>> WELCOME TO THE SPRING 2022
MEETING OF THE MUSCULAR
DYSTROPHY COORDINATING
COMMITTEE.
I'M GLEN KNUCKLES A PROGRAM
DIRECTOR AT THE NATIONAL
INSTITUTE OF NEUROLOGICAL
DISORDERS AND STROKE.
LET'S HAVE OUR COMMITTEE MEMBERS
INTRODUCE THEMSELVES AND WE'LL
START WITH TERESA SAN AUGUSTA.
>> GOOD AFTERNOON, EVERYONE.
I'M TERESA SAN AGUSTIN.
I'VE BEEN WITH THIS COMMITTEE
SINCE 2007 AND I'M LOOKING
FORWARD FOR THE AFTERNOON
PRESENTATION.
THANK YOU.
>> THANKS, TERESA.
NOW WE'LL GO BY ALPHABETICAL
ORDER STARTING WITH DR. BIANCHI.
>> GOOD AFTERNOON, EVERYONE.
I'M DR. DIANA BIANCHI.
AND I'VE BEEN IN THIS POSITION
SINCE LATE 2016.
THANK YOU.
>> THANK YOU.
LINDSEY CRISWELL.
>> HELLO EVERYBODY I'M THE
DIRECTOR OF NIAMS.
AND I'VE BEEN IN THIS POSITION
SINCE FEBRUARY OF LAST YEAR.
GLAD TO BE HERE.
>> THANK YOU.
GUSTA VO DZIEWCZAPOLSKI.
>> I'M 9 SIGN AT THIS I CAN
DIRECTOR SINCE MAY OF 2016 AND
PART OF THE -- COMMITTEE -- THEN
OF 2018 AND -- WE HAVE NO
TREATMENT YESTERDAY BUT SOME
INTERESTING LEADS.
WE'RE GETTING SOME INTEREST FROM
THE PRIVATE SECTOR COMING TO ME
HERE.
>> THANK YOU.
EMILY FREILICH
>> GOOD AFTERNOON.
I'M HAPPY TO BE A MEMBER OF THIS
COMMITTEE.
>> THANK YOU.
GENE FREUND
>> HI.
I'M GENE FREUND.
CMS IS RESPONSIBLE FOR MEDICARE,
MEDICAID, THE HEALTH CARE MARKET
PLACE AS WELL AS A LOT OF
HOSPITAL QUALITY AND OTHER
QUALITY ISSUES.
>> THANK YOU.
MICHAIL GOLDSTEIN.
IS MICHAIL ON?
MAYBE NOT YET.
ALISHA KEEN.
IS ALISHA ON?
JIM KYLEE.
JIM, YOU'RE MUTED.
YOU SHOULD BE ABLE TO SPEAK NOW
JIM.
>> HELLO.
SORE E OTHER.
A LITTLE BIT OF A CONNECTION
PROBLEM.
I'M JIM KYLEE.
GREAT TO SEE ALL OF YOU.
>> THANK YOU.
WALTER --
>> I DO NOT SEE HIM YET.
>> MARY ELANA MAGUIRE.
>> HI, EVERYONE.
I'M THE PROGRAM MANAGER FOR THE
SOMETHING MUSCULAR DYSTROPHY
PROGRAM.
PART OF THE MEDICAL RESEARCH
PROGRAMS FOR THE DoD.
I'VE ACTUALLY BEEN ATTENDING
THESE MEETINGS.
I WANT TO SAY SINCE AROUND
2009-2010 AND THEN BECAME A
PANEL MEMBER BACK IN 2013.
LOOK FORWARD TO TODAY'S MEETING.
>> THANK YOU.
DAN PEREZ.
IS DAN ON?
>> I DON'T THINK HE IS ON YET.
>> OKAY.
NATALIE STREET.
I SEE NATALIE BUT IT LOOKS LIKE
-- SHE IS FROZEN.
LOOKS LIKE CONNECTION PROBLEMS.
>> LET'S GO BACK AND ASK
DR. KOROSHETZ.
>> HAPPY TO BE HERE.
>> ALISHA KEEN.
>> HI, EVERYONE.
>> NATALIE -- ARE YOU ON?
SEEMS LIKE YOUR WINDOW IS
FROZEN.
7 OKAY.
I THINK THAT IS IT FOR CURRENT
MEMBERS AND WE HAVE SOME
INCOMING MEMBERS AND THEY ARE
LISTED ON THE AGENDA AS NEW
MEMBERS AND I'VE LEARNED THEY
ARE STILL PENDING OFFICIAL
APPOINTMENT FROM THE HHS
SECRETARY SO WE STILL EXTEND A
WARM WELCOME AT THIS TIME AND
HOPE YOU'LL GET YOUR OFFICIAL
LETTER SOON SO LET'S INTRODUCE
DENISE MYLER.
>> HI, I'M GLAD TO BE PART OF
THIS.
>> THANK YOU.
ERIC WANG.
>> HI.
REPRESENTING -- FOUNDATION AND
ALSO A FACULTY MEMBER AT THE
UNIVERSITY OF FLORIDA.
>> AND CHRIS ANSELMO.
>> HI, EVERYONE.
THIS IS CHRIS ANSELMO.
REPRESENTING THE MUSCULAR
DYSTROPHY ASSOCIATION AND I'M
REALLY HAPPY TO BE HERE TODAY.
THANKS.
>> DID MICHAIL GOLDSTEIN JOIN?
THERE IS NATALIE.
DO YOU WANT TO INTRODUCE
YOURSELF
>> I APOLOGIZE.
HAVING SOME VERY BAD CONNECTION
ISSUES TODAY.
I'M NATALIE STREET.
I'M THE MUSCULAR DYSTROPHY
SCIENTIFIC LEAD AT THE CDC.
AND I THINK I'VE BEEN ON THE
COMMITTEE SINCE ABOUT 2018.
BUT HAVE BEEN COMING TO
COMMITTEE MEMBERS BEFORE THEN.
>> THANK YOU.
SO I'LL COVER GENERAL STUFF.
SO THIS MEETING IS BEING
CONDUCTED IN COMPLIANCE WITH THE
FEDERAL ADVISORY COMMITTEE ACT
TO ENSURE THAT THE COMMITTEE
PROVIDES EXPERT DEVICE AND
DIVERSE OPINIONS TO INFORM
DECISION MAKING BY OFFICIALS AND
AGENCIES IN THE EXECUTIVE BRANCH
OF THE FEDERAL GOVERNMENT IN A
MANNER THAT IS TRANSPARENT AND
FREE OF CONFLICTS OF INTEREST.
THERE IS NO CLOSED SESSION
PLANNED FOR TODAY.
WE DON'T ANTICIPATE DISCUSSIONS
OR ACTIONS SPECIFIC TO THE
FINANCIAL INTERESTS SO NO NEED
FOR ANY RECUSALS AT THIS TIME.
WE DID POST A NOTICE TO THE
FEDERAL REGISTER ABOUT THIS
MEETING AND DID NOT RECEIVE ANY
REQUESTS TO ADDRESS THE
COMMITTEE SO WE HAVE NOT
SCHEDULED A PUBLIC COMMENT
PERIOD DURING THIS MEETING BUT
THAT IS SOMETHING THAT WE'RE
WELCOME TO DO AT ANY OF OUR
MEETINGS.
THE MEETING IS BEING STREAMED
LIVE FOR PUBLIC VIEWING AND IT'S
ALSO BEING RECORDED AND THE
STREAM AND RECORDING ARE
AVAILABLE AT VIDEO CAST.NIH.GOV.
SO DURING THIS MEETING THE
PANELISTS AND OTHER PARTICIPANTS
CAN POST ANY QUESTIONS THEY HAVE
THROUGH THE CHAT AND WE'LL
MONITOR THE CHAT AND MAKE SURE
THAT WE GET THOSE QUESTIONS
ADDRESSED FOR YOU.
COULD YOU BRING UP THE FIRST
SLIDE THAT I ASKED FOR.
SO I JUST WANTED TO GIVE A BRIEF
UPDATE ON THE TOPIC THAT WE
COVERED FROM OUR MEETING IN
DECEMBER.
AND YOU RECALL IN DECEMBER OUR
MEETING WAS FOCUSED ON
STRATEGIES TO PROMOTE DIVERSITY
IN THE MUSCULAR DYSTROPHY
CLINICAL STUDY PARTICIPATION.
SO WE'VE TAKEN THE LESSONS
LEARNED AND OTHER
RECOMMENDATIONS FROM THAT
MEETING AND SUMMARIZED THEM ON
TO THE WEBSITE.
SO IF YOU GO TO OUR WEBSITE
THERE IS A NEW BUTTON AT THE TOP
THAT SAYS STRATEGIES TO PRE MOAT
DIVERSITY AND IF YOU CLICK THAT
IT TAKES TO YOU THIS PAGE.
WHERE WE PROVIDE GUIDANCE TO
RESEARCHERS WHO ARE PLANNING
RESEARCH STUDIES SO THEY CAN
CONSIDER STEPS THAT ARE KNOWN TO
REDUCE OBSTACLE ELSE TO
PARTICIPATION.
* SO FOR EXAMPLE IF YOU CLICK ON
SOCIOECONOMIC IT EXPANDS TO A
SET OF RECOMMENDATIONS ON THINGS
LIKE TRANSLATING CONSENT FORMS
TO HAVING BILINGUAL STUDY
PERSONNEL AND OTHER EFFECTIVE
STRATEGIES THAT WE TALKED ABOUT
AT OUR PREVIOUS MEETING.
SO THEN ON THE ORIGINAL PAGE THE
SITE ALSO HAS AT THE BOTTOM
LINKS TO ADDITIONAL GUIDANCE
FROM THE FDA AND NIH GUIDANCE ON
THIS TOPIC AND HOPEFULLY THIS
WILL HELP RESEARCHERS TO PLAN
AND CONDUCT STUDIES THAT HAVE
APPROPRIATE ENROLLMENT DIVERSITY
AND WE LOOK FORWARD TO POINTING
TO THIS WEBSITE IN OUR FUTURE
FUNDING OPPORTUNITY
ANNOUNCEMENTS SO THAT THAT
INFORMATION WILL BE AVAILABLE TO
PEOPLE AS THEY ARE PLANNING
THEIR RESEARCH STUDIES.
REALLY WANT TO SAY THANKS TO
MARIE FOR CONSTRUCTING THIS
WEBSITE.
SO, THAT IS ALL FOR MY
INTRODUCTION AND I'LL TURN THE
MEETING BACK OVER TO
DR. BIANCHI.
>> THANK YOU, GLEN.
THIS IS THE FIRST TIME I'M
ACTUALLY DRIVING IN A ZOOM
PRESENTATION FROM MY OFFICE IN
TWO YEARS SO I'M PRETTY -- WITH
MY LAPTOP SO THIS WILL BE
ADVENTURE.
>> ARE YOU SEEING THIS?
OKAY.
YOU'RE SEEING THE PRESENTATION
MODE HOPEFULLY
>> YOU'RE STILL ON SPEAKER VIEW.
JUST SWAP IT AND YOU WILL BE ALL
SET.
PERFECT.
>> ALL RIGHT.
EXCELLENT.
YOU CAN TRAIN OLD DOGS.
IT'S MY GREAT PLEASURE TO BE
WITH YOU TODAY AND I'M LOOKING
FORWARD TO EVERYONE ELSE'S
PRESENTATION SO I WOULD ALSO
LIKE TO ACKNOWLEDGE
DR. ELIZABETH BADEN'S ASSISTANCE
IN PUTTING THIS TOGETHER.
WE'VE WELCOMED EVERYONE AND THE
NEW MEMBERS OF THE COMMITTEE.
I'M GOING TO BE TALKING ABOUT
THESE TOPICS TODAY AND I HAVE
LET A GOOD AMOUNT OF TIME FOR
QUESTIONS SO PUT YOUR QUESTIONS
IN THE CHAT BOX WHICH I CANNOT
SEE NOW BUT WE'LL GET TO IT
AFTERWARDS OR SIMPLY WRITE THEM
DOWN.
WE'RE IN THE MIDDLE OF A BUDGET
SEASON.
WE HAVE THIS WEEK THE HOUSE
BUDGET HEARING FOR FISCAL YEAR
23. AS YOU PROBABLY KNOW WE DID
NOT GET THE FISCAL 22 BUDGET
UNTIL THE MIDDLE OF MARCH.
THAT MEANS EVERYONE WORKS TWICE
AS HARD TO GET THE SAME AMOUNT
OF WORK DONE IN HALF OF THE
TIME.
NIH DID GET AN INCREASE TO THE
BUDGET $45 BILLION AND IN
ADDITION A BILLION DOLLARS IS
GIVEN TO ESTABLISH ARPA-H WHICH
WILL HAVE A DUAL REPORTING
RELATIONSHIP WHERE THEY THEIR
ADMINISTRATIVE ASPECTS WILL BE
AFFILIATED WITH THE NIH BUT THE
DIRECTOR WILL REPORT DIRECTLY TO
HEALTH AND HUMAN SERVICES
SECRETARY -- AGAIN IN PARALLEL
WE'RE RIGHT NOW WORKING ON THE
FISCAL 2023 BUDGET.
WE HAVE PUT FORWARD SOME
RECOMMENDATIONS.
THE PRESIDENT HAS PROPOSED
$62.5 BILLION FOR NIH WHICH
INCLUDES A FLAT BASED BUDGET AND
ANNA ADDITIONAL $5 BILLION FOR
ARPA-H AND $12 BILLION FOR
PANDEMIC PREPAREDNESS.
NOW DON'T WORRY ABOUT THAT
$45 BILLION FLAT REQUEST.
IT WAS BASED ON THE CONTINUING
RESOLUTION FIGURES BECAUSE WHEN
THE PRESIDENT PUT FORWARD HIS
BUC WE DID NOT HAVE A FISCAL
CAREER 23 BUDGET.
THERE WILL BE MORE POTENTIALLY
AVAILABLE BUT THAT IS THE
MISSION THIS WEEK.
I WILL BE TESTIFYING IN THE
HOUSE HEARINGS ALONG WITH FIVE
OTHER NIH DIRECTORS AND THE
INSTITUTE DIRECTORS AND ACTING
DIRECTOR TABAK AND THE FOLLOWING
WEEK FIVE OR SIX DIRECTORS WILL
BE SPEAKING AT THE SENATE BUDGET
HEARINGS.
AGAIN AS YOU PROBABLY KNOW
DR. COLLINS STEPPED DOWN AS THE
NIH DIRECTOR ON DECEMBER 20th
LAST YEAR.
HE THOUGHT HE WAS GOING TO BE
RETIRING TO A LIFE AS A SENIOR
INVESTIGATOR DOING RESEARCH IN
HIS OWN LAB BUT THEN THE
PRESIDENT TAPPED HIM TO BE HIS
SCIENCE ADVISOR IN THE CABINET
AS WELL AS THE PRESIDENT'S
COUNCIL ADVISORY COUNCIL ON STEM
TECHNOLOGY -- SCIENCE AND
TECHNOLOGY.
HE IS THE COCHAIR OF THE P CAST.
HE IS FREQUENTLY AROUND OR IN
THE WHITE HOUSE.
IN THE MEANTIME DR. TABAK IS
DOING A SUPERB JOB AS THE ACTING
NIH DIRECTOR AND THE WHITE HOUSE
IS CONDUCTING THE SEARCH FOR THE
NEXT DIRECTOR.
RUMORS -- WE DON'T KNOW IF THEY
ARE TRUE -- ONCE SOMEONE IS
NAMED THAT PERSON WILL THEN NEED
TO UNDERGO SENATE CONFIRMATION.
AT THE SAME TIME WE'VE GOT TWO
OTHER INSTITUTE DIRECTOR
VACANCIES N KATZ AND THAT SEARCH
HAS MOVED ALONG BUT IT IS
WAITING TO * SEE IF THERE IS A
PERMANENT DIRECTOR NAMED AND NCI
-- THE PRESIDENT WOULD NEED
IDENTIFY AN NCI DIRECTOR WHO
WILL ALSO UPPED GO SENATE
CONFIRMATION.
I'M NOT GOING TO SAY A LOT ABOUT
COVID-19.
I DID WANT TO BRING ONE THING TO
YOUR ATTENTION WHICH I THINK IS
OF INTEREST TO THIS GROUP.
I DON'T KNOW HOW MANY OF YOU
HAVE HAD THE EXPERIENCE OF DOING
AT HOME ANTIGEN TESTING.
I'VE DONE IT FREQUENTLY TO BE
SAFE AT WORK AND ALSO IF I'M
GOING FOR ANY SORT OF EVENT I
WOULD LIKE TO KNOW WHEN I'M
NEGATIVE SO THAT I'M NOT
TRANSMITTING SARS-CoV-2
INFECTION TO COLLEAGUES OR
PEOPLE THAT I MEET BUT I'VE ALSO
WATCHED MY HUSBAND WHO'S NOT
MEDICAL OR SCIENCE BASED I'VE
ALSO WATCHED HIM TRY TO DO IT
AND IT'S NOT SO EASY IF YOU
DON'T HAVE A LABORATORY BASED
BACKGROUND AND IT'S EVEN MORE
DIFFICULT IF YOU HAVE ANY SORT
OF DISABILITY WHETHER IT'S A
PHYSICAL DISABILITY OR BLIND FOR
EXAMPLE.
WE'VE DONE AN A AMAZING JOB IN
MAKING THESE TESTS AVAILABLE.
IN MANY CASES AT NO COST TO THE
GENERAL PUBLIC.
BUT THE PROBLEM IS THEY ARE NOT
ACCESSIBLE FOR PEOPLE WHO HAVE A
VARIETY OF ISSUES SO NIBIB HELD
A MEETING THAT WAS HOSTED BY THE
CONSORTIUM FOR IMPROVING
MEDICINE WITH INNOVATION NAME AS
-- AND CIMIT.
AND THE GOALS WERE TO UNDERSTAND
CHALLENGES TO THE ACCESSIBILITY
OF AT HOME TESTS.
AND TO IDENTIFY BEST PRACTICE
AND GOOD MODELS.
AND THEY ESTABLISHED OPEN LINES
OF COMMUNICATION FOR AN ONGOING
DISCUSSION.
AND THIS IS REALLY IMPORTANT
BECAUSE I THINK WHAT THIS WHOLE
EXPERIENCE HAS SHOWN US IS THAT
IT DOES WORK IF YOU CAN GET
TESTING INTO THE HANDS OF THE
GENERAL PUBLIC.
AND WE HOPE THAT THE PANDEMIC
WILL BE OVER SOON BUT IT MAY NOT
BE AND THERE MAY BE OTHER THINGS
THAT REQUIRE TESTING SO THIS WAS
AN AMAZING ACHIEVEMENT TO GET
THE TESTING OUT THERE BUT WE CAN
DO BETTER.
THERE IS A SPECIAL NOTICE THAT
ADDRESSES ACCESSIBILITY AND
EQUITIES FOR INDIVIDUALS WITH
VISUAL IMPAIRMENT BUT ALSO
LOOKING FOR TESTING
ACCOMMODATIONS FOR PEOPLE WHO
HAVE FINE MOTOR OR OTHER GROSS
MOTOR ISSUES WHERE THEY WOULD
NOT BE ABLE TO PERFORM THE
TESTING.
LAST TIME I MIGHT HAVE MENTIONED
THE SOMATIC CELL GENOME EDITING
PROGRAM BUT THIS IS RELEVANT FOR
THE THERAPIES.
IN ITS FIRST YEAR PHASE IT
FUNDED 45 PROJECTS.
THE SECOND FIVE-YEAR PHASE IS
NOW FOCUSING ON TRANSLATING AND
ACCELERATING SAFE AND EFFECTIVE
GENOME EDITING THERAPEUTICS AND
IT HAS THREE PARTS.
SO THE FIRST PART IS TO DEVELOP
NOVEL TECHNOLOGIES.
THE SECOND PART IS TO BUILD A
FOUNDATION FOR -- APPLICATIONS
AND THE THIRD PART IS TO DELIVER
RESOURCES TO ACCELERATE
TREATMENTS.
AND THIS IS AGAIN NIH WIDE AND
THERE IS A LOT OF DISCUSSION AS
TO WHICH SINGLE GENE DISORDERS
WOULD BENEFIT MOST FROM THIS
NOVEL POINT OF THERAPY.
WE HAVE SEVERAL DIFFERENT
FUNDING OPPORTUNITIES IN THIS
AREA.
SO THE FIRST IS ACTUALLY A
REQUEST FOR INFORMATION.
IT'S NOT A FUNDING OPPORTUNITY
BUT IT IS REALLY A WAY OF
REWARDING PEOPLE FOR THINKING
ABOUT NEW TECHNOLOGIES THAT
COULD DELIVER EITHER NONVIRAL OR
CELL TYPE SPECIFIC THERAPIES.
SO THIS IS YOUR OPPORTUNITY IF
YOU WOULD LIKE TO MAKE
SUGGESTIONS ABOUT WHAT MATERIALS
SHOULD BE IN A CHALLENGE.
WE ALSO HAVE SEVERAL FUNDING
OPPORTUNITY ANNOUNCEMENTS FOR
PLATFORM CLINICAL TRIALS.
AND WE'RE GOING TO BE TALKING
ABOUT THIS.
TODAY AND IN FUTURE MEETINGS.
SO SOME OF THESE TRIALS ARE
INCLUDING AT LEAST TWO DIFFERENT
DISEASES CUES ARE USING THE SAME
GENOMED TOWARD ADMINISTRATION
AND DELIVERY SYSTEM.
AND ANOTHER OPPORTUNITY OUT
THERE THAT IS -- WHERE TEAMS ARE
ESTABLISHED AND DEVELOPED TO
INVESTIGATE RESEARCH TO MAKE THE
TRANSLATION TO THE CLINIC THAT
MUCH FASTER AND THEN LASTLY
THERE IS ANOTHER IND OPPORTUNITY
THAT IS ON TECHNOLOGIES AND
ASSAYS FOR THERAPEUTIC GENOME
EDITING.
THEY ARE SLIGHTLY DIFFERENT.
SO, THAT IS ONE OPPORTUNITY TO
HELP GET THERAPIES TO THE CLINIC
FASTER.
AND I SHOULD SAY TODAY'S
PRESENTATION IS LIKE A LITTLE
POTPOURRI OF THINGS THAT WE
WANTED TO GET TO YOUR ATTENTION
BUT DON'T NECESSARILY NEED TO
TAKE UP AN ENTIRE PRESENTATION.
BUT THERE ARE THINGS THAT ARE
IMPORTANT.
SO ONE IS OUR PROGRESS IN EARLY
STAGE INVESTIGATORS.
SO WE REALLY NEED THE NEXT
GENERATION TO BE FUNDED AND TO
HAVE THE SECURITY OF KNOWING
THAT THEY HAVE A CARRERA HEAD OF
THEM AND I JUST THOUGHT THIS WAS
QUITE INTERESTING.
IF YOU IGNORE THE DIP WHICH WAS
AROUND THE TYPE OF FLAT FUNDING
OF NIH AND LOOKING AT 2017
ONWARDS YOU CAN SEE THE INCREASE
IN THE NUMBER OF EARLY STAGE
INVESTIGATORS AND THIS IS THE
RESULT OF BOTH NIH AND
CONGRESSIONAL INTEREST IN
PREFERENTIAL FUNDING OF EARLY
STAGE INVESTIGATORS.
I KNOW THAT AT NIH THEY HAVE A
MUCH MORE GENEROUS PAY LINE.
SO WE'RE ABLE TO PAY MORE OF
THEM WHO WOULD HAVE HAVE
RECEIVED GRAND FUNDING OTHERWISE
AND WE HAVE HAD A GOAL FOR A
NUMBER OF YEARS OF FUNDING AT
LEAST 1100 AND YOU CAN SEE THAT
WE'VE EXCEEDED THAT SO, THAT IS
VERY GOOD NEWS.
ANOTHER THINGS THAT RELATESES TO
OUR PREVIOUS MEETING IS
PROMOTING SCIENTIFIC RESEARCH
TOWARDS DIVERSITY.
LAST TIME WE TALKED ABOUT THE
WORKFORCE AS WELL AS INCLUDING A
DIVERSE WORKFORCE POPULATION.
BUT WE HAVE A NUMBER OF
INITIATIVES FROM DR. BERNARD'S
OFFICE THE NIH CHIEF OFFICER FOR
DIVERSITY AND A NUMBER OF
INSTITUTES ARE CONTRIBUTING TO A
POTENTIAL PRIZE FOR
INSTITUTIONAL EXCELLENCE IN DEIA
ISSUES AND NICHD IS CONTRIBUTING
TO THIS.
MY FELLOW DIRECTORS MIGHT WANT
TO COMMENT AS TO WHETHER THEY
ARE ALSO CONTRIBUTING.
