE TO AD VANCE A FIELD FOR LIMN GURNAL MUSCULAR DYSTROPHIES. WE THANK YOU JEN FOR YOUR SERVICES. OUR CHAIR DR. BIANCHI HAS SERVED A TWO YEAR TERM AND OUR COMMITTEE HAS VOTED BY E-MAIL EARLIER THIS WEEK OR LAST WEEK AND UNANIMOUSLY ENDORSED A PROPOSAL THAT SHE CONTINUE AS THE MDCC CHAIR FOR 2022 AND 2023 SO DR. BIANCHI, I KNOW I SPEAK FOR THE COMMITTEE IN THANKING YOU FOR YOUR LEADERSHIP AND I LOOK FORWARD TO CONTINUING OUR WORK TOGETHER. SO I'D LIKE TO ACKNOWLEDGE SOME OF THE STAFF THAT HAVE HELPED PREPARE FOR THIS MEETING AND THOSE THAT HELP MANAGE MEMBERSHIP AND HANDLE REPORTING REQUIREMENTS AND SO FORTH INCLUDING MARIE SUPREE, KELLY BAKE, CHELSEY LANCEN AND DEBBY YANG AND ALL AT NINDS. AND THANKS TO OUR COLLEAGUES FOR RUNNING THIS MEETING. WE RECOGNIZE COMMITTEE MEMBERS AND STAFF THAT ARE PANELISTS FOR THIS MEETING REMAIN MUTED EXCEPT WHEN ASKING QUESTIONS. EVERYONE CAN EITHER RAISE YOUR HAND, USE THE FEATURE IN ZOOM, RAISE YOUR HAND OR TYPE YOUR QUESTIONS IN THE Q&A BOX AND I'M HAPPY TO READ THOSE QUESTIONS OUT FOR YOU. SO WE'RE ALWAYS LOOKING FOR TOP IC IDEAS FOR FUTURE MEETINGS, SO IF YOU HAVE ANY SUGGESTIONS FOR MDCC MEETINGS PLEA CONTACT ME AND LET ME KNOW. IF THERE ARE NO OTHER QUESTIONS FOR ME I'LL TURN THE MEETING OVER TO OUR CHAIR, DR. BIANCHI. DR. BIANCHI: THANK YOU VERY MUCH , GLENN, IT IS A PRIVILEGE TO BE ABLE TO CHAIR THIS COMMITTEE FOR ANOTHER TWO YEARS. I'VE CERTAINLY LEARNED A LOT IN THE PAST TWO YEARS. IN GETTING MY PRESENTATION READY , I'D SPECIFICALLY LIKE TO ACKNOWLEDGE THE ASSISTANCE OF ELIZABETH BADEN, CHIEF OF STAFF, TRACY KING AND LAURA BURKESON, AMONG OTHERS. SO LET ME SEE IF I CAN SHARE MY SCREEN AND HOPEFULLY GO INTO PRESENTATION MODE. GLENN, CAN YOU GIVE ME THE THUMB S UP IF YOU CAN SEE IT IN PRESENTATION MODE. I'M HOPING EVERYONE CAN SEE THIS IN PRESENTATION MOTE. >> NOT YET. >> NOT YET? NO? I SEE IT ON MY SCREEN. THAT'S BIZARRE. IS THERE A DELAY OF SOME KIND? CAN YOU SEE THE PRESENTATION? >> NO, WE JUST SEE YOU. >> WE CAN RUN IT FOR YOU, IF YOU'D LIKE. >> NO, NO. ALWAYS SOMETHING, RIGHT. LET'S TRY IT AGAIN. [LAUGHS] NOW YOU SHOULD SEE. SOMEBODY NEEDS MUTE. THAT'S GOING TO BE A LITTLE BIT DISTRACTING. OKAY NOW WE HAVE PRESENTATION MODE. >> YES. >> PERFECT. IF EVERYONE COULD PLEASE MUTE THAT WOULD BE VERY HELPFUL. THANK YOU. ALL RIGHT. NOW WE CAN BEGIN. AGAIN, WE WELCOMED EVERYONE. TODAY I'M GOING TO SAY BRIEF THINK THINGS AND THEN TALK ABOUT GENOMIC INITIATIVES AND REVIEW ADVANCES IN MUSCULAR DYSTROPHY RESEARCH SINCE WE LAST MET AND THEN I'D LIKE TO GIVE YOU AN UPDATE ON NIH EFFORTS TO SUPPORT INCLUSION AND ACCESSIBILITY AND THAT WILL LEAD US TO OUR THEME IN TODAY'S MEETING. I WISH I COULD GIVE YOU BETTER NEWS ON OUR BUDGE. YOU KNOW WE'RE UNDER CONTINUING RESOLUTION THROUGH FEBRUARY 18 th OF 2022. THE HOUSE AND THE SENATE BILLS ARE REALLY REMARKABLY SIMILAR. I DON'T THINK THERE IS A WHOLE LOT OF DISAGREEMENT BETWEEN THEM , BUT THAT BUDGET IS EM BEDDED WITHIN A BIGGER BUDGET, WHICH HAS A LOT OF THINGS THAT ARE UNDER DISCUSSION. IN ADDITION, YOU PROBABLY HEARD IN THE NEWS OVER THE WEEKEND ABOUT THE BUILD BACK BETTER ACT, WHICH IS UNDER RECONCILIATION AND PROBABLY NOTHING IS GOING TO BE HAPPENING OVER THE HOLIDAYS, BUT OF PARTICULAR INTREST, RELATED TO WHAT WE'RE GOING TO BE TALKING ABOUT LATER ON IS THAT IT WOULD PROVIDE $75 MILLION TO NIH TO MAINTAIN AND EXPAND PROGRAMS TO INCREASE RESEARCH CAPACITY AT MINORITY SERVING INSTITUTIONS AND ALSO SUPPORT CENTERS OF EXCELLENCE AND ENHANCE EFFORTS TO DIVERSIFY THE NATIONAL SCIENTIFIC WORK FORCE, AND FURTHERMORE, SUPPORT AND EXPAND THE ACTIVITIES OF THE SCIENTIFIC WORKFORCE DIVERSITY OFFICE. WE'RE GOING TO MENTION A COUPLE OF NIH GENOMIC INITIATIVES AND ONE IS THIS -- OOPS, SORRY, THE SPOKE GENE THERAPY CONSORTIUM, WHICH IS A NEW PART OF THE NIH ACCELERATED MEDICINES PARTNERSHIP, WHICH WE SOMETIMES REFER TO AS AMP, WHICH IS REALLY A LANDMARK PUBLIC/PRIVATE PARTNERSHIP WITH THE FOUNDATION FOR NIH, THE FDA AND PRIVATE ORGANIZATIONS. AND WHILE WE'RE MENTIONING IT HERE IS IT IS OF GREAT INTEREST TO PEOPLE WHO HAVE RARE SINGLE- GENE DISORDERS THAT MIGHT EFFECT MOBILITY AND COORDINATION AND THE SPOKE GENE THERAPY CONSORTIUM WILL AIM TO SPEED THE DEVELOPMENT AND DELIVERY OF CUSTOMIZED GENE THERAPIES THAT COULD TREAT RARE DISEASES AND WHAT THIS WILL DO IS IT WILL OPTIMIZE THE CREATION OF ADNONE VIRUSES, WHICH HAS BEEN A STUM BLING BLOCK TO DATE AND AREA OF CONCERN FOR THE COMMERCIAL SECTOR. THIS WILL ALLOW US, WITH OUR PARTNERS TO CONDUCT CLINICAL TRIALS USING AAVs TO TREAT RARE DISORDERS AND HOPEFULLY, AS I SAID, THIS WILL DE-RISK THE AREA FOR THE COMMERCIAL SECTOR AND THEREFORE CREATE A STRAIGHT- FORWARD PATH FOR FDA APPROVAL. THERE IS ANOTHER PROGRAM THE SEMATIC CELL GENOME EDITING PROGRAM WHICH HAS THE OVERARCH ING GOAL TO IMPROVE THE EFFICACY AND THE SPECIFICITY OF GENOME EDITING APPROACHES TO REDUCE THE OVERALL DISEASES. SO THE TOOLKIT INVOLVES DEVELOPING NOVEL TECHNOLOGIES THAT EDIT AND DELIVER TOOLS THAT TARGET SPECIFIC GENES AND TISSUE S, IT ALLOWS INVESTIGATORS TO BUILD A FOUNDATION FOR CLIN ICAL APPLICATIONS AND PERFORM SAFETY AND EFFICACY TEST ING OF THESE TOOLS USING NEW METHODS, PLATFORMS AND NEW MODEL S AND THEN DELIVER RESOURCE S TO ACCELERATE TREATMENTS. SO THERE IS A TOOLKIT FOR THERAPEUTIC GENOME EDITING TO BE SHARED WITH THE COMMUNITY. AND AGAIN, THIS IS ANOTHER WAY OF ADDRESSING RARE GENETIC DIS ORDERS. FURTHERMORE, THE FIRST ADVANCE OF MUSCULAR DYSTROPHY RESEARCH THAT I'M GOING TO PRESENT ACTUALLY USE SOME OF THESE TECHNIQUES IN GENOME EDITING AND THIS INVOLVES A PUBLICATION THAT WAS SUPPORTED BY NIMS, AND THE DEPARTMENT OF DEFENSE, WAS RECENTLY PUBLISHED IN THE GENERAL MOLECULAR THERAPY AND INVOLVE AS FULL-LENGTH REST ILATION VIA TARGETED EXON INTEGRATION BY AAE CHRISPER TECHNIQUE IN A HUMANIZED MOUSE SMALL OF DUCHENNE. MANY GENE-EDITING STRATEGIES FOLKANCE REMOVALORALLY DISRUPTION RATHER THAN REPAIR OF THE GENOMIC DNA AND THEN THERE IS A TECHNIQUE CALLED HUMEOLOGY INDEPENDENT TARGETED INTEGRATION WITH CHRISPER CAST 9 THAT CAN EFFECTIVELY INSERT DNA SEQUENCES AT TARGETED GENOMIC LOSIGH. SO THIS GROUP IS AN ADNONE ASSOCIATED VIRUS BASED APPROACH TO INSERT THE MISSING HUMAN EXON 52 WITHIN THE DMV GENE IN A HUMANIZED MOUSE MODEL OF THE DCH ENNE AND THIS ALLOWED FULL LENGTH OF STROKE AND CORRECTION IN BOTH SKELETAL AND CARDIAC MUSCLE, THE IS REALLY AMAZING. AND THIS EXPANDED FULL LENGTH OF CORRECTION STRATEGY TO TREAT ANY GENETIC MUTATION DOWNSTREAM OF EXON 51. THE NEXT ADVANCE THAT WE CHOSE TO HIGHLIGHT IS THE POTENTIAL THERAPEUTIC APPROACH FOR DMD ASSOCIATED CARD CARDIOMYOPATHY. AND THIS PUBLICATION APPEARED IN THE FALL IN CIRCULATION RESEARCH AND LITTLE IS KNOWN ABOUT THE POTENTIAL GENE EDITING TO MITIGATE CARDIAC ABNORMALITIES IN DUCHENNE. RESEARCHERS IN THIS CASE REDUCED CELLS FROM A LOCATION WITH A DELETION OF EXON 44 IN THE DMD GENE AND ALSO GENERATED STEM CELLS FROM THE PATIENT'S HEALTHY BROTHER. THEY THEN USED CHRISPER CASP 9 IN GENOME EDITING TO CREATE IPS LINES AND SHOW THAT YOU COULD CORRECT CARDIO MISITES AND THESE CORRECTED CELLS SHOW IMPROVED CHARACTERISTICS. SO THE EFFECTS WERE EXTENDED TO POST-NATAL EDITING IN IPSC DRIV ED CARDIO MITESITES IN MICE, IN BOTH HUMAN AND MOUSE MODELS. NOW WE'RE A LITTLE BIT FROZEN HERE. TYPE TWO OR DMV2. THIS PUBLICATION, THIS STUDY WAS SUPPORTED BY NINDS AND PUBLISHED IN THE JOURNAL OF MEDICINAL CHEMISTRY. AND AS YOU ALL KNOW, MITONIC TYPE 2 IS CAUSED BY EXPANSION OF THE NUCLETIDE REPEAT WHICH LEADS TO A SPLICING FACTOR. THESE RESEARCHERS, WAGNER GRIFFIN, SCREEN DRUG LIKE SMALL MOLECULES TO IDENTIFY COMPOUNDS THAT BIND THE EXPANDED CCG RE PEAT AND THIS IMPROVED THE FUNCTION OF THE SLICING FACTOR. THEY TESTED THESE COMPOUNDS IN D MD2 MOUSE MODELS AND SHOWED CLINICAL IMPROVEMENT IN DM2 ASSOCIATED DEFECTS. WHY THIS JUST FREEZES, I APOLOGIZE. THERE WE GO. THE NEXT PUBLICATION IS A POTENTIAL NEW THERAPEUTIC PATH WAY FOR FSHD, WHICH WE TALK ED ABOUT IN THE LAST MEETING IS ASSOCIATED WITH THE DUCTS 4 GENE AND THIS WAS A STUDY THAT WAS PUBLISHED IN NATURE GENETICS SUPPORTED BY NICHD, NCI AND IN CATS AND THESE RESEARCHERS FOUND THAT THE TUMOR SUPPRESSOR PROTEIN PP3 ACTIVATES DUCTS 4 AND CELLS FROM FSSD PATIENTS AND MAY BE COUPLED TO DUCTS 4 ACT IVATION DURING EMBRYONIC DEVELOPMENT. SO THIS POTENTIALLY IGNITES THE DEVELOPMENT DEVELOPMENTAL OF DUCTS FAMILY FACTORS AND THIS WILL POSSIBLY PROVIDE NEW THERAPEUTIC OPPORTUNITIES FOR FS HD. THERE IS SOMETHING ABOUT HAVING THIS DOWN HERE THAT JUST FREEZES THE SCREEN. ALL RIGHT. SO NOW I'D LIKE TO TALK ABOUT NIH EFFORTS TO SUPPORT EQUITY DI VERSITY, INCLUSION AND ACCESSIBILITY WHICH IS VERY IMPORTANT TO ALL OF US AND THAT WILL PROVIDE THE SEGUE INTO OUR THEME OF THE DAY. SO HERE ARE THE NIH ACTIVITY TO PROMOTE PEOPLE WITH DISABILITIES IN THE BIOMEDICAL WORKFORCE. THERE HAS BEEN A SPECIFIC ADVISORY, SPECIFIC WORKING GROUP WITHIN THE ADVISORY COMMITTEE TO THE NIH DIRECTOR, THIS ACD COMMITTEE MEETS TWICE A YEAR, THEY JUST MET LAST WEEK AND THEY'VE ESTABLISHED A SUB COMMITTEE ON PEOPLE WITH DIS ABILITY TO BRING THE IMPORTANCE OF THIS TOPIC REALLY TO THE HIGHEST LEVEL. THEY'VE CHARGED US THEN TO PROVIDE GUIDANCE IN INCREASING NIH'S CAPACITY TO UNDERSTAND ACCESSIBILITY BARRIERS, COMBAT ABLISM AND ENSURE GREATER ACCESS FOR EXTERNAL AND FUNDED SCIENTISTS. MEMBERSHIP ON THE COMMITTEE IN CLUDES THREE FORMER MEMBERS OF THE NATIONAL ADVISORY BOARD FOR MEDICAL REHABILITATION. THE MCRR DIRECTOR AN NICHD PROGRAM OFFICER. NOTICE OF NIH ENCOURAGEMENT OF APPLICATIONS AS WELL AS INDIVIDUALS WITH DISABILITIES IS IN THE LINK HERE. I REALLY WOULD LIKE TO GIVE A SHOUTOUT TO BOTH OUR MCRR STAFF WHO ARE WITHIN-- REALLY HAVE ADVOCATED FOR INCLUSION OF THIS VERY IMPORTANT GROUP WITHIN THE OVERALL EFFORTS TO INCREASE DIVERSITY. SORRY. I DON'T KNOW WHY THIS KEEPS DOING THIS. WELL NOW I'M REALLY MAKING A MESS OF THINGS. OH, LOVELY, LOVELY. THERE WE GO. SO PERHAPS YOU'VE HEARD IN OTHER CONTACTS OR HEARD OTHER PRESENTATIONS ABOUT THE OVERALL UNITE EFFORTS AT NIH. THE U STANDS FOR UNDERSTANDING STAKEHOLDER EXPERIENCES THROUGH LISTENING AND LEARNING. THE N IS REALLY AN EFFORT TO IN CREASE HEALTH DISPARITY RESEARCH AND DO NEW RESEARCH ON THE MINORITY HEALTH AND HEALTH EQUITY. THE I IS REALLY FOCUSING ON IM PROVING THE INTERNAL NIH CULTURE AND STRUCTURE FOR EQUITY INCLUSION AND EXCELLENCE. THE T IS TRANSPARENCY, COMMUNICATION AND ACCOUNTABILITY WITH BOTH OUR INTERNAL AND EXTERNAL STAKEHOLDERS AND THE E STANDS FOR THE EXTERNAL RESEARCH ECOSYSTEM THAT IS FOCUSED ON CHANGING POLICY, CULTURE AND STRUCTURE TO PROMOTE WORKFORCE DIVERSITY. SOME OF THE PROGRESS MADE SINCE THIS INITIATIVE WAS FIRST ROLLED OUT INCLUDES UNITE ISSUED A REQUEST FOR -- I DON'T KNOW WHY IT IS PAUSED HERE. DOES ANYBODY KNOW HOW TO UNDO PAUSING? >> BERRY DO YOU HAVE ANY SUGGESTIONS? >> IT IS PAUSED? >> DR. BIANCHI: I THINK WE'RE GOOD. I THINK I FIXED IT. I APOLOGIZE. I DON'T KNOW WHY IT IS DOING THIS. SO SOME OF THE MILESTONES AND PROGRESS THAT OCCURRED ALREADY, THE UNITE GROUP ISSUED A REQUEST FOR INFORMATION INVITING COMMENTS AND SUGGESTIONS TO AD VANCE THE STRENGTH IN RACIAL EQUITY, DIVERSITY, INCLUSION AND ACCESSIBILITY IN THE BIOMEDICAL WORKFORCE AND ADVANCE HEALTH DISPARITIES AND HEALTH EQUITY RESEARCH. THIS CLOSED IN THE SPRING AND THEY RECEIVED MORE THAN 1,000 RE RERERESPONSES AND ALSO PUBLISHED TRANSFORMATIVE RESEARCH TO ADDRESS HEALTH DISPARITIES IN AD VANCE CALLED EQUITY. HERE ARE SOME OF THE LINKS TO THOSE RFAEST. THEY ALSO ESTABLISHED AN ANTI- RACISM STEERING COMMITTEE WITH MORE THAN 515 NIH STAFF MEM BER VOLUNTEERS AND WE ARE ALL OF THE INSTITUTES ARE DEVELOPING RACIAL AND ETHNIC EQUITY PLANS THAT SET EXPECTATIONS NOT ONLY FOR EACH INSTITUTE BUT FOR EACH INDIVIDUALS PERFORMANCE PLANS. WITH ALL OF THAT ACTIVITY GOING ON AND SOME OF THE INSTITUTES HAVE THEIR OWN INITIATIVES AT NI CHD FOR EXAMPLE WE HAVE THE STRIVE INITIATIVE, WHICH IS ALIGNING WITH THE OVERALL UNITE INITIATIVE. THERE IS REALLY BEEN A FOCUS ON HOW DO WE NOT ONLY DIVERSIFY THE WORKFORCE BUT HOW DO WE DI VERSIFY PARTICIPATION IN RESEARCH. AND THIS WAS REALLY HIGH HIGH LIGHTED IN THE CLINICAL TRIALS OCCURRING OVER A YEAR AGO TO UNDERSTAND WHETHER THE NMRA VACCINES WOULD BE SAME TO PROTECT PEOPLE FROM SARS COVID-2 PROTECTION. AND THE VACCINE MERCHANDISER MANUFACTURERS REALLY INCREASE DI VERSITY IN PARTICIPANTS IN THESE CLINICAL TRIALS IN VACCINE S. WITH ALL OF THIS BACKGROUND IT REALLY LED TO A DISCUSSION AMONGST THOSE OF US PLANNING THE AGENDA FOR THIS MEETING. I ASKED DR. NUCKOLLS, AMONG OTHERS, TO HELP US UNDERSTAND WHETHER THIS WAS AN ISSUE FOR MUSCULAR DYSTROPHY RESEARCH. SO THANKS VERY MUCH TO THE STAFF WHO LOOKED AT THESE NUMBERS, BUT HERE WE HAVE SOME INFORMATION ON SEX, RACE AND ETHNISNY ROLLMENT OF CURRENTLY ACTIVE NIH GRANTS AND THESE INCLUDE GRANTS WITH A DOMESTIC INVOLVED OF 40 PEOPLE OR MORE. YOU CAN SEE THE CONDITIONS ON THE LEFT AND THIS IS COMPARING WHAT WAS PLANNED IN THE GRANT APPLICATION AND WHAT HAS ACTUALLY HAPPEN HAPPENED FROM THE PROGRESS REPORTS. YOU CAN SEE THAT IF YOU'RE NOT COLOR BLIND THAT THE RED SHADING INDICATES THAT THE ACTUAL ENROLL MENT UNFORTUNATELY IS LESS THAN HALF OF PLANNED; HOWEVER, THE GREEN INDICATES THAT THE ACTUAL ENROLLMENT IS MORE THAN DOUBLE AND I BELIEVE THAT WE'RE GOING TO BE HEARING TODAY FROM ONE INVESTIGATOR, FROM VIRGINIA COMMONWEALTH UNIVERSITY, WHO HAS ACHIEVED TARGET FOR THEIR APPLICATION. WE REALLY WANTED TO PRESENT THIS TABLE AS BACKGROUND TO THE IMPORTANCE OF THE PROBLEM THAT WE REALLY NEED TO DO BETTER TO ENSURE THAT WE ARE ENROLLING DI VERSE POPULATIONS PARTICULARLY WHEN WE ARE DOING CLINICAL TRIAL S INVOLVING THERAPEUTICS. SO THAT REALLY LED TO THE SELECTION OF THE PEOPLE PRESENT ING TODAY, WHO HOPEFULLY ARE GOING TO GIVE US SOME IMPORTANT LESSONS AS TO WHAT THEY'VE LEARNED ALONG THE WAY AND HOW WE CAN TAKE THESE LESSON S AND DO BETTER IN TERMS OF ENROLLING ON A MORE DIVERSE POPULATION OF PARTICIPANTS. SO IF MY SCREEN DOESN'T FREEZE AGAIN, AGAIN, SO THIS HAS LED TO TODAY'S THEME FOR OUR MEETING, WHICH IS STRATEGIES TO INCREASE INCLUSION OF RACIAL AND ETHNIC MINORITIES IN RESEARCH STUDIES. AND I HAVE SUPPORTED MUSCULAR DYSTROPHY STUDIES, NOTICE ALL OF THE RED THERE REALLY DO SHOW THAT WE DO HAVE A PROBLEM HERE. THERE IS LOW RECRUITMENT FOR UNDERREPRESENTED MINORITIES. IT IS NOT UNIQUE TO MUSCULAR DYSTROPHY RESEARCH, BUT WITH OUR RENEWED EMPHASIS ON HEALTH DISPARITIES RESEARCH AND MAKING RESEARCH IN PARTICULARLY CLIN ICAL TRIALS AVAILABLE TO ALL WE HOPE THAT THIS WILL GO A LONG WAY TO FACILITATE IMPROVING HEALTH EQUITY. I THINK THAT TIMING OF TODAY'S CONVERSATION IS ESPECIALLY GOOD. SO WITH THOSE INTRODUCTERARY MARKS I'M GOING TO END HERE AND HOPEFULLY ALLOW SOME TIME FOR QUESTIONS AND AGAIN THANK YOU FOR BARING WITH MY FROZEN SCREEN I'M HAPPY TO TAKE QUESTIONS. >> DR. BIANCHI, THERE IS ONE QUESTION FROM THE QUESTION BOX FROM JONATHAN DECKER. WHAT ABOUT LOOKING AT NON-VIRAL GENE THERAPY SINCE A PERSON CAN ONLY BE TREATED ONCE WITH AAV? HE POINTS OUT HE DID PARTICIPATE IN A CLINICAL TRIAL AND HE WOULD HOPE THAT NIH WOULD INVEST IN RESEARCH IN NON-VIRAL GENE THERAPIES. >> OKAY THANK YOU. I SEE THAT MUST HAVE GONE TO YOU AND TO NOT EVERYONE BECAUSE I DON'T SEE THE QUESTION THERE. THANK YOU FOR THAT QUESTION. I CERTAINLY WILL LEAVE THAT TUPE THE PROGRAM OFFICERS AND WE'LL TAKE IT UNDER ADVISEMENT AND I APPRECIATION YOUR PARTICIPATION IN A CLINICAL TRIAL. >> I COULD SAY SOMETHING ABOUT THAT. >> SURE. >> THIS IS WALTER. SO RIGHT, THE ISSUE OF RE-DOSING WITH A VIRAL CARRIER IS DEFINITE LY SEEMS TO BE A PROBLEM NOW, AS YOU KNOW, WITH THE VACCINE, ONE OF THE VACCINES IS AN AAD VACCINE FOR COVID AND THOSE HAVE BEEN RE-ADMINISTERED. SO I THINK IT IS AN AREA OF STUD Y. THERE IS A NEW PROGRAM THAT IS GETTING STARTED WHICH IS ACCEL ERATED MEDICINE POINT IN GENE THERAPY AND LOOKING AT AAV THERAPIES AND TRYING TO DEVELOP ONE THAT COULD POTENTIALLY GET AROUND THIS IMMUNE PROBLEM. IN ADDITION, I'D SAY FROM THE GENE EDITING WORLD WE'RE ALSO FINDING PEOPLE WHO USE NANO PARTICLES TO DELIVER CHRISPER CAST 9 GENE EDITING TOOLS AND POTENTIALLY THOSE COULD SUBSTITUTE SOME DISEASES FOR THE VIRUS. THE ISSUE WITH THE VIRUS IS A LOT OF PEOPLE HAVE HAD SOME EXPOSURE TO IN THE PAST. DEFINITELY SOMETHING THAT WE'RE WORKING ON. >> DR. BIANCHI: THE PROGRAM THAT YOU MENTIONED WALTER THAT IS THE SAME PROGRAM THAT I MENTIONED IN MY TALKS. SO WHAT YOU'RE SAYING IS ONE OF THE TARGETS THAT'S ALREADY BEEN SELECTED WOULD BE THIS APPROACH? >> FOR THE SEMATIC GENE EDITING, ONE AREA WE'RE FUNDING IS NANO PARTICLES TO DELIVER. AND ON THE SECOND PAGE OF THE COUNTERFUND PROJECT THE PLAN IS TO ACTUALLY GET TO PATIENT STUD IES SO WE'RE VERY AMBITIOUS BUT A GOOD CHANCE WE'LL BE ABLE TO DO THAT BECAUSE WE'VE MADE A LOT OF PROGRESS. >> DR. BIANCHI: THANKS FOR THE QUESTION. I SEE DAN HAS A QUESTION. >> DAN: THANK YOU. TO THE QUESTION IN THE COMMENTS. ONE IS IN TERMS OF THE PRESENTATION FROM DR. BIANCHI, I WONDER IF THE AMOUNT OF TIME TO READ THROUGH THE DIFFERENCES AND BRING THE COMMITTEE BACK UP TO SPEED ON, JUST THE CURRENT LITERATURE. I FEEL THAT NIH HAS DONE A LOT OF EXCELLENT RESEARCH ON SSHD AND DOZENS OF REPORTS THAT HAVE COME OUT IN VERY EXCITING AREAS. CHRISPER CAST 