THIS IS FOCUSING ON THE
EXTRAMURAL COURSE IN THE
UNIVERSITY ARE UNIVERSITY AND
CHANGING INSTITUTIONAL CULTURE
IN HIGHER EDUCATION AND REALLY
LOOKING FOR BEST PRACTICES.
HIGHLIGHTING SYSTEMS.
PROJECTS AND PROCESSES AND
CREATE RESEARCH AND ENVIRONMENTS
THAT PROMOTE DIVERSITY, EQUITY
AND INCLUSION AND ACCESSIBILITY.
THIS IS AN OPPORTUNITY FOR WHICH
RESPONSES ARE DUE AT THE END OF
JULY SO THERE IS THREE MONTHS OR
SO THAT YOU COULD BE ABLE TO
PARTICIPATE AND THERE IS A NOTE
NOTICE OF SPECIAL INTEREST TO
RECOGNIZE THIS AND THIS IS A
WONDERFUL WAY OF RECOGNIZING
FACULTY MEMBERS WHO HAVE
DEMONSTRATED OUTSTANDING
MENTORSHIP TRAINING ESPECIALLY
TO INDIVIDUALS FROM GROUPS
IDENTIFIED AS UNDER REPRESENTED
IN THE BIOMEDICAL SCIENCES.
UNFORTUNATELY THAT ONE HAS
CLOSED BUT I WANTED YOU TO BE
AWARE OF IT.
THE LAST PART IS HIGHLIGHTING
SOME ADVANCES IN MUSCULAR
DYSTROPHY RESEARCH.
AND SO I HAVE A NUMBER OF SLIDES
FROM PUBLICATION THAT'S WE'VE
SELECTED AND IF YOU THINK THERE
IS SOMETHING MAJOR THAT WE
SOMEHOW NEGLECTED TO MENTION
FEEL FREE TO SPEAK UP AT THE
END.
THE FIRST ONE IS AND A NUMBER
ARE FOCUSED ON BIOMARKERS AND IN
PARTICULAR SEEKING NONINVASIVE
BIOMARKERS OF HSHD AND
CORRELATING THEM * WITH DISEASE
PROGRESSION THAT COULD BE USED
IN CLINICAL TRIALS AND THERAPY.
FSHD -- -- ALSO LOOKING AT
BIOMARKERS AND CLINICAL
MEASURES.
AND UNFORTUNATELY THERE WAS NOT
ONE BIOMARKER THAT SHOWED A
STRONG CORRELATION WITH OVER-ALL
DISEASE PROJECTION.
-- PROGRESSION.
*.
MRI IS A LITTLE BIT MORE
NONINVASIVE AND A RELATIVELY NEW
TECHNIQUE -- -- TIRM.
AND PARTICULARLY LOOKING AT AN
INCREASE IN FAT FRACTION AS
ASSOCIATED WITH LATER STAGE
DISEASE.
AND WHILE THERE WAS NOT ONE
IDEAL BIOMARKER, DATA IS HELPING
TO GUIDE BIOMARKER SELECTION FOR
FUTURE TRIALS.
THERE IS A POTENTIAL NEW
TREATMENT APPROACH FOR FSHD.
MUSCLE TISSUE IS PARTICULARLY
DIFFICULT TO TARGET.
AND THIS STUDY IDENTIFIED
SEVERAL NATURALLY OCCURRING
MICRO RNAS THAT IS COULD INHIBIT
DUX4 TRANSCRIPTION.
MICRO RNA675 SUPPRESSES.
AND DELIVERING -- BY GENE
THERAPY IN A DUX4 MODEL LED TO A
SIGNIFICANT REDUCTION.
SMALL MOLECULES INCREASED THE
LEVELS OF MIR675 AND ASSOCIATED
DISEASE OUTCOMES IN
PATIENTLY-DERIVED MUSCLE CELLS.
THIS STUDY HAS BEEN SUPPORTED BY
BOTH NIAMS AND THE PREVIOUS
STUDY WAS SUPPORTED BY NIADS.
THE NEXT STUDY IS ADDRESSING
COGNITIVE FUNCTION IN DM1
CLINICAL TRIALS.
THIS WAS SUPPORTED BY N NINDS, AND
THE MUSCULAR DYSTROPHY
ASSOCIATION.
THE BEST METHODS TO ADDRESS OR
ASSESS -- ACROSS MULTIPLE SITES
STILL REMAINS UNDETERMINED.
SO THIS WAS A PERSPECTIVE
LONGITUDINAL STUDY OF 113
ADULTS.
TO VALIDATE USE OF COMPUTERIZED
TESTS AND THE RESULT SHOWED THAT
IT WAS FEASIBLE TO USE
COMPUTERIZED COGNITIVE TESTS IN
MULTI-SITE STUDIES.
ALSO THE LOWER PERFORMANCE IN
WORKING MEMORY.
AND FUTURE TESTS THAT INCLUDE
MEASURES OF VISUAL SPATIAL
PERFEC--PERCEPTION COULD BE VALID.
-- A CLINICAL TRIAL TESTING
COURT CENTER STRIDE -- COURT
CO-STEROID DOSING REGIMEN.
-- IT WAS THE DAILY REGIMEN THAT
RESULTED IN SIGNIFICANTLY BETTER
OUTCOMES.
THERE WERE NO SIGNIFICANT
DIFFERENCES BETWEEN THE TWO
TYPES OF DAILY CORTICO STEROIDS.
THE FUTURE * TRIALS WILL TEST
NOVEL TREATMENT FOR DIFFERENT
DOSAGE.
FOR EXAMPLE A HIGHER DOSE.
THIS STUDY DID SHOW A
THERAPEUTIC ADVANTAGE BUT ALSO
PROVIDES VALID BASELINE DATA AND
THIS AS WELL IS PUBLISHED IN
JAMA AND SUPPORTED BY NAINDS.
AND THEN THERE IS UNDERSTANDING
RESPIRATORY MUSCLE DEGENERATION.
THERE IS NOT MUCH KNOWN ABOUT
ABDOMINAL MUSCLE PATHOLOGY AND
ITS RELATIONSHIP.
HOWEVER THE LEVEL OF MUSCLE
REPLACEMENT BY FAT CAN BE
ESTIMATED USING M-R AND
EXPRESSED AS A FAT FRACTION.
INDIVIDUALS IN THIS STUDY WHO
HAD DMD WHO UNDERWENT ABNORMAL
MRI TO DETERMINE THE FAT
FRACTION.
AND THE DATA WERE USED TO
ESTIMATE A MODEL EXPERFECT TORI
MODEL * DEGENERATION.
HERE AGAIN CORTICO STEROIDS WERE
USED TO TREAT AND A MILD
PHENOTYPE WERE ASSOCIATED WITH
SLOWING OF EXPERFECT TORI MUSCLE
FATTY IN FILTRATION.
* AND THIS STUDY WAS SUPPORTED
BY NIAMS, NHLBI AND NICHD.
7 SO THE LAST STUDY THAT I WANT
TO HIGHLIGHT IS A GENED ITING
STUDY WITH CRISPR CAS9 IN A DOG
MODEL.
MOST OF WHAT WE'VE KNOWN TO DATE
HAS BEEN DONE IN MICE.
THESE ARE TWO STUDIES ONE OF
WHICH WAS PUBLISHED IN MOLECULAR
THERAPY -.
THESE STUDIES COMPARED MUSCLE
SPECIFIC TO GENE EDITING WITH
CRISPR CASS 9 IN DOGS TO MICRO
-- GENE PLACEMENT.
-- DOG MODELS OF DMD AND
IMPORTANTLY UNLIKE THE SITUATION
IN MICE DOGS EXHIBITS A ROBUST
NEW RESPONSE TO THE
CAS9 L0 PROTEIN.
THIS COULD BE MINIMIZED BY NOT
ENTIRELY AVOIDED.
IT DOES UNFORTUNATELY * A
POTENTIAL ROADBLOCK TO THE
THERAPEUTIC USES OF CRISPR
TECHNOLOGY.
A GOOD NEWS BAD NEWS STORY.
SO THOSE ARE THE STUDIES THAT I
WANTED TO HIGHLIGHT AT THIS
POINT.
WE'RE WELCOMING QUESTIONS.
THERE ARE SOME IN THE CHAT BOX
SO LET ME STOP SHARING.
AND I JUST WANT TO MAKE NOTE OF
THE FACT THAT THE NICHD
BACKGROUND ACKNOWLEDGES THAT
WE'RE IN 2022 CELEBRATING OUR
60th ANNIVERSARY.
SO NOW WE MOVE TO THE CHAT BOX.
AND GLEN, DO YOU WANT TO COMMENT
ON THE AWARDS.
>> YOU HAD BROUGHT UP COMMITMENT
TO SUPPORTING EARLY STAGE
INVESTIGATORS FOR RO1s.
NIH HAS ESTABLISHED A NEW
PROGRAM SPECIFICALLY FOR EARLY
STAGE INVESTIGATOR RO1s AND
SPECIFICALLY FOR RESEARCHERS WHO
ARE CHANGING THEIR RESEARCH
DIRECTION AND THIS PROGRAM HAS
BEEN NAMED AFTER STEVEN CATS.
THE FORMER CHAIR AND FORMER
DIRECTOR OF NAIMS.
THAT PROGRAM HAS BEEN GOING ON
FOR ABOUT A YEAR NOW AND
HOPEFULLY IT'S HAVING A POSITIVE
IMPACT IN ALLOWING JUNIOR
INVESTIGATORS TO START EXCITING
NEW PROJECTS AND NEW DIRECTIONS.
>> GLEN, THANK YOU SO MUCH FOR
BRINGING THAT UP.
IT'S IMPORTANT FOR THE AUDIENCE
TO KNOW THAT WHAT MAKES THE CATS
AWARDS DIFFERENT IS THAT YOU
DON'T NEED PRELIMINARY DATA.
SO THE TYPICAL RO1 WOULD BE
EXPECT TO HAVE DATA AND THE ESI
THE EARLY STAGE INVESTIGATORS
CAN BE FUNDED WITH A DIFFERENT
PAY LINE.
BUT THE CATS AWARDS REALLY
HIGHLIGHT THE FACT THAT THIS IS
A YOUNG INVESTIGATOR AND THE
EVALUATIONS OR REVIEW OF THE
GRANTS ARE MADE FOCUSING ON
POTENTIAL AND NOT HAVING THE
EXPECTATIONS OF PRELIMINARY
DATA.
SO IT'S A GREAT OPPORTUNITY.
OTHER QUESTIONS?
DAN, I SEE THAT YOU'VE SIGNED
ON.
I PUT IT FIRST
>> THANK YOU, KINDLY.
GOOD TO BE HERE.
DANIEL PEREZ AND CO-FOUNDER AND
DIRECTOR -- THANK YOU FOR HAVING
ME HERE.
I JUST HAD A QUESTION -- WILL WE
BE REASSESSING THE FUNDING
LEVELS -- THE COMPOSITION -- OUT
OF $100 MILLION -- -- -- BECAUSE
AS I LOOK AT THE FUNDING LEVEL
FOR THE DISEASE -- IT IS
DIFFICULT TO KNOW WHETHER OR NOT
WE'RE ACTUALLY -- -- FOR THE
DISCOVERY.
AND I JUST DIDN'T KNOW IF THAT
WAS UNDERLINED OR WHAT YOUR
THINKING IS -- ---IN TERMS OF
EXAMINING THAT -- ---
>> THANK YOU FOR THAT QUESTION.
GLEN AND WALTER, WOULD YOU WANT
TO ADD YOUR CONTINUES AND WHAT
YOU'RE SUGGESTING SOUNDS TO ME
LIKE STRATEGIC PLANNING A. AND
REALLY TAKING THE LONGVIEW OF *
OF WHAT ARE WE DOING NOW.
WHERE ARE THE GAPS AND WHERE DO
WE NEED TO MOVE MORE QUICKLY.
BUT MAYBE GLEN AND WALTER WANT
TO ADD THEIR COMMENTS.
>> WELL I'M GOING TO COMMENT
THAT WE DON'T HAVE PLANS FOR
TODAY'S MEETING TO GO BACK AND
LOOK AT HISTORIC LEVELS AND
CURRENT LEVELS OF FUNDING FOR
THE DIFFERENT FORMS OF MUSCULAR
DYSTROPHY.
THAT INFORMATION IS AVAILABLE AT
ANY TIME ON THE NIH WEBSITE ON
THE NIH REPORTER.
IT'S SOMETHING THAT WE CAN
CONSIDER FOR PERHAPS THE FALL
MEETING THAT WE COULD REVIEW
WHERE WE ARE IN TERMS OF FUNDING
LEVELS FOR DIFFERENT MUSCULAR
DYSTROPHYs.
>> -- -- WHEN I LOOK AT NIH RCDC
-- RC -- 9:00 OR $10 MILLION --
BUT WHEN I LOOK AT NIH REPORTER
-- I SEE ABOUT $18 MILLION.
$17 MILLION TO $18 MILLION.
THERE IS QUITE A DISCREPANCY
BETWEEN THE TWO.
I WONDERED WHETHER OR NOT -- WE
MIGHT WANT TO TAKE A LOOK AT
THAT.
PROJECT THAT'S I SEE UNDER RCDC
-- ARE TAGGED * -- APPROPRIATELY
BUT ---THEY ARE NOT DEAD CENTER
ON -- -- APPLICATION -- SO AGAIN
THERE IS A $10 MILLION VERSUS
$18 MILLION.
CDC FUNDING.
IT'S TOUGH TO KNOW -- THE
$10 MILLION.
WE'VE GONE DOWN -- SINCE FIVE
YEARS AGO.
-- AND -- -- -- WE'RE NOT REALLY
IT'S NOT INCREASING.
SO I'M LITTLE CONFUSED.
IT'S UNCLEAR TO ME WHAT THE
TRAJECTORY IS.
>> I CAN MAKE A COMMENT BUT I'M
GOING TO ACKNOWLEDGE LINDSEY AND
THEN WALTER TURNED ON HIS VIDEO
TOO.
RCDC EACH CATEGORY IS NOT
INDEPENDENT OF THE OTHER.
THERE IS DUPLICATION IN RCDC AND
THE REPORTER SO, ITS POSSIBLE
THAT REPORTER HAS A LARGER
AMOUNT OF DOLLARS BECAUSE THERE
ARE OTHER GRANTS THAT ARE NOT
FOCUSED EXCLUSIVELY ON FSHD BUT
MENTIONED IN THE ABSTRACT OR
SOMEWHERE IN THE APPLICATION SO
IT GETS ADDED TO THAT CATEGORY
BUT I'M GOING TO HAND IT OVER TO
DR. GRISWALD
>> THANK YOU FOR THAT QUESTION
AND I JUST WAS GOING TO COMMENT
THAT PERHAPS THE CRISWELL.
-- *.
THERE IS AN ENTIRE OFFICE
DEVOTED TO PORTFOLIO ANALYSIS
AND THEY ARE DEVELOPING AND
APPLYING TOOLS THAT CAN HELP
UNDERSTAND IT AT A DEEPER LEVEL
THAT GOES BEYOND THE CODES.
THE NATURE OF PORTFOLIO AND HOW
THEY ARE EVOLVING OVER TIME.
SO IF THERE ARE CHALLENGES WE
MIGHT WANT TO CONSIDER REACHING
OUT TO THEM.
AND HE HAS BEEN RESPONSIVE TO
SOME OUTREACH THAT WE'VE DONE AT
NIAMS.
>> WALTER
>> DAN, THE RCDC WAS BUILT TO BE
CONSISTENT YEAR TO YEAR A. AND
IT CODES * FOR DISEASE AREAS.
REPORTER DOES NOT DO THAT.
REPORTER IS JUST ANYTHING THAT
HAS ANYTHING TO DO WITH ANYTHING
THAT IS EVEN CLOSE.
SO YOU CANNOT RELY ON REPORTER
FOR -- YOU CANNOT USE REPORTER
TO TALK LATE THE DOLLARS.
YOU HAVE TO STICK WITH RCDC.
>> BUT EVEN RCDC IS NOT
ACCURATE.
THERE ARE OVERLAP SO WE'RE
LOOKING AT CERTAIN TOPICS MORE
THAN ONCE.
SO IT DOESN'T GIVE YOU AN
ABSOLUTE AMOUNT.
THAT WOULD REQUIRE A LOT MORE
WORK.
>> THAT -- THE GRANTS THAT ARE
IDENTIFIED IN THE RECORDER ARE
ALL -- THEY ARE ALL ON TARGET.
---THE RCDC NUMBER IS THAT LOW.
I UNDERSTAND WHAT YOU'RE SAYING.
I DON'T THINK THEY ARE THAT FAR
OFF THE MARK.
BUT -- -- ANY WAY -- THANK YOU.
THANK YOU.
FOR YOUR QUESTION.
OTHER QUESTIONS?
I DON'T SEE ANY.
PLEASE RAISE YOUR HAND OR PUT
SOMETHING IN THE CHAT BOX.
WE CAN GO ON.
WE'RE ACTUALLY ON TIME.
SO WE CAN MOVE ON TO THE NEXT
SPEAKER.
SO AS YOU KNOW WE WELCOME OTHER
ORGANIZATIONS MEMBER
ORGANIZATIONS TO HIGHLIGHT
STUDIES THAT THEY HAVE
SUPPORTED.
TO SO OUR NEXT PRESENTATION WILL
BE FROM DR. NATALIE STREET WHO'S
A HEALTH SCIENTISTS FOR THE
DIVISION OF HUMAN DEVELOPMENT
AND DISABILITY AT THE CENTERS
FOR DISEASE CONTROL AND
PREVENTION.
THERE HAVE BEEN SEVERAL EXCITING
PAPERS REPORTING RESULTS FROM
CDC FUNDED PROJECTS THAT HAVE
BEEN PUBLISHED SINCE OUR LAST
MEETING SO WE'RE VERY FORTUNATE
TO HAVE NATALIE HERE TODAY TO
TELL US A LITTLE BIT MORE ABOUT
THEM.
OVER TO YOU, NATALIE.
THANK YOU FOR BEING HERE.
>> THANK YOU FOR INVITING ME TO
TALK ABOUT SOME OF THE RECENT
FINDINGS THAT HAVE COME OUT.
I'M GOING TO SHARE MY SCREEN AND
SO -- LET ME KNOW -- WHEN YOU
CAN SEE IT.
DOES EVERYBODY SEE MY SCREEN?
>> NOT YET.
>> IT LOOKS LIKE IT SHOULD BE
SHARING SO LET ME KNOW.
>> ALL RIGHT.
THANK YOU VERY MUCH.
NOW YOU CAN SEE THE SCREEN.
SO I THINK I CAN GO TO THE NEXT
SLIDE.
SO AS -- WE SAID EARLIER TODAY
-- I'M GOING TO BE PRESENTING ON
SOME RECENTLY PUBLISHED FINDINGS
BUT I DO WANT TO GIVE A VERY
BRIEF OVERVIEW OF -- FIRST SO
THAT WE'RE ALL ON THE SAME PAGE.
I'VE SUMMARIZED THE RECENTLY
PUBLISHED FINDINGS AND THEN
FUTURE CONTRIBUTIONS.
MD STAR.
*.
SO AS YOU ARE AWARE *.
BACK IN 2001 THE MD CARE ACT WAS
PASSED AND AT THAT TIME ONE
THING THAT IS FOR CDC TO CREATE
A NATIONAL SURVEILLANCE PROGRAM
FOR MUSCULAR DYSTROPHY.
SO IN 2002 STARTED WITH FUNDING
OF FOUR SITES.
ON MD STAR NET IS A MULTI-SITE
SURVEILLANCE SYSTEM FOR MUSCULAR
DYSTROPHY AND FUNDED BY CDC.
THROUGH ACTIVE SURVEILLANCE WE
IDENTIFY ALL PEOPLE WITH
ELIGIBLE MUSCULAR DYSTROPHIES
WHO SEEK CLINICAL CARE AND
FOLLOW THEM OVER TIME.
THE SOURCES THAT WE USE FOR
IDENTIFYING CASES INCLUDE MU ROW
MUSCULAR CLINICS.
VITAL RECORDS AND HOSPITALS AND
OTHER OUTPATIENT CLINICS.
EACH RECEIVES APPROVAL AND MANY
HAVE PUBLIC HEALTH AUTHORITY TO
CONDUCT SURVEILLANCE FOR
MUSCULAR DYSTROPHY.
THE FUNDED SITES HAVE CHANGED
OVER THE YEARS SO WE STARTED OFF
WITH FOUR.
THE DATA COLLECTION THEN STARTED
WITH -- BECKER AND WE'VE STARTED
DATA COLLECTION FOR OTHER MDs.
SO AS YOU CAN SEE FROM THE MAP
CURRENTLY WE HAVE SEVEN SITES
THAT ARE FUNDED.
SO THERE IS A PART OF FLORIDA
THAT IS FUNDED, OHIO, NORTH
CAROLINA, WESTERN NORTH
CAROLINA, SOUTH CAROLINA.
UTAH AND VIRGINIA.
AND WE USE DATA TO LOOK AT
DISPARITIES AS WELL AS
DIAGNOSIS, HEALTH CARE SERVICE
USE, COMPARISON OF ACTUAL CARE
AND RECOMMENDED CARE.
DISEASE PROGRESSION AND THE
ASSOCIATION OF TREATMENTSES ON
OUTCOMES.
PERFECT CALLLY WE CONDUCT
SURVEYS ON TOPIC THAT'S CANNOT
BE EASILY RESEARCHED USING THE
SURVEILLANCE DATA.
WE WILL BE FIELDING A SURVEY ON
ADULTS'S EXPERIENCES WITH COVID
AS WELL AS VACCINATION.
PAIN AND FATIGUE AND FREEING
NANCY AND INFERTILITY.
AND SOME OF THE RESULTS ARE WHAT
I WILL BE DISCUSSING NEXT.
SO NOW I'M GOING TO SWITCH OVER
TO SOME OF THE ARTICLES THAT
HAVE BEEN PUBLISHED WITHIN THE
PAST SIX MONTHS.
THIS ARTICLE RECENTLY PUBLISHED
IN MARCH AND THIS UPDATED THE
2009 PAPER THAT DESCRIBED THE
DIAGNOSTIC MILESTONES AND
AVERAGE AGE OF DIAGNOSIS IN
PATIENTS WITH DMD.
AND THIS STUDY WAS DONE IN A
COHORT OR OF MALES WHO WERE BORN
BETWEEN 2000 AND 2015.
AND LIKE THE PREVIOUS STUDY IT
LOOKED AT THE MILESTONES AND THE
MEAN AGES AT REACHING THOSE
MILESTONES.
FIRST SIGNS AND SYMPTOMS 2.7
YEARS.
FIRST CREATINE WAS 4.6.
DIAGNOSTIC WAS 4.9 YEARS.
THERE WAS AN AVERAGE TIME OF 2.2
YEARS AND THE MOST NOTABLE THING
IS THERE HAS NOT BEEN A CHANGE.
NO SIGNIFICANT DIFFERENCES OVER
TIMES IN WHICH THESE MILESTONES
HAVE BEEN REACHED SO
HIGHLIGHTING THAT WE NEED TO DO
MORE WORK ON EARLIER DIAGNOSIS.
NEXT SLIDE PLEASE.
SO THIS IS ANOTHER ARTICLE THAT
JUST CAME OUT.
INVESTIGATORS IDENTIFIED THE SUB
PHENOTYPES.
THEY ANALYZED A COHORT OF 268
MALES --
[ AUDIO DIFFICULTIES ]
USING THE VARIABLES THAT ARE
LISTED HERE.
THE VARIABLES THAT THEY USED
WERE THE AGE AT LAST AMBULATION.
SUM OF -- SYMPTOM ONSET.
AND THEN THEY ELSE DETERMINED
THE SEVERITY LOOKING AT CARDIO
MYOPATHY ONSET.
AND ALSO INCORPORATING CORTICO
STEROID TREATMENTS.
FROM THESE VARIABLES FOUR SUB
PHENOTYPIC CLUSTERS WERE
IDENTIFIED.
WITH A MEAN AGE OF LOSS OF
AMBULATION BETWEEN 11 AND 9.4%
OF THOSE WERE STILL AM BUY
LATING.
-- ABOUT 90% WERE STILL * LIVING
AND THE MEAN AGE WAS 13.3 YEARS.
IN THE BLUE BOX IS THE CLASSICAL
DMD AND THEY ALSO HAD A MEAN AGE
OF LOSS OF AMBULATION OF LESS
THAN 11.
1% WAS STILL AM BUY LATING AS OF
THE LAST CLINIC VISIT.
66% OF THOSE WERE STILL LIVING.
THEY HAD LATER AGES AT DEATH AND
ON SET OF CARDIO MYOPATHY AND
INITIATION OF VENTILATION THAN
THE SEVERE GROUP.
THEN GOING DOWN TO THE GREEN
THIS WAS THE LATE AMBULATORY
GROUP AND THESE PATIENTS HAD
LATER AGES WHEN THEY STOPPED
AMBULATING.
30% WERE STILL AMBULATING.
THEY HAD EARLIER SYMPTOM ON SET.
HOWEVER 82.3% WERE STILL LIVING.
AND IS YOU MIGHT IMAGINE WAS THE
GROUP THAT HAD THE HIGHEST
PERCENTAGE OF CORTICO STEROID
USERS.
LASTLY THE CLINICAL BMD.
THEY HAD LATER AGES AT LOSS OF
AMBULATION AND 92% WAS STILL
AMBULATING AND ALL OF THE
INDIVIDUALS ARE STILL LIVING
WITH THE MEAN AGE OF 22 YEARS.
NEXT SLIDE PLEASE.
SO THIS IS ONE OF THE ARTICLES
THAT HAS COME OUT OF THE SURVEY
DATA.
AND SO THIS WAS A SURVEY THAT
WAS DONE I THINK BACK I 2011-12.
WE WERE REALLY TRYING TO
DETERMINE THE MEDICAL KNOWLEDGE,
HOW INDEPENDENT THIS GROUP WAS.
HOW THE PERCENTAGE WHO WERE
EMPLOYED AND LOOKED AT THEIR
RELATIONSHIPS.
OF 60 MALES THAT WERE IN THE
STUDY YOU CAN SEE THE VARYING
PERCENTAGE HERE OF THOSE THAT
WERE INDEPENDENT.
SO AS YOU CAN SEE THE GROUP THAT
IS HAD BECKERS WAS MORE
INDEPENDENT THAN THOSE WERE WITH
-- THOSE WITH BECKERS HAD A
HIGHER PERCENTAGE --
[ AUDIO DIFFICULTIES ]
WITHOUT SUPERVISION AS WELL AS
PERFORMING TASKS OF DAILY
LIVING.
AND THEY ALWAYS WERE --
MEDICATIONS IN 67% AND THERE WAS
A SIMILAR PERCENTAGE WHO HAD
EXPERIENCED -- ROMANTIC
RELATIONSHIPS.
WHAT THIS STUDY HIGHLIGHTED WAS
THE NEED FOR RESEARCH INTO THE
BARRIERS AND FACILITATORS OF
INDEPENDENCE IN MEN WITH
MUSCULAR DYSTROPHY.
NEXT SLIDE, PLEASE.
THIS NEXT ARTICLE ESTIMATED THE
PRODUCTIVITY COST OF A PARENT
CARING FOR A MALE WITH MUSCULAR
DYSTROPHY -- AND THIS WAS
PUBLISHED LAST FALL.
IT COMPARED DATA FROM THE SURVEY
-- FROM THE CURRENT POPULATION
SURVEY AND MATCHED ON THE STATE,
THE YEAR OF THE SURVEY,
RESPONDENT'S AGE, THE CHILD'S
AGE AND NUMBER OF MINOR CHILDREN
AND WHAT THE STUDY FOUND WAS
THAT CAREGIVERS OF BOYS WITH
DMMD WERE APPROXIMATELY 300
FEWER HOURS A YEAR CORRESPONDING
TO ABOUT A $9,000 LOSS IN
PREDICTED EARNINGS.
CAREGIVERS -- OF MORE THAN FOUR
YEARS OF AMBULATION LOSS WERE
LESS LIKELY TO WORK.
CAREGIVERS WHO LOST AMBULATION
WERE 48% LESS LIKELY TO WORK
THAN CAREGIVERS OF THOSE STILL
AMBULATING.
THE ANNUAL LOSS -- WAS ABOUT
$24,000 AND IT WAS $13,828 FOR
CAREGIVERS OF BOYS WITH LESS
THAN FOUR YEARS OF AMBULATION
LOSS.
THIS HIGHLIGHTS -- ONE OF THE
BENEFITS -- IS TO REALLY TRY TO
PROLONG AMBULATION AND ALSO
PROVIDE SUPPORTERS FOR
CAREGIVERS.
THE NEXT ARTICLE EXAMINED
ASSOCIATIONS BETWEEN CLINICAL
PREDICTORS, THEY ANALYZED THE
CURVATURE .
THE AFTERNOON MAXIMUM CURVE WAS
25 DEGREES AND 42.8 DEGREES
AMONG THOSE RECOMMENDED FOR
SURGERY.
OTHERS FOUND A HIGHER ADJUSTED
HAZARD RATIO FOR INDIVIDUALS WHO
HAD LOST AMBULATION WHO DID NOT
USE CORTICO STEROIDS AND THEN
AFTER LOSING AMBULATION.
THEY ARE MORE THAN TWICE AS
LIKELY TO UNDERGO SPINAL SURGERY
FOR SCOLIOSIS.
CORTICO STEROIDS MAY DELAY
SPINAL CURVATURE PROGRESSION.
SO THE OBJECTIVE OF THIS ARTICLE
WAS TO EVALUATE WHETHER CORTICO
STEROID TREATMENT IS BENEFIT FOR
CARDIAC OR PULMONARY FUNCTIONS
A. INVESTIGATORS ANALYZED THE
ASSOCIATION --
[ AUDIO DIFFICULTIES ]
YOU CAN SEE THE NUMBER OF
INDIVIDUALS IN EACH CART
CO-STEROID GROUP.
THIS STUDY FOUND NO DIFFERENCE
IN THE AGE -- BY CORTICO STEROID
USE GROUPS.
HOWEVER THERE WAS A DIFFERENCE
AT FIRST ABNORMAL PPFEC IN MALES
TREATED MORE THAN A YEAR AFTER
LOSS OF AMBULATION.
AND ON THE CARDIAC FINDING THE
AUTHORS HAD PROPOSED THAT THE
SHORTER TIME FROM LOSS TO
AMBULATION TOGETHER ON SET OF
ABNORMAL LEFT VENTRICULAR
FUNCTION FOR BOYS WHOM STEROID
TREATMENT CONTINUED BEYOND --
LIKELY REFLECTS THE --
[ INDISCERNIBLE ]
LOSS OF AMBULATION AND ON SET OF
ABNORMAL LEFT CONVENIENT TRICK R
-- VENTRICULAR FUNCTION.
-- THE ASSOCIATION BETWEEN
GLUCOCORTICOIDS AND ALL CAUSE
MORTALITY.
MEDIAN SURVIVAL TIME WAS 23.7
YEARS.
AFTER LOSS OF AMBULATION --
USERS HAD LOWER RISK OF DEATH
THAN NONUSERS.
WE DO HAVE PLANS TO SHARE MORE
ABOUT THE FINDINGS THROUGH
VARIOUS CHANNELS OVER THE NEXT
FEW WEEKS.
NEXT SLIDE PLEASE.
AS YOU MAY HAVE NOTICED THESE
RECENT PUBLICATIONS ARE
PRIMARILY ABOUT MUSCULAR
DYSTROPHY.
HOWEVER SEVERAL PROJECTS USING
DATA ON OTHER TYPES OF MUSCULAR
DYSTROPHY ARE IN VARIOUS PHASES
OF DEVELOPMENT.
AND SOME OF THE KEY PROJECTS
INCLUDE -- DYSTROPHY -- THAT
LOOKS AT VARIOUS CLUSTERS AND
THE TYPES OF SYMPTOMS THAT WE
HAVE IN EACH ONE.
THERE IS -- EPIDEMIOLOGY AND
DIAGNOSIS IN -- DISTAL MUSCULAR
DYSTROPHY.
LOOKING AT SOME OF THE --
VARIANTS ALSO WITHIN THE
MUTATIONS OR WITHIN THE GENES.
THERE IS ALSO A RESPIRATORY
FUNCTION, EVALUATION AND
OUTCOMES PAPERS BEING DEVELOPED
FOR -- DM AND FSHD.
ANOTHER ONE THAT IS UNDERWAY AS
WELL.
AND THEN WHAT WE'RE GOING TO BE
LOOKING AT SHORTLY WITH DATA
THAT IS GOING TO BE COMING OUT
THIS YEAR IS PREVALENCE IN
SURVIVAL BY MUSCULAR DYSTROPHY
TYPE SO THAT WOULD BE MY TONIC
DYSTROPHY, FSHD.
-- -- AND WE'LL ALSO UPDATE *
UPDATE NUMBERS IN A COUPLE OF
YEARS.
AND A NOTE ABOUT THAT PREVALENCE
IS THAT WE DO RECOGNIZE THAT
THIS IS GOING TO BE A CLINICAL
PREVALENCE SO IT WILL BE A
CONSERVATIVE ESTIMATE AND THAT
WILL BE ADDRESSED WITHIN THE
PAPERS WHEN THEY COME OUT.
SO I THINK THAT IS ALL I HAVE.
SO NEXT SLIDE, PLEASE.
ANY QUESTIONS?
>> VERY NICE, NATALIE.
THANK YOU SO MUCH.
7
>> YOU'RE WELCOMED.
>> I DON'T SEE QUESTIONS IN THE
CHAT BOX.
IT WAS A GREAT PRESENTATION.
I THINK WE'RE HEARING FROM
MULTIPLE DIFFERENT ROUNDS.
>> I WANT TO THANK YOU FOR THE
UPDATE.
NEXT WE'RE GOING TO INTRODUCE
AND WELCOME THREE MEMBERS OUR
NEW MEMBERS AND WE'RE GOING TO
INVITE THEM TO BRIEFLY TELL
ABOUT THEMSELVES AND THE
ORGANIZATIONS THAT THEY
REPRESENT.
SO FIRST UP IS DENISE MYLER
WHO'S REPRESENTING THE IDAHO
CAREGIVERS ALLIANCE AND THE
IDAHO STATE INDEPENDENT LIVING
COUNCIL.
WELCOME, DENISE AND I DON'T SEE
YOUR VIDEO ON.
SO -- THERE YOU ARE.
GREAT.
WELCOME.
>> THANK YOU, DIANA.
IT'S -- GOING TO BE FUN TO BE
PART OF THIS GROUP.
I'VE LEARNED A LOT ALREADY.
I LIVE IN EASTERN IDAHO.
TO GIVE YOU A LITTLE GEOGRAPHY
I'M ABOUT 90 MINUTES TO
YELLOWSTONE AND I'M A FOUR HOUR
DRIVE SOUTH TO SALT LAKE CITY.
I WAS BORN WITH CLUB FEET.
AND A NEUROMUSCULAR PROBLEM.
THE CLUB FEET CAUSED THE DOCTORS
TO SLOWLY PULL MY FEET OUT WITH
CASTS FOR THE FIRST YEAR OF MY
LIFE.
AS I STARTED TO STAND AND WALK I
STARTED TO SEVERAL A LOWER CURVE
AND I HAD A TWO INCH DIFFERENCE
BETWEEN MY LEFT LEG AND MY RIGHT
LEG.
THE DOCTORS TRIED TO DO A CATH
BIOPSY TO DETERMINE EXACTLY MY
NEUROLOGICAL DISABILITY.
BUT WERE UNABLE TO GET ANY CLEAR
EVIDENCE
THEN THEY TRIED TO OPERATE ON MY
RIGHT KNEE TO TRY TO EQUAL OUT
THE LENGTH OF MY LEGS AND MISSED
IT BY JUST A LITTLE BIT.
IT WASN'T UNTIL I WAS 60 YEARS
OLD I'M NOW 64 SO ETC. ADJUST
BEEN WITHIN THE LAST FOUR YEARS
THAT I'VE GOTTEN MY DIAGNOSIS OF
HAVING LIMB GIRDLE MUSCULAR
DYSTROPHY.
AND I USE EITHER A POWER
WHEELCHAIR OR A WALKER TO HELP
MY MOBILITY BECAUSE WHEN I WALK
I HAVE A SWAYING GAIT AND I AM
GLAD TO KNOW THE TYPE OF
MUSCULAR DYSTROPHY I'VE GOT SO I
CAN MAKE PLANS FOR MY FUTURE.
I'VE BEEN A DISABLED ADVOCATE
SINCE 1990 AND I'VE BEEN
INVOLVED WITH A WIDE VARIETY OF
ORGANIZATIONS SOME WITH
TRANSPORTATION STATEWIDE.
MY LOCAL CENTER FOR INDEPENDENT
LIVING.
AND I'M JUST WRAPPING UP MY TERM
ON IDAHO STATE INDEPENDENT
LIVING COUNCIL AND I'VE GOTTEN
INVOLVED WITH THE IDAHO
CAREGIVERS ALLIANCE AND THE
AGING AND DISABLED RESOURCE
CENTER.
THE ALZHEIMER'S DISEASE AND
RELATED DEMENTIA AND THE
CONSORTIUM FOR IDAHOANS WITH
DISABILITIES.
LET ME TELL YOU MORE ABOUT THE
ADULT CAREGIVERS ALLIANCE.
A COALITION OF INDIVIDUALS AND
ORGANIZATIONS FOCUSED ON
EXPANDING THE OPPORTUNITIES OF
RESPID ACROSS THE LIFE-SPAN AND
TO A ADVANCE THE WELL-BEING OF
CAREGIVERS BY PROMOTING
COLLABORATION THAT IT IMPROVES
ACCESS TO QUALITY SUPPORTS AND
SERVICES.
ONE
MAJOR PROJECTS OF THE IDAHO CARE
GIVER ALLIANCE IS WHAT WE CALL A
FAMILY NAVIGATOR, FAMILY CARE
GIVER NAVIGATOR AND WHAT THAT
DOES IS WE DO AN ASSESS MEANT OF
A CARE GIVER THAT IS HAVING
PROBLEMS AND THEN WE BUILD A
CARE PLAN THAT HELPS THAT CARE
GIVER HAVE OTHER RESOURCES OTHER
SERVICES THEY CAN CONTACT AND WE
HELP MAKE THOSE CONTACTS WITH
THEM.
AND THE PROGRAM STARTED IN BOISE
AND IS NOW EXPANDING INTO
EASTERN IDEA.
AND THEN THE IDAHO STATE
INDEPENDENT LIVING COUNCIL IS
ACROSS DISABILITY ORGANIZATIONS.
IT'S RAN BY PEOPLE WITH
DISABILITIES.
AND WE WORK ON DISABLED ISSUES
SUCH AS EQUAL ACCESS -- TO JOBS
-- HOUSING -- HEALTH CARE -- WE
WORK ON SYSTEMATIC CHANGES IN
PROGRAMS FROM HUD TO HHS TO
LABOR, EDUCATION.
AND PROBABLY ONE OF THE BIG
THINGS THAT THE SILK HAS BEEN
ABLE TO ACCOMPLISH IS WE GOT A
TABLE A SEAT AT THE EMERGENCY
MANAGEMENT TABLE AND WHEN COVID
HIT BEING AT THAT TABLE PROVED
TO BE A BIG BLESSING BECAUSE WE
WERE ABLE TO TELL THE EMERGENCY
MANAGEMENT AND OTHER RESULTED
GROUPS THIS IS WHAT HAPPENS IN
THE DISABILITY COMMUNITY.
AND ONE OF THE FOCUSES FOR THE
FUTURE OF SILK IS IN IDAHO WE
HAVE A HORRID HOUSING CRISIS AND
A DIRECTION CARE WORKFORCE
CRISIS AND THEY ARE SO
INTERUPTED THAINTEREST-- INTERUPTED -- IT' S TIME TO
UNWIND THEM AND GET SOME HELP.
THANK YOU, DIANE
>> THANK YOU, DENISE FOR YOUR
PERSONAL AND LIVED EXPERIENCE.
I'M JUST CURIOUS.
HOW MUCH DO YOU THINK THE DELAY
IN YOUR DIAGNOSIS WAS RELATED TO
YOU LIVING IN A RELATIVELY RURAL
OR UNDERSERVED AREA?
IF YOU LIVED IN A MORE OF A
METROPOLITAN AREA YOU WOULD HAVE
HAVE BEEN DIAGNOSED EARLIER?
>> NO.
BECAUSE I SPENT A WEEK WITHIN
WHEN I WAS 10 YEARS OLD AT THE
UNIVERSITY OF UTAH WHICH IS THE
MDA CLINIC IS THAT I GO TO AND
THAT WAS IN ABOUT '68.
AND THEY COULD NOT EVEN SPENDING
A WEEK THERE AND POKING AND
PRODDING AND WHATEVER THEY STILL
HAD TROUBLES COMING UP WITH IT
SO I THINK PART OF THE PROBLEM
OF WHY IT TOOK SO LONG TO GET MY
DIAGNOSIS WAS THE MEDICINE AT
THE TIME IN THE '60s WAS NOT
SOPHISTICATED ENOUGH TO
DISTINGUISH THE EXACT AND KIND
OF NEUROMUSCULAR PROBLEMS THAT I
HAD.
>> INTERESTING
OTHER QUESTIONS?
>> A FOLLOW-UP QUESTION TO
YOURS.
IN THE LAST 10 YEARS WERE YOU
SEEKING FOR YOUR DIAGNOSIS AND
HOW IT WAS THAT WHEN WE HAVE
MUCH MORE TECHNICAL
OPPORTUNITIES FOR DIAGNOSING OR
WERE YOU NOT SEEKING IN THE LAST
10 YEARS?
>> I'VE BEEN SEEKING FOR A
DIAGNOSIS MY WHOLE LIFE SO WHEN
I WAS ABLE TO GET ONE OF MY
DOCTORS HERE IN IDAHO FALLS DID
A TEST ON MY LEGS AND HE WENT --
SOMETHING IS NOT KOSHER.
SO HE SENT ME TO THE MDA CLINIC.
AND I HAVE BEEN TALKING WITH
DR. MARK BRAMBERG AND HE WAS THE
ONE THAT ABOUT THE SECOND TIME
WE MET SAID THAT I HAD THE LIMB
GIRDLE AFTER HE DID SOME
ADDITIONAL TESTING.
SO IT WAS REALLY -- IT'S BEEN
REALLY GOOD TO HAVE THAT
INFORMATION.
BECAUSE I USE THAT INFORMATION
TO THEN SAY OKAY.
HERE IS MY BASE.
I'VE GOT LIMB GIRDLE MUSCULAR
DYSTROPHY AND THEN START
STACKING EVERYTHING ON TOP OF
THAT AND SO BEES ABLE TO SAY
WELL IT'S NOT YOUR MUSCULAR
DYSTROPHY SO WE'LL RULE THAT OUT
HAS MADE IT EASIER FOR ME TO
WORK WITH MY DOCTORS IN THE TYPE
OF HEALTH CARE AND OTHER THINGS
I NEED.
>> WOULD YOU -- MEDICALLY
TESTED?
>> IT WAS A LIMITED GENETIC
TEST.
THE MORE ACCURATE OR SPECIFIC
GENETIC TESTING IS NOT
AFFORDABLE BECAUSE MY INSURANCE
I'M ON MEDICARE AND MEDICAID AND
THEY WON'T PAY FOR IT
>> I THINK JANE -- -- FOUNDATION
--
>> THEY ARE NO LONGER DOING
GENETIC TESTING.
IN MUSCULAR DYSTROPHY.
BECAUSE THAT WAS ONE OF THE
OTHER TESTS THAT WE HAD WAND TO
DO AND --
>> I TALKED -- LIMB GIRDLE
DISEASES -- DOES ANYONE ON THE
PANEL KNOW WHAT I'M TALKING
ABOUT?
OKAY.
I'LL LOOK INTO IT.
THANK YOU.
>> DONOVAN HAS SUBJECTED INVITA.
THAT THEY ARE DOING TESTING FOR
FREE.
>> THANK YOU, DONOVAN.
I WILL MENTION THAT TO
DR. BRAMBERG WHEN WE MEET NEXT
MONTH
>> AND ANDREA CLIVE HAS ALSO
CONFIRMED THAT.
THAT WOULD BE SOMETHING TO
PURSUE.
THE OTHER THING I WAS THINKING
ABOUT IS ALL OF US BECAUSE WE
WOULD GET FREE SEQUENCING WITH
ALL OF US BUT THEY ARE MUCH MORE
INTERESTED BECAUSE OF
THERAPEUTIC IMPLICATIONS.
I WOULD DEFINITELY START WITH
THEM.
>> -- A POINT OF JUST TO ADD A
COMMENT -- I THINK THERE IS A
LOT OF MISDIAGNOSIS US NOT A LOT
-- BUT NOT UNCOMMON THAT
SOMEBODY WITH LIMB GIRDLE IS
ALSO -- -- -- WHAT IS AN ISSUE
IS WHEN THE -- MATERIALS GET
INTO THE REGISTRIES AND THEY ARE
MISS CHARACTERIZED -- -- ---AND
THE CELL LINES -- -- AND SO TO
IMAGINE THAT -- PEOPLE ARE
ACCESSING MATERIAL FROM THE
REPOSITORIES THAT ARE -- -- --
-- THEY ARE LOOKING AT THE
GENETICS OF THEIR CELL LINES.
THEY WERE NOT LOOKING AT -- ---
---SO OVER THE YEARS I THINK
IT'S ALWAYS IMPORTANT TO
UNDERSTAND HOW IS IT THAT WE
CAME TO THE DETERMINATION THAT
THIS IS -- IS IT GENETICALLY.
METABOLICALLY.
CLINICALLY?
JUST A COMMENT.
BECAUSE I THINK WE CAN REALLY
SLOW DOWN RESEARCH.
THANK YOU.
>> THANK YOU, DAN.
ANDREA KLEIN HAS SAID AND PLEASE
ANDREA FEEL FREE TO COME OFF
MUTE IF YOU WOULD LIKE TO.
YOUR SUBTYPE OF LIMB GIRDLE WILL
HELP GUIDE YOU TO KNOW ABOUT
CARDIAC AND RESPIRATORY MUSCLE
INVOLVEMENT.
AND DONOVAN DECKER HAS ALSO
PROVIDED HIS E-MAIL ADDRESS TO
HELP YOU FACILITATE THE
CONNECTION AND GLEN IS GOING TO
GET THAT TO YOU, DENISE.
>> TERRIFIC.
THANK YOU.
>> AND THEN YOU CAN GIVE US
FOLLOW-UP IF YOU DO GET
SEQUENCING AND THEN HOPEFULLY
YOU'LL FIND OUT A CONFIRMATION
FROM A GENETIC PERSPECTIVE
>> I WILL DO THAT, DIANA.
BECAUSE THAT WOULD BE VERY NICE
TO KNOW.
I'M ALWAYS A SPONGE TRYING TO
GET AS MUCH INFORMATION AS I
CAN.
>> WELL IT SOUNDS LIKE YOU
DIDN'T GET TO THE POINT AND DAN
WAS MAKING THE POINT THAT THERE
WAS CONFUSION -- BUT IT SOUNDS
LIKE YOU DIDN'T GET TO THAT
POINT.
THEY KNEW YOU HAD SOMETHING BUT
NEVER SPECIFIED.
>> CORRECT.
>> OKAY.
WELL AGAIN THANK YOU SO MUCH FOR
SHARING YOUR PERSONAL STORY AND
OUR NEXT NEW MEMBER IS DR. ERIC
WANG WHO'S REPRESENTING THE
MYOTONIC DYSTROPHY FOUNDATION
AND ALSO AN ASSOCIATE PROFESSOR
FOR NEURO GENETICS FROM THE
UNIVERSITY OF FLORIDA.
WELCOME.
>> THANK YOU.
THANK YOU SO MUCH.
SO * I AM HERE TO REPRESENT THE
MYOTONIC DYSTROPHY FOUNDATION
AND IN MY CAPACITY AT THE
UNIVERSITY OF FLORIDA I'M ALSO
DEPARTMENT OF MICROBIOLOGY.
SO I WOULD START OFF WITH SOME
PERSON BACKGROUND ON WHY I STUDY
THIS AND WHY I GOT INVOLVED AND
THAT STARTS WITH -- THIS IS A
PICTURE OF ME AND MY DAD WHEN I
THINK WE HAD RETURNED FROM A
TRIP BACK TO TAIWAN WHERE MY
GRANDPARENTS LIVE AND IT LETS ME
-- THE KID -- AND MY DAD WAS
VERY HEALTHY AND A VERY STRONG
GUY.
VERY SHARP GUY AND WHEN I WAS
AROUND 8 HE ENDED UP GETTING A
DIAGNOSED WITH MYOTONIC
DYSTROPHY.
EXPERIENCING PROBLEMS WITH HIS
HANDS WHERE HE WOULD USE A
HAMMER OR GRAB ON TO SOMETHING
TIGHTLY AND COULD NOT LET GO
EASILY AND THAT IS THE SYMPTOM.
AND THAT CAUSED HIM TO GET A
DIAGNOSIS AND IN 89 WHICH WAS
BEFORE THE GENE WAS FORMALLY
DISCOVERED SO HIS DIAGNOSES WAS
DONE BY A MUSCLE BIOPSY AND
CLINICAL EXAM.