9, ANTIBODIES, GENETIC MODELS AND I DON'T THINK -- I THINK WE'VE GOT GOOD COVERAGE. I DID HAVE ONE COMMENT, THE OTHER COMMENT IS THE, I KNOW WE'RE TRYING TO CHANGE EQUITY, DIVERSITY INCLUSION IN CLINICAL TRIALS, I STILL THINK THAT WE'RE STRUGGLING WITHIN THE DYSTROPHY COMMUNITY WHERE WE DO NOT HAVE EQUITY, DIVERSITY AND INCLUSION AMONG ALL OF THE DISTRICTSES; NEVERMIND, RACE AND ETHNICITY. THAT'S THE DISCUSSION WE'D NEED TO HAVE, I'D LIKE TO HAVE IN TERMS OF THE CONTEXT OF IN CLUSIVITY INTO RESEARCH AND IN CLUSION AND DIVERSITY. SO I THINK THEY ARE ALL DISCUSSIONS THAT WE HAVE, THERE IS A LOT OF GREAT TECHNOLOGIES HERE AND I THINK THAT THE COMMUNITY RESPONSE FROM GENE THERAPY OR AAD ARE VERY SERIOUS CONSIDERATION. DUE TO LONG-TERM IMMUNE RE JECTION AND I THINK THAT AAD ARE TRYING TO USE THAT AS A SELL ING POINT TO NOT GO IN THE CHRISPER CAST. TO UPLOAD THESE SOURCES OF PRAY PLAY, TO SIT DOWN AND HAVE A COMMITTEE LOOK AT THESE THINGS POLITICALLY AND HOLISTICLY. I DON'T WANT TO GO ON AND ON BUT THOSE ARE MY COMMENTS. >> THANK YOU, DAN. SO IF I UNDERSTAND YOUR COMMENTS CORRECTLY YOU ARE A LITTLE CONCERNED ABOUT THE FACT THAT MY COMMENTS, NOT ONLY EMPHASIZE NIH RESEARCH BUT PERHAPS DIDN'T BALANCE THEM. AND ADMITTEDLY THEY ARE SOMEWHAT RANDOMLY SELECTED, IN A 20 MINUTE PRESENTATION WE CAN'T REALLY GIVE AN OVERVIEW OF EVERYTHING THAT'S HAPPENED SO ONE QUESTION I WOULD HAVE FOR YOU IS WHETHER YOU THINK THAT TIME WOULD BE BETTER SERVED BY, YOU KNOW, MAY BE TAKING A TECHNIQUE AND GIVING A BACK GROUND AND AND AND THEN DISCUSSING PLUSES AND MINUSES AND GOING FORWARD RATHER THAN GIVING THESE PRETTY SUPERFICIAL HIGHLIGHTS. THERE ARE OTHER WAYS FOR US TO USE OUR TIME TOGETHER. I DON'T THINK WE HAVE THE TIME TO DISCUSS IT NOW BUT IT IS SOMETHING THAT WE COULD TALK ABOUT TO SAY, YOU KNOW, IS IT, WHAT'S THE BEST USE OF THE TIME TOGETHER THAT KEEPS EVERYONE APPRISED OF THE CURRENT SCIENCE AS WELL AS HOW WE'RE USING THE TAXPAYERS DOLLARS TO ADVANCE THE RESEARCH. >> DAN: YES. >> DR. BIANCHI: DID I UNDERSTAND YOUR CONCERN CORRECTLY. >> DAN: A LITTLE. I THINK NOT QUITE IN TERMS OF WHAT I'M SAYING. WHAT I'M SAYING IS TO TAKE A CONCEPT LIKE GENE THERAPY DELIVERY, GENE THERAPY DELIVERY, WE CAN TALK ABOUT IT IN THE CON TEXT, I THINK IT HAS A LOT OF RELEVANCE. EQUALLY IMPACTFUL, EQUALLY VALUABLE BUT WE DON'T SEEM TO SAY HEY WE GOT THIS THING WITH ERIC OLSON AND WE'VE GOT LOT WORKING ON AND DUCHENNE BUT THESE ARE ALL SORT OF CONSIDERATIONS FOR THE EIGHT DISTRICTS. WITHIN YOUR TALK, NO, I DON'T THINK, YOUR TALK BECAUSE YOU WERE GIVING AN UPDATE ON WHAT'S HAPPENING IN DISTRICTS. MAYBE MAKE THAT A LITTLE MORE META DATA, IN TERMS OF NIH IS WORKING ON THESE KINDS OF TECH NOLOGIES THAT HAVE APPLICATION TO ALL OF THE DISTRICTSES OR NIH FUNDED RESEARCH THAT LED TO A PUBLICATION IN A CERTAIN AREA AND THIS TYPE OF TECHNOLOGY WOULD BE USEFUL IN-- 1, 2, 3, 4, 5, 6, 7, INSTEAD OF JUST STICK ING TO DUCHENNE. YOU'RE NOT REACHING OUT. YOU'RE NOT TRYING TO INCLUDE OTHERS IN THE DISCUSSION. >> DR. BIANCHI. THE PUBLICATIONS I DID HIGHLIGHT COVERED MORE THAN DUCHENNE. I DON'T MEAN TO CUT YOU OFF BUT WE UNFORTUNATELY WE DO NEED TO MOVE ON AND HOPEFULLY WE'LL HAVE A LITTLE BIT MORE TIME AT THE END. OKAY, THANK YOU. SO NOW, I HAVE A PLEASURE OF INTRODUCING THREE NEW MEMBERS AND WELCOMING THEM TO THE COMMITTEE. THEY ARE DEBRA MILLER, MICHAEL GOLDSTEIN, AND ALISHA KEEHN. THEY INTRODUCED THEMSELVES EARLIER AND WE'VE INVITED THEM EACH TO GIVE A BRIEF PRESENTATION TO TELL US ABOUT THEIR ORGANIZATIONS THAT THEY ARE REPRESENTING. FIRST UP IS DEBRA MILLER WHO IS THE FOUNDER AND CEO OF CURED UCHENNE. SO DEBRA WELCOME FROM THE WEST COAST. >> THANK YOU. AND FOR THOSE OF YOU WHO THINK IT IS SUNNY AND WARM HERE ALL OF THE TIME OUR HEATSER OUT IN THE OFFICE THIS MORNING AND IF I'M SHRIVERING THAT'S WHY. IT ACTUALLY DOES GET COLD HERE IN CALIFORNIA. SO FIRST OF ALL, I'M JUST REALLY HONORED AS I SAID EARLIER TO BE INCLUDED IN THIS COMMITTEE. I AM REALLY APPRECIATIVE OF THE WORK THAT'S GONE ON OVER MANY YEARS AND INVITED TO CONTRIBUTE AS MUCH AS I CAN TO THE CONTINUING WORK THAT YOU'RE ALL DOING. SO A LITTLE BIT ABOUT MYSELF AND THEN I'LL TALK A LITTLE BIT ABOUT CUREDUCHENNE BUT IF YOU COULD ADVANCE THE SLIDE, PLEASE. SO OUR SON HOPKIN WAS DIAGNOSED WITH MUSCULAR DYSTROPHY ABOUT 19 YEARS AGO AND WE HAD NEVER HEARD THE WORD "DUCHENNE" BEFORE AS MOST PARENTS HAVE WHEN THEIR CHILD IS DIAGNOSE WOULD A RARE DISEASE. HE WAS HAVING TROUBLE KEEPING UP WITH HIS PEERS AND IT WAS REALLY AN ODYSSEY FOR US TO GET THE DIAGNOSES. WE NOTICED WHEN HE WAS FOUR THINGS WEREN'T QUITE RIGHT AND WE SPENT TWO YEARS GOING TO OUR PEDIATRICIAN AND TRYING TO FIND OUT WHAT WAS WRONG AND WE WERE TURNED AWAY TO THE POINT WHERE THEY WOULD ROLL THEIR EYES WHEN WE WOULD WALK INTO THE CLINIC BECAUSE THEY FELT I WAS A HYSTER ICAL MOM WHO WAS PARANOID AND OVERREACTING TO EVERY LITTLE THING. SO WE KEPT SEARCHING AND TALKING TO A LOT OF DIFFERENT PROFESSIONALS ABOUT WHAT COULD BE GOING ON WITH HIM. WE WERE ACTUALLY HIGHLIGHTED BY A FRIEND THAT IT COULD BE MUSCULAR DYSTROPHY, SOMEBODY WHO HAD WORK WOULD A DUCHENNE PATIENT BEFORE. WE WERE REFERRED TO A TWO-HOUR PHYSICAL THERAPY AND EXAMINE AND EVEN MENTIONED MUSCULAR DYSTROPHY IN THAT EXAMPLE EXAM. WE CAME AWAY FROM THAT WITH AN EIGHT-PAGE REPORT THAT DID NOT MENTION ONCE DUCHENNE OR MUSCULAR DYSTROPHY AND SO OUR JOURNEY CONTINUED FOR QUITE A WHILE AFTER THAT. WE RAN INTO A PHYSICAL THERAPIST , JENNIFER WALLACE, WHO HAD JUST GRADUATED FROM PT SCHOOL AND TRADED HIM AND I THINK BECAUSE IT WAS RECENT ENOUGH IN HER MIND SHE WAS ABLE TO DIAGNOSE THIS AND EVEN THOUGH SHE DID NOT TELL US EXACTLY WHAT IT WAS SHE ENCOURAGED US TO GET TO A NEUROLOGIST AND THAT'S WHERE WE ENDED UP GOING TO OUR PEDIATRICIAN AND ENCOURAGED OUR PEDIATRICIAN WE NEEDED A SIMPLE CT TEST. SO OUR PEDIATRICIAN IS LIKE IF IT IS GOING TO MAKE YOU SLEEP BETTER AT NIGHT, THERE IS NO WAY THIS CHILD HAS MUSCULAR DYSTROPHY. LONG STORY SHORT HE WAS DIAGNOSE WOULD DUCHENNE MUSCULAR DYSTROPHY AND IT IS A JOURNEY THAT WE'RE HOPING THE PARENTS DON'T HAVE TO GO THROUGH IN THE FUTURE. IT IS BAD ENOUGH GETTING A DIAGNOSIS LIKE THIS, BUT FOR A DISEASE THAT IS AS SIMPLE AS DUCHENNE TO DIAGNOSE IS NO EX CUSE FOR IT TO BE DIAGNOSED EARLY. SLIDE, PLEASE. SO WITHIN A YEAR OF HOPKINS DIAGNOSIS WE CREATED CURED UCHENNE AND OUR MOTIVATION AND PRIORITY WAS JUST FINDING RESEARCH. WE WANTED A CURE FOR OUR SON AND FOR ALL OF THE OTHER KIDS THAT WERE DIAGNOSE WOULD THIS. AT 90 THERE WERE OBVIOUSLY NO APPROVED DRUGS, STEROIDS WERE BEING USED A LITTLE BIT, NOT AS MUCH AS THEY ARE ON. THERE WAS THIS DRUG CALLED DE PLASCORE THAT WE COULDN'T GET IN THE STATES, WE HAD TO ORDER IT FROM OVERSEAS, IT WASN'T COVERED BY INSURANCE AND THE DELIVERY WAS REALLY SPOTTY BUT WE WENT AHEAD AND HAD HOPKINS START ON IT RIGHT AWAY AND IT DID MAKE A DIFFERENCE. IT WAS VERY IMPACTFUL AND WE'RE VERY, VERY HAPPY THAT WE DID START THAT PAIR -- THAT THERAPY. THERE WAS VERY LITTLE RESEARCH GOING ON, EVERYTHING WAS EXTREMELY EARLY. EXON SKIPPING, GENE THERAPY, PRE MATURE READ THROUGH THERAPIES WERE BEING INVESTIGATED IN A PRE -CLINICAL STUDY BUT IT WAS JUST UNDER-FUNDED AND NO CLIN ICAL TRIALS GOING ON AT ALL. AND THERE WERE ALSO VERY FEW PHYSICAL THERAPIST THAT REALLY UNDERSTOOD DUCHENNE. AND WE UNDERSTAND MANY PHYSICAL THERAPISTS WITHOUT PROPER DUCHENNE TRAINING WERE DOING DAMAGE TO KIDS SO WE DECIDED TO START CUREDUCHENNE AND FUND RESEARCH AND HELP FAMILIES TRY TO GET THE BEST CARE POSSIBLE. SLIDE, PLEASE. SO WE FOCUS PRIMARILY ON RESEARCH IN THE BEGINNING AND JUST BY HAPPENSTANCE BOTH MYSELF AND MY HUSBAND HAD MEDICAL BACKGROUNDS. OBVIOUSLY THE CORNERSTONE IS KEY TO THE RESEARCH NIH IS DOING IN CONJUNCTION THAT IT WAS JUST OBVIOUSLY VERY, VERY IMPORTANT BUT WE FELT THERE WAS A GAP IN TERMS OF TRANSLATING THE SCIENCE AND GETTING IT OUT OF THE LABS AND INTO DRUG DEVELOPMENT IS AND SO WE STARTED WORKING IN THE VERY EARLY STAGE OF BIOTECH COMPANIES IN ENCOURAGING VENTURE S TO ACCELERATE THAT TRANSLATIONAL SCIENCE AND THEN UNDERSTANDING HOW SLOW DRUG DEVELOPMENT WAS WE STARTED C UREDUCHENNE PROGRAM FOR OUT REACH INTO THE COMMUNITY TO HELP EDUCATE FAMILIES TO BRING THEM TOGETHER TO PROVIDE NOT ONLY EDUCATIONAL SUPPORT BUT SOCIAL SUPPORT AND WE CREATED WORKSHOPS AND WERE UP TO PRE- COVID ABOUT 30 WORKSHOPS AROUND THE COUNTRY PER YEAR. OUT OF THAT CAME OUR PROFESSIONAL PT COURSE WHERE WE HAVE CERTIFIED PTs. SO A FAMILY LOOKING FOR A TRAIN ED PHYSICAL THERAPIST CAN GO TO OUR WEBSITE AND FIND SOMEBODY WHO UNDERSTANDS DUCHENNE MUSCULAR DYSTROPHY. WE HAVE AN ANNUAL EVENT CALLED FUTURES, A BIG CONFERENCE BEFORE COVID AND HOPEFULLY COMING UP THIS YEAR WE'LL BE ABLE TO RE VISIT THAT. AND LAST YEAR WE ALSO LAUNCHED A CENTRALIZED DATA HUB WHERE WE ACTUALLY HAVE ONE PATIENT IDENTIFY BIOSPECIMENS THROUGH THEIR SELF-REPORTED SURVEYS, MED ICAL RECORDS AND GENOMIC INFORMATION. IT IS A BIG UNDERTAKING WE'RE REALLY PROUD OF AND HOPING WE'RE ABLE TO GROW IN THE FUTURE. SLIDE, PLEASE. SO I KNOW IT WAS BROUGHT UP IN TERMS OF NEXT GENERATION RESEARCH AND WE DO RECOGNIZE THE LIMITATIONS THAT OCCUR IN GENE THERAPIES AND THAT'S WHY YOU KNOW AS WE CONTINUE TO SUPPORT GENE THERAPY AS WE DID WITH BAMBOO LED OFF BYIFIES PFIZER WE ACTUALLY FUNDED SIX IN TOTAL EXON SKIPPING COMPANIES MORE RECENTLY MOBILITY TO BE DELIVER ED BY ANTIBODIES THAT ARE NEXT GENERATION DELIVERY MECHANISMS FOR EXON SKIPIMENT WE ALSO CO-FOUNDED WITH DR. ERIC OLSON, COMPANIES EXON THERAPEUTICS TO INVESTIGATE CHRISPER CAST 9 FOR ADDITION AND THAT COMPANY WAS BOUGHT OUT A COUPLE YEARS AGO. # NEXT SLIDE, PLEASE. AGAIN, A CONVERSATION H WAS HERE EARLIER IN TERMS OF THE CHALLENGES WITH GENE THERAPY. OBVIOUSLY, WITH THE RE-DOSING THE ANTIBODIES AND JUST THE SHEER MAGNITUDE AND DISEASE LIKE DUCHENNE THAT QUANTITY YOU HAVE TO DELIVER IT WAS REALLY IMPORTANT FOR US TO LOOK AT ALTERNATIVE DELIVERY MECHANISMS. WE FUNDED THERAPEUTICS TO LOOK AT NOVEL VIRAL CAPSONS, CHAMELEON BIOSCIENCES HAS A PLAT FORM THAT CLOSES THE CAPSON. ALPLATFORM TO OVERCOME THE IMMUNE GENE SIZE AND OTHER LIM ITATIONS. CODE BIOIS ALSO A NON-VIRAL PLAT FORM TO OVERCOME LIMITATIONS WE'LL BE ANNOUNCING ANOTHER NON- VIRAL GENE THERAPY NEXT GEN ERATION INVESTMENT THIS WEEK SO WE'RE REALLY EXCITED. AS MUCH AS WE HOPE IN GENE THERAPY WE KNOW WE HAVE TO DO BETTER AND SO THIS IS A VERY IMPORTANT PART FOR OUR ORGANIZATION. WE WERE ALSO LOOKING BEYOND DUCHENNE IN HOW WE CAN HELP BONE HEALTH WITH MEZATECH, AND EDGE WISE TO HELP BETTER IDENTIFY THINGS LIKE MUSCULAR DYSTROPHY. NEXT SLIDE. I'M GOING TO GO QUICKLY OVER THESE. WE RAISED OVER $50 MILLION AND INVESTED IN 15 RESEARCH PROJECTS WE CONTRIBUTED MANY EARLY ON TO THE FIRST FDA APPROVED DRUG, AM TEPPERSON, WHICH IS NOW JAUNDICE, WE ALSO ARE SPONSORING A SUPPLEMENTAL NEWBORN SCREENING PROGRAM JUST SO FAMILIES LIKE OURS DON'T HAVE TO GO THROUGH THIS ODDACY. # # WE FOCUS HEAVILYSPOONISH SPEAKING COMMUNITY AND TRANSLATING OUR TOPICS INTO SPANISH. WE HAVE DEDICATED WEBINARS FOR THE SPANISH SPEAKING COMMUNITY AND ALL OF OUR RESOURCE LIBRARY IS TRANSLATED INTO SPANISH ALSO AND WE'RE GETTING WITH DIFFERENT ORGANIZATIONS AROUND THE GLOBE TO MAKE SURE THAT SPANISH SPEAK ING WORLD IS SERVED. NEXT SLIDE THAT IS A REAL QUICK SUMMATION OF DUCHENNE AND I APPRECIATE THE OPPORTUNITY TO TALK WITH YOU TODAY. >> THANK YOU SO MUCH, DEBRA. REALLY INCREDIBLE WORK AND PROGRESS SINCE YOUR SON RECEIVED HIS DIAGNOSIS. ARE THERE QUESTIONS FOR DEBRA? I CAN SEE EVERYBODY HERE. PLEASE RAISE YOUR HAND OR INDICATE IN THE Q&A BOX IF YOU HAVE A QUESTION. IF NOT WE'LL MOVE AHEAD JUST TO MAKE UP SOME TIME. SO THANK YOU, DEBRA. WE'RE THRILLED THAT YOU'RE JOIN ING THE COMMITTEE. SO NEXT I WOULD LIKE TO HAVE DR. MICHAEL - - I'M SORRY, I'D LIKE TO HAVE MICHAEL GOLDSTEIN GIVE HIS PRESENTATION. >> MICHAEL GOLDSTEIN: THANK YOU SO MUCH. I AM NOT A DOCTOR. NOW HAD A DOCTOR FOR A FEW MINUTES. I APPRECIATE IT. I CAN SPEAK TO THE SOCIAL SECURITY DISABILITY PROGRAM. AND I REALLY APPRECIATE BEING HERE WITH YOU ALL. I GAVE A PRESENTATION ABOUT FIVE OR SIX YEARS, HOPEFULLY SOME OF YOU WERE THERE. A MUCH MORE IN-DEPTH PRESENTATION. AT THE TIME MELISSA SPENCER SAT ON YOUR COMMITTEE. I AM HONORED TO BE JOINING THE COMMITTEE AND ALWAYS AN HONOR TO WORK WITH THIS ADVOCACY COMMUNITY AND LARGER. I'VE DONE IT IN THE PAST AND SWITCHED JOBS FOR A WHILE AND NOW I'M BACK DUE TO A MEDICAL POLICY AND IT IS REALLY AN HONOR TO WORK WITH YOU ALL. I'M EXCITED TO LEARN FROM YOU TODAY AND MOVING FORWARD. I'LL PROVIDE A BRIEF PRESENTATION ON THE OVERVIEW OF THE DISABILITY PROGRAM THAT WE RUN HERE AT THE SOCIAL SECURITY ADMINISTRATION AND LEAVE YOU HAVE A FEW MINUTES FOR QUESTIONS SO WE CAN GO AHEAD AND MOVE TO SLIDE TWO. WE HAVE DEFINITION OF DISABILITY AT A HIGH LEVEL DEFINED AS HAVING AN MDA OR MEDICALLY PHYSICALLY IMPAIRMENT THAT RESULTS IN ANY SUBSTANTIAL RESULT IN DEATH OR EXPECTED TO LAST FOR 12 MONTHS. THERE IS A CHILD'S PROGRAM UNDER TITLE 16 AND THAT DEFINITION IS A LITTLE DIFFERENT. I ACTUALLY DON'T HAVE A SLIDE BUT I'LL GO OVER THAT IN JUST A MINUTE AS WE RUN THROUGH THE SEQUENTIAL EVALUATION PROCESS AND HOW WE DETERMINE IF SOMEONE IS "DISABLED" BY SSA'S TERMS BECAUSE IT IS DIFFERENT WHETHER UNDER ADA OR WITH THE VA OR ANYTHING LIKE THAT. SO OKAY WE CAN GO AHEAD AND MOVE TO SLIDE THREE. AGAIN, WE HAVE THE SEQUENTIAL E VALUATION PROCESS, THIS IS FOR ADULTS. SUBSTANTIAL ACTIVITY, BARELY LOW THRESHOLD. ARE YOU WORKING AND MAKING ABOVE THIS AMOUNT BECAUSE REGARDLESS AT THAT POINT IF YOU ARE WORKING AND MAKING ABOVE THAT AMOUNT YOU WILL NOT BE FOUND DISABLED. AND STEP TWO WE SEE IF THERE IS A SEVERE IMPAIRMENT THAT IS A LOW THRESHOLD, IT IS RARE THAT ANYBODY WOULD EVER BE FOUND NOT TO HAVE A SEVERE IMPAIRMENT BECAUSE IT IS A PRETTY LOW THRESHOLD OF LIMITATIONS, WE'RE LOOKING AT A BAD STEP. AND WE MOVE ON TO STEP THREE. THIS IS WHERE WE START SEEING A LOT OF FOLKS WHO MIGHT BE IMPACT ED BY MUSCULAR DYSTROPHY AND WE SEE IF THAT INDIVIDUAL WOULD MEET MEDICALLY EQUAL LIST ING SO THESE ARE A LISTING OF IMPAIRMENTS. THEY COVER ALL DIFFERENT TYPES OF IMPAIRMENTS ACROSS DIFFERENT BODY SYMPTOMS FROM MUSCULAR, SKELETAL, TO CARDIOVASCULAR TO MENTAL AND BASED ON MEDICAL CRI TERIA ALONE YOU MEET THE MEASURE OF DISABILITY. 14 SYSTEMS APPLICABLE TO ADULTS AND 15 THAT ARE APPLICABLE TO CHILDREN. YOU CAN MOVE AHEAD AND GO TO THE NEXT SLIDE, PLEASE. SO IN THAT STAGE AFTER STEP THREE VERSUS OUR MEDICAL LISTING S AS WE CALL THEM, WE WOULD NEVER DENY YOU AT THAT POINT, WE WOULD THEN MOVE ON RIGHT. SO YOU'RE EITHER ALLOWED AT THAT POINT AT STEP THREE OR WE MOVE ON. SSA'S DISABILITY PROGRAM ALL COMES DOWN TO THE ABILITY TO WORK. SO IN STEP THREE YOUR MEDICAL CONDITION IS SUCH WE KNOW YOU CAN NOT WORK, RIGHT. SO AT STEP FOUR THOUGH IF YOU'RE NOT ALLOWED TO STEP THREE WE DETERMINE THE GREATEST FUNCTION ING YOU CAN DO, IS WHAT WE CALL THE RESIDUAL FUNCTIONING CAPACITY, AFTER ACCOUNTING FOR YOUR IMPAIRMENTSJECTOMY AT 90 WE SEE CAN YOU, ASSUMING YOU HAVE PAST RELEVANT WORK CAN YOU STILL PERFORM THAT PAST RELEVANT WORK BASED ON HOW YOU FUNCTION. AT THAT POINT WE WOULD MOVE ON, IF YOU CAN'T DO THAT, IF THERE IS WHAT WE CALL PRW, PAST RELEVANT WORK AND YOU CAN'T DO IT WE WOULD THEN MOVE ON AND SEE IF YOUR CONDITION AND YOUR FUNCTIONING ALLOWED YOU TO DO OTHER WORK THAT IS AVAILABLE IN THE NATIONAL ECONOMY. AT THAT POINT WE'RE STARTING TO CONSIDER AGE, EDUCATION AND PAST WORK EXPERIENCE. MOVING ON TO SLIDE FIVE. I'LL TELL YOU WHAT BEFORE I TOUCH ON ALLOWANCES I THINK THIS IS A GOODFIANT TOUCH ON THE CHILDHOOD PROGRAM. OBVIOUSLY, FOR CHILDREN, FOR INDIVIDUALS UNDER THE AGE OF 18 WE ARE THINKING ABOUT IT IN THE SUBSTANTIAL ACTIVITY CONTEXT OR THE WORLD OF WORK SO WE USE FUNCTIONAL EQUIVALENCE. INSTEAD OF STEPS FOUR AND FIVE YOU JUST SAW WE USE A FUNCTIONAL EQUIVALENCE THRESHOLD SO AT THAT POINT WHAT WE DO IS WE SEE IF THERE IS AN MDI THERE AND ASSESS WHETHER THERE ARE MARKED AND SEVERE FUNCTIONAL LIMITATIONS IN THEIR ABILITY TO PERFORM IN SIX DIFFERENT CATEGORIES. I'LL JUST ROLL THROUGH THOSE REAL QUICK. THEY ARE, WE'RE LOOKING FOR SEVERE, DIFFERENT COMBINATIONS OF THOSE CAN GET YOU TO A FIND ING OF DISABILITY. THEY ARE ACCRUING AND USING INFORMATION, ATTENDING AND COMPLETING TASKS, INTERACTING AND RELATING WITH OTHERS, MOVING ABOUT AND MANIPULATING OBJECTS, CARING FOR YOURSELF AND HEALTH AND PHYSICAL WELL-BEING. SO TO THE NEXT SLIDE. AGAIN CASH AND ALLOWANCES. THERE IS SOMETHING, AN EXPEDITED PROCESS AS YOU SEE FOR CERTAIN IMPAIRMENTS THAT ARE GOING THROUGH THE DISABILITY STANDARDS AND YOU'LL SEE ON THE NEXT SLIDE SPIN OF WHAT WE'RE DUSSING HERE TODAY DO FALL UNDER THOSE BUT THEY ARE FOR INDIVIDUALS THAT WE FIND ARE ALMOST GOING TO RESULT IN A FINDING OF DISABILITY. SO THEIR EXPIDATED STILL UNDER GOES THE SAME PROCESS AND A SITE THERE WHERE YOU CAN SHARE THE SLIDE, LOOK INTO THE COM PASSION ALLOWANCE PROGRAM, WE'RE ALWAYS SEEKING NEW INFORMATION AND ASSESSING IMPAIR MENTS WHETHER NEUROLOGICAL DISORDERS OR ANYTHING ELSE. WE HAVE A LOT OF SUBMISSIONS AND WE'VE GOT A REALLY GREAT PROCESS TO VET DIFFERENT CONDITIONS THAT MAY OR MAY NOT MEET OUR COWL STANDARDS. IF YOU'D LIKE TO GO TO OUR NEXT SLIDE YOU'LL SEE SIX CONGENITAL MUSCULAR DYSTROPHIES THAT ARE ON THE COWL LIST. I