SO I'VE WATCHED THE DISEASE
PROGRESS OVER MANY YEARS.
IT'S A HIGHLY MULTI-SYSTEMATIC
DISEASE.
AFFECTING NOT JUST THE SKELETAL
MUSCLE BUT ALSO THE CARDIAC
MUSCLE AND THE CNS AND A NUMBER
OF OTHER TISSUES.
THIS IS ME AND MY WIFE AND
PARENTS -- A FEW YEARS AGO NOW
HERE IN FLORIDA.
AND YOU CAN APPRECIATE MY DAD
HAS GOT A LOT WEAKER.
HE HAS A CARDIO DEFIBRILLATOR TO
DEAL WITH THE ARRHYTHMIAS THAT
CAN HAPPEN.
AND I WOULD SAY THAT AMONG MANY
OTHER -- PATIENTS -- HIS CNS
ASPECTS -- HE IS EXTREMELY
SHARP.
SO THEY MAY NOT AFFECTED HIM AS
MUCH THROUGH THE A LOT OF HIS
ADULTHOOD BUT HE DEFINITELY
DEALS WITH A LOT OF THE FATIGUE
AND THE HYPER SOMNIA.
AND EVEN BRAIN FOG THAT COMES
ALONG WITH THIS DISEASE.
SO THIS IS RECENTLY BUT IN
BETWEEN THEM I HAD GONE TO
COLLEGE AT HARVARD AND THEN
DECIDED TO WORK IN A RESEARCH
LAB AFTERWARDS.
I WORKED ON SOME SCIENTIFIC
TOPICS UNREPRESENTED.
I WANTED TO GET INVOLVED IN
RESEARCH AFTER COLLEGE.
I APPLIED TO MEDICAL SCHOOL AND
ALMOST WENT TO MEDICAL SCHOOL
BUT GOT SUCKED INTO BASIC
SCIENCE RESEARCH AND APPLIED TO
THE HARVARD PROGRAM AND MY TWO
MENTORS WERE DAVID HOUSE MAN AND
CHRIS BERGE.
AND DAVID HAD DISCOVERED THE
GEN--GENE AND I FIRST MET DAN PEREZ
THROUGH DAVID'S HST160 CLASS.
I WAS IN THE AUDIENCE.
AND THIS WAS BACK IN
MID-2000s.
AND THEN CHRIS BURGE WAS AN
EXPERT IN COMPUTATIONAL BIOLOGY
WHO HELPED REALLY TEACH ME ABOUT
THE VALUE OF BASIC SCIENCE AND
HOW IT CAN TEACH YOU ABOUT HOW
THE SYSTEM WORKS SO THAT YOU CAN
LEVERAGE THAT TO MORE
EFFECTIVELY DEVELOP
THERAPEUTICS.
I WAS FORTUNATE TO GET AN NIH
DIRECTOR'S EARLY INDEPENDENCE
AWARD.
THAT WAS FUNDED BY NINDS.
JOHN PORTER WAS MY PROGRAM
OFFICER BACK THEN AND THAT
ALLOWED ME TO START MY LAB AS A
RESEARCH FELLOW FOR CANCER
RESEARCH.
IN 2015 I ENDED UP MOVING MY LAB
TO THE UNIVERSITY OF FLORIDA
BECAUSE I WANTED TO WORK MORE
CLOSELY WITH OTHER SCIENTISTS
AND OFFERS THAT WERE STUDYING MY
TONIC DYSTROPHY.
*.
-- AND ALSO HAVE THE ABILITY TO
BE CLOSE TO WHERE CLINICAL
TRIALS WERE BEING DONE.
AND ALSO CLOSE TO A VERY ROBUST
PATIENT COMMUNITY LOCALLY.
AND SO, ITS BEEN ABOUT SEVEN
YEARS NOW SINCE I'VE BEEN HERE.
AND I'VE GROWN MY LAB.
VERY EXCITED EVERY DAY TO COME
INTO THE LAB AND MAKE -- AND DO
BOTH BASIC AND TRANSLATIONAL
RESEARCH.
IN THE INTERIM I'VE WORKED
CLOSELY -- AND EARLIER THIS YEAR
I BECAME A SIGN AT THISIC
ADVISORY BOARD MEMBER FOR THE
FOUNDATION AND HAVE BEEN ABLE TO
WORK TOGETHER WITH DIFFERENT
DRUG COMPANIES HOPING TO DEVELOP
TREATMENTS FOR DM AND OTHER
DISEASES AND ALSO HAVE BEEN ABLE
TO INVENT APPROACH THAT'S ARE
BEING ACTIVELY FURTHER DEVELOPED
BY COMPANIES.
AND I'M JUST A BRIEF PLUG.
I KNOW CHRIS IS GOING TO PRESENT
NEXT BUT TOGETHER WITH CHRIS AND
OTHER COLLEAGUES AT MIT AND
HARVARD WE PUT TOGETHER
FUND-RAISING AND AWARENESS
EVENT.
S.
WE DID A FEW OF THESE IN BOSTON
AND THERE IS TALK ABOUT REVIVING
THIS AS WELL GIVEN CHRIS'S ROLE
AT MDA AND WE WERE ABLE TO FUND
A COUPLE OF FELLOWSHIPS FOCUSED
ON MUSCLE DISEASE RESEARCH.
AND SO I FIGURED I WOULD DO A
BRIEF OVERVIEW OF SOME OF THE
TOPIC THAT'S WE STUDY IN THE
LAB.
THERE ARE THREE AREAS THAT WE
FOCUS ON.
USING INFORMATION FROM THESE
AREAS FOR THERAPEUTIC
DEVELOPMENT.
AND I WON'T GO INTO DETAIL
BECAUSE THIS IS NOT A TALK
FOCUSED ON SCIENCE.
WE'VE TRIED TO UNDERSTAND HOW
MOLECULAR EVENTS IN MYOTONIC
DYSTROPHY LEAD TO DIFFERENT
PHENOTYPES.
ONE IS BETTER UNDERSTANDING THE
PROCESS.
ANOTHER AREA IS UNDERSTANDING
HOW REPEATS SPEND AND HOW THEY
CONNECT TO SPECIFIC SYMPTOMSES
AND PHENOTYPES AND TISSUES.
UNDERSTANDING HOW RNA WHICH IS
THE KEY MESSAGE IN CELLS IS
MOVED AROUND AND PROCESSED AND
MOVED AROUND SO WE USE A VARIETY
OF APPROACHES TO LOOK AT RNAs
IN MUSCLE TO UNDERSTAND HOW
RNAs AND PARTICLES MOVE AROUND
AND THEN WE HAVE A NUMBER OF
APPROACHES THAT ARE FOCUSED ON
USING INSIGHTS TO DEVELOP
THERAPEUTIC MODALITIES INCLUDING
COLLABORATIONS WITH OTHER
INDIVIDUALS -- GENE THERAPY AND
COLLABORATIONS.
AND THEN DEFINITELY AN EYE
TOWARDS THE FUTURE OF GETTING TO
HOW DO YOU MEASURE THERAPEUTIC
OUTCOMES AND HAVING THOSE
BIOMARKERS IN PARTICULAR FOR THE
CNS ARE VERY IMPORTANT.
SO I'LL CLOSE WITH A BRIEF
DESCRIPTION OF THE MYOTONIC
DYSTROPHY FOUNDATION.
THE FOUNDATION IS FOCUSED ON
REALIZING THIS VISION WHERE YOU
WILL HAVE TREATMENTS AND A CURE.
AND THE MISSION IS THREEFOLD.
IT'S REALLY FOCUSED ON THREE
AREAS.
THE FIRST IS COMMUNITY TO
SUPPORT AND CONNECT THE GREATER
COMMUNITY WHICH INVOLVES MANY
DIFFERENT STAKEHOLDERS INCLUDING
PATIENTS, CAREGIVERS AND
RESEARCHERS.
AND DRUG DEVELOPERS.
PROVIDING AND DEVELOPING
RESOURCES FOR CARE.
SO DEALING WITH THE IMMEDIATE
NEEDS OF THE COMMUNITY RIGHT
NOW.
AND THEN THE THIRD FOCUSED ON
TREATMENTS AND CURES.
THE IDEA OF BUILDING AND
SUPPORTING THE INFRASTRUCTURE
THAT IS GOING TO BE REQUIRED TO
GET TO ACTUAL TREATMENTS THAT
WILL MAKE A DIFFERENCE IN
PATIENT'S LIVES.
AND IT'S BEEN EXCITING TO WATCH
THE FOUNDATION FORM AND GET
STARTED.
IT STARTED WHEN I WAS A GRADUATE
STUDENT.
I REMEMBER GOING TO A MEETING IN
ITALY AND INTERACT WITH SOME OF
THE KEY FOUNDERS OF THIS
FOUNDATION AND IT WAS INITIATED
OUT OF A NEED TO GET HELP AND
PROVIDE HELP TO PEOPLE WHO ARE
LIVING WITH THIS DISEASE.
THE FOUNDATION HAS GONE THROUGH
A NUMBER OF ITERATIONS AND
GROWTH AND NAVIGATED A LOT OF
DIFFERENT ISSUES AND CONSIDERS
THAT HAPPEN WITH ANY
ORGANIZATION AS IT GROWS AND
IT'S BEEN EXCITING TO WATCH THAT
PROCESS AND THEN I'VE BEEN
INVOLVED IN A NUMBER OF
CAPACITIES AS A REVIEWER,
FUND-RAISER -- SAB MEMBER AND
COMMUNITY MEMBER.
BUT THROUGHOUT THESE ENDEAVORS
AND RELATIONSHIPS THERE ARE
QUESTIONS THAT I GRAPPLE WITH A
LOT AND ARE SHARED ISSUES THAT
PEOPLE ON THIS CALL THINK ABOUT
OFTEN.
AND THEY ARE ISSUE THAT'S DEAL
WITH THE TRANSIENT NATURE WE
HAVE ON THIS EARTH WHICH IS HOW
DO YOU ALLOCATE YOUR RESOURCES.
DO YOU FOCUS ON BASIC SCIENCE OR
TRANSLATIONAL RESEARCH OR BOTH?
I'VE DEALT WITH THIS IN
DIFFERENT WAYS.
I WAS INVITED TO WRITE AN
ARTICLE.
I DESCRIBE IT AS BOTH ARE PIECES
OF A ROPE THAT ARE BEING PULLED
AGAINST EACH OTHER.
ONE ATTITUDE I'VE COME TO
APPRECIATE IS THAT THEY MIGHT BE
TWO ENDS OF A ROPE BUT HAVE A
PULLEY IN THE MIDDLE.
HOW DO YOU FACILITATE THE
RESEARCH?
YOU HAVE MUSCLE SKELETAL MUSCLE
BUT THERE MIGHT BE OTHER TISSUES
AFFECTED AND HOW DO YOU GAIN
SUPPORT AND BRING NEW PEOPLE IN
WITH THE EXPERTISE NEEDED TO
DEAL WITH AND MAKE PROGRESS IN
THOSE AREAS.
AND THEN FINALLY THIS ECOSYSTEM
THAT IS REQUIRED TO GET TO
TREATMENTS IS QUITE COMPLEX AND
EXTENSIVE.
SO HOW DO YOU BEST SUPPORT THAT
ECOSYSTEM.
WHERE TO PLACE YOUR EFFORTS AND
IT'S NOT AN EASY TASK.
I THINK MANY US ARE THINKING
ABOUT THIS AND DEALING WITH THIS
AND IT'S FANTASTIC TO GO TO
SPEAK TO OTHERS AND ENGAGE WITH
OTHERS THAT ARE ALSO DEALING
WITH THESE ISSUE.
I'LL LEAVE IT AT THAT.
THANK YOU
>> THANK YOU SO MUCH ERIC FOR
DESCRIBING BOTH YOUR PERSONAL
CONNECTION AS WELL AS YOUR
PROFESSIONAL CONNECTION.
AND WE'RE DELIGHTED TO HAVE YOU
AS A MEMBER OF THE COMMITTEE.
THER-- ARE THERE QUESTIONS FOR ERIC?
>> JUST A COMMENT -- EXCELLENT
PRESENTATION.
THANK YOU FOR YOUR BACKGROUND
AND YOUR ENDEAVOUR.
-- RIGHT ON THE MARK IN PURSUING
THE DISEASE AND TRYING TO UNDER
WHAT IS GOING ON WITH THE
DISEASE AND STAYING CLOSE TO
GENETICS AND SITTING AT THE
INTERSECTION OF THE PHENOTYPE
AND TRYING TO RATIONALIZE
RESOURCES -- -- IT WAS A GREAT
PRESENTATION.
THANK YOU.
>> I HAVE TO SAY -- I DON'T KNOW
IF I'VE DIRECTLY SPOKEN TO YOU
EVER BUT I DEFINITELY THINK
ABOUT THE WORK YOU'VE DONE AND
IT'S BEEN VERY INSPIRATIONAL AND
POWERFUL SO THANK YOU FOR THAT.
I THINK ABOUT FHSD OFTEN.
THERE IS A LOT OF PARALLELS
SCIENTIFICALLY SO I HAVE
DEFINITELY BENEFITED FROM
THINKING ABOUT MULTIPLE DISEASES
IN PARALLEL.
>> YOU KNOW IT'S NOT JUST A
MATTER OF THE HEAD OR KNOWLEDGE
OF GENETICS.
YOU -- YOU TALK ABOUT THE HEART
AS WELL AND YOUR FATHER IS
INSPIRATIONAL AND CONTINUES TO
BE THE SOURCE OF PASSION FOR THE
WORK AND I THINK THAT IS WHAT
MAKES THE DIFFERENCE.
AND WE APPRECIATE YOUR
WILLINGNESS TO SHARE THAT WITH
US.
THERE IS SOMETHING IN THE CHAT
BOX.
>> THANK YOU, ANGELA.
I THINK THIS IS PROBABLY A
COMMON THEME ALSO WITH MANY
PEOPLE WORKING ON DISEASES THAT
ARE CLOSE TO THEM AND CERTAINLY
ANGELA GETS THAT AND MANY PEOPLE
GET THAT SO I THINK AN
INTERESTING TOPIC AND IT
PROBABLY COMES UP BUT HOW DO WE
FURTHER LEVERAGE THAT TO HELP
THIS COMMUNITY AND FURTHER
CAPITALIZE ON THAT
>> HOLD THAT THOUGHT AND WE'LL
GET BACK TO THAT AND BRING THAT
UP.
SO NOW OUR LAST AND THIRD MEMBER
IS CHRIS ANSELMO WHO IS FROM THE
MUSCULAR DYSTROPHY ASSOCIATION.
CHRIS IS THE MARKET INTELLIGENCE
MANAGER AT THE NATIONAL HEALTH
CARE PARTNERSHIP TEAM.
I DON'T KNOW IF YOU'RE A DOCTOR
OR NOT.
I DON'T HAVE THAT INFORMATION.
I MADE THE A ESSENTIALS
>> WELCOME, CHRIS.
AND ARE YOU ON?
>> YEP.
>> ARE YOU A DOCTOR I WANT TO BE
CORRECTED
>> I WOULD LIKE TO BE BUT NO.
I'M NOT.
MAYBE FOR TODAY.
I'M CHRIS ANSELMO.
THE DIRECTOR OF MARKET
INTELLIGENCE AT THE MUSCULAR
DYSTROPHY ASSOCIATION AND ALSO A
MEMBER OF THE NEUROMUSCULAR
DISEASE COMMUNITY.
I LIVED WITH -- MUSCULAR
DYSTROPHY TYPE 2B.
JUST A QUICK WORD OF AUCTION.
I'M DOING THIS FROM MY PHONE.
THERE IS A SLIGHT CHANCE THAT I
MIGHT CUT OUT AT SOME POINT
>> WE HEAR YOU CLEARLY.
>> A LITTLE BIT OF BACKGROUND
ABOUT MY JOURNEY.
IT'S KIND OF INTERESTING BECAUSE
I'M 35 NOW.
I LIVE IN CONNECTICUT.
FOR THE FIRST 18 YEARS OF MY
LIFE I DIDN'T EVEN KNOW THAT I
HAD ANY SORT OF MUSCLE
CONDITION.
IT WAS A FLUKE THING.
I WAS IN I A CAR ACCIDENT MY
SENIOR YEAR OF HIGH SCHOOL AND
AT THE HOSPITAL THEY WERE JUST
ABOUT TO DISCHARGE ME AND TAKING
ROUTINE BLOOD TEST AND THE
DOCTOR CAME IN SAYING THAT WE
NEED TO KEEP YOU BECAUSE YOUR
CREATINE LEVELS ARE -- IN THE
THOUSANDS.
SO THEY THOUGHT I SUFFERED SOME
SORT OF INTERNAL INJURY.
THEY DETERMINED THAT I WAS FINE
OUTWARDLY BUT THEY KNEW
SOMETHING WAS OFF.
THAT STARTED ABOUT A YEAR LONG
DIAGNOSTIC JOURNEY WHERE AFTER
SEEING VARIOUS SPECIALISTS AND
HAVING A THIGH BIOPSY THEY WERE
ABLE TO DETERMINE THAT I HAD
SOMETHING WHAT THEY CALLED --
THAT I WAS MISSING THE --
PROTEIN.
THIS WAS 2004 SO THEY KNEW A
LITTLE BIT ABOUT IT BUT NOT TOO
MUCH.
SO OFF TO COLLEGE I WENT.
I FELT FINE.
AND SHORTLY AFTER I GRADUATED
FROM NORTHEASTERN UNIVERSITY IN
2008 I WAS MOVING TO A NEW
APARTMENT AND CARRYING MY DESK
CHAIR AND THINGS WERE MORE
DIFFICULT.
IT WAS THE FIRST SORT OF SYMPTOM
THAT I COULD REMEMBER THAT
ULTIMATELY COULD BE TIED BACK TO
THE DISEASE.
AND ONCE THAT STARTED THAT
REALLY KIND OF ACCELERATED SO I
WENT FROM BEING FAIRLY ATHLETIC
BEING ABLE TO RUN AND JUMP AND
PLAY SPORTS TO WITHIN THREE
YEARS FALLING TO WHERE I AM TO
YOU RIGHT NOW I USE A WHEELCHAIR
FULL-TIME AND THIS HAS IMPACTED
MY CAREER TRAJECTORY.
SO WHEN I GRADUATED I WORKED AT
A FEW DIFFERENT TECH COMPANIES
IN THE BOSTON AREA.
I ENJOYED THAT BUT AS MY DISEASE
PROGRESSED AND THE WEAKNESS
ACCELERATED ALL I COULD THINK
ABOUT WAS MY DISEASE SO I
REALIZED AT SOME POINT THAT IS
WHAT I WANTED TO DO WAS DO
SOMETHING RELATED TO HEALTH CARE
OR MY PARTICULAR CONDITION.
I MIGHT AS WELL MAKE IT INTO A
CAREER BECAUSE OTHERWISE I COULD
NOT FOCUS ON OTHER THINGS.
I QUIT MY JOB.
I WENT TO BUSINESS SCHOOL AND
GRADUATED FROM BOSTON COLLEGE IN
2016.
THAT IS WHEN I MET ERIC.
JUST BY COINCIDENCE I WAS
SCROLLING FACEBOOK AND SAW AN
INVITATION AND I SENT AN E-MAIL
SAYING I WOULD LIKE TO GET
INVOLVED AND HE HAS BEEN A GREAT
FRIEND AND SOMEONE I COULD ASK A
LOT OF QUESTIONS.
HE HAS A RESEARCH BACKGROUND.
I FOUND THAT CONNECT WITH
RESEARCHERS AND CONNECTING WITH
OTHER PATIENTS AND CONNECTING
WITH PEOPLE THAT JUST LIVED IN
THIS WORLD WAS REALLY BENEFICIAL
FOR ME TO BETTER ACCEPT WHAT WAS
GOING ON.
YOU THINK LIFE IS GOING TO GO
ONE WAY BUT IT GOES IN A
DIFFERENT DIRECTION.
AND THAT ULTIMATELY LED ME TO
NBA I JOINED FOUR YEARS AGO BUT
HAD BEEN INVOLVED FOR SEVERAL
YEARS. WAS A FREELANCE WRITER.
NOW I'M PART OF THE NATIONAL
MARKETING TEAM.
AND WITHIN THE LAST COUPLE OF
YEARS I BECAME MORE INTERESTED
IN POLICY -- OBVIOUSLY POLICY
PLAYS AN IMPORTANT ROLE IN ALL
OF OUR LIVES BUT I REALLY
STARTED TO LEARN ABOUT THE
DIFFERENT -- INITIATIVES THAT
IMPACTED PEOPLE WITH MUSCULAR
DYSTROPHY.
AND STARTED TO UNDERSTAND SOME
OF THE DIFFERENT LAWS AND
DIFFERENT TYPES OF THINGS LIKE
THAT THAT DIRECTED OUR LIVES IN
TERMS OF WHETHER IT COULD BE --
SOMETHING THAT COULD BE A
BENEFIT TO US AND JUST BECAME
INTERESTED IN THAT JUST HOW ALL
OF THE DIFFERENT POLICIES AND
LAWS AND ADVOCATING FOR THAT.
EVEN ON A PERSONAL LEVEL.
FINDING ANOTHER PATIENT WITH MY
PARTICULAR DISEASE SO THEY COULD
BE TESTED AND BE A PART OF THE
COMMUNITY.
BECAUSE IT'S INCREDIBLY RARE SO
ALL OF THE PATIENTS THAT WE CAN
FIND THE BETTER.
SO I'M HERE REPRESENTING THE
MUSCULAR DYSTROPHY ASSOCIATION.
I SEE MOST OF YOU PROBABLY KNOW
WHAT MDA IS.
WE'RE THE NATIONAL UMBRELLA
ORGANIZATION COVERING I THINK
NOW IT'S OVER 40 DIFFERENT
MUSCULAR DYSTROPHY DISEASES AND
THERE ARE DOZENS AND DOZENS OF
SUBTYPES AND WE PROVIDE SERVICES
TO OUR COMMUNITY.
WE ADVANCE RESEARCH AND CARE.
WE FUND A LOT OF RESEARCH THAT'S
BUILDING BLOCKS FOR THE
THERAPIES THAT WE RECEIVE TODAY.
WE PROVIDE SERVICES TO OUR
COMMUNITY SUCH AS MDA SUMMER
CAMP.
IT'S A VALUE TO THE CHILDREN AND
THE FAMILIES AND THE
ORGANIZATION.
AND ALSO WE HAVE A VERY STRONG
POLICY AND ADVOCACY TEAM AS
WELL.
AND IN RECENT -- -- I'M THE ONE
KEEPING EVERYONE FROM BREAK TIME
-- WE SE -- PUT ON THE CONFERENCE
IN NASHVILLE IN MARCH.
WE HAD A VIRTUAL CONFERENCE AND
IT IS NICE TO BE ABLE TO CONVENE
AND BRING DIFFERENT STAKEHOLDERS
TOGETHER TO FIGURE OUT WHAT IS
GOING ON IN THE SPACE AND
HITTING CLOSER TO HOME FOR ME
MDA AND OUR PARTNER --
ORGANIZATIONS HELPED TO GET
ICD10 CODES FOR MUSCULAR
DYSTROPHY -- I DON'T KNOW IF
THEY ARE 100% APPROVED YET BUT
THEY ARE CLOSE TO THE FINISH
LINE IN TERMS OF GETTING
APPROVED AND HOPEFULLY
IMPLEMENTED SOON.
BECAUSE SO MAN OTHER US WHEN WE
WERE DIAGNOSED WE WERE BUCKET
INTO THAT OTHER NEUROMUSCULAR
DISEASE CATEGORY AND TO HAVE A
DIAGNOSTIC CODE WOULD HELP TO
IDENTIFY PATIENTS WITH LIMB
GIRDLE -- DIFFERENT SUBTYPES AND
THAT WILL HELP TO ACCELERATE
ADVANCES AND CARE AND TREATMENTS
AS WELL.
SO I'M VERY THANKFUL TO BE PART
OF THE COMMITTEE AND I'M HERE TO
ANSWER QUESTIONS
>> THANK YOU SO MUCH CHRIS FOR
YOUR PERSONAL STORY AND REALLY
HOW IT INFLUENCES THE EVOLUTION
IN YOUR PROFESSIONAL CAREER AS
WELL.
AND REALIZING A LOT OF PEOPLE
HAVE A BOSTON CONNECTION HERE.
I'M IN BETHESDA.
BUT I'M A FULL-TIME
MASSACHUSETTS RESIDENT WHEN I'M
NOT HERE AT THE NIH.
AND IF ERIC WAS A LITTLE OLDER I
MIGHT HAVE TAUGHT HIM IN HIS
FIRST YEAR GENETICS COURSE BUT I
THINK HE IS A LITTLE TOO YOUNG
FOR THAT BECAUSE I LEFT HARVARD
IN 1993.
>> I JUST WANTED TO TELL OUR
THREE NEW MEMBERS HOW MUCH I
THOROUGHLY ENJOYED YOUR
PRESENTATIONS.
THE PERSONAL STORIES.
THEY ARE REALLY COMPELLING AND
--
[ AUDIO DIFFICULTIES ]
THANK YOU FOR JOINING AND I
SHARING.
I ENJOYED IT VERY MUCH.
>> THANK YOU, LINDSEY FOR THAT
COMMENT.
ALSO A COMMENT -- THANKING CHRIS
FOR REPRESENTING MDA SO WELL.
DO WE HAVE QUESTIONS FOR CHRIS?
>> I DON'T SEE ANY BUT MAYBE A
LITTLE BREAK WILL INSPIRE PEOPLE
TO ADD QUESTIONS TO THE CHAT BOX
IF THEY SO DESIRE.
I WANT TO THANK OUR THREE NEW
MEMBERS AS WELL FOR REALLY
PUTTING THE PERSONAL IN THE
STORY THIS IS WHY WE HAVE
SOMETHING CALLED THE VOICE OF
THE PARTICIPANT BECAUSE YOU CAN
INTELLECTUAL LIES BUT THERE IS *
NOTHING ABOUT HEARING ABOUT
SOMEONE'S INDIVIDUAL LIVED
EXPERIENCE WHETHER IT'S THE TIME
IT TOOK TO GET THE DIAGNOSIS OR
THE FACT THAT SOMEBODY HAS
PARTICIPATED IN THERAPY AND IT
HAS HELPED THEM.
IT MAKES A HUGE DIFFERENCE.
ALL THREE OF YOU DO HAVE A
PERSONAL CONNECTION AND WE
APPRECIATE YOU SHARING YOUR
STORIES.
SO WE LOOK FORWARD TO WORKING
WITH YOU OVER THE NEXT FEW
MONTHS AND YEARS.
SO WITH THAT BEING RIGHT ON TIME
WE'RE GOING TO TAKE A SHORT
BREAK AND WE'LL COME BACK AT
3:00.
>> I'D LIKE TO WELCOME EVERYONE
BACK AND THE REST OF THE MANAGES
WILL BE DEVOTED TO PRESENTATIONS
AND DISCUSSIONS ON THE --
SUBJECT OF DRUG REPURPOSING.
THERE ARE MANY EXAMPLES IN
MEDICINE IN WHICH A DRUG
ORIGINALLY DEVELOPED AND
APPROVED FOR ONE CONDITION IS
FOUND TO BE EFFICACIOUS FOR
ANOTHER CONDITION.
BY SEEKING OUT OPPORTUNITIES WE
MAY BE ABLE TO ACCELERATE THE
IDENTIFICATION OF DRUGS FOR
TREATING MUSCULAR DYSTROPHYs.
SO I'M GOIN I'LL -- I'M NOW GOING TO TURN
THE MEETING OVER TO GLEN
NUCKOLLS.
>> THANK YOU.
CAN YOU SEE MY SLIDES OKAY?
IS THAT A YES.
I WANT TO GIVE A BREACH
INTRODUCTION TO THIS SECTION
WHICH IS GOING TO BE
INTERESTING.
DRUG REPURPOSING AS DR. BIANCHI
MENTIONED IS TAKING A DRUG THAT
IS APPROVED FOR ONE CONDITION
AND TESTING IT FOR SAFETY AND
EFFICACY IN OTHER CONDITIONS AND
REASON THIS WORKS IS THAT THERE
SOMETIMES IS A COMMON SET OF
PATHOLOGICAL PROCESSES THAT LIE
DOWNSTREAM OF MANY DIFFERENT
GENE MUTATIONS AND SO THESE
COMMON PATHOLOGIES WHICH MIGHT
INCLUDE ABNORMAL IMMUNE
RESPONSES, FIBROSIS,
MITOCHONDRIAL FALL FUNCTION.
COMPROMISED CELLULAR REPAIR --
CAN CAUSE DIFFERENT CONDITIONS
DEPENDING ON THE TISSUES AND
CELLS THAT ARE AFFECTED.
AND FROM A DRUG DEVELOPMENT
STANDPOINT REPURPOSING HAS SOME
ADVANTAGES.
THIS SLIDE SHOWS THE CLASSIC
PIPELINE OF DRUG DISCOVERY FROM
DISEASE MECHANISMS THROUGH
TARGETS AND PRECLINICAL
DEVELOPMENT THROUGH CLINICAL
TRIALS AND THEN EVEN THEN TO FDA APPROVAL AND
THEN TO PATIENTS.
THIS IS A VALLEY OF DEATH.
THAT IS BECAUSE A LOT OF
DISCOVERIES COME INTO THIS STEPS
AND VERY FEW SAFE AND EFFECTIVE
DRUGS RESULT FROM THE END OF
THIS PIPELINE.
AND SO DRUG DEVELOPMENT -- I
MEAN DRUG REPURPOSING CAN HAVE
AN OPPORTUNITY TO LINK DISEASE
MECHANISMS DIRECTLY TO APPROVED
DRUGS.
IT'S PROBABLY NOT LIKELY THAT
YOU CAN SKIP ALL OF THE STEPS IN
BETWEEN.
THERE MAY BE THE NEED FOR SOME
CHEMICAL MODIFICATION OR
FORMULATION OR ADDITIONAL
PRECLINICAL TESTING BUT DRUG
REPURPOSING CAN KIND OF
STREAMLINE MANY OF THESE STEPS
AND RESULT IN MUCH HIGHER
SUCCESS RATE THAN WHAT IS SEEN
IN REGULAR NEW DRUG DEVELOPMENT.
SO HERE IS A LIST OF CURRENTLY
ACTIVE CLINICAL TRIALS THAT ARE
REPURPOSING DRUGS FOR MUSCULAR
DYSTROPHYs INCLUDING STUDIES
IN -- FHSN AND THERE ARE MORE
STUDIES GOING ON FOR PRECLINICAL
TESTING OF DRUG REPURPOSING AND
ALSO DEPRIORITIZED DRUGS SO
DRUGS THAT ARE BEING DEVELOPED
FOR ONE CONDITION AND FOR SOME
REASON EITHER FAILED IN CLINICAL
TRIALS OR WHATEVER REASON DIDN'T
BECOME APPROVED BUT STILL HAVE A
LOT OF IMPORTANT INFORMATION
WITH THEM AND MAY BE QUITE
EFFECTIVE IN HITTING THEIR
TARGETS AND SAFE IN HUMANS.
SO I WANT TO BRING TO YOUR
ATTENTION A TWO-DAY WORKSHOP
THAT TOOK PLACE IN 2019 AND IT
WAS ORGANIZED BY HEATHER STONE
FROM THE FDA AND SHE IS WITH OUR
MEETING TODAY AND BOBBY FROM
NCATS AND THIS IS FOCUSING ON
REPURPOSE EGG OF OFF PATENT
DRUGS.
THIS SEEMS TO BE THE MOST
DIFFICULT CASE WHEN THERE IS NO
PATENT PROTECTIONS.
THEY TALKED ABOUT REGULATORY
PATHWAYS AND INCENTIVES.
IF YOU'RE IMPLEMENTED IN A
DEEPER DIVE IN THIS TOPIC I
RECOMMEND THAT YOU CHECK OUT THE
VIDEO WHICH IS AVAILABLE AT THE
NIH VIDEO CAST AND THEY HAVE ON
THE NCATS WEBSITE A NICE SUMMARY
OF THE CHALLENGES AND POSSIBLE
SOLUTIONS FOR SOME OF THE
CHALLENGES AND HEATHER IS GOING
TO BE TELLING US ABOUT SOME OF
THE PROGRESS FROM THE
RECOMMENDATIONS OF THAT
WORKSHOP.
SO FOR TODAY'S SESSION WE ONLY
HAVE ABOUT TWO HOURS TO TALK
ABOUT THIS.
BUT WE HAVE SOME REALLY GREAT
PRESENTATIONS FROMLY SWEENEY
FROM THE UNIVERSITY OF FLORIDA.
LIZOTTE UNGER FROM NCATS.
BARBARA GOODMAN AND HEATHER
STONE FROM FDA.
SO WE WILL BE TALKING SOME ABOUT
RESOURCE THAT'S ARE AVAILABLE TO
SUPPORT DRUG REPURPOSING
STUDIES.
MANY OF THE MUSCULAR DYSTROPHY
NIH INSTITUTES WE HAVE A VARIETY
OF EXISTING FUNDING OPPORTUNITY
ANNOUNCEMENTS THAT CAN ALSO BE
USED FOR DRUG REPURPOSING
STUDIES.
THESE INCLUDE STUDIES OF
PRECLINICAL THERAPY DEVELOPMENT
OR OUR CLINICAL TRIAL FUNDING
OPPORTUNITIES.
SO IF ANYONE IS INTERESTED IN
PURSUING THESE FUNDING
OPPORTUNITIES CONTACT ME.
AND I CAN PUT YOU IN CONTACT
WITH THE PROGRAM DIRECTORS FROM
THE OTHER INSTITUTES.
THE GOAL FOR TODAY'S SESSION ARE
TO INCREASE AWARENESS OF THE
PROCESS OF DRUG PREPURPOSING AND
THEN THE OPPORTUNITIES AND THE
CHALLENGES THAT ARE PROPOSED BY
THIS TYPE OF RESEARCH.
AND THEN TO HIGHLIGHT RESOURCES
BOTH FINANCIAL AND SCIENTIFIC
THAT ARE AVAILABLE FOR
PRECLINICAL STUDIES AND REALLY
TO TRY TO ENCOURAGE
PUBLIC/PRIVATE PARTNERSHIPS AND
TO PROMOTE PARTNERSHIPS IN THIS
TYPE REPURPOSING STUDIES.
SO WITH THAT I'LL TURN THE
MEETING BACK OVER TO
DR. BIANCHI.
>> THANK YOU FOR SETTING THE
STAGE FOR THIS SESSION.
OUR FIRST PRESENTINGER IS LEE
SWEENEY FROM THE UNIVERSITY OF
FLORIDA.
AND TITLE IS REPURPOSING DRUGS
FOR THE TREATMENT OF DUCHENNE
MUSCULAR DYSTROPHY
>> THANK YOU.
THANK YOU FOR THE INVITATION.
I WANT TO TALK ABOUT REPURPOSING
FROM THE ACADEMIC STANDPOINT
BECAUSE IT IS SOMETHING THAT MY
LAB IS INVOLVED IN AND HAS BEEN
INVOLVED IN FOR A NUMBER OF
YEARS.
FIRST OF ALL I'LL MAKE A
DISCLOSURE.
I DO CONSULT WITH A NUMBER OF
BIOTECH AND PHARMA COMPANIES BUT
IT SHOULD NOT HAVE ANY IMPACT ON
ANYTHING I'M GOING TO SAY TODAY.
I'M GOING TO TALK ABOUT
SPECIFICALLY DRUGS FOR DUCHENNE
MUSCULAR DYSTROPHY WHICH NEEDS
NO INTRODUCTION TO THIS GROUP.
THESE ARE THE POINTS THAT I WANT
TO MAKE.
THE STEPS INVOLVED AT LEAST IN
OUR EFFORTS IS TO FIRST A FEW
DRUGS THAT ENGAGE A PATHWAY THAT
WE THINK DRIVES COUCHE-TARD
DISEASE IN ANIMAL MODELS AND IN
PATIENTS.
--
>> WE WOULD LIKE TO IDENTIFY THE
APPROPRIATE DISEASE STAGE WHERE
WE WOULD INTERVENE IN PATIENTS
AND POSSIBLE END POINTS TO QUINN
THE DESIGN OF THE DUCHESS OF
CAMBRIDGE TRIAL AND THEN
DEPENDING ON THE DRUG STATISTICS
WE TAKE ONE OF TWO ROUTES.
AS YOU KNOW IF THE DRUG IS
APPROVED FOR A COMMON INDICATION
AS MANY THESE DRUGS ARE THEN THE
POSSIBILITY OF GETTING AN
APPROVAL FOR AN ORPHAN DISEASE
INDICATION IS -- QUITE
ECONOMICALLY APPEALING TO THE
SPONSOR BECAUSE IT EXTENDS THEIR
PATENT PROTECTION.
IF THE DRUG IS OFF PATENT IT'S
MORE DIFFICULT SO WE HAVE TO
RAISE FUNDS TO DO AN ACADEMIC
PROOF OF CONCEPT STUDY AT OUR
INSTITUTION AND THEN IF
NECESSARY AND WANTED FROM THE
DATA WE WOULD THEN TRY TO
FOLLOW-UP WITH THE LARGER STUDY
AND THE GOAL IS TO CONVINCE THE
PRESCRIBERS TO ADOPT THE DRUG AS
PART OF THE STANDARD OF CARE NOT
NECESSARILY TO GET A LABEL
CHANGE FROM THE FDA BECAUSE OF
THE TIME AND EXPENSE INVOLVED IN
THAT BUT AS YOU KNOW PREDNISONE
WAS NEVER APPROVED FOR DUCHENNE
MUSCULAR DYSTROPHY YET IT IS THE
STANDARD OF CARE.
ALTHOUGH -- WAS LATER APPROVED
FOR DUCHENNE MUSCULAR DYSTROPHY.
OUR GOAL IS TO STAY OFF OF THIS
LIST AND THIS IS THE LIST THAT
WAS RECENTLY PUBLISHED FROM I
FORGOT WHAT THE PUBLICATION WAS.
IT'S UP THERE.
BUT AT ANY RATE IT'S THE GROWING
LIST OF DRUGS THAT HAVE FAILED
IN TRIALS FOR DUCHENNE AND THEY
FAIL FOR A VARIETY OF REASONS.
BUT I WOULD LIKE TO POINT OUT
THAT THERE WERE THREE ATTEMPTS
OF DRUG REPURPOSING ON THIS
LIST.
ONE OF WHICH MY LAB WAS HEAVILY
INVOLVED IN AND I'M GOING TO
TALK ABOUT THAT AS AN EXAMPLE.
BUT I WOULD LIKE TO POINT OUT
THAT THE AUTHORS OF THE PAPER
POINT OUT THAT THESE DRUGS
USUALLY FAIL FOR TWO MAJOR
REASONS' ONE IS IN ADD QUIE -- ADEQUACY
OF THE MOST COMMON PRECLINICAL
MODELS NAMELY THE MOUSE ON THE
BACKGROUND.
BUT ALSO MANY PROBLEMS WITH
TRIAL DESIGN.
AND THAT STEMS FROM HAVING TOO
FEW PATIENT ETC. IN THE TRIAL
WHICH CREATES A PROBLEM BECAUSE
OF THE HIGH DISEASE VARIABILITY,
PATIENT TO PATIENT AND ALSO
INAPPROPRIATE END POINTS IN MANY
CASES GIVEN THE MECHANISM OF THE
THERAPEUTIC THAT WAS BEING
LOOKED AT AND SOMETIMES THIS IS
DUE TO INADEQUATE UNDERSTANDING
OF THE DISEASE.
AND SO I WANT TO ADDRESS THE
FACT THAT REPURPOSING REALLY
STARTS WITH A DETAILED
UNDERSTANDING OF THE DISEASE
PATHOGENESIS IN THE HUMAN
PATIENTS AS WELL AS THE DISEASE
PATHOGENESIS IN OUR ANIMAL
MODELS THAT WE'RE GOING TO TRY
TO USE TO VALIDATE THE DESIRE TO
MOVE THE DRUG FORWARD.
TO ADDRESS THE HUMAN SIDE MY
COLLEGES AND I REALIZED THAT WE
NEEDED TO HAVE MORE DETAILED
NATURAL HISTORY SO WE STARTED A
NATURAL HISTORY STUDY THAT WAS
FUNDED BY INITIALLY BY NINDS AND
CONTINUES TO BE FUNDED -- WHICH
WE CALLED THE IMAGING PROJECT TO
REFLECT THE FACT THAT WE LOOK AT
MORE THAN JUST DUCHENNE BUT THE
IDEA WAS NOT ONLY TO DEVELOP A
DATABASE BUT ALSO TO DEVELOP
MRI/MRS AS A BIOMARKER TO GIVE
QUANTITATIVE MEASURES AND TOOLS
FOR CLINICAL TRIAL DEVELOPMENT.
ESPECIALLY TOOLS THAT WOULD GIVE
YOU EARLIER READ OUTS ON DRUG
EFFICACY THAN YOU CAN GET FROM
THE FUNCTIONAL MEASURES ALONE
AND THIS IS TO SHOW YOU THAT
WHAT THE M-R AND THE THIGH
MUSCLES.
DUCHENNE PATIENTS APPEARS AND
THE MOST STRIKING FEATURE IS
THIS PROGRESSIVE REPLACEMENT OF
THE MUSCLE WHICH IS IN DARK GRAY
BY THIS HYPER INTENSE AREA WHICH
IS FAT AS THE MUSCLES BASICALLY
REGENERATION FAILS AS THE
PATIENTS GET OLDER AND THERE IS
TOTAL MUSCLE REPLACEMENT AS THE
DISEASE PROGRESSES AND THIS IS A
FATTY MATRIX BUT THE FIBROSIS
WOULD BE VERY DARK IN THESE
IMAGES AND YOU CAN SEE THE
PROBLEM IS THAT HERE NOW HALLING
THE FATTY IN FILTRATION AND WHAT
WE USE AS A SENTINEL MUSCLE --
BECAUSE IT PROGRESSES RAPIDLY
OVER THE AGE RANGE AND THERE FOR
IS A CANDIDATE FOR A SURROGATE
IN CLINICAL TRIALS.
THERE IS A LOT OF HETEROGENEITY
PATIENT TO PATIENT.
YOU HAVE TO USE LARGE NUMBERS OR
USE THESE SORTS OF TOOLS TO
SELECT A SUBSET OF THE PATIENTS
THAT ARE PROGRESSING AT A
SIMILAR RATE IN ORDER TO PERFORM
NEW TRIALS.
THE REASON THE MUSCLE IS BEING
REPLACED IS THE NORMAL
REGENERATION THAT FOLLOWS --
DEGENERATION BY MUSCLE ENERGY
GOES AWRY IN THIS DISEASE AS IT
DOES IN A NUMBER OF MUSCULAR
DYSTROPHY AND THE INFLAMMATORY
PHASE IS NEVER RESOLVED SO YOU
NEVER PROGRESS TO NORMAL MUSCLE
REPAIR.
IT INVOLVES REPLACEMENT OF THE
CELLS WITH CELLS THAT COME FROM
OTHER STEM CELLS -- THAT CAN
RESULT IN DEPOSITION FIBROSIS
AND FAT.
THERE ARE A NUMBER OF MECHANISMS
THAT ARE AT PLAY HERE.
THAT REALLY PROVIDE THE TARGETS
OTHER THAN REPLACEMENT OF THE
MISSING PROTEIN WHICH IS DESTROY
EN.
* COURT CORD STEROIDS -- THEY
SLOW THE INFLAMMATION AND ALLOW
GENERATION.
SLOWING THE DISEASE.
THE MAJOR PRECLINICAL CHALLENGE
IS TO FIND A MODEL THAT MIMICS
THE HUMAN DISEASE SO WE CAN LOOK
AT DIFFERENT TARGETED PATHWAYSES
PATHWAYSES.
THE PROBLEM ALL OF THESE FACE IS
NONE OF THEM SHOW THE DEGREE OF
FATTY REPLACEMENT THAT WE SEE IN
HUMANS.
-- SO I THINK THE ONLY MODEL
HERE THAT IS REALLY NOT THAT
USEFUL IS THE ONE THAT HAS BEEN
USED THE MOST WHICH IS THE
STANDARD MDX MOUSE.
MANY HAVE A LOT OF THE HALLMARKS
OF THE HUMAN DISEASE THAT
RESULTS IN BASICALLY A
CHESSATION ARE MUSCLE
GENERATION.
THIS IS COMPARING * AND LOOKING
AT PRECLINICAL STUDIES AT THIS
POINT AND I WANT TO RETURN TO
WHAT I SAID ABOUT THE FAILED
STUDY.
THE REASON THAT WE EMBARKED
ABOUT THAT WAS BECAUSE OF THE
FACT THAT IT CAN -- INCREASE
BLOOD FLOW AND BLOOD FLOW
REGULATION IS INAPPROPRIATE IN
THE DUCHENNE PATIENTS BECAUSE
THEY CANNOT INCREASE BLOOD FLOW
DURING EXERCISE.
IT COULD LEAD TO MUSCLE DAMAGE
BUT ALSO THERE ARE EFFECTS
INSIDE THE MUSCLE CELLS
THEMSELVES OF THE -- INHIBITION
WHICH CAN LEAD TO POTENTIALLY
MITOCHONDRIAL FUNCTION.
BUT WHAT THESE IN HIPPORS DO IS
RAISE LEVELS WHICH CAN LEAD TO
PKG ACTIVATIONS AND IT HAS A
NUMBER OF IMPORTANT TARGETS
INCLUDING TRIP C CHANNELS WHICH
ARE NOT REGULATED BOTH IN THE
HEART AND IN THE SKELETAL MUSCLE
AND SILENCING THOSE COULD LEAD
TO A NUMBER OF BENEFITS AND
WITHIN THE VASCULAR SMOOTH
MUSCLE THE INCREASING -- LEVELS
LEADS TO BASAL DILATION AND
BETTER BLOOD FLOW.
NOW THE PRECLINICAL DATA AS WELL
AS HUMAN DATA -- WAS NUMBER ONE
SHOWING THAT THE MICE GIVEN
COULD EXERCISE BETTER.
THEY COULD HAVE REPEAT BOUTS OF
EXCITED WHERE THEY NORMALLY DO
NOT.
IT ALSO PREVENTED FUNCTIONAL US
THEME YA -- * ISCHEMIA -- AND IT
HAD A MUCH EVEN GREATER IMPACT
ON THE HEARTS OF THOSE DOGS
BECAUSE IT IMPROVED BOTH
DIASTOLIC FUNCTION AND DELAYED
THE ON SET OF DISSTOLLIC
FUNCTION.
THE SIX MINUTE WALK TEST.
THE TRIAL HAD TWO DOSES AS WELL
AS A PLACEBO GROUP.
WE HAD IN MIND THAT WE WOULD DO
THE STUDY BUT SINCE THEY HAD
ENOUGH TIME LEFT ON THEIR PATENT
THAT THEY COULD ORGANIZE AND
CONDUCT A STUDY WHICH WOULD GIVE
THEM AN ORPHAN DISEASE
APPLICATION THEY DECIDED THEY
WOULD DO THE STUDY.
AT THE TIME WE WERE DOING THIS
THE SIX MINUTE WALK TEST WAS THE
ONLY OUTCOME MEASURE THAT HAD
BEEN USED SO WE THOUGHT IT
REASONABLE GIVEN THE IMPACT ON
EXERCISE ABILITY BUT THAT SHOWED
A LACK OF UNDERSTANDING OF HOW
THE PATIENTS REALLY CON CONDUCT
THE SIX MINUTE WALK AND IT'S NOT
REALLY A FATIGUE TEST AT ALL.
THEY TAKE A VERY MEASURED PACE
AND REALLY PROBABLY ARE NOT
PUTTING THEIR MUSCLES IN ANY
FUNCTION,S SCHEME WHAT.
* IT COULD BE A FAILURE OF OUR
CHOSEN END POINT OR IT COULD BE
THAT BOYS WERE NOT ACTIVE ENOUGH
WHEN THEY WERE NOT BEING TESTED
TO ACTUALLY HAVE ANY FUNCTIONAL
ISCHEMIA IN THEIR MUSCLES OR IT
COULD BE THAT THE LEVELS WAS TOO
LOW IN THE HUMAN PARENTS VERSUS
THE MICE SO WE'VE GONE BACK TO
LOOK AT THIS BECAUSE THE SUB
STUDIES DID SHOW SOME TRENDS
TOWARD IMPROVED ARM FUNCTION AND
CARDIAC FUNCTION.
7 AND SO WE NOW HAVE HOPE THAT
IN FACT THEY DO HAVE A ADEQUATE
NUMBERS OF PDE5 IN THEIR LEG
MUSCLES SO THAT THE DRUG DOES
OVERCOME FUNCTIONAL ISCHEMIA IN
THE LEGS.
THEY PROBABLY NEVER EXERCISED
ENOUGH TO EXPOSE THE PROBLEM AND
IF WE WANTED AN OUTCOME MEASURE
WE SHOULD HAVE CHOSEN SOMETHING
THAT SHOWED THE DRUG IMPROVED
THEIR ABILITY TO EXERCISE EVEN
THOUGH IT MAY NOT HAVE AFFECTED
THEIR LONG-TERM DISEASE
PROGRESSION.