WON'T READ THEM FOR YOU, YOU CAN SEE THAT DUCHENNE IS ON THERE. IT SAYS MAJORITY OF THE COWL CMD CASES ARE ALLOWANCES AND I WOULD SAY IT IS A LARM MAJORITY OF THOSE THAT ARE ALLOWED. NEXT SLIDE. SO THERE IS A SPECIFIC LISTING FOR MUSCULAR DYSTROPHY AS WE DISCUSSED JUST A MOMENT AGO. YOU'LL SEE IN STEP THREE WE HAVE BOTH AN ADULT AND CHILDHOOD LIST ING UNDER THE NEUROLOGICAL DISORDERS/BODY SYSTEMS. SO WE'LL EVALUATE MUSCULAR DYSTROPHY ON PHYSICAL AND MENTAL FUNCTIONING. AND IN OUR PROGRAM THIS ISN'T SPECIFIC TO MUSCULAR DYSTROPHY BUT WE DO NOT DETERMINE DIS ABILITY BASED ON A DIAGNOSIS ALONE, WE'LL BE OPERATING AS WELL AS MEDICALLY ON IMPACT ON INDIVIDUALS. NEXT SLIDE. SO FOR YOUR REFERENCE HERE IS LISTING 11.13 SO TWO CRITERIAS IN A OR B SO IF YOU HAVE A DIS ORGANIZATION OF MOTOR FUNCTION TO EXTREMITIES RESULT ING TO EXTREME LIMITATIONS WHILE STANDING OR WALKING OR USE YOUR UPPER EXTREMITIES, THAT ALONE WILL RESULT IN A FINDING THAT YOU MEET THAT LISTING AND THUS ARE DISABLED UNDER OUR DEFINITION OF DISABILITY, OTHERWISE YOU'LL BE UNDER A LARGER LIMITATION TO FUNCTIONING AND THEN ALSO THIS IMPACT MENTAL FUNCTIONING AS YOU SEE HERE. SO THE DIFFERENCE IS THAT THERE IS NO B CRITERIA FOR CHILDRENS LISTINGS, OR I SHOULDN'T SAY THAT ACROSS THE BOARD BUT FOR THIS CHILDREN'S LISTING BUT CAPTURED IN THE FUNCTIONAL CRI TERIA ASSESSMENT THAT I PREVIOUSLY DESCRIBED. NEXT SLIDE, PLEASE. WHEN APPROPRIATE, WE'RE NOT BOX ED IN, I DON'T WANT TO GIVE THE IMPRESSION, WE WILL CONSIDER DIFFERENT LISTINGS. A LOT OF TIMES IN DISABILITY CLAIMS THIS IS TRUE NOT JUST FOR MUSCULAR DYSTROPHY BUT FOR ALL IMPAIRMENTS, WE HAVE MULTIPLE IM PAIRMENTS PRE PRESENTING OR IM PAIRMENTS MIGHT PRESENT THEM SELVES IN A MANNER THAT THEY ARE NOT PIGEONHOLD INTO EFFECT AG BODY SYSTEM AS WE LOOK AT IT RIGHT, NEUROLOGICAL BODY SYSTEM HERE. WE HAVE EXAMPLES OF OTHER WAYS THAT WE'RE GOING TO ASSESS THE EFFECTS OF MUSCULAR DYSTROPHY AND OTHER BODY SYSTEMS RIGHT. I KNOW THERE IS FOLKS WITH MUSCULAR DYSTROPHY WHO HAVE A RESPIRATORY IMPACT SO WE MIGHT NEED IN ADDITION TO THE EXAMPLES THAT HAPPEN TO BE ON THE SCREEN WE MIGHT BE LOOKING AT AIR RESPIRATORY LISTINGS, BUT POTENTIALLY MEETING OF A LISTING THERE. SO WE STAY FLEXIBLE IN ASSESSING DISABILITY. NEXT SLIDE. SO IT IS ALWAYS IMPORTANT, AND AGAIN, THIS IS TRUE AND NOT JUST FOR MUSCULAR DYSTROPHY CLAIMS, BUT FOR ALL CLAIMS THAT WE RECEIVE EVERYTHING THAT WE CAN RIGHT, MEDICAL RECORDS, VOCATION AL INFORMATION, WE WANT TO KNOW ACTIVITIES OF DAILY LIVING AND THIRD-PARTY INFORMATION, ONE THERE THAT YOU SEE ESPECIALLY FOR CHILDHOOD CLAIMS BECAUSE WE DO GET A NUMBER OF CHILDHOOD CLAIMS AROUND THE MUSCULAR DYSTROPHY BUT THE TEACHER QUESTIONNAIRES ARE REALLY VALUABLE FOR US WHEN WE'RE ASSESSING DISABILITY CLAIM S FOR CHILDREN TO HAVE SOMEONE WHO HAS SO MUCH EXPOSURE TO THEM TO INDIVIDUALS CLAIMING DISABILITY AND TO OFFER THAT IN SIGHT IS REALLY VALUABLE FOR US. WE WANT ALL OF THE EVIDENCE, THAT'S THE BOTTOM LINE, WE NEED ALL OF THE EVIDENCE AND WE MAKE OUR DECISIONS. NEXT SLIDE. THAT IS THE LAST SLIDE. I THINK I GOT THROUGH THAT IN ABOUT 10 MINUTES. I KNOW WE HAVE 15 MINUTES. THAT WAS THE GOAL TO ALLOW FIVE MINUTES FOR QUESTIONS. I'M HAPPY TO ANSWER ANYTHING THAT I CAN AND TAKE BACK OTHER QUESTIONS IF I CAN NOT ANSWER THEM. >> DR. BIANCHI: THANK YOU SO MUCH MICHAEL. REALLY TALKING ABOUT PATIENT ACCESS FOR CARE AND SERVICES WITHIN THE SOCIAL SECURITY ADMINISTRATION. IT IS A REALLY IMPORTANT TOPIC FOR THIS COMMITTEE. I SEE THAT DAN HAS A QUESTION. >> DAN: EXCELLENT TOPIC. FIRST QUESTION I HAVE IS DO YOU HAVE AN IDEA ON MUSCULAR DYSTROPHY TYPES FOR AGE,. >> WE GET I DON'T HAVE ANY SPECIFIC NUMBERS SO EVERYTHING I HAVE IS BALLPARK RIGHT NOW AND I DON'T HAVE IT BROKEN BYE-BYE DIFFERENT DISTRICTS WE HAVE A CODING SYSTEM AND WE HAVE A SPECIFIC MUSCULAR DYSTROPHY CODE WE GET GENERALLY A COUPLE THOUSAND CLAIMS PER YEAR FOR DIS ABILITY ACROSS ADULT AND CHILDHOOD FOR MUSCULAR DYSTROPHY MORE ABOUT USUALLY ABOUT THREE TIMES AS MANY ADULTS AS THERE ARE CHILDHOOD CLAIMS. THEY ARE, AGAIN THIS IS NOT OFFICIAL, YOU'D HAVE TO GO THROUGH OFFICIALS TO GET DATA, HIGHER RATES FOR THE GENERAL POP POPULATION ACROSS ALL MUSCULAR DYSTROPHIES. AND THE THRESHOLD FOR THOSE COWL CONDITIONS TYPICALLY, AGAIN, THERE IS A WHOLE FORMULA THAT GOES INTO IT BUT THOSE ARE BEING ALLOWED THEY WOULDN'T MAKE THE LIST IF THEY WEREN'T ABOVE ALLOW ANCE RATES. >> DAN: THOSE NOT ACCEPTED, THE SECOND QUESTION TO YOU, MICHAEL, IS 20 YEARS BEEN WORKING FOR 20 YEARS, EVEN NOW THEY COULD BE CONSIDERED AND NOTHING HAS CHANGED BECAUSE IN FACT THE DECISION IS MADE. SO I'M JUST WONDERING WHETHER OR NOT YOU HAVE DATA THAT SHOWS LIKE HOW MANY APPLICANTS AND APPLICATIONS ARE REJECTED. I COULD IMAGINE IT IS A LOT HARD ER TO GET DISABILITY IF YOU HAVE A DISABILITY FOR CANCER BECAUSE IT WILL CONTINUE. I'D LIKE AN IDEA OF THE RE JECTION. >> MICHAEL: THAT'S A FANTASTIC QUESTION AND I DO NOT HAVE AN IDEA, THAT'S SOMETHING I CAN TAKE BACK. THAT'S ACTUALLY A WHOLE DIFFERENT OFFICE WHO WOULD RUN THAT DATA BUT IT BRINGS UP A RALLY GOOD POINT IN THAT INDIVIDUALS MIGHT WORK, I KNOW SOMEONE WHO USED TO WORK, NOT DIRECTLY WITH ME, BUT I KNEW HER WHO WORKED FOR YEARS WITH MUSCULAR DYSTROPHY AND COULD HAVE MET ONE OF THE LISTINGS BUT JUST AN INCREDIBLE PERSON WORK ING AND YOU HAVE THAT IN STANCE AND THERE ARE PROGRAMS RELATED TO THAT TO TRY TO KEEP PEOPLE WHO ARE ABLE TO STILL WORK AND YET RIGHT AT THE TIME THEY CAN NO LONGER DO IT FOR WHATEVER REASON THAT THEY WOULD THEN GET DISABILITY BENEFITS THAT THEY'VE EARNED AND DESERVED BUT IT IS AN ISSUE AND AN ISSUE PARTICULARLY WITH SOME OF THE NEUROLOGICAL IMPAIRMENTS AND CERTAINLY MUSCULAR DYSTROPHY AT THE FOREFRONT BUT OTHERS IT IS SLOWLY EVOLVING RIGHT, AND SOME OF THEM MIGHT EVEN BE A SYMPTOMATIC, YOU MIGHT HAVE A BIOMARKER SHOWING YOU ARE GOING TO DEVELOP AND IT IS PERSONALLY VERY HEART WRENCHING TO SEE THAT AND I CAN IMAGINE ITS ANXIETY AND ALL KINDS OF OTHER ISSUES. WE TRY TO REMAIN FLEXIBLE TO ACCOUNT FOR EVERYTHING. WE ARE BOUND BY STATUTE TO A CERTAIN EXTENT TO OUR RULES AND TO ANOTHER EXTENT WE DO NEED TO HAVE AN EFFECT ON THE PERSON TO KNOW THAT SOMETHING WILL EVENTUALLY WILL HAPPEN ISN'T GOING TO GET YOU TO A FINDING OF DISABILITY UNTIL SAID FUNCTION ING DIMINISHES. SO IT IS A VERY GOOD QUESTION AND IT IS A DIFFERENT SITUATION. SOMETIMES YOU'LL SEE A LATER ON- SET DECISION, THAT IT IS NOT UNTIL A TIME THAT PERSON FALLS INTO THE DEFINITION OF DIS ABILITY WOULD THOSE BENEFITS BE AWARDED, RIGHT, BUT IF SOMEBODY WERE TO APPLY KNOWING THEY ARE EVENTUALLY GOING TO DEVELOP SOME TYPE OF LIMITATION RELATED TO MUSCULAR DYSTROPHY, YET THEY ARE NOT PRESENTING WITH IT THAT THEY ARE PROBABLY GOING TO BE DENIED UNLESS THERE IS SOMETHING ELSE THERE TO SHOW DIMINISHED FUNCTIONING. >> DR. BIANCHI: WE ALSO HAVE A QUESTION FROM GUSTAVO. >> THANK YOU. HI MIKE. WOULD YOU SHOW US AGAIN THE LEAST YOU HAVE ON MUSCULAR DYSTROPHY. HOW DO YOU BASE YOUR CLASSIFICATION BECAUSE IT KIND OF DIFFERENT. I WORK FOR CURE CMD AND WE DON'T HAVE DUCHENNE AS ONE OF OUR DISEASES AND THERE ARE THREE OR FOUR AT LEAST I DON'T KNOW THERE >> IF YOU GO BACK TO SLIDE SIX, I'M ASKING, THEY ARE RUNNING THE SLIDES, I'M HAVING SOME TECHNICAL DIFFICULTY IN ZOOM BUT HOPEFULLY SOMEBODY FROM THE COMMITTEE CAN BRING UP SLIDE SIX , THAT'S THE LIST, THOSE ARE THE SIX CONGENITAL MUSCULAR DYSTROPHIES ON THE COWL LIST RIGHT. SO THERE IS A FORMULA AND IF THERE ARE OTHER, SO THAT'S SLIDE SIX, IF YOU GO TO SLIDE FIVE AND HOPEFULLY EVERYBODY CAN SHARE THERE IS INFORMATION, I'M GOING TO GO BACK FOR A SECOND SLIDE FIVE, SO SEE THAT LIST, I WANT TO SUBMIT ADDITIONAL, WE'RE ALWAYS TAKING THEM AND WE GET A COUPLE A DAY ACROSS THE REALM OF ALL POTENTIAL DISORDERS, OTHER MUSCULAR DYSTROPHIES, RIGHT. SO YOU CAN ALWAYS SUBMIT MORE THERE ON FIVE, BUT THE LIST ON SIX ARE THE ONES AGAIN THROWS TYPICALLY OVER A 90% ALLOWANCE THRESHOLD. SO FIND MORE INFORMATION ON THE COWLQUAL WE HAVE A TEAM OF PEOPLE DEDICATED TO THE COWL. I THINK TWO OF THOSE, I CAN'T REMEMBER WHICH TWO, I THINK TWO OF THESE WERE RECENTLY ADDED TO THE LIST IN THE PAST YEAR OR TWO BUT WE'LL ALWAYS GO AHEAD AND TAKE A LOOK AND, YOU KNOW, BETWEEN DATA AND WE'LL ALSO WE HAVE PERSONALLY I DON'T, I AM NOT A DOCTOR, AS I STATED IN THE BEGINNING, I AM NO EXPERT IN MUSCULAR DYSTROPHY BUT WE DO HAVE IN-HOUSE DOCTORS, WE HAVE CONSULTANTS. WE'RE ALWAYS TALKING WITH BOTH OUR IN-HOUSE DOCTORS AND FOLKS IN DIFFERENT. I'M HERE TO LEARN FROM YOU ALL AND TAKE INFORMATION. WE WANT YOU TO BE ACTIVE IN THIS PROCESS, RIGHT. IN A SENSE REACT AGENCY BECAUSE WE'RE GOING THROUGH PEOPLE'S MED ICAL RECORDS AND THE RESEARCH WE'RE DISCUSSING TODAY WILL LEAD TO CHANGES IN CLINICAL OUTCOMES, CLINICAL FINDINGS AND MEDICAL RECORDS AND HELP US IN DETERMINING DISABILITY SO I'M MOSTLY HERE TO LEARN BUT WE'RE ALWAYS WILLING AND WE CAN GET MORE SPECIFIC. THIS IS A VERY HIGH-LEVEL PRESENTATION. WE CAN DIG INTO EACH OF THESE SLIDES AND SPEND A DAY TALKING ABOUT THEM. BUT HOPEFULLY IT IS USEFUL THOUGH. >> VERY USEFUL. THANK YOU. I NEED TO WE'RE LIKE WAY, WAY, WAY BEHIND. SO I REGRET I JUST NEED TO BE A LITTLE TOUGHER ON TIME. >> I'M SORRY, I CAN TALK. >> NO, THAT'S OKAY. AND I ALSO NEGLECTED TO THANK OUR PREVIOUS MEMBER FROM SOCIAL SECURITY ADMINISTRATION SHERYL WILLIAMS WHO PARTICIPATED IN THE COMMITTEE AND THE EXPERTISE SHE BROUGHT TO THESE SESSIONS BUT WE ARE VERY GRATEFUL TO MIKEFUL JOINING OUR COMMITTEE. AND NOW WE'RE GOING TO INTRODUCE OUR NEXT MEMBER ALISHA KEEHN. OUR PREVIOUS MEMBER FROM THE GENETIC SERVICES BRANCH, HEALTH RESOURCES AND SERVICES ADMINISTRATION CATHERINE RILEY MOVED TO THE CDC. WE WANT TO THANK YOU FOR YOUR VALUABLE EXPERTISE ON SCREENING THAT SHE BROUGHT TO OUR DISCUSSIONS. NOW WE'D LIKE TO WELCOME ALISHA KEEHN TO OUR COMMITTEE AND SHE CAN THE GENETIC SERVICES BRANCH, HEALTH RESOURCES AND SERVICES ADMINISTRATION. ARE YOU READY TO PRESENT. >> THANK YOU SO MUCH. I'M ACTUALLY PROVIDING COMMENT TODAY. I WILL DO MY BEST. I AM REALLY PLEASED TO BE HERE AND TO BE AMONG SUCH A PROGRESS ED GROUP OF COLLEAGUES. THANK YOU SO MUCH FOR ALLOWING ME TO JOIN YOU. WHAT I THOUGHT I WOULD DO IS JUMP RIGHT IN AND GIVE YOU A QUICK BACKGROUND. OUR FOCUS IS ON PROVIDING EQUIT ABLE HEALTH CARE TO PEOPLE GEOGRAPHICALLY ISOLATED AND MED ICALLY VULNERABLE. WITHIN OUR BRANCH, THE GENETIC SERVICES BRANCH WEAVERSEE A PORTFOLIO. [LOW AUDIO] BLOOD DISORDER TO SICKLE CELL DISEASE. ADDITIONALLY WE COULD PLAY A CRITICAL ROLE IN GENETICS PROGRAM TO INCLUDE -- -- PROGRAMS FUNDED AT BOTH THE NATIONAL AND STATE LEVEL TO IMPROVE DATA SYSTEMS. [MUFFLED AUDIO]. >> WITH OTHER SCREENING CONDITIONS. LOTS OF PROGRAMS TO IMPROVE. AS I MENTIONED A MINUTE AGO WE ALSO SUPPORT THE MATERNAL CHILD OF ENVIRONMENTAL HEALTH NETWORK AS WELL AS DISCRETIONARY ADVISORY COMMITTEE FOR CHILDREN. GIVEN THIS MEETING'S FOLKIOUS THOUGHT I WOULD SPEND A COUPLE MOMENTS TALKING ABOUT THE ADVISORY COMMITTEE BECAUSE OF THE IMPORTANCE ON SCREENING ISSUES. SO THE ADVISORY COMMITTEE ADVISE S THE SECRETARY OF HEALTH AND HUMAN SERVICES. THE MISSION OF THE COMMITTEE IS TO -- HAVE OR AT RISK OF MEDICAL DISORDERS AND THE PURPOSE IS REALLY TO ESTABLISH BEST PRACTICES FOR NEWBORN SCREENINGS AND RECOMMENDING THE ONSET OF DISORDERS FOR SCREENING IN THE UNITED STATES. CONDITIONS ARE LISTED ON THE LEFT ARE PART OF THE HEALTH GUIDELINES SUPPORTED BY VERSA IN CHILDREN. NOT MANDATORY HOWEVER IT IS WIDE LY ACCEPTED IN THE UNITED STATES. THE COMMITTEE MAKES RECOMMENDATIONS FOR THE UNIFORM SCREENING PANEL FROM THE HEALTH AND HUMEP SERVICE SERVICES [ MUFFLED AND LOW AUDIO]. NOMINATED CONDITIONS AND WHERE THEY ARE IN THE PROCESS. IN MAY OAF 2021 VOTEED TO MOVE. THE COMMITTEE IS SCHEDULED TO VOTE AT ITS FEBRUARY 10ING IT-11 , 2022 SADVERSY COMMITTEE. THE NEXT IS NOMINATION RECEIVED IN 2021. IN AUGUST OF 2021 THE COMMITTEE VOTED TO IMPROVE CONDITIONS AND THAT VOTE IS SCHEDULED WITH THE AVAILABLE EVIDENCE. WE HAVE MANY CONDITIONS THAT WE UNDERSTAND TO BE EITHER ALMOST AT OUR DEAR IN OUR MAILBOX. WE RECEIVED NOMINATION IN JULY OF 2021 HOWEVER IN NOVEMBER OF 2021 THE NOMINATION -- WHICH IS AN ADVISORY COMMITTEE, ASKED NOM INATORS TO SUBMIT ADDITIONAL INFORMATION AND RETURN TO THE COMMITTEE BY JANUARY 23, 2022. ADDITIONALLY -- RECEIVED IN OCTOBER OF 2021 AND IS CURRENTLY UNDER ADMINISTRATIVE REVIEW. WE HAVE A DESIGNATED FEDERAL OFFICIAL THAT PROVIDES ASSIST ANCE TO NOMINATORS AND POTENTIAL NOMINATORS AND AS A RESULT -- THROUGHOUT THE PROCESS WE THINK THERE IS A STRONG LIKELIHOOD THAT WE'LL RECEIVE ANOTHER CONDITION FOR NOMINATION S SOMETIME IN EARLY 2022. A COUPLE OTHER QUICK UPDATES THAT I THINK COULD ALSO BE OF INTEREST TO THIS IS THAT THE NOM INATIONS BOARD FOR A COMMISSION TO BE CONSIDERED BY THE ADVISORY COMMITTEE IS RECENT LY UPDATED AND THAT UPDATE WAS APPROVED BY THE COMMITTEE AND THAT NEW FORM WILL BE AVAILABLE ON THE COMMITTEE WEBSITE EARLY JANUARY 2022. WE ALSO HAVE A WHOLE LIST OF CONSUMER MATERIALS TO BE AVAILABLE AS WELL AND AVAILABLE ON THE WEBSITE. WITH THAT I WOULD LIKE TO THANK YOU FOR WELCOMING ME TO THE COMMITTEE AND ALLOWING ME TO SHARE ABOUT THE SISTERS COMMITTEE AND THE OTHERS AT OUR BRANCH. >> DR. BIANCHI: THANK YOU SO MUCH, ALISHA, ARE THERE QUESTIONS FOR HER? DAN, GO AHEAD AND GIVE YOUR QUESTION. >> DAN: MANY OF THE MUSCULAR DYSTROPHIES ARE GENETIC AND A LOT OF THE MDA CONDITIONS ARE METABOLIC SO I'M JUST CURIOUS HOW FAR, IN FACT, 10 YEARS AGO I SAT ON A PANEL FOR MUSCULAR DYSTROPHY. HOW FAR ARE WE IN THE GENETIC SEQUENCING BASED ON GENOMES AND SEQUENCING IN TERMS OF THESE GENETIC DISEASES. I'M CURIOUS TO KNOW HOW FAR ON THE HORIZON THAT IS. #. >> THANK YOU FOR THAT QUESTION AND I WILL ALSO GIVE IT TO MY COLLEAGUES AT NIH BECAUSE I THINK THEY ARE MORE CLOSELY TO THIS THAN WE ARE HERE AT VERSA. I THINK THAT TECHNOLOGY AND THAT ADVANCEMENT MOVING EVER CLOSER TO OUR DOORSTEP AND IN TERMS OF WHERE WE THINK THINGS ARE MOVING ON THE VERSA SIDE OF THIS COMMITTEE I THINK WE'RE A LITTLE , WE HAVE SOME TIME STILL AND I THINK THAT YOU HAVE TO THINK ABOUT THE FACT THAT NEWBORN SCREENING HAPPENS THAT STATE LEVEL AND THOSE TECH NOLOGIES TAKE TIME TO ROLL OUT. SO I DON'T HAVE A 12-MONTH WINDOW OR A 24-MONTH WINDOW. >> DAN: WITH THE WHOLE CORONAVIRUS AND CORONAVIRUS LEVEL IT SEEMS IT'S GOTTEN HERE QUICKER AND QUICKENING THINGS UP TO THE STATEALISM. STATE LEVEL. IT SEEMS LIKE IT IS EVOLVING A LOT QUICKER THAN ONE COULD IMAGINE. THANK YOU. >> DR. BIANCHI: EVERYONE IF YOU HAVE ACCESS TO THE CHAT BOX MELISSA PERECI PUT IN A NOTE THAT THE PROGRAM ADDRESSES SOME OF THE QUESTIONS ABOUT THE GENOME SEQUENCING AND NEWBORN SCREENING AT THE DECEMBER 20 WORKSHOP A YEAR AGO. SO SHE HAS PROVIDED THE LINK TO A SUMMARY ON INSIGHT. SO WITH THAT LET'S MOVE AHEAD BECAUSE WE HAVE ANOTHER PRESENTATION TO GET TO BEFORE WE TAKE A SHORT BREAK. AND THIS WAS SOMETHING THAT WE REALLY WANTED TO FOLLOW UP ON. YOU'LL RECALL FROM A PREVIOUS MEETING IN JUNE ON RESPIRATORY AND SLEEP COMPLICATIONS IN THE MUSCULAR DYSTROPHIES. DONOVAN DECKER DESCRIBED HIS EXPERIENCES SEEKING MEDICARE COVERAGE FOR THE EQUIPMENT THAT ASSISTS HIS BREATHING AND HE REPORTED THAT WHILE MEDICARE EX PECTS TO SEE SLEEP APNEA DYSTROPHY PATIENTS CAN EXPERIENCE HYPOVENTILATION WITHOUT SLEEP APNEA, SO DYSTROPHY PATIENTS WERE HAVING DIFFICULTY GETTING MEDICARE COVERAGE FOR BIPAP EQUIPMENT, FOR EXAMPLE. SO EUGENE FREUND IS JOINING US FOR THE CENTERS FOR MEDICARE AND MEDICAID SERVICE AND HE VERY KINDLY VOLUNTEERED TO DIG DEEPER INTO THIS SITUATION SO WE COULD GET SOME FOLLOW-UP. SO EUGENE I'M GOING TO HAND IT OVER TO YOU AND THANK YOU FOR LETTING US KNOW WHAT'S HAPPENING IN THIS VERY IMPORTANT AREA. >> THANK YOU VERY MUCH. IT IS GOOD TO BE HERE AND TALK ING TO YOU. I DON'T KNOW IF ANYBODY CAUGHT LAST WEEK WITH WHEN DR. COLLINS WAS EXPERIENCING THE MAIN REASON WAS CONSIDERABLE INTELLECT ON HUMAN GENOME WAS BECAUSE HE FOUND MEDICARE POLICY TOO COMPLICATED. NO, I MADE THAT UP. [LAUGHS] BUT ANYWAY LET ME, I THINK THE THING TO UNDERSTAND WITH ANY OF THE MEDICARE COVERAGE IS THAT WE HAVE THIS SORT OF DISRUPTED NET WORK OF MEDICARE CONTRACTORS, MEDICARE ADMINISTRATIVE CONTRACTORS IS THEIR TITLE AND THEY ARE THE ONES THAT DO THE PROCESS OF REQUESTING THE CLAIMS AND WE REFER, WHEN I TALK ABOUT THEM I REFER TO THEM AS BEING SORT OF THE LOCAL ADJUD CATERS OF MEDICARE POLICY AS IT APPLIES TO ANY PARTICULAR CIRCUMSTANCE AND I THINK THE THING TO UNDERSTAND ABOUT THE MAX IS THAT YOU ALWAYS CAN KIND OF APPEAL AND GO A LITTLE BIT DEEPER AND THE THING THAT STRUCK ME ABOUT THE IDEA THAT YOU KNOW MEDICARE WAS LOOKING FOR BASICALLY A DIAGNOSIS OF SLEEP APNEA IN ORDER TO PROVIDE A RESPIRATORY SUPPORT PRODUCT MEANT TO ME THAT WHAT WAS PROBABLY HAPPENING WAS SOMEONE WAS KIND OF LOOKING AT THE MOST COMMON REASON THE THAT SUPPORT DEVICE AND NOT NECESSARILY TAKING THE ACTUAL DIAGNOSIS INTO CONSIDERATION. WHEN THAT HAPPENS THAT'S PROBABLY THE TIME TO SAY, OKAY I'M GOING TO CALL THEM BACK UP, I MIGHT EVEN TRY TO GET A CONVERSATION A PRACTITIONER WITH THEIR MEDICAL DIRECTOR AND SORT OF SORT THOSE THINGS OUT, BECAUSE IT DIDN'T QUITE SEEM RIGHT. IT SOUNDED LIKE SOMEBODY WAS TRY ING TO, BASICALLY PIGEON HOLE , A DIAGNOSIS. LET'S SEE. IF I SHARE MY SCREEN HERE. ANYTIME YOU GO TO A CMS SITE THAT