A CARDIAC MEASURE WOULD BE BEST
BUT DUE TO LIMITATIONS WE DID
NOT GO THAT ROUTE.
I'LL GIVE YOU ONE LAST EXAMPLE.
TRYING TO GO AFTER THE SAME
PATHWAY THAT WE THINK THESE
CORTICO STEROIDS -- MAY EFFECT.
IT FAILS BECAUSE OF THE CROSS
TALK BETWEEN THE VARIOUS
STEM-CELL POPULATIONS AND THE
INFLAMMATORY CELLS THAT DRIVE
REGENERATION BUT ALSO DRIVE --
TO REGENERATION DURING THE
DISEASE AND THE MICROFAUNALS ARE
A BIG PLAYER.
AND THEY CHANGE THE SIGNALS THAT
THEY SECRET WHICH ARE REALLY
IMPORTANT IN TRIGGERING THE FAT
DIFFERENTIATION INTO CELLS THAT
DO NOT ALLOW THE RECOVERY FROM
THE INJURY AS WELL AS THE MAYO
BLAST SIGNALS TO RECOVER FROM
THE INJURY SO YOU GET STUCK IN
THIS INFLAMMATORY PHASE.
THE IDEA IS TO DEVELOP A WAY TO
PUSH THE MACROPHAGES OUT AND
PROMOTE REGENERATION.
WHAT WE'VE CURRENTLY IDENTIFIED
IS A POSSIBLE CANDIDATE FOR DRUG
REPURPOSING OR THE PPAR GAMMA --
RECEPTORS WHICH ARE -- FOR THE
RECEPTOR.
TURNS OUT THAT PPAR DRIVES THE
PROGRESSION AS WELL AS THE
SECRETION OF THE GDF3.
7 THESE DRUGS ARE OFF PATENT SO
WE'RE IN THE PROCESS OF TRYING
TO GENERATE ENOUGH PRECLINICAL
DATA TO GET FUNDS TO DO A SMALL
-- -- PATIENTS TO SHOW THAT IT
WILL BOTH REDUCE FIBROSIS,
DECREASE INFLAMMATION AND
IMPROVE REGENERATION AND
THEREFORE SLOW DISEASE
REGRESSION IN THOSE PATIENTS.
THIS IS THE PATHWAY THAT WE'RE
TAKING.
IT ALL BEGINS WITH HAVING AN
APPROPRIATE UNDERSTANDING OF THE
HUMAN DISEASE AS WELL AS THE
ANIMAL MODELS THAT WILL MODEL
THE KEY ASPECTS OF THE DISEASE
AND THEN THE DRUG STATUS WILL
DETERMINE THE ROUTE THAT WE
ULTIMATELY HAVE TO TAKE WHETHER
WE GO BACK TO THE SPONSOR OR THE
HEAVY LIFTING IS LEFT TO US AND
THE COMMUNITY.
I WANT TO KNOWLEDGE THAT THE
PROJECT GIVES US A LOT OF
SUPPORT TO ALLOW US TO GO AFTER
THESE PRECLINICAL TESTING OF
DRUGS THAT WE DON'T ACTUALLY
HAVE FORMAL GRANT SUPPORT FOR.
AS WELL AS HELPING US RECRUIT
PATIENTS FOR PROOF OF CONCEPT
STUDIES AND OF COURSE OUR
SUPPORT FOR OUR CENTER -- WHICH
ALLOWS US TO DO MUCH OF THE WORK
AND CAN SPIN-OFF INTO OTHER
PROJECTS.
SO I'M SORRY IF I WENT A LITTLE
TOO LONG BUT I'M HAPPY TO TAKE
ANY QUESTIONS.
>> THANK YOU, LEE.
SO WE ARE JUST AT TIME FOR
ELIZABETH'S TALK BUT WE CAN TAKE
ONE QUESTION.
AND YOU DID GIVE A VERY HELPFUL
OVERVIEW.
THANK YOU FOR THAT.
I'M NOT SEEING QUESTIONS.
ANYBODY WANT TO RAISE THEIR
HAND.
SCROLLING THROUGH THE
PARTICIPANTS.
OKAY.
IN THE INTEREST OF KEEPING
PEOPLE ON TIME I'M GOING TO SAY
THANK YOU AND FEEL FREE TO ASK
QUESTIONS IN THE CHAT BOX AND
THEN WE CAN PROBABLY ANSWER THEM
IN WRITING.
SO NEXT WE WOULD LIKE TO WELCOME
DR. ELIZABETH -- OTTINGER.
WHO SPEAKING FROM NCATS.
>> HI, THANK YOU.
WELCOME EVERYBODY.
CAN YOU HEAR ME AND SEE MY
SCREEN?
>> YES.
>> OKAY.
YES.
SO I'M REALLY -- THANK YOU FOR
THIS OPPORTUNITY TO TELL YOU
ABOUT NCATS AND THE RESOURCE
THAT'S WE HAVE.
I'M GOING TO BE FOCUSING ON THE
PRECLINICAL SPACE AND GIVING YOU
AN EXAMPLE.
WE'VE DONE SOME REPURPOSING
PROJECTS AND TRY TO GIVE YOU OUR
PERSPECTIVE OF WHAT WE'VE
ENCOUNTERED.
I CAN TELL YOU A LITTLE BIT
ABOUT MYSELF.
I'VE BEEN AT NCATS ABOUT 12
YEARS.
EVEN BEFORE IT BECAME NCATS.
WHICH STARTED IN 2011 AND I WAS
PREVIOUSLY IN INDUSTRY.
AND JUST BECAUSE WE WERE TALKING
ABOUT BOSTON I DID MY POSTDOC IN
BOSTON.
SO AGAIN THIS IS JUST THE
MISSION OF NCATS
AS YOU HAVE HEARD TODAY DRUG
DEVELOPMENT IS DIFFICULT.
IT'S OFTEN 10-15 YEARS THAT WE
SAY TO GET A DRUG FROM FINDING
IT ALL THE WAY THROUGH ACTUAL
APPROVAL INTO PATIENTS.
AND AGAIN THERE IS USUALLY ABOUT
A 10% SUCCESS RATE AS YOU GO
THROUGH THE PROCESS.
AND I THINK OUR PREVIOUS SPEAKER
FOCUSED ON THE EFFICACY AND THE
CLINICAL HURDLES BUT THERE IS
ALSO EFFICACY AND TOXICITY
HURDLES ESPECIALLY IN THE
PRECLINICAL SPACE.
SO OUR MISSION IS ALSO TO
PROVIDE HEALTH SOLUTIONS AND TO
DO THAT THROUGH THE
TRANSLATIONAL SCIENCE AND TO
SUPPORT A MORE TREATMENTS TO
PATIENTS MORE QUICKLY.
NCATS APPROACH IS THAT WE DO A
LOT -- BASED ON COLLABORATIONS
ON SETTING UP DIFFERENT
PUBLIC/PRIVATE PARTNERSHIPS.
WE WORK WITH BOTH ACADEMICS.
WE WORK WITH OTHER ICs.
OTHER AGENCIES.
ALSO NONPROFITS AND WE WORK WITH
BIOTECH AND ALSO PHARMA.
AND SO WE DO THIS BY TRYING TO
BUILD PLATFORMS.
WE HAVE MANY DIFFERENT
PLATFORMS.
WE BUILD IN ORDER TO SUPPORT THE
TYPE OF PROJECTS IN
COLLABORATIONS THAT WE DO AND
OUR GOAL IS TO DECREASE THE TIME
TO DEVELOP AND GET MORE
THERAPIES FOR MORE DISEASES
FASTER WHICH IS IS A LOT OF US
IS OUR GOAL IN TRANSLATIONAL
SPACE TO REALLY HELP PATIENTS.
THIS IS WHERE I SIT.
IT'S THE DIVISION OF PRECLINICAL
INNOVATION.
SO AGAIN WE'RE NOT A GRANT
FUNDING.
WE DON'T PROVIDE GRANT FUNDING
FOR OUR PROJECTS' WE ACTUALLY
WORK WITH OUR COLLABORATORS AND
SET UP PROJECT TEAMS WHERE WE
WORK TOGETHER TO ACTUALLY
PROGRESS PROJECTS THROUGH THEIR
GOALS.
AND SO AGAIN OUR MISSION IN THE
BRANCH COMES DOWN FROM NCATS AND
WE'RE TRYING TO ADVANCE BOTH
LIKE THE ART OF COLLABORATION
SETTING UP THE SCIENTIFIC AND
OPERATIONAL WAYS TO ACTUALLY
CARRY OUT PROJECTS AND TO
DELIVER EFFECTIVE THERAPIES FOR
HUMAN DISEASES.
THESE ARE THE DIFFERENT BRANCHES
AND I WANT TO FOCUS HERE.
THIS IS A THERAPEUTIC
DEVELOPMENT BRANCH BUT WE ALSO
HAVE THE EARLY TRANSLATIONAL
BRANCH.
SO IN THE THERAPEUTIC PART OF
DPI THE WAY THAT WE'RE SET UP --
AGAIN THESE ARE TO GET US AS
WE'VE SEEN WE KNOW THAT THIS IS
THE CHEVRON OF THE DRUG
DEVELOPMENT PROCESS.
AND THE THERAPEUTIC DEVELOPMENT
BRANCH SITS HERE WHERE AGAIN
THROUGH THE VALLEY OF DEATH HAVE
PROJECTS THROUGH PRECLINICAL
DEVELOPMENT INTO THE CLINICAL
PHASE.
AND WHAT WE DO IS WE THEN
SUPPORT THIS BY SETTING UP TEAMS
WHERE WE HAVE EXPERTISE IN ALL
OF THE DIFFERENT AREAS OF THE
ENABLING STUDIES THAT YOU NEED
IN ORDER TO PROGRESS INTO YOUR
CLINICAL PHASE OF YOUR PROJECT.
AND IF YOU LOOKING ATS BIT MORE
I WANT TO SHINE A SPOTLIGHT.
MORE IN DETAIL AT THIS PHASE
THERE IS A LOT OF AREAS THAT GO
INTO IT.
NORMALLY YOU HAVE WHICH OTHERS
HAVE TALKED ABOUT IS YOU HAVE
THAT PROOF OF CONCEPT IN YOUR
ANIMAL MODELS WHERE YOU HAVE
THAT CANDIDATE SELECTION AND
ONCE YOU CHOOSE THAT THEN ONCE
YOU HAVE YOUR CANDIDATE SELECTED
THEN YOU GO INTO THE DISEASE
ANIMAL MODELS TO SHOW YOUR
PHARMACOLOGY AND THERE ARE
STUDIES NEEDED FOR YOUR INVESTAL
NEW DRUG APPLICATION AND THESE
ARE THE AREAS THAT WE NORM ALLEY
WORK WITH.
WE DON'T NORMALLY SUPPORT
CLINICAL TRIALS BUT WE DO WORK
WITH OTHER ICs.
SOMETIMES THE CLINICAL TRIALS
ESPECIALLY IN THE AREA DISEASE
SPACE ARE RUN AT THE CLINICAL
CENTER OR IF A PARTICULAR TRIAL
NEEDS FOR EXAMPLE PHASE II
CLINICAL MATERIAL WE SUPPORT
THAT OR IF THEY NEED REGULATORY
SUPPORT.
AND SO AGAIN EVERYTHING IN THE
MODEL OF WHAT THE OPERATIONAL
AND THE WAY THIS WE'VE TRIED TO
OPERATIONAL LIES THE PROCESS WE
HAVE THIS TEAM ALL OF OUR
PROJECTS ARE BASED ON TEAM
SCIENCE AND THEY HAVE THIS *
INFRASTRUCTURE.
PRECLINICAL DEVELOPMENT PLATFORM
AND ONE THING THAT I WANT TO
POINT OUT IS THAT NCATS
FUNCTIONS WITH PROJECT
MANAGEMENT AND THAT WE TRY TO
PROVIDE THAT SUPPORT TO EACH
PROJECT WHERE THEY HAVE THAT
CHAMPION THAT ONE PERSON THAT
MAKES SURE THE PROJECT AND
EVERYTHING IS COORDINATED AND
ALL.
THE ACTIVITIES ARE COMING
TOGETHER.
BECAUSE THERE IS A LOT THAT GOES
ON IN'S PROJECT.
YOU HAVE TO COORDINATE.
IT TAKES A VILLAGE.
A LOT OF DIFFERENT AREAS IN
ORDER TO MOVE A PROJECT FORWARD.
SO WE WANT TO MAKE SURE THAT
CLINICAL IS TALKING TO
PRECLINICAL AND THAT EVERYBODY
IS COMMUNICATING AND THAT IS
TRANSPARENT AND THE SCIENCE IS
MOVING ALONG.
SO IF WE GET INTO DRUG
REPURPOSING -- THIS WAS ADAPTED
FROM A DRUG DISCOVERY TO SAY
THAT AGAIN THERE ARE DIFFERENT
WAYS THAT YOU CAN TALK ABOUT
REPURPOSING OF THE WAY THAT
PEOPLE DESCRIBE IT, DIFFERENT
WORDING AND THERE ARE DIFFERENT
THINGS THAT YOU CAN BE TALKING
ABOUT WHETHER IT'S CURRENT
CANDIDATES, APPROVED DRUGS.
FAILED CANDIDATES.
WHETHER FROM A COMMON INDICATION
TO AN ORPHAN INDICATION.
FOR RARE DISEASES AND DIFFERENT
WAYS TO REPURPOSE A MOLECULE SO
YOU MIGHT HAVE TO CHANGE THE
FORMULATION THE DOSAGE AND MAKE
IT A COMBINATION WITH ANOTHER
DRUG OR THE WAY THAT YOU DELIVER
IT AND ONE THING IS THE MORE
CHANGES YOU MAKE THE MORE TIME
IT TAKES AND THE MORE MONEY IT
ACTUALLY COSTS.
SO THERE IS A LOT MORE INVOLVED
WHEN YOU TAKE SOMETHING FROM ITS
ORIGINAL PURPOSE AND YOU TRY TO
REPOSITION OR REPURPOSE IT.
AND SO THE POWER OF REPURPOSING
IS THAT I THINK ALL OF US FEEL
IS THERE THE POTENTIAL IS THAT
IF YOU HAVE NORMALLY THAT 15
YEAR SPAN IS THERE A WAY TO CUT
THAT DOWN IF YOU HAVE AN
APPROVED THERAPY ALREADY.
CAN YOU UTILIZE THAT.
SO WE HAVE THE NCATS
PHARMACEUTICAL COLLECTION AND
THIS IS ONE WAY THAT
COLLABORATORS INTERACT AND IF
YOU HAVE A SCREEN -- AN ASSAY
SET UP AND YOU WOULD LIKE TO
SCREEN YOU CAN REACH OUT AND TRY
TO COLLABORATE AND HAVE THAT
SCREENED AGAINST -- THERE ARE
ABOUT 3,000 APPROVED DRUGS IN
THE COLLECTION AND WHAT YOU HOPE
IS THAT IF YOU FIND A DRUG THAT
YOU -- IF YOU HAVE A HIT THAT
POSSIBLY YOU COULD SHAVE OFF A
LOT OF THAT TIME RATHER -- THAN
GOING BACK TO THE BEGINNING.
AND CAN BE EASIER TO GET TO THE
FDA APPROVAL.
THE IDEA FOR THE FASTEST ROUTE
TO PATIENTS WOULD BE IF YOU HAVE
PRIOR APPROVAL IN THE U.S.
IF YOU'RE PURSUING A U.S. FDA
IND AND IF YOU HAVE THE ACCESS
AND ABILITY TO USE EXISTING
DATA.
SO SOMETIMES IF YOU CAN HAVE
ACCESS TO THE DRUG OR THE DRUG
MASTER FILE SO THAT YOU WOULD
KNOW HOW TO ACTUALLY -- OR TO
UTILIZE THE MANUFACTURING OF
THAT SUBSTANCE -- IF YOU DON'T
CHANGE THE CMC PROCESS.
IF YOU HAVE THE SAME ROUTE OF
ADMINISTRATION.
YOU REALLY USE THE SAME DOSAGE
AND FORMULATION AND IF THERE WAS
ANY PRECEDENT IF YOU'RE TRYING
TO MOVE INTO A PEDIATRIC
POPULATION IF THAT WAS NEEDED
AND OF COURSE THIS IS NOT ALWAYS
THE CASE AND MOST TIMES IT'S NOT
THE CASE.
YOU HAVE TO CHANGE SOMETHING.
SO THE MORE YOU CHANGE THE MORE
THE PROCESS GETS MORE
COMPLICATED AS TO HOW YOU'LL
ACTUALLY GET TO IND FILING AND
TO TEST IN PATIENTS' WE WORK IN
THE RARE DISEASE SPACE SO
REPURPOSING FOR RARE DISEASES
THE PROBLEM IS THAT THERE IS
LIKE MORE THAN 7,000 DISEASES.
ABOUT 30 MILLION PEOPLE IN THE
U.S. AND LESS THAN 10% APPROVED
THERAPIES FOR THE NUMBER OF RARE
DISEASES AND ABOUT 50% THAT ARE
AFFECTED ARE CHILDREN.
SO I THINK EVERYONE HERE HAS
DISCUSSED AND IS AWARE THERE ARE
MANY CHALLENGES ESPECIALLY FOR
REPURPOSED MOLECULES -- AND
THERE IS OFTEN CHALLENGES AND
PEOPLE HAVING THE FUNDING AND
RESOURCES THE ACADEMIC
EXPERIENCE, DRUG DEVELOPMENT
EXPERTISE AND CLINICAL TRIALS
ARE DIFFICULT AND ESPECIALLY
COMMERCIAL DEVELOPMENT PATHS AND
INTELLECTUAL PROPERTY IS OFTEN
DIFFICULT WITH PATENTS.
AND WHERE WE SEE THE OPPORTUNITY
WHERE WE'VE TRIED TO HELP PEOPLE
AND ESPECIALLY IN REPURPOSING
CAN YOU REPOSITION AND LEVERAGE
EXISTING DRUGS AND CAN WE
PROVIDE THOSE PRECLINICAL
EXPERTISE AND REGULATORY
RESOURCES TO INCREASE
ACCESSIBILITY AND THERAPIES.
I WAS GOING TO GIVE ONE EXAMPLE.
IT'S NOT IN THE MUSCULAR
DYSTROPHY SPACE BUT IT BRINGS UP
SOME OF THE ISSUE THAT'S WE CAME
ACROSS AS WE WERE TRYING TO DO
REPURPOSING AND IT WAS
REPURPOSING A EUROPEAN UNION
THERAPEUTIC.
AND WE HAD A COLLABORATOR -- AND
THIS WAS A SMALL BIOTECH AND SHE
WAS ASSOCIATED WITH BOSTON
UNIVERSITY OR IS ASSOCIATED AND
SO THESE ARE A GROUP OF THE
INHERITED BLOOD DISORDERS AND
DISEASES THAT AFFECT RED BLOOD
CELLS.
YOU KNOW CYCLICAL CELL AND -- *.
THERE IS ONLY ABOUT 2,000
PATIENTS IN THE U.S. AND
SICKLE-CELL HAS ABOUT 1,000.
THERE ARE CERTAIN POPULATIONS
THAT ARE MORE PROPORTIONATELY
AFFECTED ESPECIALLY BLACK AND
AFRICAN-AMERICAN AND HISPANICS
AND ONE IN 13 AFRICAN-AMERICAN
BABIES ARE BORN WITH THE
SICKLE-CELL TRAIT WHICH MAKES
THEM MORE SUSCEPTIBLE TO PASS
THAT ON.
IT'S A SIGNIFICANT HEALTH
PROBLEM.
AND SO THE CHALLENGE WAS THERE
WAS A POTENTIAL DRUG THAT WAS
APPROVED GREATER THAN 40 YEARS
AGO AND IT WAS ONLY AS PART OF A
COMBINATION PRODUCT FOR
PARKINSON'S DISEASES BY THE EMA.
THE EUROPEAN MEDICINES AND THE
HEALTH CANADA.
SO THE QUESTION WAS WHAT NEW
DATA WOULD BE NEEDED TO APPROVE
IT.
AGAIN THEY ALL HAVE MUTATIONS IN
THE BETA GLOBE IN GENE.
THIS IS THE HEMOGLOBIN AND IT'S
IN THE BETA CHAIN WHERE YOU GET
THE MUTATIONS.
SO BOTH HAVE A COMMON TARGET.
A COMMON MECHANISM OF ACTION.
AFTER YOU'RE BORN YOUR FETAL
HUMAN GLOBE IN STARTS TO
INCREASE AND YOU HAVE THE BETA
FORM THAT STARTS INCREASING WHEN
YOU HAVE THE MUTATIONS THE
DISEASE ONSET OCCURS.
SO ONE OF THE COMMON MECHANISMS
IS CAN YOU INCREASE THIS BETA
GAME A HEMOGLOBIN AGAIN TO START
EXPRESSING AND TO PROTECT
PEOPLE.
SO THIS MOLECULE CAME OUT OF A
SCREEN AND YOU SEE OVER HERE ON
THE RIGHT WHEN IT WAS GIVEN
AGAINST VEHICLE THEY SAW THE
INCREASES IN THE FETAL
HEMOGLOBIN.
SO WHAT DID WITH HAVE TO DO?
AGAIN THE DATA WAS VERY OLD.
THERE WAS NOT MUCH THAT WE COULD
LEVERAGE IN WILL TERMS AND WE
HAD TO SHOW EFFICACY AGAIN IN
THIS NEW INDICATION AND THESE
NEW DISEASES SO WE HAD TO DO
EFFICACY STUDIES.
WE HAD TO DO DISTRIBUTION
BECAUSE IT WAS GOING TO
CONCENTRATE -- WHAT WAS THE
DOSAGE GOING TO BE.
WE HAD TO WE WERE ABLE TO
ACQUIRE SOME OF THE EXISTING
GMPAPI BUT IT HAD TO BE
FORMULATED AND OF THE DRUG
PRODUCT AND WE HAD TO AGAIN DO
SAFETY AND EVALUATION.
BUT WHAT I DO WANT TO POINT OUT
IS THAT THE TIME LINE FOR US WE
FELT IT IS ACCELERATED.
WE STARTED WORKING ON THIS IN
2014.
GOT THROUGH THE EFFICACY AND THE
TOXICOLOGY STUDIES AND THIS WAS
FILED BOTH IN THE U.S. AND
HEALTH CANADA AND BY 2019 AGAIN
COLLABORATING IN THE CLINICAL
SPACE THE SITES WERE ESTABLISHED
AND THIS IS NOW ONGOING AND
THERE IS AS YOU CAN SEE HERE THE
SITES ARE BOTH IN THE U.S. AND
IN CANADA.
7 AND IT'S -- THEY PLAN TO
TRANSITION TO THE SICKLE-CELL.
SO I JUST WANTED TO STOP THERE.
I HOPE THAT WAS A GOOD EXAMPLE
TO SHOW YOU AGAIN JUST SOME
INFORMATION ABOUT THE CHALLENGES
THAT COME AND THAT YOU HAVE TO
THINK ABOUT IN THE PRECLINICAL
SPACE WHEN YOU ACTUALLY TROY TO
REPURPOSE A MOLECULE.
SO I WANT TO THANK, WE WORK IN
COLLABORATION AND I COULD NOT
LIST EVERYBODY.
THERE IS ABOUT 60 OF US THAT
WORK ON THESE THERAPEUTIC
DEVELOPMENT PROJECTS.
I WANTED TO MENTION THAT WE DID
HAVE A COLLABORATION WHERE WE
WORKED ON THE -- WHICH WHEN IT
CAME TO NCATS IT WAS THE V BP15
SO WE WORKED ON A LOT OF THAT IN
HELPING WITH THE PRECLINICAL
STUDIES IN DEVELOPING A NEW
SYNTHETIC ROUTE AND THE
MANUFACTURING AND SOME OF THE
PRECLINICAL AND I KNOW THAT HAS
MOVED THROUGH DEVELOPMENT.
SO AGAIN WE TRY TO PHYSICAL THAT
GAP THAT VALLEY OF DEATH TO HELP
THE PROJECTS.
SO THANK YOU.
>> THANK YOU VERY MUCH,
ELIZABETH AND WE'RE NOW OPEN FOR
QUESTIONS.
I THINK THAT WAS REALLY HELPFUL
SHOWING RESOURCE THAT'S ARE
AVAILABLE.
SO THOSE PEOPLE WHO ARE
ATTENDING LIVE AND PEOPLE
WATCHING THE WEBCAST THEY WILL
HAVE THE CONTACT.
QUESTIONS.
>> I PUT UP HERE IF YOU WANT TO
SEE AGAIN YOU CAN ALWAYS LOOK AT
THE NCATS WEBSITE AND MOSTLY
PEOPLE JUST CONTACT US IF THEY
ARE INTERESTED IN
COLLABORATIONS.
WE HAVE SOME APPLICATION THAT'S
PEOPLE DO PUT IN BUT IT'S MORE
ON A ROLLING BASES.
WE TRY TO TALK TO PEOPLE AND
UNDERSTAND WHAT THEIR DRUG
DEVELOPMENT PROJECTS ARE AND
WHAT THEY REALLY NEED AND TO SEE
IF IT FITS AND IF WE CAN SUPPORT
IT.
>> THANK YOU.
I'M NOT SEEING ANYTHING IN THE
CHAT BOX.
IT'S EASIER FOR ME TO SEE THE
CHAT BOX THAN TO SEE EVERYBODY'S
FACES.
>> I HAVE A HAND RAISED.
IT'S GLEN.
GREAT GREAT TALK.
LIZ.
I WONDER IF YOU CAN COMMENT ON
HOW YOUR BRANCH SELECTS PROJECTS
TO WORK ON.
HOW WOULD A RESEARCHER THAT HAS
A PROJECT THAT NEEDS YOUR KIND
OF EXPERTISE HOW WOULD THEY BE
ABLE TO COLLABORATE WITH YOU?
>> YES.
SO WHAT THEY NORMALLY DO IS THEY
CONTACT.
THEY CAN LOOK FOR THE CONTACT
HERE ON THE WEBSITE.
I SHOULD HAVE PUT DIRECT
CONTACTS.
WE HAVE ANDRE -- I CAN MAYBE
SEND THAT TO YOU IF PEOPLE ARE
INTERESTED.
THAT PEOPLE CAN CONTACT AND JUST
SET UP A TIME MOSTLY FIRST WE
WOULD TRY TO TALK TO PEOPLE AND
SEE WHAT THE PROJECT IS.
AND TO SEE IF IT FITS SORT OF IN
THE SCOPE.
A LOT DEPENDS ON SCOPE AND
FUNDING TOO.
WE'RE A SMALL PROGRAM SO WE
DON'T HAVE -- ENDLESS AMOUNTS OF
FUNDING SO WE'VE BEEN MOVING
MORE TOWARDS WHERE IF IT'S
SOMETHING THAT HAS A PARTICULAR
TRANSLATIONAL PROBLEM AND WE
FEEL IT COULD BE HELPFUL FOR THE
COMMUNITY IF IT'S SOMETHING IN
REPURPOSING OR WE'VE BEEN DOING
GENE THERAPY PLATFORM WHERE
WE'RE TRYING TO DISSEMINATE.
WE'RE TRYING TO I THINK WE WERE
MOVING FROM -- SETTING UP
OPERATIONAL AND SCIENTIFIC
PLATFORM AND NOW HOW DO WE MOVE
TO WHERE WE ACTUALLY KIND OF
PROVIDE THE INFORMATION OF WHAT
WE'VE LEARNED OR HOW TO GO ABOUT
THINGS SO SOMETIMES WHEN
PROJECTS HAVE A GOOD
TRANSLATIONAL LEARNING THAT
COULD BE HELPFUL LIKE AS YOU'RE
IN THE REPURPOSING SPACE, HOW
DID YOU GO ABOUT IT AND HOW
COULD THAT BENEFIT THE REST OF
THE COMMUNITY?
THOSE ARE THE PROJECT THAT'S I
THINK ARE GOING MORE TOWARDS
WHERE WE FEEL WE COULD HAVE A
LARGER IMPACT BECAUSE IT COULD
AFFECT MORE THAN ONE DISEASE IF
WE CAN PROVIDE THAT INFORMATION
TO PEOPLE THROUGH OUR DRUG
DEVELOPMENT PROCESS.
SO WE'RE TRYING TO BECOME VERY
OPEN IN SHARING INFORMATION.
AND GETTING THOSE STORIES OUT
THERE LIKE WHAT DID IT REALLY
TAKE IN THE PARTICULAR PROJECTS
FOR ABILITY TO GET TO THE CLINIC
AND THE PRECLINICAL SPACE.
THIS IS DANIEL PEREZ.
I HAVE A QUESTION OR COMMENT.
JUST IN TERMS OF -- THE NEGATIVE
SIDE OF TRYING TO -- THE DRUGS.
I OFTEN WONDER ABOUT THE
RATIONAL -- THAT IS CLOSE TO
TARGET BUT I ALSO WONDER WHAT
THE ISSUES ARE IN TERMS OF --
THE ONE THOUGHT IS ARE WE GOING
THIS ROUTE BECAUSE WE HAVE NOT
DONE ENOUGH TO LEARN -- -- FOR
THE PRELIMINARY WORK.
WE'VE GOTTEN FRUSTRATED WITH
UNDERSTANDING THE MECHANISM OF
DISEASE SO WE'RE TRYING TO MOVE
BEYOND TO TRY ANYTHING THAT WE
CAN.
AND THAT IS NOT NECESSARILY THE
ONE -- LIKE TO BUILD MUSCLES
FASTER -- WE'RE NOT CONSIDERING
THE WHOLE CHARACTER OF THE
DISEASE AND THE SECOND QUESTION
IS -- IS WE DO HAVE A LOT OF
CLINICAL TRIALS -- EXCUSE ME.
WE DO A CLINICAL TRIAL THAT --
-- ARE WE EXHAUSTING THE PATIENT
POPULATION THAT WITH CAN RUN THE
CLINICAL TRIALS ON.
IF I'M IN A TRIAL COULD -- --
AND THERE IS A COMPETING TRIAL
-- -- ---CRITERIA IS NOT TO BE
IN ANOTHER TRIAL THEN ARE WE
TRYING TO GET -- THE LOW HANGING
FRUIT -- -- -- YOUR QUESTIONS OR
THOUGHTS?
>> I THINK AUTHORIZES REALLY
DIFFICULT QUESTIONS THAT WE DEAL
WITH ALL OF THE TIME ESPECIALLY
IN THE RARE DISEASE SPACE.
ONLY SO MANY PATIENTS AND TO TRY
TO TEST THE THERAPEUTICS.
IT'S HARD BECAUSE A LOT OF THEM
DON'T HAVE ANY APPROVED
THERAPIES.
SO WE REALLY HAVE BEEN WORKING
TOWARDS ANYTHING THAT WOULD HELP
IN THE DISEASE SPACE.
THAT WOULD ACTUALLY HELP IN THE
MANAGING SYMPTOMS AND I THINK
WE'VE BEEN MOVING MORE TOWARDS A
LOT OF GENE THERAPIES OR TRYING
TO TARGET MECHANISMS WHERE WE
COULD HOPEFULLY HAVE MORE OF A
CURATIVE EFFECT THAT WOULD HAVE
MORE ON THE OVER-ALL DISEASE BUT
I DON'T KNOW IF OTHERS WOULD
LIKE TO CHIME IN THAT HAVE
EXPERIENCE IN THE DRUG
DEVELOPMENT SPACE.
-- YOU KNOW LIMITED NUMBERS OF
POTENTIAL PARTICIPANTS FOR THE
TRIALS -- AND SO TRIALS MAY
START COMPETING BUT I DO AGREE
WITH DAN.
THERE NEEDS TO BE VERY GOOD
COMMUNICATION TO THE PATIENT
COMMUNITY SO THAT THEY ARE
MAKING INFORMED DECISIONS ABOUT
WHAT TRIALS TO PARTICIPATE IN.
>> ONE THING IN ADDITION TO THE
PATIENT COMMUNITY THAT I'VE
HEARD SECONDHAND IS -- NOT IN
ADDITION TO THE PATIENT
COMMUNITY OR PATIENT LIMITATION
THERE IS ALSO INFRASTRUCTURE AND
STAFF LIMITATIONS ON THE PEOPLE
RUNNING THE TRIALS AND PEOPLE
INVOLVED AT VARIOUS CENTERS.
THERE IS DEFINITELY A
REQUIREMENT TO BE ABLE TO SCALE
UP AND DOWN TO MEET THOSE NEEDS.
>> THIS IS CHRISTINE COLVIS.
I'LL JUST SAY THAT IN TERMS OF
REPURPOSING PARTICULARLY TALKING
ABOUT A DRUG THAT IS ALREADY ON
THE MARKET I DON'T KNOW THAT I
WOULD NECESSARILY GIVE THAT SORT
OF A LOWER RANKING THAN I WOULD
FOR A NEW -- FOR SOMETHING NEW
JUST BECAUSE IT'S PERHAPS A MORE
VALIDATED DRUG.
IF IT'S ALREADY MARKETED FOR AN
INDICATION.
PRESUMABLY IS ACTING AS
PREDICTED.
SO JUST WANTED TO MENTION THAT I
DON'T KNOW IF I WOULD PUT IT
INTO A DIFFERENT CLASS -- IT
WILL COMPETE FOR PATIENTS.
THAT'S -- ONE OF THE CHALLENGES
WITH DRUG DEVELOPMENT.
IN GENERAL.
BUT IF I HAD TO PRIORITIZE I
DON'T KNOW WHAT I WOULD PUT AT
THE TOP.
THE NEW CHEMICAL ENTITY OR THE
ONE THAT IS BEING REPURPOSED.
7 --
>> IS THERE ONE MORE?
WE'RE GOING TO THANK LIZ AND NOW
MOVE ON FOR PRECLINICAL STUDIES
INTO CLINICAL STUDIES.
WE HAVE A PRESENTATION FROM
BARBARA GOODMAN.
SHE IS THE PRESIDENT AND
SEYFERTH OF THE NONPROFIT CURES
WITHIN REACH.
THE TITLE OF HER PRESENTATION IS
CREATING VALUE THROUGH CLINICAL
REPURPOSING.
BAR BRANCH
>> WONDERFUL.
THANK YOU.
EVERYONE SEE ME AND MY SLIDES.
>> YEP.
>> WONDERFUL.
FIRST OF ALL THANK YOU SO MUCH
FOR HAVING ME.
IT'S AN HONOR TO SPEAK TO THIS
GROUP TODAY AND APPRECIATE THE
INVITATION TO SPEAK TO THE
MUSCULAR DYSTROPHY COORDINATING
COMMITTEE.
MY GOAL IS TO SHARE WITH THIS
PATIENT GROUP AND THIS COMMUNITY
A LITTLE BIT ABOUT CURES WITHIN
REACH AND TO PROVIDE YOU SOME
EXAMPLES AND SUCCESS STORIES
THAT HIGHLIGHT BOTH THE
OPPORTUNITIES THAT REPURPOSING
CAN BRING TO YOUR DISEASE AS
WELL AS LESSONS LEARNED FROM
OTHER AREAS.
SO FIRST -- A LITTLE BIT ABOUT
CURES WITHIN REACH.
WE ARE A CHICAGO BASED NONPROFIT
AND OUR GOAL IS TO LEVERAGE THE
SPEED, SAFETY AND COST
EFFECTIVENESS OF TESTING ALREADY
APPROVED THERAPIES FOR NEW
INDICATIONS.
THE COVID-19 PANDEMIC SHINED A
SPOTLIGHT ON WHAT WE HAVE KNOWN
IT AND CERTAINLY THOSE IN THE
RARE DISEASE COMMUNITY HAVE
KNOWN SINCE THEIR DIAGNOSIS AND
THAT IS THE FASTEST WAY TO A
PATIENT IMPACT IS BY USING
ALREADY APPROVED THERAPIES
THROUGH CONTROLLED CLINICAL
TRIALS.
AND SINCE WE'VE BEEN FOCUSING ON
REPURPOSING FOR OVER A DECADE
AND CLOSER TO 15 YEARS NOW WE'VE
PROVIDED OVER $7 MILLION IN
FUNDING OF MOSTLY CLINICAL SOME
PRECLINICAL TRIALS AND THAT HAS
LEVERAGED 76 CLOSER TO
79-$80 MILLION IN FOLLOW ON
FUNDING FOR THE RESEARCH AND'
THE RESEARCHERS THAT WE'VE
FUNDED.
IN TERMS OF WHEN WE FUND AND OUR
APPROACH A LOT OF THE SPEAKERS
TODAY HAVE HAD A SIMILAR LOOKING
DRUG DEVELOPMENT AND THERAPY
DEVELOPMENT.
MOST OF THE FUNDING THAT CURES
WITHIN REACH PROVIDES ARE SEED
FUNDS
AT THE PROOF OF CONCEPT THE
FIRST AND THAT PIVOTAL STUDY
STAGE.
WHAT WE CALL THE COME BACK
WEDNESDAY STAGE.
OUR GOAL IS TO DO THE IND
ENABLING STUDIES.
THAT FIRST STUDY THAT IF IT IS
SUCCESSFUL CATALYZES FOLLOW ON
FUNDING WHETHER FROM THE NIH OR
INDUSTRY OR OTHER LARGER
FOUNDATIONS FOR THE LARGER
CONFORM TORI AND THE LARGER
FOLLOW ON STUDIES.
WE FUND CLINICAL TRIALS WHETHER
OR NOT THEY HAVE COMMERCIAL OR
PHILANTHROPIC VALUE.
YOU CAN SEE SOMETIMES OUR
PROJECTS CAN GET INTO INDUSTRY
HANDS AND SUBMIT THEM.
OTHER TIMES IT'S A GENERIC AND
WHAT WE CALL PHILANTHROPIC
VALUE.
IT CERTAINLY HAS PATIENT VALUE
BUT THERE MAY NOT BE A
COMMERCIAL BENEFIT.
BUT WE ARE IN DIFFERENT.
WE LOOK AT PROJECTS REGARDLESS
OF WHETHER THEY HAVE FINANCIAL
VALUE OR COMMERCIAL VALUE WE'RE
LOOKING AT PATIENTS WITH UNMET
MEDICAL NEEDS.
A LOT OF CONVERSATION FROM
EARLIER SPEAKERS AND ELIZABETH
MENTIONED THIS.
CURES WITHIN REACH FOCUSES ON
REPURPOSING.
WHILE THERE IS AN OPPORTUNITY IN
REPOSITIONING THAT ARE ALREADY
SHELVED OR OTHER TREATMENTS THAT
HAVE NOT YET GOTTEN A REGULATORY
APPROVAL CURES WITHIN REACH
FOCUSES ON THOSE THAT HAVE BEEN
APPROVED BY EITHER THE FDA OR
ANOTHER REGULATORY AGENCY AROUND
THE WORLD.
WE ALSO AS THE PREVIOUS SLIDE
SAID WE LOOK AT BOTH COMMERCIAL
AND PHILANTHROPIC VALUE
PROJECTS.
SO, THAT IS JUST SOME DEFINITE
ANYTHINGS THAT'S I THINK WILL BE
HELPFUL FOR THE REST OF MY
CONVERSATION TODAY.
SO IN TERMS OF CURRENT RESEARCH.
FUNDING AT 36 DIFFERENT TRIALS
AT 31 DIFFERENT INSTITUTIONS IN
29 DISEASES AND 7 COUNTRIES.
MOSTLY IN THE UNITED STATES BUT
WE HAVE ONGOING TRIALS RIGHT NOW
IN GERMANY, INDIA, KEN Y
NIGERIA, UNITED KINGDOM AND
VIETNAM WITH ANOTHER COUNTRY OR
TWO COMING SOON.
AS THIS SLIDE POINTS OUT THREE
QUARTERS OF OUR PROJECTS ARE IN
THE ADULT POPULATION.
OVER 90% ARE IN THE CLINICAL
TRIAL STAGE.
MOSTLY PHASE I.
SOMETIMES PHASE 2A.
80% ARE IN THE UNITED STATES AND
OVER 80% ARE IN DRUGS WITH THE
REMAINING 20% IN DEVICES,
DIAGNOSTICS AND NEUTRA SUIT
CALLS AND WE * COVER A VARIETY
OF DISEASE AREAS AND
INDICATIONS.
THE RARE DISEASE SPACE -- WE'VE
HAD A LOT OF SPEAKERS TALK ABOUT
RARE DISEASES AND REPURPOSING.
IT IS VERY COMMON AND PREVALENT.
OVER 50% ARE IN OU OURS.
-- PROJECTS.
WE HAVE MANY DISEASES AND BLOOD
CANCERS' NOW FIVE OR SIX
DIFFERENT TYPES OF BLOOD
CANCERS.
OVARIAN CANCER.
BONE CANCER.
VASCULAR MALFORMATIONS.
HEARING LOSSES AND RARE LIVER
DISEASES AND OTHER IMMUNE
DISORDERS.
WE HAVE OVER -- FIVE FUNDING
OPPORTUNITIES RFPs
OPPORTUNITIES OPEN RIGHT NOW.
FOUR OF THE FIVE MUSCULAR
DYSTROPHY DISEASES WOULD BE
ELIGIBLE.
THOSE ARE ALL OPEN NOW WITH
PROPOSAL DEADLINES DUE AT THE
END OF -- THROUGHOUT THE MONTH
OF JUNE SO IF ANY OF THE PATIENT
GROUPS HAVE RESEARCHERS THAT
THEY HAVE PROJECTS IN THIS SPACE
OR ANY RESEARCHERS THAT ARE
LISTENING THAT ARE INTERESTED IN
OUR PROPOSALS AND/OR RFPs A
LOT OF THE INFORMATION IS ON OUR
WEBSITE.
THE REST OF MY TIME IS GOING TO
BE TALKING ABOUT THE DIFFERENT
WAYS TO CREATE VALUE FROM
REPURPOSING.
AS I SAID WE LOOK AT BOTH
COMMERCIAL VALUE AND
PHILANTHROPIC VALUE.
ON THE COMMERCIAL SIDE THIS
INCLUDES NEW INTELLECTUAL
PROPERTY.
IT COULD BE DOSING CHANGES,
FORMULATION CHANGES OR CHANGE OF
A NEW DELIVERY METHOD OR
MECHANISM.
WE HAVE DRUG COMBINATIONS.
WE HAVE OTHER PROJECT EXAMPLES
THAT DON'T HAVE ANY FORMULATION
CHANGES OR DOSING CHANGES.
IT'S THE SAME DRUG AND SAME
MOLECULE.
WE HAVE PROJECTS GOING AFTER
MARKET EXCLUSIVITY.
SIMILAR WITH PHILANTHROPIC
VALUE.
OFF LABEL USE.
AS WELL AS OTHER OPPORTUNITIES
IN THIS SPACE.
WHERE DO WE GET OUR IDEAS?
IT'S ONE OF THE QUESTIONS THAT I
WE GET ASKED ALL THE TIME.
VAST MAJORITY OF WHAT OUR WORK
ENTAILS IS INVESTIGATOR
INITIALED IDEAS.
THEY COME FROM RESEARCH
INSTITUTIONS AROUND THE WORLD.
THEY ARE COMING FROM CLINICIANS
WHO ARE SEEN REALLY INTERESTING
THINGS IN THEIR PATIENTS AND
WANT TO DO A CLINICAL STUDY.
FROM INDUSTRY AS WELL AS FROM
PATIENTS.
PATIENT GROUPS, DISEASE GROUPS
AND CAREGIVERS OF PATIENTS IN
PEDIATRIC SPACE.
AND AGAIN HOW DOES THIS LOOK FOR
THE PATIENTS THAT ARE RECEIVING
THESE TREATMENTS?
SOMETIMES THE END GAME IS AN OFF
LABEL USE WITHOUT REIMBURSEMENT.
SOMETIMES IT'S OFF LABEL WITH
REIMBURSEMENT AND SOMETIMES THE
DRUG REPURPOSING OR OTHER
INDICATIONS AND THERAPIES WILL
GET ON LABEL AND RECEIVE NOT
ONLY REGULATORY APPROVAL BUT
ALSO REIMBURSEMENT.
THE EXAMPLES HIGHLIGHT THE VAST
NUMBER OF STAKEHOLDERS THAT ARE
INVOLVED IN REPURPOSING TODAY.
IT INCLUDES INDUSTRY, RESEARCH,
PATIENT DISEASE GROUPS,
NONPROFITS, GOVERNMENT AGENCIES
LIKE THE NIH AND THE DEPARTMENT
OF DEFENSE.
WHETHER THESE STAKEHOLDERS ARE
FORMAL OR INFORMAL PARTNERSHIPS
THE REALLY IMPORTANT STEP IS
BRINGING ALL OF THE STAKEHOLDERS
TO THE TABLE.
WHETHER THEY ARE PRIVATE OR
PARTNERSHIP.
7 PRIVATE OR PUBLIC
PARTNERSHIPS.
THE FIRSTAR STAR EXAMPLE IS ONE
OF OUR EARLIEST EXAMPLES FROM
CURES WITHIN REACH.
THIS REALLY SHOWS THE POWER OF
REPURPOSE A IT HELPED US TO
SHIFT OUR MISSION TO SOLELY
FOCUS ON REPURPOSING BACK IN
2008.
IT WAS THE SUCCESS OF THIS
PROJECT.
ONE OF THE FIRST EXAMPLES IN A
RARE PEDIATRIC DISEASE CALLS
ALPS.
RESEARCH STARTED IN A MOUSE
MODEL.
THAT SUCCESSFUL MOUSE MODEL
ALLOWED US TO FUND A SMALL
CLINICAL TRIAL.
MOST OF THE KIDS IN THE TRIAL
IMPROVED USING THIS GENERIC DRUG
USED FOR TRANSPLANTS.
WE OFTEN JOKE THIS IS ONE OF THE
HANDFUL OF WONDERFUL REPURPOSING
DRUGS.
IT CHANGED THE QUALITY OF LIFE
FOR THESE PATIENTS AND THEIR
PARENTS AND CAREGIVERS QUALITY
OF LIFE.
NOT ONLY WERE THE RESULTS
PUBLISHED IN MANY PUBLICATIONS
OTHER DOCTORS BECAME AWARE OF
THIS TREATMENT AND IT BECAME THE
STANDARD OF CARE.
THEN DR. -- WITH SOME ADDITIONAL
FUNDS TESTED THIS IN OTHER
PEDIATRIC RARE DISEASES.
HE RECEIVED OVER A MILLION
DOLLARS FROM THE NIH FOR FOLLOW
ON TRIALS.
AND IT'S A GREAT EX OF SUCCESS.
ON THE NIH'S OWN WEBSITE YOU CAN
SEE -- IT IS CONSIDERED STANDARD
OF CARE AND IT'S AN EXAMPLE HAVE
THE PHILANTHROPIC VALUE.
THIS IS A GENERIC THAT IS
GETTING REIMBURSEMENT TODAY
USING OFF LABEL AS THE STANDARD
OF CARE.
ANOTHER EXAMPLE TO SHARE WITH
YOU TODAY IS ON THE MEDICAL
DEVICE SIDE.
IT'S ON MARKET TODAY IN THE
MULTIPLMULTIPLE -- MULTIPLE SCLEROSIS
CASE.
HERE IS AN EXAMPLE WHERE THE
UNIVERSITY OF WISCONSIN --
SEVERAL YEARS GO BY AND FOLLOW
ON CLINICAL TRIALS AND
DEPARTMENT OF DEFENSE FUNDING
OVER $4 MILLION FOR FOLLOW ON
FUNDS.
THE DEVICE WAS APPROVED IN
CANADA FOR TRAUMATIC BRAIN
INJURY AND IT GOT APPROVED FOR
MULTIPLE SCLEROSIS HERE IN THE
UNITED STATES A COUPLE OF YEARS
AGO.
NEXT EXAMPLE IS THAT PERSON
EXAMPLE OF WHAT WE CALL THE COME
BACK WHEN FUNDING.
DR. -- AT PENN STATE HAD A
CONVERSATION WITH THE NATIONAL
INSTITUTE OF HEALTH ABOUT HIS
IDEA TO USE A GENERIC MULTIPLE
SCLEROSIS DRUG TO LOOK AT NERVE
DAMAGE IN SEVERE LIMB TRAUMA
PATIENTS WHETHER OR NOT NERVES
WERE CRUSHED OR SEVERED IN A
SEVERE ACCIDENT.
HE TOLD THE NIH ABOUT HIS IDEA.
THE NIH SAID THAT IS FANTASTIC.
COME BACK WHEN YOU HAVE 5-10
PATIENTS AND YOU KNOW IT WORKS
IN A SMALL NUMBER OF PATIENTS'
HE APPLIED TO CURES WITHIN REACH
AND HE WON AN EVENT AND IF I
RECALL HEATHER STONE THE NEXT
SPEAKER WAS AN EXPERT PANELISTS
AT THAT EVENT.
WE STARTED FUNDING DR. -- IN
2019.
THE DoD AND WALTER REED
STARTED USING THIS IN OFF LABEL
USE.
THE SIMILAR PROTOCOL BUT OFF
LABEL USE WITH SOME EARLY
SUCCESS.