USES CBTs YOU HAVE TO ACCESS THE AMALIANCEANCING A GREEMENT THE CPT CODING AND HERE IS A SITE FOR THE MEDICARE COVERAGE DATABASE AND THE RELEVANT ONE, I'LL SEND IT TO YOU IN THE CHAT BOX WHEN WE'RE BACK, IT IS RIGHT THERE. I FOUND IT. AND THAT'S THE LINK I HAVE. THIS IS ACTUALLY MEDICARE COVERAGE FOR ACTUAL RESPIRATORY SYSTEM VICES AND WHEN YOU GET DOWN TO THAT THEY ACTUALLY HAVE A NUMBER OF DIFFERENT CRITERIAS. SO IT IS NOT JUST ON SLEEP APNEA AND YOU CAN SO THAT'S, AND THIS HAS BEEN REVISED A LITTLE BIT FAIRLY RECENTLY SO ACTUAL POLICY THAT WAS BEING COVERED IN JUNE MAY HAVE CHANGED A LITTLE BIT BUT THERE ARE A NUMBER OF DIFFERENT CRITERIA IN THE MED ICAL RECORD THAT CAN BE USED AND IT REALLY SHOULDN'T BE THE CASE THAT WE SHOULD HAVE TO PIGEON HOLE PEOPLE WITH MUSCULAR DYSTROPHIES OR ANY OTHER NEURO MUSCULAR CONDITION THAT LEADS TO, YOU KNOW, RESPIRATORY PROBLEMS ESPECIALLY AND USUALLY THE COURSE IS I'M ON THE WAY TO IS WITH SLEEPING. SHOULD BE PICKEN HOLED THERE. SO IT SHOULD BE PRETTY WELL DOABLE AND I GOT A CHANCE TO INTERACT WITH SOME OF MY COLLEAGUES IN THE COVERAGE GROUP AND THAT ANALYSIS I THINK IS I'M CONFIDENT IS CORRECT AND IF WE HAVE SPECIFIC CIRCUMSTANCES WE'RE TRYING TO WORK WITH THEM BACK AND REALLY PUSH THE WORK, THE ACTUAL DIAGNOSIS, NOT A DIAGNOSIS OF SLEEP APNEA, THAT YOU KNOW, WE COULD TAKE A LOOK AT THAT AND TRY TO WORK THROUGH THAT A LITTLE BIT MORE THOROUGHLY, BUT, YOU KNOW, ESPECIALLY THERE ARE WAYS TO GET THAT COVERED AND IT DOESN'T REQUIRE MEETING THE CRITERIA SLEEP APNEA. SO I WORRY THOUGH THAT WHAT COULD SOMETIMES HAPPEN IS BECAUSE SLEEP APNEA IS THE MOST COMMON REASON THOSE DEVICES ARE PRESCRIBED THAT DEPENDING ON THE DURABLE MEDICAL EQUIPMENT, SUPPLIER AND THE MAC, THAT THE FIRST CUT IS TO LOOK AT THE SLEEP APNEA DIAGNOSIS AND THE MAIN THING IS NOT TO TRY TO KEEP PURSUING THAT IF THAT'S NOT THE DIAGNOSIS. THAT WOULD BE SIMPLIFIED WAY OF DEALING WITH THAT POLICY AND THAT'S KIND OF ALL I HAVE BUT I'M HAPPY TO TRY TO ANSWER QUESTIONS AND WE CAN PURSUE THIS FURTHER IF IT'S WARRANTED. >> DR. BIANCHI: THANK YOU FOR DIGGING INTO THIS. SHOULD THEY CONTACT THEIR LOCAL OFFICE OR HOW DO YOU GET FROM HAVING AN INDIVIDUAL PROBLEM TO ASKING SOMEONE TO REALLY LOOK BROADER THAN A NARROW DEFINITION OF SLEEP APNEA? >> IT DEPENDS ON WHERE THE PROBLEM IS. AND THIS IS SOMETHING THAT REALLY YOU PROBABLY WANT YOUR DOCTOR OR THEIR OFFICE TO DO FOR YOU AND NOT TRY TO DO IT BY YOUR SELF BUT IF THE DURABLE MED ICAL EQUIPMENT COMPANY IS THE ONE THAT'S ASKING YOU OR YOUR DOCTOR TO FILL OUT A FORM THAT DIAGNOSES YOU WITH SLEEP APNEA THAT'S THE TIME TO SAY WAIT A MINUTE THIS ISN'T CORRECT AND IF THEY PUSH BACK ON IT THEN IT IS TIME TO HAVE A CONVERSATION WITH THE MEDICARE ADMINISTRATIVE CONTRACTOR AND # # YOU KNOW EVERY PRACTITIONERS OFFICE AND THOSE DME SUPPLIER BECAUSE THERE IS A SEPARATE CONTRACTOR FOR THAT KNOW WHO THEIR MACERIZE AND THAT'S SOMETHING THAT REALLY DOES REQUIRE SOME DISCUSSION. SO IT SORT OF DEPENDS ON WHERE THE PROBLEM IS AND WHERE THE FEEDBACK IS COMING FROM. IF I AM A DOCTOR SEEING A PATIENT WHO HAS A MUSCULAR DYSTROPHY, NEEDS THAT BIPAP SUPPORT AT NIGHT AND I'VE WRITTEN THAT ORDER AND THE DUR ABLE MEDICAL EQUIPMENT COMPANY IS COMING BACK AND SAY ING YOU KNOW, I NEED A SLEEP STUDY THAT DIAGNOSIS SLEEP APNEA THE ANSWER IS NO, THIS NOT SLEEP APNEA, THERE STILL MIGHT BE A NEED FOR SLEEP STUDY BECAUSE THAT'S KIND OF CONSISTENT WITH THE LITERATURE BUT IT SHOULDN'T HAVE TO SHOW A TOTAL OF SLEEP APNEA PICTURE. THAT WOULD BE THE FIRST THING TO DO AND THEN GOING FROM THERE IT COULD ACTUALLY INVOLVE SUBMIT AG CLAIM AND GETTING IT DENIED AND SUBMITTING AN APPEAL TO THE MAC, SO THAT COULD BE THE ISSUE. NOW DONOVAN YOU TYPED IN A QUESTION IN THE CHAT. IT SAYS, -- OKAY, YEAH. AND I THINK THAT ACTUALLY MIGHT BE THE CASE BASED ON THE CRI TERIA. DONOVAN IN THE CHAT YOU SAID THAT ALWAYS TO GET A BIPAP YOU HAD TO HAVE A SLEEP STUDY AND WE COULD DISCUSS TO WANT PHONE AND DO IT BUT THERE ARE THERE IS KIND OF A SET OF CRITERIA AND YOU KNOW THAT IS SOMETHING THAT SOMETIMES, YOU HAVE TO STEP THROUGH CRITERIA AND KNOW A LITTLE BIT MORE THAN I KNOW ABOUT YOUR SPECIFIC CASE TO SAY THAT THAT IS ABSOLUTELY WHAT IS REQUIRED BASED ON THESE DIAGNOSES AND IT SHOULDN'T HAVE TO BE A SEPARATE SLEEP STUDY IF YOU HAVEN'T ALREADY HAD IT. AS I REVIEWED THE LITERATURE ON THE CONDITION IT DID WARRANT SLEEP STUDIES TO DIAGNOSE THE NEED FOR NOCTURNAL HYPOVENT ILATION SUPPORT BUT IT DIDN'T NECESSARILY REQUIRE A SLEEP APNEA DIAGNOSIS. I'LL GIVE YOU A CALL. I HAVE YOUR NUMBER AND I CAN DO THAT. I JUST GOT YOUR NUMBER. >> DR. BIANCHI: THANK YOU. ONCE WE GET A SOLUTION WE WOULD PROBABLY LIKE TO SHARE IT # WITH MORE PEOPLE, BUT I GUESS WHAT I'M TAKING FROM YOU IS IT IS NOT AN ABSOLUTE NO AND THERE CAN BE BROAD INTERPRETATIONS AND YOU KNOW PEOPLE AT CMS NEED TO LOOK AT THE BROADER PICTURE THAT THE UNDERLYING DIAGNOSIS CAN BE ASSOCIATED WITH HYPO VENTILATION AND THERE IS A REASON WHY SYSTEM DEVICES ARE NEEDED. OH, YOU'RE MUTED NOW. >> EUGENEISM. I THINK THE POLICY IS CONSISTENT WITH THAT. I DIDN'T QUITE UNDERSTAND THAT PARTICULAR CONCERN IN THIS CASE WAS THE ACTUAL NEED FOR A SLEEP STUD TEE DIAGNOSE THAT. SO IF THE SLEEP STUDY IS TO DIAGNOSE SLEEP APNEA THAT DOESN'T QUITE MAKE SENSE, BUT IT MAY BE NECESSARY TO DIAGNOSE THE NOCTURNAL HIPOPNIA THAT IS HAPPENING, BUT WE CAN TALK ON THE PHONE AND WORK THROUGH THAT A LITTLE BIT MORE THOROUGHLY. >> THANK YOU SO MUCH FOR GETTING BACK TO US ON THIS. GLEN, WE'RE RUNNING ABOUT SIX MINUTES BEHIND. SHOULD WE GIVE THE FULL BREAK AND JUST ASSUME THAT EVERYTHING WILL BE SHIFTED BY SIX MINUTES OR WHAT SHOULD WE DO? >> WE HAD A 15 BREAK SCHEDULED, MAY BE WE'LL SHORTEN THAT A LITTLE BIT AND COME BACK AT 2:45 >> OKAY. NOW A NINE MINUTE BREAK. SO PLEASE COME BACK PROMPTLY. THANK YOU. I WANT TO GIVE A BRIEF INTRO DUCTION FOR THE MAIN TOPIC FOR OUR MEETING TODAY WHICH IS STRATEGIES TO INCREASE INCLUSION OF RACIAL AND ETHNIC MINORITIES IN RESEARCH STUDIES. SO AS DR. BIANCHI MENTIONED THIS IS CERTAINLY NOT A TOPIC UNIQUE TO THE MUSCULAR DYSTROPHIES BUT WHAT WE'VE SEEN IN THE DYSTROPH IES IN RECENT YEARS IS THERE IS A BIG INCREASE IN THE NUMBER OF CLINICAL TRIALS AND NUMBER OF COVERT STUDIES AND OUR ANALYSIS OF CURRENTLY ACTIVE DEMONSTRATED THERE IS A SIGNIFICANT NEED FOR BETTER STRESSING THIS ISSUE IN TRYING TO INCREASE THE DIVERSITY OF THE COHORTS THAT ARE BEING STUDIED. SO WE DO THINK THIS IS ESPECIALLY IMPORTANT TOPIC FOR THE DYSTROPHIES AND PERHAPS THROUGH COORDINATED EFFORTS THROUGH OUR COMMITTEE WE COULD HAVE AN IMPACT ON THIS AND IT MAY ACTUALLY RIPPLE OUT TO OTHER FIELDS OF RESEARCH. SO THE PLAN FOR THIS SESSION IS TO HAVE A SERIES OF SHORT TALKS AND THEN A PANEL DISCUSSION AT THE END SO THE TALKS WILL START WITH A PATIENT ADVOCATE PERSPECT IVE FROM HEATHER WATKINS AND THEN WE'LL HAVE A PRESENTATION FROM DR. AYE OBJECT OBJECT FROM THE FOOD AND DRUG ADMINISTRATION AND NATALIE STREET FROM THE CENTERS FOR DISEASE CONTROL AND PREVENTION AND FROM THE UNIVERSITY OF PUERTO RICO WITH AN UNEXPECTED CLINICAL COMMITMENT HE HAD TO TEND TO TODAY SO HE SENT A VIDEO OF HIS PRESENTATION AND WE'LL SHOW THAT TO YOU AND THEN WE'LL HAVE THE PANEL DISCUSSION THAT INCLUDES PERSPECTIVES FROM INDUSTRY FROM JOAN DONOVAN AT EDGEWISE AND AS DR. BIANCHI PREVIOUSLY MENTIONED WE'LL HAVE BATHULIA. THE GOAL OF THE SECTION IS DO MORE THAN ADMIRE THE PROBLEM. WE'D LIKE TO IDENTIFY RESOURCES TO FACILITATE PARTICIPATION IN RESEARCH STUDIES REGARDLESS OF GENDER, RACE, ETHNICITY OR EVEN SOCIO ECONOMIC STATUS. SO THE GOAL HERE IS REALLY TO EN SURE THAT THE DISCOVERIES AND TREATMENTS THAT ARE DEVELOPED FROM MUSCULAR DYSTROPHIES WILL BE APPLICABLE TOOL ALL OF THE PEOPLE WHO ARE AFFECTED AND ALONG THE WAY I THINK WE SHOULD CONSIDER STEPS ON WHAT EACH OF THE STAKEHOLDERS CAN DO. SO WHAT CAN WE DO AS FUNDING ORGANIZATIONS, WHAT CAN PATIENT ADVOCACY GROUPS AND WHAT CAN RESEARCHERS DO TO HELP RECRUIT DIVERSE COHORTS AND REALLY TRY TO REDUCE OR ELIMINATE BARRIERS FOR STUDIED PARTICIPATION. NEXT SLIDE. SO I REALLY WANTED TO THANK THE NIH STAFF WHO CONTRIBUTED TO THIS AND I'D LIKE TO GIVE THEM EACH AN OPPORTUNITY TO INTRODUCE THEMSELVES. I THINK THEY SHOULD BE ON THE LINE AND IN ALPHABETICAL ORDER, RICHARD PINSON. RICHARD, ARE YOU ON WITH US? MAYBE NOT. HOW ABOUT EMILY CARIFY. >> YES, I AM HERE. >> GO AHEAD RICHARD. >> SORRY I COULDN'T UNMUTE MY SELF. HI I'M THE DIRECTOR OF THE OFFICE OF GLOBAL HEALTH AND HEALTH DISPARITIESTIES AT THE NIH. >> HI. I'M THE PROGRAM DIRECT FOR THE MUSCLE THERAPY AT NIAMS AND I'M GLAD WE'RE HAVING THIS TOPIC. >> EMILY ACTUALLY FIRST RECOMMENDED THIS TOPIC FOR US. TRACY? >> HI I'M TRACY KING, I'M A MED ICAL OFFICER IN THE INTELLECTUAL AND DEVELOPMENTAL BRANCH AT NICHD AND RELEVANT TO THIS TOPIC I'M ONE OF THE CO- CHAIRS OF THE DIVERSITY OF WORK GROUP FOR THE RARE DISEASE CLINICAL RESEARCH NETWORK. >> AND MARY PIERRE. >> HI. I AM A PROGRAM SPECIALISTS AT NICHD. >> SO THANKS TO ALL OF THE NIH STAFF AND TO ALL OF THE OTHER PEOPLE WHO HAVE PARTICIPATED IN THIS SESSION AND WITH THAT I'LL TURN IT BACK TO YOU DR. BIANCHI TO INTRODUCE THE FIRST SPEAKER. >> THANK YOU DR. NUCKOLLS. WE WE ARE DELIGHTED TO HAVE HEATHER WATKINS, A DISABILITY ADVOCATE AND A PERSON LIVING WITH MUSCULAR DYSTROPHY. SHE SERVES ON A NUMBER OF DIS ABILITY RELATED BOARDS AND CHAIRED THE COMMISSION OF THE ADVISORY BOARD OF THE CITY OF BOSTON. SHE CURRENTLY SERVES ONADVISORY BOARD OF THE NATIONAL RESEARCH CENTER FOR PARENTS WITH DIS IGIBILITIES WRITES A BLOG NOTHING TITLED SLOW WALKERS SEE MORE. LET'S WELCOME HEATHER WATKINS. THANK YOU FOR JOINING US. >> THANK YOU VERY MUCH FOR HAVING ME HERE TODAY. I'M DELIGHTED TO SPEAK. I AM A BOSTON BASED DISABILITY RIGHTS ADVOCATE. WE SHARED ON A HANDFUL OF DIS ABILITY RELATED BOARDS AND PROJECTS INCLUDING JUST AS YOU SAID, THE BOSTON MAYORS COMMISSION FOR PERSONS WITH DIS ABILITIES ADVISORY BOARD AND I DID SO IN THAT CAPACITY FOR SEVEN YEARS, THE LAST TWO AS BOARD CHAIR AND I AM A MOTHER AND I WAS BORN WITH A FORM OF MUSCULAR DYSTROPHY AND AT THE TIME I DIDN'T USE DISABILITY AIDS FOR MANY YEARS SUCH AS A CANE, WHEELCHAIR AND A VENTILATOR. I STARTED TO USE THOSE KINDS OF DURABLE MEDICAL EQUIPMENT IN MY 30s AND NOW PUSHING ALMOST 50 SO IT WAS QUITE AN EVOLUTION. MY PATIENT EXPERIENCE INCLUDES BEING DIAGNOSED AT FIVE #. WHEN I WAS A BABY I WOULD CRAWL WITH MY HEAD DOWN AND MY MOTHER TOOK ME TO THE LOCAL COMMUNITY HEALTH CENTER WHERE ONE OF THE PEDIATRICIANS SAYS WELL SHE'S JUST A FRAGILE BABY SHE WOULD GROW OUT OF IT. IT WAS MY GRANDMOTHER, MY FATHER 'S MOTHER WHO HAD GROWN UP IN THE SOUTH IN MISSISSIPPI AND HAD 10 CHILDREN THAT SAID WELL LET'S WAIT A MINUTE HERE. AND REALLY PUSHED HER TO PRESS THE DOCTORS A LITTLE BIT MORE FOR A MORE COMPLETE AND THOROUGH DIAGNOSIS, BECAUSE AS YOU KNOW SHE WAS OBSERVING THE GROWTH AND DEVELOPMENT TRAJECTORY THAT DIDN'T QUITE SIT WELL OF WITH ALL OF WHAT SHE KNEW BE AG MOTHER AND ALSO HAVING ASSISTED IN DELIVERIES WHERE SHE GREW UP. AND THEN I THEN FOLLOWED RE FERRED ON TO BOSTON CHILDRENS HOSPITAL AND THEY DID ALL OF THE DIAGNOSTIC TESTS AND REALLY DISCOVERED THAT I HAD A FORM OF MUSCULAR DYSTROPHY, WHICH THEY'VE ALWAYS JUST CLASSIFIED AS CONGENITAL MYOPATHY. SO THROUGHOUT MY CHILDHOOD, TEEN AND YOUNG ADULT YEARS AND THEN LATER ON THROUGH TUFFS MEDICAL CENTER AND IT IS MY DISABILITY, MY MUSCULAR DYSTROPHY, A FORM OF MUSCULAR DYSTROPHY, AS I SEE HAS ALWAYS BEEN A SLOW PROGRESSION TO EVOLVING IN USING THE MOBILITY AIDS, DEPENDING UPON THE DAY, WHETHER HORMONES, STRESS, ALL OF THE FACTORS THAT MIGHT FLUCTUATE AND DICTATE THAT CHANGE. IN TERMS OF EXPLORING TO OTHER PEOPLE OF COLOR WHO HAD MUSCULAR DYSTROPHY DIDN'T REALLY KNOW ANY AND THE ONLY TIME I CAME INTO CONTACT WAS THROUGH MDA SPONSOR ED EVENTS, MUSCULAR DYSTROPHY ASSOCIATED EVENTS AND SUMMER CAMPS AND THAT WOULD BE MAY BE ONE OR TWO PEOPLE AND ALWAYS OUTSIDE OF THE COMMUNITY, THERE WASN'T ANYONE IN MY LOCAL COMMUNITY THAT HAD MUSCULAR DYSTROPHY THAT I WAS AWARE OF. IT WASN'T UNTIL ALSO MANY YEARS LATER BECOMING INVOLVED IN THE ACTIVE DISABILITY RIGHTS COMMUNITY THAT I BEGAN TO MEET MORE PEOPLE WITH MUSCULAR DYSTROPHY WHO SHE HAD ALL OF THESE DIFFERENT STORIES THAT WOULD HAVE BEEN GREAT TO KNOW ABOUT IN MY YOUTH AND YOUNG A DULTHOOD. IT IS VERY BENEFICIAL NOW BUT I CAN ONLY IMAGINE WHAT IT WOULD HAVE DONE TO MY SELF-AWARENESS BACK THEN. IN TERMS OF RESEARCH PARTICIPANT EXPERIENCE, GLENN HAD TO ASK ME THE OTHER DAY AND I COMPLETELY FORGOT THAT I HAD BEEN APART OF THE BIGGEST STUDIES CALLED THE BLACK WOMEN'S HEALTH STUDIES SINCE THE 90s AND THAT'S ON GOING. OTHER HEALTH AND DISABILITY RELATED STUDIES REVOLVE AROUND PRIMARY CARE ASSISTB, HOME AND COMMUNITY BASED SERVICES AND PARENTING AND MENTAL HEALTH. THOSE ARE JUST SOME OF THESE STUDIES THAT I'VE BEEN INVOLVED WITH BUT DEFINITELY THE BLACK WOMEN'S HEALTH STUDY THAT IS ONE ON-GOING THAT I'M PROUD TO BE A PART OF BECAUSE WE'VE BEEN LEARNING SO MUCH MORE ABOUT HEALTH CARE THAT IS CENTERED ON BLACK WOMEN. ONE OF THE THINGS THAT I REALLY LIKE ABOUT A LOT OF THE DIFFERENT STUDIES THAT I'VE BEEN INVOLVEIND, ESPECIALLY THE ONES THAT HAVE BEEN DISABILITY RELATED IS THAT THEY ARE VARIOUS WAYS OF ENGAGEMENT FROM E-MAILS TO VIRTUAL MEETINGS, MAIL, IN- PERSON AND I KNOW THAT'S MORE DIFFICULT NOW BECAUSE OF COVID PROTOCOLS, BUT THAT'S ELLIE HELPFUL FOR PEOPLE COMING FROM ALL KINDS OF SOCIO AND ECONOMIC BACKGROUNDS WHERE TRANSPORTATION , CHILD CARE, TIME OFF OF WORK, ATTENTION SPANS, PHYSICAL AND MENTALERAL MENTAL WHERE WITH ALL, MAY BE A CHALLENGE. AND ALSO MANY OF US WHO LIVE IN INTERDEPENDENT MONTH-GENERATIONAL HOUSE HOLDS WHO MIGHT BE SANDWICHED IN BETWEEN TAKING CARE OF CHILDREN AND ALSO ELDERLY RELATIVES AND PARENTS, THAT WAS CERTAINLY MY EXPERIENCE. THE OTHER THING THAT I'M REALLY PROUD OF THAT IS COMING UP FOR ME IN TERMS OF BEING ON THE OTHER END OF RESEARCH IS BE AG PEER RESEARCHER AND THAT WILL BE STUDYING THE PREGNANCY HEALTH CARE DISPARITIES AMONG BLACK AND LATINO WOMEN WITH PHYSICAL DIS ABILITIES, THAT WILL BE THROUGH THE WORRY CENTER AT BRANDX UNIVERSITY. SO THAT IS PRETTY MUCH SUMMARIZE S MY PATIENT EXPERIENCE AND RESEARCH PARTICIPANT EXPERIENCE THAT I'M HAPPY TO SHARE HERE TODAY WHERE YOU GET TO LEARN AND TO BE APART OF THIS WONDERFUL, DYNAMIC LEARNING EX CHANGE. THANK YOU FOR HAVING ME. >> THANK YOU SO MUCH HEATHER, FOR SHARING YOUR PERSON EXPERIENCES. WE'RE DELIGHTED YOU'RE PARTICIPATING IN DR. MITROS RESEARCH PROJECT FUNDED BY NICHD SO WE APPRECIATE YOUR PARTICIPATION, WHICH IS EXACTLY WHAT WE'RE FOCUSING ON TODAY. SO ARE THERE QUESTIONS FOR MRS. WATKINS? I CAN ONLY SEE A LIMITED PART OF THE SCREEN. LET'S SEE. IS I DON'T SEE ANY QUESTIONS. GOING ONCE, GOING TWICE. NOTHING IN THE QUAER. THAT WAS PRIOR QUESTION. WITH THAT WE WANT TO THANK YOU. OUR NEXT PRESENTER WHO IS RADM RICHARDAE ARAOJO WHO IS FROM THE FOOD AND DRUG ADMINISTRATION. THE ASSOCIATED COMMISSIONER FROM THE DIRECTOR OF MINORITY HEALTH. THE TITLE OF HER PRESENTATION IS AN FKA PERSPECTIVE ADVANCING RACIAL AND ETHNIC MINORITY PARTICIPATION IN CLINICAL TRIALS >> THANK YOU SO MUCH. GOOD AFTERNOON EVERYONE. IT IS A PLEASURE TO BE HERE WITH ALL OF YOU TODAY. I AM GOING TO SHARE MY SCREEN SO I CAN BRING UP MY SLIDES AND JUST CONFIRM YOU CAN HEAR ME OKAY. >> YES, WE CAN HEAR YOU WONDER FUL. >> THANK YOU. CONFIRM YOU CAN SEE THESE IN THE APPROPRIATED VIEW. >> YES IN THE PRESENTATION VIEW. >> GREAT. AS MENTIONED I AM RICHARDAE ARAOJO ASSOCIATED COMMISSIONER OF THE MINORITY HEALTH RACIAL AND ETHNIC MINORITIES IN 58 CLIN ICAL TRIALS AND HIGHLIGHT THE WORK WITHIN THE OFFICE. MY DISCLAIMER, NOTHING TO DECLARE. SO BY WAY OF BACKGROUND THE OFFICE OF MINORITY SHELT HEALTH EQUITY WORKS TO PROTECT AND PRO MOTE THE HEALTH OF RACIAL AND ETHNIC MINORITIES TRAVEL POPULATIONS BY FOCUSING OUR EFFORTS ON RESEARCH AND AVERAGE COMMUNICATION THAT WORK TOWARDS ADDRESSING HEALTH DISPARITIES. OUR OFFICE SITS WITHIN THE OFFICE OF THE COMMISSIONER, SO WE ENGAGE BROADLY. OF COURSE WE HAVE OUR FDA CENTER S THAT ARE FOCUSED ON PRODUCT APPLICATION REVIEW. OUR OFFICE ENGAGES BROADLY AND AS I MENTIONED WE FOCUS OUR EFFORTS IN TWO KEY AREAS IN RESEARCH AND OUTREACH AND COMMUNICATION THAT WORKS TOWARDS ADDRESSING HEALTH DISPARITIES. OUR RESEARCH IN COLLABORATION PROGRAM AIMS TO ADVANCE MINORITY HEALTH AND HEALTH EQUITY FOCUSED RESEARCH AND GO THIS BY SUPPORT ING EXTERNAL AND INTERNAL RESEARCH. WE PARTICIPATE IN A RANGE OF OPPORTUNITIES ACROSS ORANGES BUT ALSO SUPPORT INTERNS AND FELLOWSHIPS. OUR AVERAGE COMMUNICATION PROGRAM AIMS TO IMPROVE FDA'S COMMUNICATIONS WITH THE POP ULATIONS THAT WE SERVE AND WE DO THIS THROUGH A VARIETY OF CULTURALLY AND LINGUISTICLY. ONE OF OUR LONG-TERM INITIATIVES IS TRIALS AND INITIATIVE AND I'M GOING TO SPEND TIME TALKING ABOUT THIS IN JUST A MOMENT O. WE ALSO HAVE OUR LANGUAGE ACCESS PROGRAM WHERE WE WORK TO ENSURE THAT ACROSS ALL OF OUR TOOLS AND RESOURCES THAT WE ARE PROVIDING THIS INFORMATION IN MULTIPLE LANGUAGESSISM WE DEVELOP HEALTH EDUCATION MATERIALS, ENGAGE IN SOCIAL MEDIA OUTREACH, NEWS LETTERS, DEDICATED WEBSITE THAT ALSO HOUSES THE INFORMATION THAT I'M SHARING WITH YOU TODAY. WE HOST WEBINARS WHERE WE BRING EXPERTS IN THE SPACE OF MINORITY HEALTH AND HEALTH EQUITY TO SHARE INFORMATION WITH THE FDA AND PUBLIC AND COLLABORATIONS TO ADVANCE OUR MISSION. I DO WANT TO TAKE A MOMENT TO HIGHLIGHT THE BROADER EFFORTS OUR AGENCY HAS RELATED TO CLIN ICAL TRIAL DIVERSITY. OUR AGENCY HAS OF COURSE LONG WORKED TO ADVANCE PARTICIPATION IN CLINICAL TRIALS FROM HOSTING PUBLIC MEETINGS, DEVELOPING TOOL S, AS WELL AS GUIDANCE DOCUMENTS. NOW SHE OF THOSE GUIDANCE DOCUMENTS LISTED HERE. I WANTED TO HIGHLIGHTNING TO OUR RECENT DOCUMENT ISSUED IN NOVEMBER 2020 AND THIS GUIDANCE IS FOCUSED ON ENHANCING CLINICAL TRIAL POPULATIONS, ELIGIBILITY CRITERIA AND ENROLLMENT PRACTICE S AND TRIAL DESIGNS AND FOR THIS PARTICULAR GUIDANCE IT PROVIDES OUR AGENCIES CURRENT THINKING ON STEPS TO BROADEN ELIGIBILITY ON CLINICAL TRIALS THROUGH PRACTICES, TRIAL DESIGNS AND METHLOGICAL APPROACHES AND ALSO PROVIDES RECOMMENDATIONS FOR HOW SPONSORS CAN INCREASE ENROLLMENT AMONG REPRESENTED POP ULATIONS TO BETTER REFLECT THE POPULATIONS MOST LIKELY TO USE THE PRODUCT. AND IT ALSO PROVIDES RECOMMENDATIONS FOR BROADENNING ELIGIBILITY CRITERIA AND ENCOURAGING ENCOUNTER FOR CLIN ICAL TRIALS ON CLINICAL TRIAL DRUGS RELATED TO TREAT RARE DISEASES. TO SUPPORT ON FDA'S EFFORT WE DEVELOPED AN ON-GOING MULTI- MEDIA CAMPAIGN TO RAISE AWARENESS AND REALLY ADDRESS SOME OF THE BARRIERS PREVENTING DIVERSE GROUPS FROM PARTICIPATING IN CLINICAL TRIALS THROUGH A VARIETY OF STRATEGY TOOLS AND RESOURCES. OUR CAMPAIGN AIMS TO COMBAT MYTHS TO EDUCATE CONSUMERS ABOUT KEY ISSUES, PROVIDE POSITIVE MASSAGING SPOKESPERSON THROUGH A DIRECT REPRESENTATIVE. WE ALSO HOPE TO STIMUL DIALOGUE AND PEER GROUPS WHILE ALSO MAKING SURE OUR RESOURCE SOURCES OUR TRANSLATED INTO MULTIPLE LANGUAGES. WE HAVE PUBRIC SERVICE ANNOUNCEMENTS, PUBLIC MEETINGS, VIDEOS, WE HOSTED PODCASTS, ZEE A WEBSITE THAT HOUSES ALL OF OUR TOOLS AND RESOURCES AND WE HAVE BROAD ENGAGEMENT TO ADVANCE OUR EFFORTS AND CONSTANTLY WORKING TO ADD NEW TEAMS AND RESOURCES. THIS IS AN EXAMPLE OF SOME OF THE RESOURCES THAT WE HAVE AVAILABILITY. AS YOU CAN SEE HERE THESE ARE SNAPSHOTS FROM SOME OF OUR VIDEO S AND AGAIN MULTILINGUAL RE SOURCES AND WE'VE ALSO FEATURED TOPICS ON OUR HEALTH EQUITY FORM PODCASTISM AS I MENTIONED WE ALSO ENGAGE IN SOCIAL MEDIA OUTREACH AND UNOF THE AREAS THAT IS REALLY IMPORTANT FOR US WITH OUR SOCIAL MEDIA IS TO BE ABLE TO PROVIDE IMPORTANT KEY MESSAGES AND REACH BACK FOR MORE INFORMATION. I KNOW GLENN HIGHLIGHTED AT THE TOP OF THE SESSION HIGHLIGHTED BROAD RESOURCES AVAILABLE AND I THINK THESE ARE SOME OF THOSE RE SOURCES. WE HAVE A CLINICAL TRIAL DIVERSITY FACT SHEET AND A DEDICATED WEBSITE THAT HOUSES ALL OF THE TOOLS AND RESOURCES THAT WE HAVE AVAILABLE AND ALL OF THESE PROVIDE INFORMATION ABOUT CLINICAL TRIAL DIVERSITY AND WHAT IT MEANS TO PARTICIPATE IN A CLINICAL TRIAL. ACROSS ALL OF THE WORK WE DO WE WORK TO ENGAGE AS BROADLY AS POSSIBLE. NOW SEE SOME OF THE GROUPS WE ENGAGE HERE AND WE ARE CONSTANT LY WORKING TO EXPAND OUR ENGAGEMENT TO MAKE SURE WE'RE MEETING THE NEEDS OF THE ADVANCE POPULATION WE SERVE. ANOTHER AREA I WANTED TO HIGH LIGHT AND THIS ACTUALLY IS AN ARTICLE THAT WE'VE RECENTLY PUBLIXICIDE TALKING ABOUT ENGAGING COMMUNITY PROVIDERS AND CLINICAL RESEARCH. WE KNOW THERE ARE MANY STRATEGIES THAT HAVE BEEN DEVELOPED IN INCREASE ENROLLMENT OF DIVERSE POPULATIONS AND REALLY INCORPORATING THESE PROVIDERS IN A STUSTAINABLE WAY. I ALSO WANTED TO TAKE A MOMENT TO HIGHLIGHT THEIDATE FROM THE SNAP SHOTS PROGRAM. THIS PROGRAM ACTUALLY IS LED BY OUR CENTER FOR DRUG EVALUATION AND RESEARCH AND IT PROVIDES INFORMATION TO CONSUMERS ABOUT THOSE THAT AROUND IN CLINICAL TRIALS, THAT SUPPORTED FDA APPROVAL OF NEWINT DISEASE BIOLOGICS. FROM THIS PROGRAM THEY RECENTLY RELEASED THEIR FIVE YEAR SUMMARY OF ANALYSIS OF PARTICIPATION AND DEMOGRAPHICS AND WHAT WE SAW FROM THIS DATA IS FROM 2015-2019 BETWEEN 39% AND 59% OF ALL APPROVALS WERE FOR DRUGS FOR TREATING RARE DISEASES. WHEN WE LOOK AT THE BREAKDOWN OF THIS AGAIN AGGREGATE REPORTING FROM A RACIAL PERSPECTIVE WE HAD ABOUT 9% BLACK OR AFRICAN AMERICAN PARTICIPATION, ABOUT 11 % ASIAN, 1% AMERICAN INDIAN AND 9% OTHER. AND FROM AN ETHNICITY PERSPECTIVE 6% PARTICIPATION FROM HISPANICS OR LATINOS. AND LASTLY I WANTED TO END WITH HIGHLIGHTING ONE OF OUR MOST RECENT INITIATIVES, ENHANCED EQUITY INITIATIVE WHERE WE ARE HIGHLIGHTING OUR 44JECTS AND HIGHLIGHT COMMUNICATION RESOURCE S TO ENHANCE EQUITY IN CLINICAL TRIALS BY SUPPORTING EFFORTS TO ADVANCE DIVERSITY IN CLINICAL TRIALS, ADVANCING EQUIT ABLE DATA EFFORTS AND EQUI TY OF VOICES BY AMPLIFYING COMMUNICATION WITH RACIAL AND ETHNIC POPULATIONS AND SUPPORT ING EFFORTS TO UNDERSTAND PERSPECTIVES AND UNMET NEEDS. THANK YOU SO MUCH THIGHLIGHT SOME OF THE EFFORTS ACROSS OUR OFFICE AND OUR CONTACT INFORMATION CAN BE FOUND HERE. THANK YOU. THANK YOU SO MUCH RICHARDAE. THANK YOU FOR THAT EXCELLENT PRESENTATION. NOW WE CAN TAKE QUESTIONS. AGAIN, LET ME SEE IF I CAN GET THE GALLERY VIEW. DON'T BE SHY. RAISE YOUR HAND. >> SO I HAVE A QUESTION. YOU KNOW I THINK BOTH FDA AND NIH CERTAINLY ENCOURAGES THAT CONSENT FORMS AND OTHER DOCUMENTS AND SO FORTH ARE TRANSLATED TO SPANISH WHENEVER POSSIBLE BUT I'VE HEARD QUESTIONS FROM INVESTIGATORS ABOUT IF THEY DON'T HAVE ON-SITE HELP TO DO THAT ARE THERE PLACES THEY CAN TURN TO GET ACCURATE TRANSLATION OF THESE DOCUMENTS? >> I WILL SAY WE HIGHLY ENCOURAGE THAT INFORMATION IS TRANSLATED THAT IS PROVIDED IN MULTIPLE LANGUAGES AND IF YOU EVEN HAVE THE OPPORTUNITY TO HAVE TRANSLATORS ON-SITE AND AVAILABLE OUR OFFICE WE OF COURSE HAVE NATIVE SPEAKERS THAT ACTUALLY HELP US REVIEW SOME OF THE MATERIALS THAT WE PUT OUT ON SOME OF OUR HEALTH EDUCATION MATERIAL MATERIALS BUT WE ALSO KNOLL MANY OTHERS AND COMPANIES THAT ALSO PROVIDE THOSE SERVICES WE OF COURSE ENGAGE TO ANSWER YOUR QUESTION WE DEFINITELY KNOW ORGANIZATIONS OUT THERE THAT PROVIDE THOSE SERVICES AND WE DEFINITELY ENCOURAGE TRANSLATION OF MATERIALS. ANY OTHER QUESTIONS FOR RICHARDA E? IF NOT WE'LL GO ON TO THE NEXT PRESENTATION. THANK YOU AGAIN. THAT IS FROM NATALIE STREET OUR COMMIT'S REPRESENTATIVE FROM THE CENTERS FOR DISEASE CONTROL AND PREVENTION WHERE SHE IS A HEALTH SCIENTIST IN THE DIVISION OF HUMAN DEVELOPMENT AND DISABILITY NATALIE ALWAYS BRINGS HARD DATA TO INFORM OUR DISCUSSIONS. THE TITLE OF HER PRESENTATION TODAY IS PREVALENCE AND DISPARITIES IN MUSCULAR DYSTROPHIES. NATALIE OVER TO YOU. >> THANK YOU VERY MUCH FOR THAT INTRODUCTION. LET ME SHARE MY SCREEN. LET ME KNOW WHEN YOU CAN SEE MY SCREEN. ARE YOU SEEING MY SLIDES? >> UNFORTUNATELY NO. WE SEE YOU BUT WE DON'T SEE YOUR SLIDES. DID YOU HIT SHARE SCREEN? >> YES, I DID. OKAY HERE WE GO. >> THERE YOU GO. >> OKAY. GREAT. THANK YOU. THANK YOU AGAIN FOR ALLOWING ME TO PRESENT ON PREVALENCE AND DISPARITIES IN MUSCULAR DYSTROPHIES. REALLY I THINK THE PURPOSE OF THIS PRESENTATION IS TO REVIEW WHAT IS KNOWN ABOUT THE DIFFERENT TYPES OF MUSCULAR DYSTROPHIES AND THE PREVALENCE PARTICULARLY IF WE HAVE THE DATA BY RACE AND ETHNICITY IN THE U.S . SO I WANTED TO DO THAT TODAY AS WELL AS HIGHLIGHT A STUDY THAT CAME OUT OF THE STAR NET RECENTLY ON DISPARITIES IN CLINICAL TRIAL PARTICIPATION BY RACE AND ETHNICITY. REVIEWING THE PREVALENCE IN MOR TALITY THAT I'M GOING TO RE VIEW TODAY CAN HELP US UNDERSTAND HOW COMMON THE MD TYPES ARE BY RACE AND ETHNICITY AND IN TURN INFORM EXPECTATIONS FOR ENROLLMENT IN CLINICAL TRIAL S. TO GIVE YOU AN IDEA OF THE RELEVANT WORD OF PREVALENCE IN MUSCULAR DYSTROPHIES WE CAN LOOK AT THE RECENT MEDICAL REVIEWS AND ANALYSIS DONE OVER THE PAST MAY BE FIVE OR SIX YEARS OF WORLDWIDE POPULATION BASED STUD IES. THERE WERE TWO MANUSCRIPTS IN PARTICIPATE I'M GOING TO HIGH LIGHT THAT DESCRIBE THE PREVALENCE PER 100,000 MALES AND FEMALES ACROSS ALL AGE-GROUPS. SO AS YOU CAN SEE THE OVERALL PREVALENCE FROM THAT PARTICULAR STUDY OF MD IS 16 AND 100,000 AND THEN YOU CAN SEE THE LIST OF OTHER MUSCULAR DYSTROPHIES ON THE LIST GOING DOWN PRIMARILY BY HOW COMMON THE MUSCULAR DYSTROPHY IS. SO YOU START OFF WITH MITONIC DYSTROPHY AT 8 IN 100,000 AND THEN YOU GET TO DUCHENNE WITH ABOUT FIVE AND 100,000 AND THEN FHSX D IS 4 IN 100,000 AND IT GOES DOWN FROM THERE. THAT'S JUST TO GIVE YOU A SENSE OF HOW COMMON THESE ARE ACROSS THE WORLD. A LOT OF THESE STUDIES ARE PRIMARILY BASED IN EUROPE OR NORTH AMERICA BUT THERE ARE SOME THAT WERE CONDUCTED IN CHINA, JAPAN AND EGYPT. SO STARTING OFF WITH THE MOST PREVALENT TYPE OF MUSCULAR DYSTROPHY, WHICH IS TONIC TYPE 1 , JOHNSON ADELL RECENTLY INVESTIGATED PREVALENCE OF MI TONIC TYPE 1 AND IN FACT DR. JOHNSON RECENTLY I BELIEVE PRESENTED THESE FINDINGS AT A RECENT MBC MEETING. THE OBJECTIVE OF THAT STUDY WAS TO DETERMINE THE GENETIC PREVALENCE OF THE REPEAT EX PANSION IN THE GENE THAT CAUSE S DM1 AND HOW THEY DID THAT WAS THEY TOOK A D IDENTIFIED BLOOD SPOTS FROM THE NEWBORN SCREENING PROGRAM IN NEW YORK FROM CONSECUTIVE BIRTHS IN 2013- 2014 AND OF 50,000 CONSECUTIVE BIRTHS THERE WERE 24 THAT HAD A REPEAT EXPANSION OF MORE THAN 50, WHICH IS CONSISTENT OF THE DIAGNOSIS OF D MV1. THIS REPRESENTS A SIGNIFICANTLY HIGHER DM1 PREVALENCE OF 4.76 PER 10,000 BIRTHS OR 1 IN EVERY 120 BIRTHS. WHAT WAS INTERESTING ABOUT THIS TOO WAS THAT THEY TESTED 21 SAMP LES FOR GENETIC ANCESTRY AND THE GENETIC ANCESTRY OF INDIVIDUALS WITH THE EXPANSIONS REFLECTED THE NEW YORK POP ULATION WITH 52% EUROPEAN, 33 % AD-MIXED AMERICAN, 10% EAST ASIAN AND 5% SOUTH ASIAN. NONE OF THE 21 SAMPLES AVAILABLE FOR ANALYSIS SHOWED SIGNIFICANT AFRICAN ANCESTRY, WHICH IS CONSISTENT WITH PREVIOUS STUDIES THAT OBSERVED THE LOWER STUDIES OF THE DM1 IN AFRICAN POPULATION S SO THIS REALLY HIGH LIGHTED THAT BIRTH PREVALENCE OF DM1 IS HIGHER THAN PREVIOUS ESTIMATES AND THIS COULD BE DUE TO MANY HAVING A MILDER DISEASE OR A LATER DISEASE ONSET AND MAY BE GOING UNDIAGNOSED. SO BEFORE I GO ON TO SOME OF THESE OTHER STUDIES BECAUSE THEY COME FROM THE STAR NET DATA I JUST WANTED TO BRIEFLY HIGHLIGHT THE METHODOLOGY BEHIND MD STAR NET. SO THE MD STAR NET OR THE MUSCULAR DYSTROPHY SURVEILLANCE NETWORK IS A MULTI-SITE SERVICE SYSTEM FOR MUSCULAR DYSTROPHY IN THE U.S., ITS POPULATION BASED MEANING THAT WE TRY TO GET EVERYBODY WAIN SPECIFIC GEOGRAPHIC AREA THAT HAS MUSCULAR DYSTROPHY THROUGH ACT IVE SURVEILLANCE SO WE GO TO DIFFERENT SOURCES TO TRY TO GATH ER INFORMATION. OUR DATA IS BOTH ACTUALLY CROSS- SECTIONAL AND WE DO MORE FOLLOW-UP ON SOME POPULATIONS. OUR DATA SOURCES ARE PRIMARILY MEDICAL RECORDS FROM NEURO MUSCULAR CLINICS ALTHOUGH WE GO TO OTHER CLINIC SOURCES AS WELL. ADMINISTRATIVE DATA IS ALSO INCLUDED AND THIS IS ADMINISTRATIVE DATA FROM BIRTH DEATH CERTIFICATES AND HOSPITAL DISCHARGE. AND WE HAVE THE MD STAR NET STARTED IN 2002 AFTER THE MD CARE ACT WAS PASSED. THERE HAD BEEN FOUR PHASES OF MD STAR NET THAT VARIED ON THE TYPE OF MUSCULAR DYSTROPHY THAT WAS FOCUSED ON AND WITH THE MORE RECENT PHASES INCLUDING EIGHT ELIGIBLE MUSCULAR DYSTROPHIES. ALL OF THE SITES HAVE INSTITUTIONAL REVIEW BOARD APPROVAL OR EXEMPTION AND/OR PUBLIC HEALTH AUTHORITY THAT VAR IES BY SITE. SO FEIGNS TWO OF MD STAR NET AFTER DOING ABOUT 10 YEARS SURVEILLANCE WE DID A PILOT TO DETERMINE IF WE COULD USE THE MD STAR NET METHODOLOGY TO FIND AND DESCRIBE PEOPLE THAT HAD OTHER TYPES OF MUSCULAR DYSTROPHY IN MORE U.S. SITES. SO THIS IS SOME OF THE DATA THAT CAME OUT OF THAT PILOT STUDY. THERE IS REALLY A LACK OF PREVALENCE DATA ON THE NON- DISTRICT MUSCULAR DYSTROPH IES IN THE U.S. SO THIS IS REALLY PRETTY UNIQUE DATA AND WE DO INTEND TO FOLLOW THIS UP WITH SOME PREVALENCE STUDIES FOR SOME OF THESE CONDITIONS. THE DATA SHOWN IN THE TABLE CAN ALSO POINT YOU TO US. >> RELATIVE FREQUENTANCY BY RACE AND ETHNICITY IN THE DIFFERENT TYPES. SO THE MOST COMMON OF THESE ARE INCLUDED IN THIS TABLE BUT ARE NOT BECAUSE THEY WERE SUCH LOW NUMBERS. I THINK SOME OF THE THINGS YOU CAN SEE ARE THAT PERPLEX OR AFRICAN AMERICANS MUSCULAR DYSTROPHY RANGES FROM ZERO FOR O PMD TO LIKELY REFLECTING A FOUNDER EFFECTS THERE AND TO 5.4 % FOR LGMD AND NOTE FEWER THAN FIVE CASES FOR FHSHD IN CONGENITAL MUSCULAR DYSTROPHY, SO THESE NUMBERS COULD NOT BE REPORTED. FOR PEOPLE THAT HAD MULTIPLE OR OTHER RACE THE LOWEST PERCENTAGE S WERE AN FSHD MITONIC ALL OF THE WAY TO THE HIGHEST PERCENTAGES IN CONGENITAL MUSCULAR DYSTROPHY. AND THE HISPANICS THE RANGE WAS FROM A LOW OF 7.9% TO 34.5%. AND AGAIN THIS REFLECTS A LARGE PERCENTAGE OF HISPANICS ETHNIS FRY OPMD IN PARTICULAR IN ONE SITE. HOWEVER WE DO RECOGNIZE THAT IT IS DIFFICULT SOMETIMES TO GET ETHNICITY SPIN OF THE RECORDS DATA AND SO YOU CAN SEE THAT FOR SOME OF THESE AND PARTICULARLY FOR THE ADULT ONSET WE HAVE HIGH ER PERCENTAGES OF THE UN KNOWN AS YOU'LL SEE. SO AGAIN AS I WAS SAYING EARLIER WE INTEND TO FOLLOW UP ON THIS DATA WITH THE DATA THAT WE'RE CURRENTLY COLLECTING TO LOOK AT PREVALENCE IN OTHER TYPES OF MUSCULAR DYSTROPHY. SO MOVING ON TO DUCHENNE AND BECKER WHICH WE KNOW A LITTLE BIT MORE ABOUT THROUGH CDC FUND ED DIFFERENT SCREENING STUDY CONNECTED IN OHIO INVESTIGATORS TESTED A 2-2 METHOD OF SCREENING THAT TESTED CK AND OBTAINED THROUGH TRADITIONAL NEWBORN SCREENING. FURTHER TESTED FOR MUTATIONS IN THE DMD GENE TO TEST THE FEASIBILITY OF THIS METHOD IN HOW THIS WOULD WORK IN A REAL- LIFE SETTING AND ALSO ESTIMATED TO BE SIX IN 37,649 NEWBORN MALES OR 15.9 IN 300,000 MALES. AND THIS NUMBER IS CONSISTENT WITH THE SIMILAR NEWBORN SCREEN ING PROGRAM THAT WAS CONDUCTED IN WALES. MD STAR NET HAS ALSO PUBLISHED THREE MANUSCRIPTS ON DMD PREVALENCE BY RACE AND ETHNICITY THREE DIFFERENT METHODS ON PREVALENCE AS WELL AS UPDATED DATA FROM THE PREVIOUS 2015 BAKER WITH FIVE YEARS OF ADDITIONAL DATA AND DATA FROM EIGHT SITES AS OPPOSED TO SIX IN 2015. AS YOU CAN SEE THE RANGE IN PREVALENCE ACROSS THE YEARS FOR FIVE TO NINE YEAR OLDS IS HIGH EST IN HISPANICS FOLLOWED BY NON-HISPANIC WHITES WITH THE LOW EST PREVALENCE IN NON- HISPANIC BLACKS AND THESE RESULTS ARE CONSISTENT WITH THOSE REPORTED EARLIER IN 2015. ONE QUESTION RAISED HAS BEEN WHETHER THERE ARE LOWER PREVALENCE RATES FOR DMD OR FOR OTHER TYPES OF MUSCULAR DYSTROPHY IN NON-HISPANIC BLACKS DUE TO MAY BE ACCESS OF CARE ISSUES OR IF THERE ARE TRULY A LOWER PREVALENCE. THERE WAS A STUDY BY SOFTBURG GOODELL WHERE THEY USED DATA TO CALCULATE MORTALITY RATES BY RACE AND ETHNICITY WITH MD AND FOCUSED ON UNDERLINING MULTIPLE CAUSE OF DEATH. AND AS YOU CAN SEE HERE THEY FOUND 3,256 DEATHS IN MALES LESS THAN 40 YEARS WITH MUSCULAR DYSTROPHY AS THE CAUSE OF DEATH. AND THEY LOOK LOOKED AT DATA BETWEEN 2006-15. SO THEY LOOK TED AVERAGE DEATH RATE AND THEY FOUND THAT THE MOR TALITY RATES INDICATE A HIGH ER PREVALENCE IN DMD IN WHITES THAN MALES OF OTHER RACES WITH THAT SAID THERE HAVE BEEN EARLIER MORTALITY THAT LOOKED AT TRENDS IN MUSCULAR DYSTROPHY THAT IS BY RACE AND ETHNICITY AND WHILE THERE APPEARS TO BE A LORE MORTALITY RATE IN BLACKS THE AGE OF DEATH WAS YOUNGER IN BLACKS THAN WHITES AS REPORTED IN THIS 2006 PAPER THEY ALSO LOOKED AT THE MULTIPLE CAUSE OF MORTALITY IDENTIFIED. FROM THE PERIOD OF 1983 TO 1998 THEY IDENTIFIED APPROXIMATELY 15,000 DEATHS WITH ICD WITH THOSE WITH MUSCULAR DYSTROPHY. SO THE MORTALITY RATE THERE WAS .365 PER 100,000 PEOPLE PER YEAR BUT THE MORTALITY RATE WAS HIGH ER IN WHITES THAN BLACKS AND THE IMMEDIATE AGE OF DEATH WAS LOWER IN BLACK MALES AT 23 YEARS THAN WHITE MALES IN 27 YEARS. THEY ALSO FOUND THAT CARDIAC COMPLICATIONS WERE ALSO MORE COMMON AS CAUSES OF DEATH IN BLACKS THAN IN WHITES. THIS ARTICLE SHOWED THE MOR TALITY RATES FOLLOWED A TRI MODAL DISTRIBUTION. SO YOU CAN SEE THE PEAK IS RALLY AT THE AGE OF 15-24 YEARS IN BOTH WHITE AND BLACK POPULATIONS AND THIS IS ASSOCIATED SEEMED TO BE ASSOCIATED WITH THE DETY ASSOCIATED DEATHS. IN THE MORE RECENT SOLSBURG PAPER THE MORTALITY RATE WAS HIGHER IN WHITES THAN BLACKS, PARTICULARLY STRIKING IN THIS AGE. NOW FURTHER INVESTIGATED TRENDS DISPARITIES IN A 2010 PAPER, WHICH AGAIN CONFIRMED THE AGES OF DEATH WERE SIGNIFICANTLY DIFFERENT BETWEEN WHITES BLACKS AND BETWEEN MALES AND FEMALES SO THEY LOOKED AT A PERIOD THAT WAS A LITTLE BIT MORE RECENT THROUGH 2005 AND IDENTIFIED MORE THAN 18,000 DEATHS. AGAIN THEY LOOKED AT THE CODES FROM MUSCULAR DYSTROPHY AND CAUSES OF DEATH. WHERE MEDIAN AGES OF DEATH WERE THAT WHITE MALES WERE 33 YEARS, BLACK MALES WAS 23 YEARS WHITE FEMALES 63 AND BLACK FEMALES 51 YEARS SO QUITE A DISCREPANCY. HOWEVER, WHILE THEY FOUND THE MEDIAN AGE OF DEATH INCREASED OVER TIME FOR ALL RACES WHITE MALES HAD GREATER INCREASES THAN BLACK MALES. AND YOU CAN SEE THIS IN THE GRAPH HERE. BETWEEN 1986 TO 2005. WHILE THE MEDIAN AGE OF DEATH IS INCREASING PERHAPS NOT MR. RACES ARE BENEFITING EQUALLY FROM THE RECENT CARE THAT HAS GOTTEN BETTER OVER THE YEARS. SO JUST IN SUMMARY FROM SOME OF THESE SLIDES HISPANICS ARE THE GROUP THAT HAD THE HIGHEST PREVALENCE IN DMD, PREVALENCE AND MORTALITY STUDIES SUGGEST BLACKS HAVE MORE MORTALITY FROM DMD THAN WHITE IN THE STUDIES. WHILE THE MEDIAN AGE OF DEATH HAS BEEN INCREASING OR IMPROVING FROM THOSE WITH MDs THOSE WITH MUSCULAR DYSTROPHY MAY NOT BE BENEFITING FROM THE RECENT AD VANCING IN CASE AS WHITES HAVE SO NOW I WANTED TO PIVOT FROM THE PREVALENCE AND MORTALITY STUDIES TO A STUDY THAT RECENTLY CAME OUT FROM MD STAR NET AS IT DIRECTLY RELATES TO THE TOPIC OF STRATEGIES TO INCREASE MINORITY PARTICIPATION AND RESEARCH. SO SO SINKS SITES, COLORADO, IOWA, NORTH CAROLINA, THE PIEDMONT REGION, SOUTH CAROLINA, UTAH AND 21 COUNTIES IN WESTERN NEW YORK THERE WAS A PAPER THAT DESCRIBED CLINICAL TRIALS IN PARTICIPATION IN 358 MALES WITH DUCHENNE. APPROXIMATELY ONE AND FIVE CASES WERE 18% PARTICIPATED IN A CLIN ICAL TRIAL; HOWEVER, THIS VARIED A LOT BY MD STAR NET SITE AS WELL AS BY RACE AND ETHNICITY SO THE RANGE ACROSS THE SITES WAS 3.7 TO ABOUT 4.4% TO ABOUT 27% IN ANOTHER SITE. THE AGES OF THOSE PARTICIPATING IN A CLINICAL TRIAL CLUSTERED BETWEEN SEVEN AND TWELVE YEARS. STEROIDS WERE THE MOST COMMON TRIAL MEDICATIONS AND NON- HISPANIC WHITES WERE MORE LIKELY TO BE PARTICIPATING IN A CLINICAL TRIAL THAN NON-HISPANIC BLACKS AND HISPANICS. CLINICAL TRIAL PARTICIPANTS RE SIDED IN COUNTIES OF LOWER PERJURIES OF NON-HISPANIC BLACKS , PARTICIPATION IN CLIN ICAL TRIALS BY COUNTY DID NOT DIFFER BY EDUCATION HOUSE HOLD INCOME, HOUSEHOLD POVERTY AND RURAL URBAN RESIDENTS. AND THE AUTHORS CONCLUDED THAT OBSERVING DIFFERENCES BETWEEN CLINICAL PARTICIPANTS AND NON- PARTICIPANTS IS CRITICAL IN HELPING US UNDERSTAND POSSIBLE BARRIERS PARTICIPATION AND TO MAXIMIZE THE GENERALIZED ABILITY OF TRIAL RESULTS. SO I JUST WANT TIDELIGHT SOME THINGS THAT ARE COMING UP IN MD STAR NET. AS I SAID EARLIER WE ARE ACTIVE LY COLLECTING DATA ON THE DIFFERENT MD TYPES THAT WILL BE USED TO ESTIMATE PREVALENCE BY M D TYPES SO BITONIC DYSTROPHY, F SHD, GIRDLE, GENITAL DYSTROPH IES AND UPDATING THE DUCHENNE AND BECKER AS WELL. WE HAVE A CURRENT STUDY THAT LOOKS AT RACIAL AND ETHNIC DISPARITIES IN DIAGNOSIS AND EARLY MILESTONES IN DUCHENNE AND BECKER THAT WE WILL HOPEFULLY BE SUBMITTED FOR PUBLICATION SOMETIME THIS YEAR AND WE ARE ALSO PLANNING TO LOOK MORE AT MORTALITY AND SURVIVAL IN THE DIFFERENT MUSCULAR DYSTROPHIES. AND WITH THAT I THANK YOU FOR YOUR ATTENTION AND I'M HAPPY TO ANSWER YOUR QUESTIONSISM. >> DR. BIANCHI: THANK YOU SO MUCH NATALIE. THIS WAS A REALLY WELL PRESENTED PRESENTATION. I HAVE A QUESTION FOR YOU. IS THE MD STAR NET PROGRAM COLLECT INFORMATION DISTINGUISH ING BETWEEN WHETHER PEOPLE ARE APPROACHED TO PARTICIPATE AND DECLINE OR WHETHER THEY ARE NOT APPROACHED AT ALL BECAUSE OF IMPLICIT BIAS? >> SO I'M GLAD YOU ASKED THAT QUESTION BECAUSE IN THE PAST OUR DATA HAD COLLECTED VERY LITTLE INFORMATION ABOUT CLINICAL TRIAL PARTICIPATION. IT WAS REALLY IS THERE IN THE MEDICAL RECORDS SOMEONE SAY SOMETHING ABOUT BEING IN A CLIN ICAL TRIAL AND WHICH ONE IS IT. BUT WE ARE NOW GOING TO BE START ING, RESTARTING CLOTA COLLECTION FOR DUCHENNE AND BECKER THIS YEAR. AND ONE OF THE PLACES THAT WE DECIDED TO COLLECT MORE INFORMATION WAS ON CLINICAL TRIAL PARTICIPATION WHETHER SOMEBODY WAS OFFERED AND DE CLINED OR OFFERED AND ARE IN A CLINICAL TRIAL SO I THINK WE WILL BE COLLECTING A LITTLE BIT MORE INFORMATION THAN WE HAD BEFORE. OF COURSE THAT'S ALL DEPENDENT A BLOOD PRESSURE THAT INFORMATION WAS IN THE MEDICAL RECORD SINCE THAT'S THE DATA SOURCE. >> DANNISM. THANK YOU. I HAVE A QUESTION. I HAVE A CONCERN ABOUT THE PRESENTATION. ONE ARE THE SATELLITES, THE NUMBER OF U.S. CITIES YOU USE IS NOT NUMBER. NOW USE A NUMBER BASED ON THE NEED YOU HAD 10 YEARS AGO, BUT IN FACT IT IS NOT ACTUAL FACTOR OF THE INCIDENT. THE SECOND COMMENT I HAVE IS OF YOUR DATA THE BLACK SOCIETY THE MORTALITY RATE OF MUSCULAR DYSTROPHY, LIKE SIX OR SEVEN, THAT'S NOT MUSCULAR DYSTROPHY THAT'S DUCHENNE. SO I JUST WANT TO REMIND YOU REPRESENTING THE DATA IN OUR COMMUNITY OF ALL OF THE DYSTROPHIES, THAT'S MISLEADING. YOU ARE SO FAR INTO THE PROGRAM, SO FAR INTO INTO THE WEEDS THAT YOU JUST INTERCHANGE THE TWO. TO DUCHENNE AND MUSCULAR DYSTROPHY. MUSCULAR DYSTROPHY IS NOT 33 YEARS OF AGE, THAT'S DUCHENNE, BUT NOT MUSCULAR DYSTROPHY. SO IT IS A NICE PRESENTATION BUT SCARED ME WHEN CONFRONT WOULD THE DATA, THAT DATA IS PRESENTED LOOSELY: IT CAN REALLY HURT OTHER COMMUNITIES. OH, MY GOD I'M GOING TO DIE AT 37. I'M NOT ANGRY I'M JUST SAYING I'VE SAID THIS FOR THE LAST 15 YEARS. PEOPLE YOU'VE GOT TO GET OFF THIS MD EQUALS DUCHENNE T DOESN'T. YOU HAVE TO BE LITTLE MORE EXPLICIT. >> THANK YOU FOR YOUR COMMENT. REGARDING THE PREVALENCE FOR FSH D THAT CAME FROM A WORLDWIDE, WELL I SHOULD SAY ASSISTED SYMPTOMATIC REVIEW THAT LOOKED AT ALL STUDIES. ONE OF THE THINGS I DINOT SAY AND I SHOULD HAVE SAID IS THERE IS A REALLY A LACK OF STUDIES ON THE PREVALENCE OF OTHER MUSCULAR DYSTROPHIES AND THAT'S WHERE I THINK WHEN WE LOOKED AT THIS ON MD SKY NET WE REALLY WANT TO LOOK AT THE PREVALENCE IN THE U.S. AND ALSO WE HAVE TO BE CAREFUL ABOUT HOW WE PHRASE WHAT WE FINDS BECAUSE WE ARE GOING TO BE ABLE TO LOOK AT TREATED PREVALENCE, SO PEOPLE WHO ARE COMING TO NEUROMUSCULAR CLINICS WITHIN THE SKY NET SITES, IF THERE ARE PEOPLE THAT ARE SAY, MORE MILDLY AFFECTED OR THEY ARE SEEKING TREATMENTS AT PRIVATE NEUROLOGY OFFICES PEOPLE CAPTURE THOSE AND SO WE NEED TO BE MIND FUL OF THAT FACT WHEN WE DO REPORT PREVALENCE WITH MUSCULAR DYSTROPHY DATA. NUMBER ONE THERE IS A LACK OF STUDIES AND I THINK WE'RE TRYING TO ADDRESS THAT BUT WE DO HAVE TO BE MINDFUL OF THAT BECAUSE AS YOU CAN SEE FROM MITONIC DYSTROPHY THERE WAS THAT STUDY BY NICK JOHNSONS GROUP WHERE THEY LOOKED AT THE BLOOD SPOTS AND FOUND A MUCH HIGHER PREVALENCE IN BLOOD SPOTS THEN FOUND BEFORE WHEN YOU LOOK AT THE TREATED POPULATION AND SO I THINK IT MAY BE SOMETHING THAT HAPPENS IN THE FSHD POPULATION AS WELL AS WHERE THE PREVALENCE IS HIGHER THAN ANTICIPATED, WE WOULDN'T KNOW UNTIL WE DO SOMETHING. >> DAN: I'M JUST SAYING THE GOLD STANDARD FOR MUSCULAR DYSTROPHY AND DUCHENNE ARE DIFFERENT. ONE AND 8,000 NOT AND BE 25,000. I DON'T WANT TO GET INTO IT BUT THE MAIN CONCERN IS THAT THE TITLE MD AND YOU THINK NEED TO SAY DUCHENNE. >> RIGHT AND THEN MORTALITY STUD IES ARE REALLY LOOKED AT ALL OF THE MUSCULAR DYSTROPHIES, THE PROBLEM WITH THOSE HAS BEEN AND I THINK WHAT WILL HELP GNAT PAST THERE REALLY HAVE BEEN, WE HAVE THESE MUSCULAR DYSTROPHIES ICD CODES WHERE ALL OF THE PEOPLE THAT HAVE ALL OF THE MUSCULAR DYSTROPHIES ARE THROWN INTO THEM AND SO THAT'S WHY WE SEE THESE DIFFERENCES, THIS TRIMODAL DISTRIBUTION OF MORTALITY BECAUSE IT IS NOT JUST DUCHENNE IT IS ALSO FSHD, MITONIC, IT IS ALSO DIFFERENT MUSCULAR DYSTROPHIES AND I THINK WHAT WOULD BE HELPFUL IN FEATURING OUR MORTALITY STUDIES IS NOW WE HAVE ICD CODES FOR SPECIFIC FOR FSHD, WE HAVE ONE SPECIFIC FOR MITONIC AND DUCHENNE AND SO AT LEAST FOR THOSE THREE AND PERHAPS IN THE FUTURE IF THERE ARE OTHER DYSTROPHIES THAT GET MORE SPECIFIC CODES WE WILL BE ABLE TO GET BETTER INFORMATION ABOUT MORTALITY MORE SPECIFIC MUSCULAR DYSTROPHIES BUT AT THE TIME ALL OF THE MUSCULAR DYSTROPHIES WERE ROLLED TOGETHER AND SO, YOU KNOW, THOSE STUDIES REALLY PERTAIN ACROSS THE MUSCULAR DYSTROPHIES AND NOT JUST ONE TYPE. >> DAN: JUST ANOTHER QUESTION NOW. THE ACQUISITION SITE IS IN NEW YORK, SO ARE YOU NOT ACQUISITION ING NEW YORK? >> NO, NEW YORK CITY IS NOT A PART OF IT. IT IS ROCHESTER, SYRACUSE, BUFF ROW, THOSE AREAS. THOSE AREAS IN NEW YORK. >> DAN: MY NEXT LOGICAL QUESTION IS FOR THEGENTIALLY ETHNIC COMPOSITION IN ROCHESTER. IS THAT WHY YOU'RE SHOWING CAUCASIAN FOR THE LESSER POP ULATIONISM. >> THAT'S WHY WE'VE TRIED TO GET OTHER SITES ON BOARD THAT HAVE LARGER MINORITY POPULATIONS SUCH AS NORTH CAROLINA, SOUTH CAROLINA. WE HAVE GEORGIA ABOUT 10 YEARS A GO AS WELL TO TRY TO HAVE A BETTER REPRESENTATION FOR A MINORITY POPULATION. >> DAN: THANK YOU. >> THANKS, DAN. >> NATALIE THERE IS A QUESTION FROM HEATHER WATKINSES. >> HI NATALIE. >> THANK YOU SO MUCH FOR YOUR PRESENTATION. I DO HAVE ONE SMALL SUGGESTION. I NOTICED THAT IN THE WORDING IT KEPT SAYING BLACKS AND I WONDER ED WHY IT DIDN'T SAY BLACK PERSONS OR PEOPLE BECAUSE YOU'RE OUTSIDE OF THE COMMUNITY NIGHT SEEM SMALL, IF YOU'RE INSIDE THE BLACK COMMUNITY THAT'S PRETTY GLARING. AS I WAS READING ON THE SCREEN I KEPT NOTING WHY IT SAID BLACKS. JUST A SMALL SUGGESTION. >> THANK YOU FOR THAT SUGGESTION >> YEAH, NO PROBLEM. >> I THINK THAT'S ALWAYS GOOD TO HEAR IF THERE IS A WAY THAT SOMETHING CAN BE WORDED BETTER. SO THANK YOU AND I APOLOGIZE FOR THAT. >> NO, PROBLEM. THANK YOU. >> DR. BIANCHI: OKAY. SO WE'RE GOING TO MOVE ON. THANK YOU VERY MUCH NATALIE FOR YOUR PRESENTATION. AT OUR MEETINGS WE OFTEN THE VITE PRESENTERS FROM DIFFERENT PERSPECTIVES SO WE CAN LEARN FROM THEIR SUCCESS STORIES. REMEMBER AT THE BEGINNING I MENTIONED LESSONS LEARNED SO OUR NEXT PRESENTER AS GLENN SAID IS GOING TO BE PRESENTING BY VIDEO IS AYE WILFREDO DE JESUS ROJAS AND HE IS GOING TO TELL US ABOUT COMMUNITY ENGAGEMENT AND RESEARCH ON RARE PEDIATRIC AMONG DISEASES. SO IF WE COULD ROLL UP THE VIDEO THANK YOU. >> HI EVERYONE. I'M DR. WILFREDO DE JESUS ROJAS IN PUERTO RICO AND THE MEDICAL DIRECTOR OF THE PEDIATRIC RARE LUNG DISEASES. TODAY I WILL BE TALKING COMMUNITY ENGAGEMENT IN TRANSLATIONAL RESEARCH: OUR EXPERIENCE IN PUERTO RICO STUDY ING PEDIATRIC RARE LUNG DISEASES. SO LET'S START. IN ORDER TO BE SUCCESSFUL COMMUNITY ENGAGEMENT WE SHOULD ADDRESS DIFFERENT IMPORTANT TOP ICS INCLUDING MEETING WITH STATE HOLDERS, COMMUNITY OUT REACH, DEVELOPMENT OF WEBINAR S AND CROSS 57 ALSO FOCUS ING AND EXPLORING WAYS WE CAN DEVELOP POLICIES TO CHANGE OUR COMMUNITY. MY FIRST EXPERIENCE WITH THE COMMUNITY ENGAGEMENT WAS BACK IN 2018 WHEN I DECIDED TO PUT TOGETHER A GROUP OF INTERESTED PEOPLE. PATIENT AND CARETAKERS IN A RARE CONDITION CALLED PRIMARY SCENERY DESTINATION. IN THIS GROUP WE MEET EVERY THREE MONTHS BY ZOOM MEETINGS. LATER WE STARTED TO STUDY ANOTHER RARE DISEASE CALLED HHD AND WE DEVELOPED A SPECIALIZED CLINIC FOR PATIENTS WITH THIS RARE CONDITION. WITH THE HELP OF THE HHD NETWORK WITH THIS SYNDROME IN THE UNITED STATES WE WERE ABLE TO HAVE A MEETING WITH PATIENTS WITH ANOTHER RARE DISEASES CALLED HDS AND THE SAME YEAR WE WERE ABLE TO START AN HDS CLINIC EVERY THREE MONTHS FOR THIS COMMUNITY. I HAD A PLEASURE TO MEET WITH MANY SCIENTISTS THAT TODAY ARE COLLABORATORS WITH ME AND ALSO I FOUND THAT THE NET WORKING OF PARTNERSHIPS WITH OTHER SCIENTISTS IS VITAL TO STUDYING RARE DISEASES IN PUERTO RICO. WE SHOULD NOT FORGET THAT OUR HOSPITAL IS ALSO PART OF OUR COMMUNITY AND NURSING AND RESPIRATORY THERAPIES CAN HELP US WITH THE IDENTIFICATION OF RARE DISEASES TO PROMOTE RESEARCH IMPROVINGMENT AND CLIN ICAL TRIALS. TEACHING THEM ABOUT RESEARCH IN RARE DISEASES IS IMPORTANT TOO. COLLABORATORS WITH LEADERS IN PEDIATRICS FROM THE LOCAL AND MAINLAND MEMBERS OF THE AFRICAN AMERICAN ACADEMY OF PEDIATRICS WAS CRITICAL TO IDENTIFY FUNDING , COLLABORATORS, RARE DISEASES ON THE ISLAND. BUT SOMETIMES WE HAVE TO SHOW PEOPLE WITH RARE DISEASES. ALSO, WE NEED TO INSPIRE THE IMAGINATION OF OUR CHILDREN OF FUTURE SCIENTISTS IN RARE DISEASES. CHILDREN HAVE A COOLISH MIND AND NO LIMITS THAT CAN EMBRACE OUR POPULATION AND COMMUNITY. DURING THE 2019 PANDEMIC WE IMPLEMENTED RARE DISEASES OVERALL. IN THIS SLIDE WE SPOKE ABOUT HHD AND THOSE WITH THE DIAGNOSIS AND MEDICAL CARE IN PUERTO RICO. WE USED PATIENT CONCERN AND IMPLEMENTED THE STRATEGIES TO HELP THEM WITH FEEDBACK AND PROVIDING INFORMATION RELATED TO THEIR CONCERNS. ANOTHER EXPERIENCE I HAD WAS WHEN I WAS INVITED TO BE PART OF AN INTERNATIONAL WEBINAR BETWEEN BRAZIL AND PUERTO RICO. THE GOAL OF THIS WEBINAR WAS TO UNDERSTAND COMMON COMPLAINTS PATIENTS HAVE IN DIFFERENT PLACE S AND DEVELOP NEW RESEARCH QUESTIONS INCLUDING THE WEBINAR THE PATIENTS HAD OPPORTUNITIES TO ASK QUESTIONS TO THE DOCTOR. AT THE END END OF THE WEBINAR I HAD MANY OF THE ANSWERS AND HELPED THEM WITH THEIR MEDICAL COMPLAINTS. THEN THE HELP OF BOTH THE MED ICAL AND RESEARCH STUDENTS SEVERAL WEBINARS HAVE BEEN TAKING PLACE ON OUR Facebook AND SOCIAL MEDIA PLATFORMS TEACH ING PEOPLE ABOUT THE RARE DISEASES LIKE CYSTIC FIBROSISIS AND OTHER RARE GENETIC DISEASES. DUE TO THE LACK OF INFORMATION ABOUT RARE DISEASES OVERALLQUAL DCD WE CREATED A QR CODE CARD WITH A LINKING FOR OUR PATIENTS. THIS QR CODE CARD COULD HELP OTHERS TO LEARN ABOUT PCD AND COULD SAVE A LIFE IN CASE OF EMERGENCY PROVIDING VITAL INFORMATION ABOUT THE PATIENT DISEASE MANAGEMENT. THIS IS THE WAY WE CAN EDUCATE OUR COMMUNITY AND EMPOWER PATIENTS WITH INFORMATION THEY NEED ABOUT RARE DISEASES. ALSO WE RUN 5Ks FOR PEOPLE WITH RARE DISEASES ON FEBRUARY 28 OF THIS YEAR. WITH THE HELP OF OTHER NON- PROFIT ORGANIZATIONS WE PRO MOTED THE RARE DISEASE WEEK IN PUERTO RICO TO CREATE AWARE NESS ABOUT RARE DISEASES AND BE AN APPLICANT FOR PATIENTS ISM WE ALSO REVIEWED THE POLICIES THAT ARE ACTUALLY IN PUERTO RICO FOR PATIENTS WITH RARE DISEASES AND PCD AND WE WERE ABLE TO INCLUDE THEM INTO THE CATASTROPHIC COVERAGE THAT WILL HELP THEM HAVING ADDITIONAL ACCESS TO HEALTH CARE WORKERS AND CLINICS IN ALL DISCIPLINES. WE ARE REACHING OUT TO THE ADVOCATES FOR OUR PATIENTS WITH RARE DISEASES AND PROMOTED EACH OF THESE TO IMPROVE THE DIAGNOSIS IN OUR PATIENTS. AND THANKS TO OUR INTERVENTIONS PATIENT PATIENTS ARE ALREADY COVER WOULD THE GOVERNMENT INSURANCE AS A RARE DOES HE SEE OF THE DIAGNOSIS THAT PROVIDES THEM FREE ACCESS TO MEDICINE AND ALSO TO SPECIALTY HEALTH CARE ACCESS. BUT ALSO WE HAVE THE POWER AND THE KNOWLEDGE TO PROVIDE MEDICAL STUDENT NEW TOOLS FOR RARE DISEASES AND UNDERSTANDING OF PATIENT NEEDS. WE ALSO TEACH THEM ABOUT MEDICAL PROVIDERS WITH PATIENTS WITH RARE DISEASES AND THEIR CARE TAKERSISM BUT WHAT WE ONLY DON'T TEACH THEM WE ALSO RECOGNIZE RARE DISEASES AS IMPORTANT CLASSIFICATION OF DISEASES AND SOME OF THE MEDICAL STUDENTS GETTING INVOLVED IN THE FUTURE AND DEVELOP COMMUNITY PROJECTS THAT EVENTUALLY PRESENT IN JOEL INTERNATIONAL CONFERENCES AND LOTS OF THEM PUBLISH THE RESULTS IN PEER REVIEW ARTICLES PRO MOTING RESEARCH IN MEDICAL SCHOOL. FOR PCD WE HAVE A SOCIAL PLAT FORM AND A NON-PROFIT ORGANIZATION WITH THE MISSION TO IMPROVE THE QUALITY OF LIFE OF PATIENTS WITH RARE DISEASES LIKE PRIMARY DISEASES IN PUERTO RICO LIKE ENGAGEMENT, RESEARCH AND SOCIAL SUPPORT WITH EACH PERSON IN THEIR LIVES. AS A MEDICAL DOCTOR AND A TRANSLATIONAL RESEARCHER THE UNDERSTANDING OF A RARE DISEASE SHOULD INVOLVE FROM BASIC SCIENCE TO PUBLIC HEALTH USING THE TRANSLATION APPROACH. IN THAT SENSE EXCLUSIVEMENT IS VITAL TO DEVELOPMENT MEANINGFUL QUESTIONS THAT COULD BE TRANSLATED INTO BENEFIT TO THE IMPACTED GROUP OF PEEP. IN MY EXPERIENCE WITH PCD WE WERE ABLE TO RECEIVE SUCCESS BECAUSE WE LISTENED TO OUR PATIENTS, WE ADDRESSED THEIR CONCERNS AND WE IMPLEMENTED CHANGES WITH A COMMON GOAL. A BETTER QUALITY OF HEALTH FOR MY PATIENTS. WE, THE PROVIDERS SHOULD BE THE PHYSICIAN, THE SCIENTISTS, THE NAVIGATOR FOR OUR PATIENTS. TO ACADEMICS CREATING SPECIAL IZED CLINICS AND CREATING IN THE PUBLIC HEALTH KNOWLEDGE WE HAVE THE POWER TO EMPOWER OUR COMMUNITY AND MODEL PATIENTS TO BE PART ON-GOING RESEARCH AND HELP US TO DEVELOP THE FUTURE SCIENTIFIC QUESTIONS TO ADDRESS. THIS IS THE ONLY WAY TOGETHER WE CAN ACHIEVE A MAJOR SHIFT IN OUR COMMUNITY. FINALLY, I HAVE BEEN BUSY DURING THE LAST YEAR PUNLISHING OUR FINDINGS FROM THE ISLAND, BUT WHEN I LOOK BACK INTO MY COMMUNITY AND I SEE THE CHANGES OUR WORK HAVE DONE, THE STRUCTURE OF A SUCCESSFUL COMMUNITY ENGAGED MAY BE HARD TO ACHIEVE BUT WHEN IT ESTABLISHES THE EMPOWERMENT, AND MOST SCIENCE FORWARD TOGETHER. AS I READ ONE TIME AND I SHARED EVERY DAY WITH MY PATIENTS WITH RARE DISEASES HOW LONG WE ARE HERE BUT TOGETHER WE ARE STRONG. LASTLY, I JUST WANT TO SAY THANK YOU FOR THIS OPPORTUNITY TO SHARE MY EXPERIENCE WITH YOU AND I HOPE MY JOURNEY WORKING WITH THE COMMUNITY AND RARE DISEASES PATIENTS IN PUERTO RICO IS IN SPIRING OTHER PHYSICIANS IN THE SAME WAY WE ARE INSPIRED. THANK YOU SO MUCH. >> DR. DID I KNOW: DR. BIANCHI: WE WOULD LIKE TO VIRTUALLY THANK DR. ROJAS BUT CENTS HE IS AVAILABLE ONLY BY E-MAIL WE'RE GOING TO SHOW HIS E-MAIL ADDRESS WHICH IS WILFREDO.DE WILFREDO.DEJESUS@UPR.EDU. SO WITH THAT WE ARE GOING TO TURN NOW TO THE INDUSTRY CAN CONTRIBUTE TO THIS TO IDENTIFY SPECIFIC STEPS TO FUNDING ORGANIZATIONS, RESEARCHERS AND ADVOCACY GROUPS TO ENHANCE RE CRUSEMENT OF UNDER-REPRESENTED MINORITIES AND TO LOWER THE SOC IO ECONOMIC BARRIERS TO PARTICIPATION AND RESEARCH. SO WITH THAT IN MIND WE'VE IN VITED JOAN DONOVAN TO PROVIDE COMMENTS. JOAN IS THE CHIEF MEDICAL OFFICER AT EDGEWISE THERAPEUTICS ENGAGED IN CLINICAL TRIALS IN MUSCULAR DYSTROPHY AND THE FORM ER CEO AT CATABASIS PHARMACEUTICALS. JOAN, WE WELCOME YOUR COMMENTS ON THIS TOPIC AND AGAININOUS SOMETHING, I REMEMBER AT THE BE GINNING I TOLD YOU DR. COLLINS REALLY INSISTED THAT THE INDUSTRY MANUFACTURERS OF VACCINES INCLUDE DIVERSE PARTICIPANTS IN THE CLINICAL TRIALS FOR SARS V2. >> THANK YOU VERY MUCH. I HAVE FOUND THIS VERY INTERESTING TO LISTEN TO FROM SUCH A DIVERSE GROUP OF CO-CONTRIBUTORS. MY BACKGROUND, AS YOU MENTIONED, IS IN DUCHENNE AND BECKER FOR THE LAST EIGHT YEARS IN TERMS OF LEADING CLINICAL TRIALS AND AS YOU CAN IMAGINE AN ENORMOUS PART OF THAT IS IN RECRUITING PATIENT S FOR CLINICAL TRIALS, WITHOUT THAT OF COURSE IT DOESN'T MOVE FORWARD, WE DON'T GET THE ANSWERS AND WE OWE AN ENORMOUS DEBT TO THE PATIENTS THAT DO PARTICIPATE IN THE STUD IES. I THINK THAT THE IN TERMS OF BASICALLY THE ROAD MAP TO INCLUDE A MORE DIVERSE POP ULATION IN THE CLINICAL TRIAL S I THOUGHT THAT THE FDA GUIDANCE ACTUALLY ON DIVERSITY WAS A ROAD MAP THAT SHOULD BE READ BY CLINICAL TRIALESTS NOT JUST IN RARE DISEASES BUT JUST IN GENERAL I THOUGHT THE POINTS MADE THERE WERE EXCELLENT. THERE WAS SOMETHING THAT THE INDUSTRY ADVOCACY GROUPS HAVE BEEN WORKING ON FOR SEVERAL YEARS BECAUSE IT IS KEY TO PARTICIPATION ACROSS THE BOARD IN CLINICAL TRIALS AND IN RARE DISEASES IT IS OF COURSE A BIT CHALLENGING. THINGS LIKE MAKING CLINICAL TRIAL PARTICIPATION LESS BURDEN SOME TO THE PARTICIPANTS, TO MAKING SURE THAT THEY ARE SUPPORTED WITH TRAVEL ALLOWANCES IT WAS STRIKING TO SEE IN MATTHEWS PAPER RECENTLY, AND IT WAS HONESTLY SURPRISING TO ME THAT THE FAMILY INCOME OF THOSE IN CLINICAL TRIALS WAS VIRTUALLY THE SAME AS THE FAMFLYCOME OF THOSE NON-CLINICAL TRIALS, WE WEREN'T SEEING THAT SELECTION THAT I WOULD HAVE ANTICIPATED IN KIND OF OBSERVING WHAT IS YOUR OCCUPATION. THERE ARE RECOMMENDATIONS IN THAT GUIDANCE FOR THINGS LIKE RE MOTE VISITS TO BE ABLE TO LECITHIN BURDEN OF COMING TO CLINICAL TRIAL CENTERS AND THAT REALLY SPEAKS TO THE GEOGRAPHIC AL DISTRIBUTION OF CLINICAL TRIAL SITES. IT IS SOMETHING THAT WE STRUGGLE WITH, IT IS, YOU KNOW, IN SOME WAYS THE MD STAR NET AREAS ACTUALLY ARE AREAS THAT ARE RICH IN CLINICAL VIOLATES OR DUCHENNE THEY ARE ALL, THEY HAVE I WOULD SAY YOU LACK FOR OTHER SITES SPIN OF THE BIG CITIES FOR EXAMPLE AND YOU DON'T HAVE THEM TO DRAW ON SO YOU'RE DRAWING ON THE SITES THAT ARE ALREADY DOING A LOT OF CLINICAL TRIALS. SO IT PROBABLY, I WOULD HYPOTHESIZE THAT THE DISPARITIES THERE ARE PROBABLY LESS BECAUSE OF THE GEOGRAPHICAL PROXIMITY TO CLINICAL TRIAL SITES IN THE GEOGRAPHICAL AREAS THAT ARE COVERED BY MD STAR NET AND WHEN YOU GET INTO AREAS OF THE UNITED STATES WHERE THERE ARE STATES THAT REALLY HAVE NEVER HAD CLIN ICAL TRIALS IT IS NOT SURPRISING THAT, I THINK THAT YOU WOULD EXPECT TO SEE MORE DISPARITIES IN TERMS OF REPRESENTATION. WHEN YOU LOOK AT THE MAP OF GEOGRAPHY OF CENTERS THAT HAVE BEEN NOTED AS KEY CLINICAL TRIAL SITES BY EFFICACY ORGANIZATION AND THEN YOU LOOK AT THAT MAP COMPARED TO THE POPULATION, THE CENSUS MAP OAF WHERE MINORITIES LIVE IN THE UNITED STATES THEY DON'T MATCH AND I TRULY THINK THAT IS A HUGE PART OF THE ISSUE I WENT BACK AND I LOOKED AT OUR RECRUITMENT ON A PHASE THREE STUDY AND YES, OF COURSE, THIS IS JUST PROPORTIONATE RECRUIT MENT IN CENTERS THAT ARE LOCATED WHERE MINORITIES ARE GEOGRAPHICICALLY LOCATED, THAT'S NO SURPRISE. THAT SOUNDS LIKE A SIMPLE PROBLEM TO SOLVE BUT UNFORTUNATELY PARTICULARLY IN RARE DISEASES IT IS NOT BECAUSE DEVELOPING NEW CENTERS OF EXCELLENCE ESSENTIALLY TO CONDUCT THESE CLINICAL TRIALS YOU NEED CENTERS THAT HAVE A NEUROMUSCULAR EXPERT AND THERE AREN'T THAT MANY IN THE UNITED STATES, THERE AREN'T AS MANY AS KED. >> THEY NEED TO HAVE EXPERIENCE IN CLINICAL TRIALS. AND THAT IS SOMETHING THAT IS DEVELOPED OVER TIME. AS I KNOW THAT'S SOMETHING THAT INDUSTRY WORKS ALSO WITH ADVOCACY. WE WOULD LOVE TO SEE OUTREACH TO ADDITIONAL CENTERS, ADDITIONAL CENTERS TO BE ABLE TO BE DEVELOP ED FOR CLINICAL, AS CLIN ICAL SITES TO BE ABLE TO ENROLL AND BROADEN THE REACH, WHICH BENEFIT EVERYONE BASICALLY SOME OF THE OTHER THINGS THAT WAS MENTION SAID WERE ALSO THINGS LIKE OUTREACH LIKE SOCIAL MEDIA, ALL OF THOSE THINGS THAT ARE IMPORTANT IN TERMS OF GETTING TO PATIENTS, GETTING TO THEM FAMILIES TO BE ABLE TO ENCOURAGE THEM TO REACH OUT FOR MORE INFORMATION. THERE IS STILL ALHUGE BARRIER TO GETTING TO SITES BASICALLY EVEN IF EVERYTHING IS SUPPORTED IT IS A HUGE DIFFERENCE IF THEY HAVE TO DIABETES HOURS ACROSS TEXAS RATHER THAN HAVE A SITE WITHIN A COUPLE HOURS CERTAINLY. WE TRY TO ENGAGE EARLY TO MAKE SURE THE WORD IS OUT EARLY. IT IS NEVER MENTIONED THAT HAVING SPANISH LANGUAGE WEBINARS AND TO REACH OUT MORE IS CERTAINLY IMPORTANT. AND I GUESS THE OTHER THING MENTIONED IN THE FDA GUIDANCE IS TO HAVE A RELATABLE EXTENSION. A BIG PART OF ANY CLINICAL DEVELOPMENT PROGRAM FOR DISEASES I THOUGHT ACTUALLY IT REALLY SUMMARIZED WELL KIND OF THE ROAD MAP FOR HOW TO APPROACH THIS AND I THINK THAT YOU KNOW THIS IS SOMETHING THAT INDUSTRY IS TRYING TO DO AND I MEAN IN FAIR NESS IT IS NOT ENTIRELY AL CHEWISTIC WHAT WE'RE TRYING TO DO IS HELP PATIENTS MORE EFFICIENTLY THROUGH THE STUDY AND THAT INCLUDES THE BROAD REACH OF PATIENTS IN DIVERSITY. I'LL STOP THERE. >> THANK YOU VERY MUCH. QUESTION S FOR JOAN. >> DAN: I'M THE ONLY ONE ASKING QUESTIONS TODAY. I DO HAVE HAVE A QUESTION. ONE THING THAT I'M STRUGGLING WITH IS IN OUR DISEASES IN THE MUSCULAR DYSTROPHY DISEASE WE'RE STILL SEEKING CLARITY ON GENOME TYPES. IN DUCHENNE, FOR EXAMPLE, YOU WOULD HAVE ALL OF THE MUTATION, DRUGS, ONE DRUG IS NOT WORKING IN ONE CASE AND NOT THE OTHER CASE IN TERMS OF THE MUTATION. FSHD I THINK IS VERY COMPLICATED GENETIC TRANSCRIPTIONAL DISEASE SO I COULD IMAGINE WE'RE GOING TO NEED TO NARROW DOWN VERY CAREFULLY THE GENETICS POP ULATION. THE ONE THING I'M STRUGGLING WITH IS THE NEED TO HAVE A DI VERSE AND INCLUSIVE TRIAL. WE'RE TALKING ABOUT DIVERSITY ON INCLUSIVITY, IN TERMS OF LACKS BLACKS, HISPANICS, ASIAN, INDIAN , WE'RE NOT TALKING ABOUT WHERE WE'RE AT ON THE STATUS OF KNOWING THE GENETICS OF EACH TYPES OF OUR OWN DIST DIST RUFY DYSTROPHY. SO THE NEED TO APPEASE WITH A VACCINE OR A DRUG THAT WE USE VERY WIDELY ISN'T A RARE DISEASE , A ONE BASE TERROR MIGHT NEED ONE OR THE OTHER. I STRUGGLE WITH WHY WE'RE HAVING THE DISCUSSION WHEN WE COULD BE HAVING THE OTHER DISCUSSION AND I'M JUST CURIOUS IF YOU HAVE ANY SPECKS IN YOUR INDUSTRY. >> SO I THINK THAT IN MOST FORMS OF MUSCULAR DYSTROPHY THERE ARE OR IN DUCHENNE CERTAINLY THERE IS THE ATTEMPT TO DEVELOP THERAPIES THAT ARE SOME OF THEM ARE, A GROUP OF STUDIES THAT ARE MUTATION-SPECIFIC AND THEREFORE THAT INFORMATION IS A SPECIFIC MUTATION EVOLVES IN TERMS OF THE DISEASE PROGRESSION IS IMPORTANT THERE IS ALSO A GROUP OF THERAPIES INCLUDING THE GENE THERAPY AND NON-GENE THERAPIES THAT ARE FOCUSED, THAT ARE NOT FOCUSED ON A PARTICULAR MUTATION BUT ARE LOOKING AT THE BROADER GROUP SO I THINK THAT AS AN INDUSTRY WE'RE LOOKING AT BOTH OF THOSE GROUPS AND THERE ARE EFFORTS TO UNDERSTAND, FOR EXAMPLE, THE EFFECT OF DIFFERENT GENETIC MUTATION WITH A COUPLE INDUSTRY CONSORTIUM COLLABORATIVE TRAJECTORY ANALYSIS AND ALSO CPAP THAT IS TRYING TO EXAMINE THOSE QUESTION THROUGH THE ACADEMIC SITES AND TRIALS. TO ANSWER THAT QUESTION I KNOW THAT'S GOING ON IN DUCHENNE. I KNOW LESS ABOUT OTHER FORMS OF MUSCULAR DYSTROPHY AND UNDERSTAND THE GENOME. DOES THAT ANSWER YOUR QUESTION? >> IT DOES. WE HAVE A DIVERSE AND INCLUSIVE TRIAL. IS THERE A SCIENTIFIC PRO GRESSION BEHIND IT OR MEDICAL A DISEASE COULD HAVE DIFFERENT EFFECTS WE HAVE A LOT OF GENETIC S ACROSS SO I'M JUST WOND ERING IN TERMS OF ACTUALLY, THE DISCUSSION JUST SEEMS TO BE VERY NEW AND VERY KIND OF REACTIONARY AT TIMES AND WE'RE TRYING TO FDA SAYS YOU NEED TO HAVE AN INCLUSIVE POPULATION AND RARE DISEASES ARE NOW TRYING TO GENERATE SOME DATA JUST AS THEY HAVE DIVERSE INCLUSIVE POP ULATION. THE GENETIC MIGHT BE MORE IMPORTANT. >> I THINK THAT AT LEAST FOR DUCHENNE THERE TENDS TO BE LESS OF A DIFFERENCE IN DIFFERENT POP ULATIONS BECAUSE SO MANY MUTATIONS ARE FIRST TIME MUTATIONS BASICALLY. WHILE FAMILIO ABOUT A THIRD ARE FROM THE ACTUAL MUTATION. SO MAY BE A LESS OF A DEMOGRAPHICAL. BUT I DO THINK THAT THE COMPANIES THAT ARE INVOLVED IN RARE DISEASE RESEARCH HAVE BEEN AND ARE TRYING TO REACH OUT FOR MANY REASONS, FOR THE FDA HAS BEEN VERY SUPPORTIVE BUT ALSO JUST IN TERMS OF ENROLLING THE STUDIES AND REACHING OUT FOR THAT POINT OF VIEW AS WELL. SO I THINK IT IS COMING FROM MULTIPLE PLACES, I DON'T THINK IT IS ALL COMING, YOU KNOW FROM THE FDA SAYS YOU MUST DO THIS, IT IS A MUCH BROADER INITIATIVE. >> THAT IS A PHENOMENAL INSIGHT THAT DUCHENNE IS RANDOM THAN THE OTHER DYSTROPHIES HAVE SOME SORT OF FAMILIAR CLUSTERS. THANK YOU. IF YOU HAVE A QUESTION PLEASE FEEL FREE TO RAISE YOUR HAND. WE CAN SEE YOU IN THE GALLERY VIEW IF YOU RAISE YOUR HAND OR ALTERNATIVELY YOU CAN WRITE QUESTION OR COMMENT IN THE CHAT BOX AND WE WILL RECOGNIZE YOU. ANY ADDITIONAL QUESTIONS OR COMMENTS BASED ON JOAN'S COMMENTS. OKAY. SO WE DO HAVE ONE MORE SPEAKER AND YOU'VE HEARD HER NAME MENTIONED SEVERAL TIMES. WE'VE INVITED MATHULA, WHO IS AN ASSISTANT PROFESSOR AT THE DEPARTMENT OF NEUROLOGY AND VIRGINIA OF COMMONWEALTH UNIVERSITY TO TELL US ABOUT HER EXPERIENCES AND IMPROVEMENT. SHE'S HAD REMARKABLE SUCCESS AND COHORTS FOR HER STUDIES IN DUCHENNE AND WE WANTED TO LEARN HOW SHE ACHIEVED THIS. SO MATHULA. ARE YOU -- I DON'T SEE YOU. LET'S GO BACK. THERE YOU ARE. THANK YOU FOR JOINING US. >> ABSOLUTELY. THANK YOU DR. BIANCHI. I WANT TO GIVE A SPECIAL SHOUT OUT TO DR. NUCKOLLS. IT IS NOT EVERY DAY I GET AN E-MAIL FROM HIM AND I JUMPED AT THE OPPORTUNITY. AND I ALSO WANT TO THANK YOU FOR YOUR COMMENTS ABOUT MY CONTRIBUTION TO DUCHENNE. AND I WANT TO INCLUDE SEVERAL THINGS THAT I THINK OTHER PANELISTS HAVE MENTIONED, ONE BEING THAT I'M EXTREMELY PLEASED TO BE HERE AND SHARE MY EXPERIENCE BOTH AS A CLINICIAN AND A SCIENTIST AND ALSO AS A RESEARCHER INTERESTED IN DUCHENNE. AND A SPECIAL SHOUTOUT TO ALL OF THE INDIVIDUALS AFFECTED. I KNOW SEVERAL PEOPLE HAVE MENTIONED THAT THIS RARELY IS A DIAGNOSTIC ODDACY. I KNOW A FEW YEARS AGO PHYSICIAN S DIDN'T RECOGNIZE WHAT DUCHENNE IS AND UNFORTUNATELY EVEN NOW WE HAVE THESE STORIES ANECDOTALLY FROM PARENTS THAT STRUGGLE FOR TWO TO THREE YEARS TO FIND AN ANSWER, THAT JUST TELLS US THE AMAZING WORK WE HAVE AHEAD OF US. I ALSO WANT TO THANK ALL OF THE FAMILIES AND PARTICIPANTS FOR REALLY CONTRIBUTING TO OUR RESEARCH. I THINK IT REALLY BRINGS MY WORK INTO FOCUS THAT THIS IS REALLY A TEAM EFFORT AND SEVERAL FAMILIES ALWAYS SACRIFICE A LOT TO COME TO OUR SITE FOR CLINICAL TRIALS ISM SO ONE OF THE THINGS THAT SOMEONE MENTIONED WAS THAT SOMETIMES RESEARCHERS BRING AN IMPLICIT BIAS AS TO WHETHER THEY CAN EVEN RECRUIT SOME PARTICIPANTS AND ONE OF THE STRATEGIES THAT I AND OUR CLINIC HAVE TAKEN IS THAT WE DEVELOPED A CHECKLIST SO OUR CLINICAL RECRUITMENT HAPPENS PREDOMINANT LY IN A CLINICAL SETTING SO EVERY TIME WE WOULD SEE A PATIENT EVEN PRIOR TO THE VISIT WE HAVE A CHECKLIST SO WE KNOW THAT THERE ARE SOME STUDIES WHERE THEY WOULD BE ELIGIBLE FOR SO THERE IS NOT EVE AN QUESTION THAT WHEN THEY COME IN WHETHER WE WOULD CHOOSE TO PROPOSE THAT THEY PARTICIPATE IN THE STUDY SO WE DON'T BRING ANY ASSUMPTIONS WHETHER THEY ARE INTERESTED OR ELIGIBLE BUT REALLY AS MORE OF A PARTNER AND SAYING THESE ARE ALL OF THE TRIALS AVAILABLE TO YOU, ALL OF THE STUDIES THAT ARE AVAILABLE, HOW CAN I REALLY HELP YOU LEARN A LITTLE BIT MORE ABOUT THEM. AND I THINK THAT HAS REALLY HELPED US TREMENDOUSLY BECAUSE SOMETIMES WE FIND THAT SOME FAMILIES HAVE, REALLY HAVE VERY GOOD ACCESS TO INFORMATION BE IT ON SOCIAL MEDIA OR THROUGH FOCUS GROUP SO THEY COME VERY PREPARED TO A CLINIC WHEREAS OTHER FAMILIES DON'T, I THINK IF WE REMEMBER THAT HEALTH IN THE UNITED STATES CAN BE NOT WHERE WE WANT IT TO BE THEM ACCESSING CLINICAL TRIALS TO FIND OUT TRIALS CAN BE VERY LIMITED SO I THINK I VIEW MY ROLL AS REALLY BEING A PARTNER SO I PREPARE THAT INFORMATION AND GO TO A CLINIC FOR THE TRIALS AND REALLY UP TO YOU TO MAKE THE DECISION, WHICH WOULD BE HELPFUL. THE OTHER THING THAT WE HAVE USED IS SPANISH CONSENT. SO A PERMIT CONSENT FOR LIMITED ENGLISH PRO PROFESSIONS. AND THAT HAS BEEN VERYFUL. WE ARE LUCKY IN THAT WE DO HAVE AN IN-PERSON SPANISH TRANSLATOR ESPECIALLY SO WE'VE USED THEM IN THE CLINIC TO PRESENT OUR INFORMATION TO OUR TRIAL PARTICIPANTS. THE OTHER METHOD I REALLY HAVE FOUND VERY USEFUL, ONE OF MY RESEARCH INTEREST IS REALLY BRAIN DEVELOPMENT IN DUCHENNE MUSCULAR DYSTROPHY IS TO REALLY USE THE TOOLS THAT IN OUR AGE SELF AS PROPOSED SO IN THAT REGARD WE'RE REALLY LOOKING FOR A TOOL THAT IS ACCESSIBLE TO EVERYONE AND WHICH DOESN'T HAVE PROPRIETY INFORMATION AND VERY SUCCESSFUL IN USING THE NIH TOOL BOX. ONE OF THE GOOD THINGS ABOUT IT IS NOT ONLY COMES IN ENGLISH AND SPANISH BUT I KNOW THAT MY COLLEAGUES AT NORTHWESTERN HAVE BEEN WORKING ON THE APP TO MAKE IT ACCESSIBLE IN SEVERAL EUROPEAN LANGUAGES SO I THINK THAT'S VERY HELPFUL. SO WE ARE IN THE PROCESS OF TAKING THIS TO TRY TO WORK WITH OUR EUROPEAN COLLEAGUES TO EX TEND OUR STUDIES IN EUROPE AS WELL. SO FOR ME I THINK THE FACT THAT THERE ARE SO FEW RESEARCHERS INTERESTED IN BRAIN DEVELOPMENT AND THE FACT THAT PEOPLE USE SEVERAL OTHER OUTCOMES THAT THERE IS NO COMMON CURRENCY AND THAT IS MAKES IT DEFENDANT TO MAKE INFERENCES I THINK HAS REALLY PROMPTED ME IN MY RESEARCH EFFORTS TO USE A TOOL WHICH IS VERY ACCESSIBLE AND THE FACT THAT IT IS REALLY FREE, ONLY COSTS $500 FOR A SMALL LICENSE. THE OTHER THING I WANT TO SHARE IS I KNOW HEATHER WATKINS MADE THIS REMARK ABOUT INTERGENERATIONAL ASSESSMENT. ONE OF THE THINGS WE HAVE BEEN DOING, WHICH HAS NOT BEEN THAT VERY WELL STUDIED IN DUCHENNE IS WOMEN MUTATIONS DOOR REPORT SOME COGNITIVE CHALLENGES. SO WHAT WE ARE REALLY INTERESTED IN STUDYING IS IF THERE IS A BOY EFFECT WOULD DUCHENNE IF WE WERE TO STUDY THEIR MOM IS THERE A DIFFERENCE BETWEEN A MOM CARRIES THE MUTATION VERSE AS MOM WHO DOESN'T CARRY THE MUTATION. SO WE ARE INTERESTEDINIC LOOK AT INTERGENERATIONALS BECAUSE THERE IS SOME DATA THAT SHOWS THERE IS IMPRINTING COGNITIVE ABILITIES, WHICH IS REALLY TRANSFER TRANSFERRED FROM MOTHERS TO THE AFFECTED CHILD. SO THAT'S ONE THING. WHAT ARE THE HURDLES? I THINK BIGGEST CHALLENGE FOR US IS REIMBURSEMENT. I THINK FAMILIES ARE WILLING TO TRIVE. WE HAVE A FAMILY WHO DROVE FROM MICHIGAN TO OUR SITE FOR A STUDY VISIT; BUT I THINK EVEN THOUGH WE COMPENSATE THEM WE FIND A HOTEL, WE WOULD BARE ALL OF THE COSTS FOR THE MEALS I THINK THE BIGGEST CHALLENGE IS FOR PARENTS TO TAKE TIME OFF OF WORK AND WE ARE NOT ABLE TO REIMBURSE THAT LOSS OF PRODUCTIVITY I FIND THAT HARD AND I SOMETIMES WE ARE WORK ING WITH LIMITED RESOURCES. SO I DON'T HAVE AN ANSWER BUT REALLY I THINK THAT'S WHY, WHEN I GIVE A SHOUTOUT TO THE PARTICIPANTS OF THE FAMILIES I REALLY DO THINK THAT THEY ARE MAKING A BIG SACRIFICE AND I'M VERY APPRECIATIVE OF THAT. I ALSO WANT TO THANK DR. ROJAS FOR THAT COMMENT ABOUT THE QR CODE BECAUSE I THINK THAT WOULD BE A VERY SIMPLE WAY AND SOMETHING WE CAN CREATE IN OUR CLINIC TO HAND OVER TO OUR FAMILIES BECAUSE I THINK THAT'S A VERY EASY WAY FOR THEM TO TAKE IT TO THEIR PRIMARY CARE PHYSICIAN OR A PHYSICIAN THAT MAY NOT KNOW, MAY NOT BE AS IN FORMED ABOUT THESE RARE DISEASES. YEAH. I THINK THAT'S ABOUT WHAT I HAD. AND THEN I THINK WE HAVE ALSO HAD TREMENDOUS SUCCESS WITH OUR IMPROVEMENT BY WORKING WITH OUR PATIENT ADVOCACY GROUP SO I WANT TO SAY THANK YOU TO BOTH MDCC AND SUPPORTING EFFORT. THANK YOU. >> THANK YOU VERY MUCH FOR SHARING YOUR THOUGHTS AND YOUR SUCCESS IN RECRUITING DIVERSE POPULATIONS. QUESTIONS FOR MATHULA? AGAIN, RAISE YOUR HAND? DR. NUCKOLLS HAS HIS HAND UP. >> THANKS FOR YOUR COMMENTS. YOU KNOW, I THINK YOUR POINT OUT THE OBSTACLES OF PARTICIPATION IF A PATIENT WERE A PARENT YOU KNOW CAN'T TAKE OFF WORK, THAT'S A BIG OBSTACLE. ARE THERE ANY WAYS AROUND THAT AND ONE WAY COULD BE TO TO ALLOW THEIR PARTICIPATION OUTSIDE OF NORMAL WORK HOURS, WHICH YOU KNOW NUTS BURDEN ON THE CLINICAL STAFF IF THEY NEED TO BE THERE ON THE WEEKEND OR IN THE EVENING OR SOMETHING LIKE THAT BUT IS THAT POSSIBLE, IS THAT, IT COULD ADD MORE COSTS TO A STUDY BUT IS THAT A FEASIBLE WAY TO HELP OVER COME THAT SIGNIFICANT OBSTACLE OF PEOPLE WHO CAN'T GET OFF WORK. ABSOLUTELY. I THINK TO SOME EXTENT IT DEPENDS ON THE STUDY AND THE INSTITUTION. WE DO HAVE AN IMAGING STUDY WHERE THE UNIVERSITY IS OPEN ON SATURDAYS SO THE PARENTS ARE ABLE TO COME IN ANYWHERE BETWEEN 8:00 TO 12:00. I THINK IF THERE IS AN INDUSTRY RESPONSE STUDY IN WHICH YOU HAVE A PARTICULAR DRUG THEN I THINK THAT BECOMES A LITTLE BIT HARDER LIKE I SAID I DON'T HAVE ALL OF THE SOLUTIONS BUT CERTAINLY I THINK THE FACT THAT THERE ARE SOME VISITS THAT CAN BE REMOTE OR PEOPLE CAN LIKE SEND VIDEO CLIPS AND THINGS LIKE THAT, YES, BUT I THINK THE BIGGER QUESTION OF COURSE IS I KNOW FDA IS VERY FORWARD THINKING ABOUT HOW CAN WE INCORPORATE TECH 58 ADVANCES INTO THE DRUG APPROVAL THAT WAY AND I THINK THIS IS A DISCUSSION THAT'S GOING TO EVOLVE BUT I THINK TO YOUR POINT, GLENN, I THINK THERE ARE SEVERAL OPPORTUNITIES BUT I THINK IT REALLY DEPENDS ON THE STUDY AND THE OUTCOMES THAT I WARD. ONE OF THE THINGS THAT THE PANDEMIC HAS TAUGHT US IS TELE HEALTH WORKS REMARKABLY WELL AND IN THE INCLUDE INITIATIVE, WHICH INVOLVES PEOPLE WITH DOWN SYNDROME, INVESTIGATING CO OCCURRING CONDITIONS ACROSS THE LIFESPAN TO UNDERSTAND DOWN SYNDROME WE'VE HEARD FROM FAMILIES THAT THEY REALLY APPRECIATE THE OPPORTUNITY TO PARTICIPATE. ESPECIALLY WHEN TALKING ABOUT A CHILD WITH PHYSICAL DISABILITIES MAY BE WE WOULD LEARN FROM THE PANDEMIC TO CONDUCT THESE STUD IES. IF IT INVOLVES MUTATION OF A DRUG OR SOMETHING LIKE THAT YOU CAN'T DO IT BUT YOU CAN CERTAINLY FOLLOW-UP. AGAIN MY CONCERN IS I THINK NOT ALL FAMILIES HAVE EQUITABLE ACCESS TO A LAPTOP OR HIGH-SPEED INTERNET AND I THINK HOW CAN WE REACH THOSE COMMUNITIES, I THINK THAT WE STILL NEED TO FIND ANSWER. >> THERE IS NOT MUCH DIFFERENCES ACCORDING TO RACE AND SOCIO ECONOMIC STATUS WITH REGARDS TO SMARTPHONES SO AGAIN WAYS TO GET AROUND THIS. JOAN WERE YOU RAISING YOUR HAND OR WAVING? >> I WAS SAYING THAT I THINK WE WOULD LOVE TO USE MORE OF THOSE IN TERMS OF REMOTE. THERE ARE THE COVID HAS ALSO CREATED BARRIERS THERE IN TERMS OF HAVING THE EXPERIENCE PERSONNEL TO DRAW BLOOD REMOTELY AND HAVING THE SITES APPROPRIATE LY OVER WHICH THEY HAVE NO CONTROL AND THAT CAN GET AWKWARD, BUT THERE ISN'T. SO THAT KIND OF NEEDS TO BE MORE OF A CROSS INDUSTRY, HOW DO YOU GET A SYSTEM TO BE ABLE TO GO OUT REMOTELY AND SMALL OF THESE PROBLEMS WITH GEOGRAPHY. I THINK IF PATIENTS HAVE TO COME EVERY SIX MONTHS OR FAMILIES HAVE TO INTEGRATE THEM THAT'S A VERY DIFFERENT BURDEN THAN HAVING TO COME EVERY, YOU KNOW, EVERY MONTH OR TWO OR IN THE CASE OF SOME THERAPIES EVERY WEEK WHERE IT IS JUST NOT FEASIBLE. I DON'T, MATHULA YOU BROUGHT UP IN TURNS OF REIMBURSEMENT, IT IS , THOUGH WE'VE TALKED ABOUT IT AT ADVOCACY MEETINGS AND THOUGH IT IS A HARD THING TO ADDRESS BECAUSE IT BECOMES UNFAIR EVEN IN OF ITSELF AND THE PEOPLE THAT NEED IT THE MOST GET THE LEAST. I DON'T KNOW HOW TO SOLVE THAT. >> DANNISM. I JUST WANTED TO SAY, IN SOCIETY I DECIDED OR WE DECIDED THAT WE WOULD COVER THE COST OF TRANSPORTATION OF THE PATIENTS UP TO $2,000 FOR TRANSPORTATION TO GO GATE BIOPSY AND GET EVALUATED AND ABOUT 150 PATIENTS INTO THE STUDY AND WHEN WE DEVELOPED OUR STUDY DID NOT SURVIVE WITH THE MONEY TO GET THE PATIENTS -- THAT'S THE ONE THING TO VOLUNTEER THAT YOU CAN DO, THEY CAN FINANCIALLY NEEDY OR NOT JUST SUBMIT FOR THE FUNDS I'VE SEEN THAT AGAIN AND AGAIN AND AGAIN OVER THE DECADES WHERE THE FAMILY, CHILD IS THERE OR THE CLINICAL STUDY IS THERE BUT THE PATIENT CAN JUST NOT AFFORD TO GET TO IT. AND NONE OF THE AGENCIES ARE WILLING TO COVER THE COST. # SOMETHING SUITABLE FOR THE INDUSTRIES CAN FACILITATE BECAUSE OF THE CONFLICT OF INTEREST. I WANT THE COMMITTEE TO KNOW THAT. THANKS. >> THANK YOU DAN. WE WOULD LIKE TO GIVE OTHER ADVOCACY GROUPS MEMBERS AN OPPORTUNITY TO COMMENT ON THIS TOPIC. AS DAN JUST MENTIONED THE ADVOCACY GROUP HELP PATIENTS TRAVEL TO PARTICIPATE IN THE STUDIES THEREFORE THAT REDUCES THE GEOGRAPHIC AND SOCIO ECONOMIC OBSTACLES, SAME THING IS TRUE FOR PARTICIPANTS IN NIH CLINICAL CENTERS AS WE CAN SUPPORT THEIR TRANSPORTATION AND COVID WHO PARTICIPATES IN THE NIH CLINICAL CENTER PROTOCOLS ALL OF THE CARE THEY RECEIVE IS FREE. ARE THERE ANY ADVOCACY GROUPS THAT WOULD LIKE TO MAKE A COMMENT OR CONTRIBUTE TO THE DISCUSSION NOW IS THE TIME? PLEASE RAISE YOUR HAND, MAKE AN INDICATION IN THE CHAT BOX. MAY BE IT IS GETTING LATE AND PEOPLE ARE GETTING A LITTLE BIT TIRED BUT YOU'RE CERTAINLY WELCOME TO SEND US AN E-MAIL AND LET US KNOW IF THERE ARE THINGS THAT YOU ARE DOING THAT COULD ADDRESS THE ISSUE AND COULD HELP US TO RECRUIT MORE DIVERSE PARTICIPANTS. I WAS JUST GOING TO CALL ON MY CO-INSTITUTE DIRECTORS FOR THEIR COMMENTS SO LET'S START. >> WE'VE BEEN, THE THING ABOUT THIS FOR A WHILE AND WITH THE HEEL INITIATIVE IN TERMS OF INTEGRATING RESEARCH WE HAVE SOME RESOURCES TO TRY THINGS AND WHAT HAS STRUCK ME MOST INTERESTINGLY IS THE POTENTIAL TO BRING PATIENTS AND PEOPLE WITH EXPERIENCE INTO THE TRIAL INFRASTRUCTURE AS KIND OF EQUALS TO THE INVESTIGATORS WITH THE ROLE OF BEING THE MASTER COMMUNICATORS WITH THE COMMUNIT IES THAT YOU KNOW YOU'RE TRYING TO REACH IN YOUR CLINICAL TRIALS. I THINK THAT, WE'VE SEEN THAT WORK IN A COUPLE SPACES ALREADY SO YOU CAN RECRUIT PEOPLE WHO COME FROM A DIVERSE BACKGROUND WHO HAVE THE CONDITION, POTENTIALLY THEY'VE ACTUALLY BEEN IN THE TRIAL OR YOU KNOW AS WE HEARD PEOPLE HAVE BEEN IN TRIALS BEFORE THEY COULD BE THE BEST COMMUNICATORS OF ALL AND I THINK THAT'S ONE WAY WE'RE THINK ING OF MOVINGISM-- MOVING. >> THANK YOU WALTER. LINDSEY? >> HI. FIRST OF ALL, I REALLY ENJOYED THE PRESENTATION THIS AFTERNOON AND APPRECIATE THE OPPORTUNITY TO LEARN MORE AND MORE ABOUT THIS GROUP OF DISEASES AND I THOUGHT THE FOCUS THIS AFTERNOON ON INCREASING DIVERSITY WAS VERY TIMELY AND INFORMATIVE AND IN SO MANY VALUABLE ISSUES WERE RAISED INCLUDING HOW DO WE REALLY UNDERSTAND WITH CONFIDENCE WHAT THE APPROPRIATE REPRESENTATION IS IN OUR STUDIES, IN MANY CONS ES WE DON'T FULLY UNDERSTAND WHAT THE TRUE PREVALENCE AND INCIDENTS ARE AND ALL SORT OF ASCERTAINMENT AND OTHER SORTS OF BIASES. DAN POINTED OUT THAT WE SHOULD ALSO BE THINKING ABOUT, IN ADDITION TO THE IMPORTANT CONSIDERATION OF EQUITY, ALSO JUST SCIENTIFICALLY WHAT CAN WE LEARN FROM STUDYING MORE DIVERSE PATIENT POPULATIONS OR HOW DO WE THINK ABOUT THAT IN TERMS OF PRECISION MEDICINE AND UNDERSTANDING VERY SPECIFIC SUB- GROUPS OF PATIENTS. I APPRECIATE THE COMMENTS ABOUT THE REALITIES OF THE CHALLENGES ASSOCIATED WITH REACHING OUT TO CERTAIN POPULATIONS OF INDIVIDUALS. I HAVE BEEN HOPING THAT WE LEARN A LOT, ONE OF THE SILVER RYANING S OF THE PANDEMIC IS WE LEARN A LOT ABOUT HOW TO WORK IN A MORE REMOTE FUNCTION TO IDENTIFY AND ENROLL PARTICIPANTS IN THE CLINICAL TRIALS. I THINK A LOT OF PROGRESS IS BEING MADE ON FLAUNT GENERALLY, BUT, YOU KNOW, THERE IS STILL LOT MORE WORK TO BE DONE. I THINK THE COMMENT ABOUT THE VALUE OF THE SMARTPHONE IS BEING SOMETHING THAT IS MORE UNIVERSAL COMPARED TO OTHER RESOURCES AND TOOLS, THAT'S REALLY IMPORTANT. I WISH THAT THERE WERE M I HOPE THAT WE CAN IDENTIFY CREATIVE IDEAS AND WAYS TO THINK ABOUT REIMBURSING FROM LOST PRODUCTIVITY, THAT'S A HUGE BARRIER AND ONE THAT, YOU KNOW, IT IS NOT CLEAR TO ME THAT WE HAVE GREAT IDEAS AND CREATIVE SOLUTIONS FOR DEALING WITH THAT WHICH HAS A VERY UNEVEN IMPACT ON INDIVIDUALS. WALTER MAKES A REALLY GOOD POINT ABOUT THE IMPORTANCE OF ENGAGING PATIENTS EVERY STEP OF THE WAY ALONG THE PROCESS OF DESIGNING STUDIES, CONDUCTING STUDIES, PERFORMING OUTREACH, INTERPRET ING STUDIES SO I HOPE THAT WE CAN APPLY ALL OF THOSE VALUABLE LESSONS TO THE MUSCULAR DYSTROPHY. SO IT IS JUST A SAMPLING OF SOME OF MY REACTIONS THIS AFTERNOON. THIS HAS BEEN A REALLY RICH PRESENTATION AND I HOPE THAT FOLLOWING THE SESSIONS TODAY WE COULD ALL GIVE SOME THOUGHT TO, YOU KNOW, HOW WE CAN TAKE ADVANTAGE OF SOME OF THE GREAT IDEAS SHARED AND MAKE PROGRESS ON THIS AREA, ON THIS FRONT. >> DR. BIANCHI: THANK YOU SO MUCH. ONE OF THE THINGS THAT DIDN'T COME UP TODAY SO FAR, I DID ASK A QUESTION OF NATALIE, AND THIS ISSUE OF NOT BEING APPROACHED TO PARTICIPATE IN STUDIES OF IM PLICIT BIAS AND I HAVE TO CON FESS ONE OF THE REASONS I BROUGHT THAT UP WAS TWO OF MY NICHD COLLIES OF I HAVE A COMMENTARY THAT WILL BE PUBLISHED SOON IN THE PEDIATRICS WHERE WE WERE ASKED TO COMMENT ON A SECONDARY ANALYSIS ON AP PEDIATRIC CLINICAL TRIAL FOR ASTHMA AND BASICALLY COMPARING STANDARD CARE TO A DOSE OF STEROIDS. NOW MAY NOTICE THAT THERE WAS A RELATIVELY LOW POPULATION OF HISPANIC PEOPLE WHO HAD BEEN ENROLLED AND WHEN THEY WENT BACK AND BROKE IT DOWN THEY REALIZED THAT WHEN HISPANIC FAMILY WAS APPROACHED THEY AGREED TO PARTICIPATE IN THE STUDY THE SAME AS OTHER RACE OR ETHNIC POP ULATIONS, BUT THEY FOUND THAT THERE WAS A SIGNIFICANT PERCENT OF PEOPLE WITH HISPANIC BACKGROUND WHO WERE NEVER APPROACHED. SO THAT CERTAINLY IS AN AREA THAT IS UNDER OUR CONTROL AND IT DOESN'T COST ANYTHING. IT IS REALLY A MATTER OF RECOGNIZING THAT EVERYONE, NO MATTER WHAT THEIR BACKGROUND, DE SERVES A CHANCE TO PARTICIPATE IN A CLINICAL STUDY AND THAT'S WHAT I LIKED ON MATHULA'S APPROACH OF PREPARING AHEAD OF TIME A CHECKLIST OF WHAT ARE THE STUDIES FOR WHICH THESE PATIENTS CAN BE A PARTICIPANT AND THAT WAY YOU HAVE A UNIFORM APPROACH AND YOU ALSO HAVE DOCUMENTATION WHETHER THEY WERE APPROACHED OR NOT AND WHAT THEIR RESPONSE IS. SO THAT TO ME IS ONE EXCELLENT SOLUTION. THERE ARE A NUMBER OF COMMENTS IN THE CHATBOX FROM HEATHER WATKINSES. HEATHER, IF YOU'RE STILL ON THE LINE CAN YOU, JUST MENTION ABOUT THE STUDIES THAT YOU'VE PARTICIPATED IN AND HOW THAT'S BEEN DONE ON A REMOTE BASIS AND THEN WE'LL GO BACK TO MATHULA. I SEE YOUR HAND NOW. >> HEATHER WATKINS: SURE. SOME OF THE THINGS I'VE BEEN INVOLVED IN IS OUR STUDIES RE INVOLVING AROUND PCA-- PERSONAL CARE ASSISTANCE, AND OTHER HOME AND COMMUNITY-BASED SERVICES THAT WERE DONE WITH RESEARCHERS IN USING DIGITAL PLATFORMS VIRTUALLY. I'VE ALSO HAD OVER THE YEARS RESEARCHERS COME TO THE HOUSE. WITH A STUDY REVOLVING AROUND PARENTING AND MENTAL HEALTH. OTHER WAYS ARE SHORT SURVEYS, PHONE CALLS, E-MAILS, GOING TO THE CENTER TO HAVE MY BLOOD DRAWN BUT I'VE ALSO HAD MY BLOOD DRAWN IN-HOME BUT THAT WAS OUTSIDE OF A STUDY. I'M JUST THINKING OF DIFFERENT WAYS OF ENGAGEMENT, WHICH ARE VERY HELPFUL IF YOU ARE CONTEND ING WITH A DIFFERENT ASPECTS OF YOU KNOW SOCIO ECONOMICS AND THAT COULD BECOME A BARRIER AS WE'VE DISCUSSED CHILD CARE, TRANSPORTATION, NOT BEING ABLE TO TAKE TIME OFF OF WORK, ATTENDING TO CHILDCARE AND ELDERLY PARENTS AND YOUR OWN HEALTH CARE NEEDS BECAUSE PEOPLE TEND TO FORGET THAT DISABLED PERSONS ARE ALSO CAREGIVERS, MANY OF US ARE. AND THAT'S TRUE FOR MANY OF US IN COMMUNITIES OF COLOR. A LOT OF US ARE PULLING DOUBLE AND TROUBLE DUTY. MY BEDROOM IS OFTEN MY OFFICE COMMAND CENTER. I RUN BOARD MEETINGS FROM TOP OF MY BED AND ALSO THE WHOLE HOUSE, GROCERY DELIVERIES, MANAGING HEALTH CARE FAMILY FINANCES. SO THERE IS A LOT OF DIFFERENT THINGS THAT ARE HAPPENING AT ONCE, BUT ALSOM HAVE PEER RESEARCHERS BECAUSE THAT LANES LITTLE BIT OF EXPERIENCE CAN ALSO COVER THESE GAPS THAT PEOPLE ARE MISSING. THAT HAVE THAT ACADEMIC LENS AND ALSO TO HAVE, YOU KNOW, ADVOCACY LENS LINKING TOGETHER TO CREATE THAT BETTER CONNECTIVE TISSUE SO WE CAN GET MORE CONCRETE ANSWERS , ARE JUST SOME OF THE WAYS. OTHER OUTREACH METHODS ARE WORK ING WITH CENTERS FOR INDEPENDENT LIVING. STATE REHAB PROGRAMS. HERE WE HAVE THE MASS REHAB PROGRAM COMMISSION. AND THEN LIBRARIES, THERE IS FREE WI-FI THERE RIGHT. ALSO A LOT OF THINGS PEOPLE DON'T THINK ABOUT HOMELESS SHELT ERS EITHER. A LOT OF DISABLED PERSONS ARE IN HOMELESS SHELTERS, BUT THEY WORK ON A VERY TIME-BASED WAY, THEY HAVE TO, YOU KNOW, OBVIOUSLY BE INSIDE BY 6:00, BUT IF YOU EVER WATCH NEWS REPORT YOU SEE THE WHEELCHAIRS AND OTHER MOBILITY NEEDS LINED UP AND IT IS ESTIMATED I THINK LIKE 40% OF THE POPULATION OF HOMELESS PERSONS HAS DISABILITIES, NOT ONLY REMEMBER APPARENT BUT NON- APPARENT AND CHRONIC ILLNESS SO THOSE ARE JUST SOME IDEAS THAT WHERE PEOPLE CAN DO SOME OUTREACH. THAT MIGHT BE HELPFUL. >> DR. BIANCHI: MATHULA DO YOU REMEMBER WHAT YOU WERE GOING TO SAY AND THEN WE'LL GO TO DEBRA. >> MATHULA: YOU HAD MENTIONED ABOUT RECRUITING. ONE OF THE THINGS WE HAD A PARTICULAR CHALLENGE IN THE DISTRICT OF COLUMBIA WAS THAT WHEN THEY GOT A QT SICK THEY DID NOT GO TO THE PEDIATRICIAN, SO THEY WERE NOT ABLE TO BE RECRUIT ED INTO THE STUDY BECAUSE THEY USED SERVICES IN THE EMERGENCY ROOM AND THIS WAS PARTICULARLY TRUE FOR AFRICAN AMERICAN POPULESES.-- POPULATIONS. SO I THINK WHERE THEY UTILIZE THEIR HEALTH SERVICES MIGHT ALSO CONTRIBUTE TO SOME OF WHAT WE'RE SEEING, OF COURSE IT DOESN'T APPLY TO RARE DISEASES, ALTHOUGH I HOPE IT DOESN'T. AND THEN, I DO WANT TO SAY THANK YOU TO DR. HESTALE, WE DID GET FUNDED AND I DID E-MAIL HER, SHE WAS EXTREMELY RESPONSIVE THAT MD A WOULD CONSIDER FUNDS ESPECIALLY IN THE FORMS OF TRAVEL FOR FAMILIES, SO THANK YOU. >> DR. BIANCHI: THANK YOU. SO LET'S GO OVER TO DEBRA. >> DEBRA: YES, SO I KNOW THAT WHEN WE STARTED DOING TRANSLATIONS IN MANAGEMENT AND TRYING TO HELP WITH RECRUITMENT TO THE SPANISH-SPEAKING AUDIENCE ONE THING 3 ANOTHER AND IT REALLY STARTED SNOWBALLING IN TERMS OF NOT JUST PUTTING TRANSLATIONS OF OUR MATERIALS ON-LINE BUT ABSOLUTELY DEDICATED WEBINARS ADDRESSING THE SPANISH- SPEAKING COMMUNITY, THERE IS DEFINITELY A COST TO THAT AND I'M JUST WONDERING IF THERE ARE FUNDS, YOU KNOW, FOR SMALL ORGANIZATIONS THAT MAY BE AREN'T ABLE TO DO THAT. IF THERE ARE FUNDS AVAILABLE AND ADVOCACY ORGANIZATIONS COULD BE ENCOURAGED TO START AT LEAST TRANSLATING AND WORKING AT MORE OTHER LANGUAGE PROGRAMMING? DR. BIANCHI: I CAN VALIDATE THERE IS A COST INVOLVED. I MEAN, WHEN I WAS A PROFESSOR AT TUFFS MEDICAL SCHOOL, HEALTHIER NEVER MET YOU BUT OUR PATHS VERY SIMILAR AND OUR TRAVELS WITHIN BOSTON, IT WASN'T JUST SPANISH. TUFFS IS IN CHINATOWN BOSTON SO AN AVERAGE FIVE OR SEXT DIFFERENT ASIAN LANGUAGES AND YOU HAD TO TRANSLATE YOUR CONSENT FORM FROM ENGLISH TO LAY OTIANT LET'S SAY AND THEN A NATIVE SPEAKER HAD TO TRANSLATE IT BACK TO ENGLISH AND THEN THE IRV WOULD PREPARE THE TWO DOCUMENTS SO THAT TOOK TIME AND IT TOOK MONEY. WE DIDN'T HAVE A LUXURY OF HAVING IN-HOUSE INTERPRETERS FOR ALL OF THE LANGUAGES. SO IT IS A REAL NEED AND AND MAY BE GLENN HAS THE ANSWER. HE IS RAISING HIS HAND. IS. >> GLENN NUCKOLLS: I WISH I DID. ONE THING THAT COMES TO MIND IS NIH FUNDS QUITE A NUMBER OF THESE CLINICAL AND TRANSLATIONAL SCIENCE AWARDS CTSAs AND I WONDER IF THERE ARE CTSAs THAT HAVE THESE RESOURCES TO BE ABLE TO FACILITATE, YOU KNOW, TRANSLATING MATERIALS IF THEY COULD SERVE AS A COST-EFFECTIVE SOURCE FOR THAT. AND THEN I GUESS IN PREPARING FOR THIS MEETING IN OUR CONVERSATION I THINK IT WAS JOAN THAT BROUGHT UP THE POINT OF, YOU KNOW, HAVING CONSENT FORMS AND OTHER DOCUMENTS FOR THE STUD Y TRANSLATED INTO SPANISH IS ONLY ONE PIECE OF IT, AND WHAT YOU REALLY NEED IS A STAFF ON YOUR RESEARCH TEAM, YOU KNOW, CLINICAL EVALUATORS THAT CAN WORK WITH THE PATIENTS AND THEY MAY NEED TO ALSO BE BILING BI LINGUAL. >> THIS BRINGS UP THE IMPORTANCE I WAS GOING TO MENTION AT THE END IS ENGAGING THE LOCAL COMMUNITY FROM THE VERY BE GINNING. ENGAGING THE COMMUNITY IN THE STUDY DESIGN & THEN YOU HAVE AMBASSADORS AND ADVOCATES FOR WHY IT IS IMPORTANT TO PARTICIPATE. SO I DO THINK IT IS IMPORTANT AND DR. WILFREDO DE JESUS ROJAS MENTIONED THAT IN HIS PRESENTATION THAT YOU REALLY NEED TO ENGAGE THE COMMUNITY FROM THE BEGINNING AND THEN YOU MIGHT NATURALLY IDENTIFY PEOPLE WHO CAN TRANSLATE NOT ONLY IN THE LOCAL LANGUAGE BUT ALSO LIKE THE INVESTIGATORS KNOW ABOUT PARTICULAR AND LOCAL PRACTICES THAT MIGHT EFFECT THE STUDY RESULTS. LET'S SAY IF THERE IS A TYPE OF FOOD OR THERE IS A TYPE OF SUPPLEMENT THAT PEOPLE TAKE REGULARLY FOR A PARTICULAR REASON AND THAT MIGHT CHANGE THE RESULTS OF THE STUDY. SO I THINK IT IS IMPORTANT TO HAVE THAT INFORMATION WHEN YOU'RE RECRUITING IN THE DIVERSE POPULATION. >> DAN: I THINK THERE ARE INTER NATIONAL ORGANIZATIONS THAT DUCHENNE ORGANIZATIONS ALL OVER THE WORLD AND THERE ARE ALSO FSH D, TURKEY, GREECE, NETHERLANDS, SIX 0S N U.S., SO NOT ONLY DO YOU HAVE THE LITERATURE ON HAND IN DIFFERENT LANGUAGES WE'RE ALSO STARTING TO HARNESS OUR SORT OF ETHNIC ALONG ETHNIC LINES TRANSLATIONAL- ORGANIZATIONAL. IT IS A CLUSTER OF ORGANIZATIONS OF NON-PROFITS WORKING TOGETHER ALONG SIDE THE ALLIED HEALTH JUST A FACTOR OF THE NETWORKS. THEY ARE INCREDIBLY VALUABLE. THE DUCHENNE CONNECT IN THE GLOBAL CONNECTIONS. THANKS. >> DR. BIANCHI: AGAIN, THAT MAY BE HELPFUL IN EXPLAINING A STUDY OR PROVIDING INFORMATION BUT WHEN IT CAME DOWN TO THE CONSENT FORM OUR IRB INSISTED ON THIS DOUBLE TRANSLATION TO MAKE SURE THAT -- . >> DAN: I KNOW EXACTLY WHAT YOU'RE TALKING ABOUT. DR. BIANCHI: OKAY ANY OTHER QUESTIONS? ANY COMMENTS THAT PEOPLE WANT TO BRING UP? IF NOT WE'RE JUST ABOUT AT TIME SO I'LL JUST MAKE A FEW COMMENTS AND THEN I'LL HAND IT OVER TO GLENN WHO WILL MAY BE SHARE SOME VERY FINAL THOUGHTS, BUT YOU KNOW WE'VE BEEN VERY PRIVILEGE TODAY TO HEAR FROM MERCIFUL, PARENTAL INDUSTRIES OTHER FEDERAL AGENCY PERSPECTIVES AND I THINK EVERYONE AGREES WITH REGARD TO THE OBVIOUS THAT WE NEED TO DO MORE AND WE CAN'T JUST ADMIRE THE PROBLEM AT SOMEONE SAID. I THINK IF WE ENGAGED THE COMMUNITY FROM THE START AND MAKE THIS A TEAM EFFORT THAT WE'RE MORE LIKELY TO ACHIEVE SUCCESS. WE'VE HEARD A NUMBER OF SUCCESSFUL APPROACHES INCLUDING THE CHECKLIST THAT I MENTIONED EARLIER ADDRESSING WAYS TO REIMBURSE PEOPLE FOR TAKING TIME OFF, THEY'RE LOSING PRODUCTIVITY AND REALLY GETTING PRETTY GRAN URAL IN TERMS OF MAKING IT AS EASY AS POSSIBLE FOR FAMILIES TO PARTICIPATE WITH THE SEARCH AND OFTEN TIMES TRANSPORTATION MAY BE THE BIGGEST ISSUE, I KNOW THAT IN BOSTON PARKING IN DOWNTOWN BOSTON IS $35 A DAY AND THAT IS REALLY A BARRIER FOR MANY PEOPLE. WE'VE LEARNED ABOUT THE VERY INNOVATIVE QR SQUOZE THAT'S -- Q R CODES AND THAT'S SOMETHING I'D LIKE TO LOOK IN TO WE'VE TALKED ABOUT VIRTUAL PARTICIPATION AND POTENTIALLY OFFERING OFF MONDAY TO FRIDAY 9:00 TO 5:00 TYPE OF WORK HOURS AND WE'VE COME UP WITH, YOU KNOW , LOT OF ALTERNATIVE WAYS TO LOOK AT THIS ISSUE. SO WE'RE GOING TO COME BACK TO THIS BECAUSE THIS IS A BIG CONCERN WITH NIH AND IT IS REALLY PART OF OUR OVERALL GOALS FOR THE COMING YEARS TO ACHIEVE MUCH MORE IN TERMS OF EQUITY, DIVERSITY, INCLUSION AND ACCESSIBLE. SO I WANT TO THANK EVERYONE FOR THEIR COMMENTS AND FOR SHARING THEIR EXPERIENCES AND HOPE EVERYBODY WILL HAVE A LITTLE BIT OF A QUIETER TIME OVER THE NEXT FEW WEEKS TO THINK ABOUT WHAT WE'VE DISCUSSED AND OF COURSE WE WELCOME YOUR E-MAILS IF YOU HAVE AN "AH-HA" MOMENT ON WHAT WE'VE DISCUSSED. >> DR. NUCKOLLS: THANKS DR. BIANCHI. THANKS TO ALL OF THE PRESENTERS AND PANEL DISCUSSIONS TODAY. I THINK I'VE LEARNED A LOT. I THINK I HAVEIOIDS ON WHERE WE AT NIH CAN HELP MOVE THIS TOPIC ALONG. MAYBE WE'LL BE ABLE TO REPORT BACK IN A FUTURE MEETING. SPEAKING OF FUTURE MEETINGS WE HAVEN'T PICKED A DATE YET FOR THE NEXT NICHD I'M THINKING PROBABLY MAY AND I'LL CONTACT MANY OF YOU. IF YOU HAVEIOIDS FOR TOPICS THAT YOU THINK WE SHOULD COVER PLEASE LET ME KNOW, OTHERWISE THANKS FOR A GREAT MEETING EVERYBODY AND HAPPY HOLIDAYS. >> THANK YOU. >> THANK YOU TO. >> THANK YOU ALL. >> HAPPY HOLIDAYS. >> BYE.