THERE IS A SPINOUT CONNECTED TO
PENN STATE SO THERE IS POSSIBLE
COMMERCIAL OPPORTUNITY.
HE WON THE COMPETITION BACK IN
2018.
WE STARTED FUNDING IN 2019 AND
IN JANUARY OF THIS YEAR THE NIH
GAVE HIM A $2 MILLION GRANT FOR
THE LARGER FOLLOW-UP STUDY.
SO A GREAT EXAMPLE OF A LOT OF
PARTNERS INVOLVED -- THERE.
NEXT EXAMPLE IS ALSO A WINNER OF
ONE OF OUR COMPETITION.
THIS IS FOR AN IMMUNE DISORDER
IN CHILDREN CALLED HLH.
USING -- WHICH IS AN ON PATENT
DRUG TODAY.
AFTER THIS RESEARCHER
DR. NICHOLS WON THE COMPETITION.
SHE WAS SPEAKING TO THE
PHARMACEUTICAL PARTNER WHO
AGREED TO PROVIDE DRUG AND
FUNDING FOR THIS TRIAL.
THE TRIAL IS STILL ONGOING SO
TBD TO DETERMINE THE OPPORTUNITY
BUT IT'S A GREAT EXAMPLE OF HOW
INDUSTRY CAN BE ENGAGED THIS.
IS AN INVESTIGATOR INITIATED
TRIAL COMING FROM KIM NICHOLS.
A GREAT EXAMPLE AND WE CANNOT
WAIT FOR THE RESULTS TO COME
FROM THAT.
ANOTHER EXAMPLE -- WITH INDUSTRY
ENGAGEMENT AND PARTNERSHIPS IN
NONSMALL CELL LUNG CANCER.
THAT WAS COMPLETED AT THE
UNIVERSITY OF CHICAGO.
THIS IS REPURPOSING A COMBINES
OF TREATMENTS ALONG WITH
RADIATION FOR STAGE 4 NONSMALL
CELL LUNG CANCER PATIENTS I. IT
HAD POSITIVE OUTCOMES.
* OTHER PUBLICATIONS OVER THE
LAST SEVERAL YEARS THE MOST
RECENT WAS JUST SEVERAL MONTHS
AGO.
A MAJOR PHARMACEUTICAL COMPANY
HAS AGREED TO FUND SOME FOLLOW
ON STUDY THERE AS WELL.
ANOTHER EXAMPLE OF INDUSTRY
ENGAGEMENT PARTNERING WITH BOTH
INDUSTRY AS WELL AS RESEARCH
INSTITUTIONS AND PATIENTS IN
COMBINES OF DRUGS AND DEVICES.
AND THE FINAL EXAMPLE IS IN
HUNTINGTON'S DISEASE.
IT WAS -- THE ORIGINAL STUDY WAS
IN PARKINSON'S DISEASES AND THEY
WERE REPURPOSES A CANCER * DRUG
-- THAT WAS OWNED -- UNDER A
PATENTOR PROTECTION AT THE TIME.
PARKINSONS A TRIAL WAS GOING ON.
THE VERY FIRST PHASE OF THE
PARKINSON'S STUDY WAS
SUCCESSFUL.
SO GEORGETOWN APPLIED TO OUR
FUNDING TO SEE IF THEY COULD
TEST THAT SAME -- SIMILAR DRUG.
THIS TRIAL IS JUST COMPLETING
NOW.
IT'S TOO EARLY TO SHARE RESULTS
BUT WE'RE EXCITED TO SEE WHAT
THE RESULTS ARE GOING TO BE FROM
ANDERSON AND ANOTHER GREAT
EXAMPLE OF HOW INDUSTRY CAN
INVOLVE ITSELF IN THIS SPACE.
WITH THAT I'M GOING TO TAKE YOUR
QUESTIONS AND I LOOK FORWARD TO
CONVERSATIONS WITH THE OTHER
SPEAKERS AS WELL.
I THANK YOU AGAIN FOR HAVING
CURES WITHIN REACH AT THIS
EVENT.
7
>> THANK YOU SO MUCH, BARBARA.
THAT WAS VERY INSPIRATIONAL.
AND WE'RE LOOKING FOR QUESTIONS.
>> GREAT TALK.
BARBARA.
I'M CURIOUS OF THE TRIALS THAT
YOUR ORGANIZATION HAS SUPPORTED
HAVE YOU FOUND THAT THERE IS A
DIFFICULT IN ENROLLING?
IF THE PATIENTS COULD GET ACCESS
TO THE DRUGS OFF LABEL WITHOUT
HAVING TO BE IN THE TRIAL.
IF IT'S DESIGNED WITH A PLACEBO
CONTROL?
>> SO THE PANDEMIC CERTAINLY
IMPACTED ENROLLMENT AND CLINICAL
TRIALS CERTAINLY.
WE -- SEE DIFFERENT INSTITUTIONS
ENGAGED WITH PATIENT GROUPS IN
DIFFERENT WAYS AND WHEN YOU'RE
ENGAGE WE HAD A PATIENT
COMMUNITY AND THE DISEASE
COMMUNITY WHEN YOU'RE IN CERTAIN
INSTITUTIONS THAT ARE WELL
RESPECTED WITH CLINICAL TRIALS
IT'S OFTEN IMPACTS ENROLLMENT.
WE'VE SEEN HAVING BEEN DOING
THIS FOR A LONG TIME WE'VE SEEN
EXAMPLES ACROSS THE BOARD IN
EVERY SPACE.
YOU CAN OFTEN GET PHYSICIAN TO
PRESCRIBE SOMETHING OFF LABEL
BUT AT THE SAME TIME IF YOU
DON'T HAVE A CLINICAL TRIAL WITH
A REPUTABLE DATA THAT IS
REPRODUCIBLE AND PUBLISHED IT'S
REALLY YOU'RE MISSING THE
OPPORTUNITY TO MAKE AN IMPACT ON
PATIENTS BROADLY.
WE'VE SEEN EXAMPLES OF THAT IN
COVID-19 WITH OFF LABEL USE THAT
WHEN YOU DIDN'T HAVE A ROBUST
DATASET FROM A CLINICAL TRIAL
THINGS CHANGE AND I WOULD SAY
USING THAT AS A GREAT EXAMPLE OF
WHY YOU DO WANT TO HAVE NOT
NECESSARILY ON LABEL BUT
PARTICIPATING IN A CLINICAL
TRIAL SO YOUR DATA CAN BE
PUBLISHED AND YOU'RE ON A PATH
TO REIMBURSEMENT AND BROAD USE
IN PATIENTS WHICH FOR US AS A
NONPROFIT IS OUR GOAL CERTAINLY.
>> I HAVE A QUESTION.
HAVE YOU THOUGHT ABOUT -- GENE
THERAPIES -- -- AND THE SECOND
IS TO THE COMMITTEE -- TO THINK
ABOUT INVESTMENT IN MUSCULAR
DYSTROPHY -- DO I WANT TO INVEST
MONEY IN RESOURCES IN DRUGS OR
INVEST MONEY IN MECHANISTIC --
OR OTHER ASPECTS OF RESEARCH AND
HOW DO WE PRIORITIZE THAT?
THOSE ARE THE TWO OF QUESTIONS.
>> SO MY ONE THOUGHT ON THE
SECOND PART OF YOUR QUESTION --
WE FEEL THAT REPURPOSING SHOULD
BE ONE OF THE RESEARCH LEGS OF
THE STOOL.
CERTAINLY PROMOTING DEKNOW VOTE
RESEARCH WE'RE NOT ANTIDENOVO
RESEARCH.
WE THINK IT SHOULD BE RUN ASPECT
OF THE RESEARCH PORTFOLIO.
BUT IN TERMS OF GENE THERAPY I
BELIEVE WE HAVE ONE TODAY THAT
IS USING GENE THERAPY IT'S MODEL
IF I RECALL.
PERHAPS TWO OR MAYBE WE HAVE
ANOTHER ONE COMING SOON BECAUSE
WE HAVE 8 TRIALS COMING SOON.
WITH YOU WE HAVE ONE ONGOING NOW
USING A GENE THERAPY IF I'M
REMEMBERING THE SPECK ONE
CORRECTLY.
-- SPECIFICALLY ONE CORRECTLY.
>> WALTER, DO YOU HAVE A
QUESTION.
7
>> THANK YOU AND WE HAVE FOUR
OPEN CALLS.
MUSCULAR DYSTROPHY AS A DISEASE
IS I BELIEVE ELIGIBLE FOR FOUR
OF THE FIVE.
YOU'VE GOT TO FIND THE RIGHT
INVESTIGATOR AND PI OR CLINICIAN
TO MAKE AN APPLICATION BETWEEN
NOW AND MID- TO LATE JUNE AND IF
YOU HAVE ANY QUESTIONS PLEASE
FEEL FREE TO REACH OUT TO CURES
WITHIN REACH.
THANK YOU FOR HAVING ME.
>> THANK YOU.
WE'VE HEARD TWO OUTSTANDING
TALKS ON POTENTIAL RESOURCES
AVAILABLE TO RESEARCHERS LOOKING
FOR NEW THERAPIES FOR MUSCULAR
DYSTROPHY.
THE FINAL PRESENTATION FOR THIS
SESSION IS BY HEATHER STONE
WHO'S FROM THE OFFICE OF MEDICAL
POLICY AND.
TITLE IS REPURPOSING IN MUSCULAR
DYSTROPHY.
LESSONS FROM THE FDA AND NCATS
CURE ID AND THE CURE DRUG
REPURPOSING LABORATORY.
HEATHER.
I SAW YOU.
>> SHORT TITLES ARE NOT MY
STRONG SUIT
>> THANK YOU FOR THE OPPORTUNITY
TO PRESENT TO YOU TODAY.
* .
>> IT'S WONDERFUL TO BE HERE AND
SEE MANY FAMILIAR FACES AND
FRIENDS
I'LL BEGIN WITH A BRIEF OVERVIEW
OF THE FDA DRUG APPROVAL PROCESS
AS IT PERTAINS TO DRUG
REPURPOSING AND TALK ABOUT OUR
EFFORTS AND THE CURE ID PLATFORM
THAT WAS DEVELOPED BY FDA AND
NCATS.
AND THEN THE PUBLIC/PRIVATE
PARTNERSHIP THAT DEVELOPED OUT
OF THE MEETING THAT WAS
MENTIONED THE 2019 OFF PATENT
REPURPOSING MEETING AND THEN
DISCUSS OUR EXPANSION TO DATA
COMING FROM ELECTRONIC HEALTH
RECORDS AND THE OPPORTUNITY THAT
I SEE FOR THE PLATFORM IN RARE
DISEASES AND HOW WE'RE EXPANDING
IN THAT SPACE.
CURRENTLY FDA APPROVAL AND
MARKETING REQUIRES A SPONSOR TO
SUBMIT A NEW DRUG APPLICATION.
HOWEVER WHEN THERE IS NO
COMMERCIAL INCENTIVE DISEASES
WERE OFTEN NEGLECTED AND TRIALS
ARE NOT FUNDED AND DRUG
DISCOVERY IN SOME INSTANCES
CEASES.
*.
ONCE APPROVED -- THERE IS
SUBSTANTIAL EVIDENCE OF THE
EFFECTIVENESS -- ONCE A DRUG IS
APPROVED HOWEVER BASED ON
KNOWLEDGE AND PROFESSIONAL JUDGE
THEY MAY PRESCRIBE FOR DIFFERENT
POPULATIONS AND DOSES AND
DISEASES NOT PREVIOUSLY
DESCRIBED FOR.
THE PATHWAY INCLUDES THE 505 B-1
B-1.
505B2.
AND THEN THE 505J.
THE PATHWAYS THAT APPLY
TYPICALLY FOR REPURPOSED DRUGS
ARE EITHER A SUPPLEMENT MENTAL
INDICATION OR NDA.
THIS WOULD BE THE TRADITIONAL
PATHWAY THAT A COMMERCIAL
SPONSOR WOULD GO THROUGH TO ADD
AN INDICATION TO THEIR LABEL OR
MOST FREQUENTLY THE 505B2 IS AN
OFF PATENT DRUG -- AND NOT THE
HOLDER.
THERE ARE SOME EXCEPTIONS.
PARTICULARLY WHEN WE START
THINKING ABOUT DRUGS THAT MAY
HAVE BEEN APPROVED IN OTHER
COUNTRIES.
BUT THESE ARE THE STANDARD
PATHWAYS.
7 SO ONCE A DRUG IS APPROVED FDA
GENERALLY DOES NOT REGULATE HOW
AND FOR WHAT USES A PHYSICIAN
PRESCRIBE THAT'S DRUG SO IT CAN
BE PRESCRIBED OFF LABEL FOR
DIFFERENT TREATMENT REGIMENS OR
PATIENT POPULATIONS.
SO THINKING ABOUT WHAT FDA COULD
DO TO TRY TO FACILITATE DRUG
DEVELOPMENT FOR AREAS OF HIGH
UNMET MEDICAL NEED -- WE SAW AN
OPPORTUNITY FOR CAPTURE
INFORMATION DIRECTLY FROM
CLINICIANS WHO WERE USING DRUGS
OFF LABEL.
SO IN 2012 AND 2013 ESTABLISHED
CURE ID WHICH IS THIS PLATFORM
WHICH THE GOAL BEING TO VERY
RAPIDLY ENABLE CLINICIANS TO
SUBMIT AND OTHER HEALTH CARE
PROVIDERS GLOBALLY TO BE ABLE TO
SUBMIT A CASE TO TELL US WHAT
DISEASE DID YOUR PATIENT HAVE.
WHAT DRUGS DID YOU USE IN A NEW
WAY AND WHY AND WHAT WAS THE
OUTCOME?
WITH ADDITIONAL QUESTIONS ABOUT
ADVERSE EVENTS AND DEMO
GRAPHINGS.
AND ALL OF THAT.
THE DATA WOULD THEN BE MADE
OPENLY AVAILABLE TO HEALTH CARE
PROVIDERS TO EXPLORE.
AND IT WOULD ALSO INCLUDE A
DISCUSSION FORUM WHERE PEOPLE
COULD ASK TREATMENT QUESTIONS.
REFERENCE TO CLINICAL TRIALS SO
YOU COULD READILY SEARCH FOR
CLINICAL TRIALS AND OTHER
REGISTRIES.
AND OTHER FEATURES TO TRY TO
ENCOURAGE ENGAGEMENT.
AND THIS INCLUDES BOTH THE
WEBSITE AND THE THE MOBILE
APPLICATION.
WHICH I'LL SHARE THE LINK IN
JUST A MINUTE.
THE GOAL OF THE PLATFORM WAS TO
ENHANCE OUR UNDERSTANDING OF NEW
USES OF APPROVED MEDICAL
PRODUCTS TO FACILITATE CLINICAL
TRIALS AND DEVELOPMENT BASED ON
THE ENHANCED UNDERSTANDING WHILE
RECOGNIZING THAT IT COULD SERVE
AS A RESOURCE FOR PHYSICIANS TO
SHARE INFORMATION WHERE THERE
MAY BE NO FDA APPROVED PRODUCTS
THAT EXISTED FOR THE NEW USE
THAT WAS USED AND PROVEN TO BE
SAFE AND EFFECTIVE.
IT WAS CLEAR THIS WAS A
MULTI-STAKEHOLDER PROCESS AND IT
WOULD BENEFIT FROM THE
INVOLVEMENT OF EXTERNAL PARTIES.
IN PARTICULAR YOU CAN IMAGINE
THAT FOR FDA IT WAS A DIFFICULT
TIGHT ROPE TO WALK BETWEEN
WANTING TO COLLECT CASE REPORTS
AND SEE THE VALUE OF THE CASE
REPORTS WHILE RECOGNIZING THE
SIGNIFICANT LIMITATIONS OF CASE
REPORTS AS WELL AND THAT WE
REALLY WANTED TO DRIVE THIS
TOWARDS RANDOMIZED CONTROL
TRIALS WHERE POSSIBLE.
HOWEVER, REPRESENTING THAT THAT
IS NOT ALWAYS POSSIBLE.
BUT IT WAS IMPORTANT THAT WHERE
THAT WAS FEASIBLE THAT WE TRY TO
DRIVE IT FROM YOU ARE NOW
COLLECTING CASES SYSTEMATICALLY
SO IT'S USING STANDARDIZED
PROCESSES AND THEM TO PUSH IT
FURTHER TO HOW DO WE ACTUALLY
GENERATE EVIDENCE AND
DISSEMINATE THAT EVIDENCE IN THE
FORM OF CLINICAL TRIALS AND
ULTIMATELY REGULATORY APPROVAL.
SO IN JUNE OF 2020 AS A RESULT
OF THE 2019 MEETING THAT I
REFERRED TO WHICH IDENTIFIED THE
NEED FOR A PUBLIC/PRIVATE
PARTNERSHIP WE WERE ABLE TO WORK
WITH THE CRITICAL PATH INSTITUTE
AS WELL AS OUR PARTNERS AT NCATS
TO CONVENE A PUBLIC/PRIVATE
PARTNERSHIP -- CDRC.
IT BEGAN WITH A PILOT FOCUSED ON
DRUG REPURPOSING IN COVID WHICH
AS BARBARA POINTED OUT
HIGHLIGHTED BOTH THE PROS AND
CONS BUT IMPORTANTLY THE NEED
FOR A BETTER INFRASTRUCTURE WITH
WHICH TO CONDUCT REPURPOSING TO
BE ABLE TO CAPTURE DATA HAVE
THAT WHERE APPROPRIATE.
OUR GOAL HAS BEEN TO BUILD
INFRASTRUCTURE FOR COVID THAT
COULD BE USED FOR PARTICULARLY
NEGLECTED AND INFECTIOUS
DISEASES IN THE FUTURE BUT ALSO
FOR RARE DISEASES.
THEY HOPE TO DEMONSTRATE HOW
DATA SHARED FROM CLINICIANS IN
REALTIME COULD BE USED TO INFORM
ONGOING AND FUTURE CLINICAL
TRIALS AND BASED ON THE TRIAL
RESULTS DRUG LABELING.
I'LL JUST POINT OUT THAT THERE
ARE FOUR -- THIS IS THE ADVISORY
COMMITTEE THAT OVERSEES THE CDRC
AND THERE ARE FOUR TOPICAL
COMMITTEES.
THE INFECTIOUS DISEASE
COMMITTEE.
THE RARE DISEASE COMMITTEE.
SPECIAL POPULATIONS AND THEN AN
OPERATION.
FOR THIS GROUP THE INTEREST IS
PROBABLY MOSTLY IN THE RARE
DISEASE COMMITTEE.
WE'VE BEEN ABLE TO RECEIVE A
GOOD DEAL OF SUPPORT.
AND SO THEY HAVE FUNDED BOTH A
RARE ONCOLOGY AS WELL AS A RARE
NONONCOLOGY GROUP AND THE
NONONCOLOGY GROUP HAS CHOSEN AS
ITS FIRST PILOT.
BUT WE TALKED ABOUT THE
POTENTIAL OF THE MUSCULAR
DYSTROPHYs BEING ANOTHER
POTENTIAL PILOT AREA.
SO THE CDRC TRIES TO THINK ABOUT
THE SORT OF WHOLE SPECTRUM OF
DRUG REPURPOSING AND TO RATHER
THAN VIEWING INDIVIDUAL POCKETS
TRY TO THINK ABOUT THE FULL
SPECTRUM IN TOTALITY.
SO WE BEGIN BUT I THINKING ABOUT
WHICH DISEASES -- DRUG
REPURPOSING CAN BE HELPFUL THIS.
THERE ARE DISEASES THAT HAVE
EFFECTIVE TREATMENTS OR DRUG
REPURPOSING DOESN'T SEEM TO BE A
PROMISING OPTION OR IT'S JUST
NOT HAPPENING FOR OTHER REASONS.
BUT THERE ARE SOME DISEASES
WHERE IT'S BEEN SUCCESSFUL.
AND WHERE THERE APPEARS TO BE
OPPORTUNITIES SO WE'VE TRIED TO
DEFINE THOSE DISEASES AND
PRIORITIZE THEM.
WE THEN MOSTLY FOCUS ON THIS
REAL WORD DATA HYPOTHESIS
GENERATION -- AND THIS IS THE
CURE ID PLATFORM AS WELL AS
TREATMENT SURVEYS AND OTHER
MEANS OF COLLECTION.
AND THEN THE GOAL IS TO CONFIRM
THE HYPOTHESIS GENERATED IN
CLINICAL TRIALS AND TO THINK
ABOUT HOW TO DO THAT IN A MORE
STRATEGIC AND ROBUST MANNER AND
HOW DOES IT GET DISSEMINATED
INTO CLINICAL PRACTICE SO IT CAN
BENEFIT PATIENTS WHAT ARE THE
LEGISLATIVE AND POLICY CHANGES
THAT MAY BE NEEDED IN ORDER TO
FACILITATE THAT.
SO I'M NOT GOING TO LIE.
GETTING CASE REPORTS IS HARD IN
THE BEST OF TIMES AND DURING A
GLOBAL PANDEMIC HAS BEEN NEARLY
IMPOSSIBLE.
7 BUT IT DID PRESENT AN
OPPORTUNITY TO THINK OUTSIDE THE
BOX TO COME UP WITH ALTERNATIVE
WAYS ABOUT HOW DRUGS ARE BEING
REPURPOSED.
SO ACTUALLY TWO ASPECTS OF THIS
MAY BE OF INTEREST TO THIS
GROUP.
THE FIRST IS THAT SO WE WERE
AWARDED A LARGE GRANT FROM --
HHS.
WHICH IS PART OF THE -- TO BUILD
AN AUTOMATED EXTRACTIONS TOOL.
INITIALLY FOR COVID BUT WITH THE
BEYOND CO COVID OBJECTIVE.
AND WE'VE PARTNERED WITH EMORY,
THE SOCIETY FOR CRITICAL CARE
MEDICINE VIRUS REGISTRY AND THE
OBASOHA--OBSERVATORY IN OXFORD.
IT WILL BE MADE OPEN AND
ACCESSIBLE AS WELL AS A LARGER
MORE DETAILED DATASET WHICH WILL
BE MADE AVAILABLE TO RESEARCHERS
WHO SUBMIT A RESEARCH PROPOSAL.
WE'RE NOW EVALUATING THE
POTENTIAL UTILITY THAT THIS TOOL
COULD HAVE IN DIFFERENT RARE
DISEASE SPACES AS WELL AS OTHER
SPACES BUT WE'RE EXCITED ABOUT
THE POTENTIAL IT HAS FOR RARE
DISEASES.
WE CURRENTLY HAVE ACCESS OR WILL
HAVE ACCESS TO SEVERAL UP
INSTITUTIONAL SITES HOSPITALS
AND HEALTH CARE SYSTEMS SO THE
ABILITY TO IDENTIFY CASES WITH
RARE DISEASES AND THEN
UNDERSTAND HOW THEY WERE TREATED
AND AGGREGATE THAT INFORMATIONS
VERY EXCITING.
MUCH TO WORK OUT IN TERMS OF THE
LOGISTICS OF HOW TO DO THAT.
WHILE OF COURSE BEING COGNIZANT
OF PRIVACY CONCERNS AND THE
OTHER ISSUES BUT I THINK IF WE
WERE ABLE TO DO THAT IT WOULD
HAVE GREAT UTILITY TO THE
RESEARCH COMMUNITY.
THE SECOND PART WHICH IS
IMPORTANT IS THAT THIS GRANT
ALSO INCLUDES THE DEVELOPMENT OF
A PATIENT PORTAL TO THE CURE
PLATFORM.
WE'RE PILOTING THIS WITH LONG
COVID.
THIS WOULD INCLUDE A CASE REPORT
FORM FOR PATIENTS INSTEAD OF
CLINICIANS TO FILL OUT AND THERE
IS GREAT EXCITEMENT ABOUT THE
POTENTIAL TO USE THIS IN THE
AREA DISEASE SPACE.
GIVEN THAT PATIENTS KNOW MORE
ABOUT THEIR DISEASES THAN THEIR
DOCTORS DO.
THE LAST THINGS THAT I MENTIONED
THE IMPORTANCE OF MOVING TOWARDS
AN INFRASTRUCTURE FOR BETTER
STUDYING POTENTIAL DRUG
REPURPOSING HYPOTHESIS IN
RANDOMIZED CONTROLLED TRIALS.
SO IN THE LAST YEAR AND A HALF
CDRC AND EMORY HAVE PARTNERED
TOGETHER AND ARE REVIEWING TWO
LARGE ADAPTIVE PLATFORM
RANDOMIZED DESIGNS.
INITIALLY FOR COVID BUT THINKING
ABOUT HOW THE TRIAL DESIGNS
COULD BE PIVOTS TO OTHER DISEASE
AREAS.
AND I'LL TALK ABOUT THAT MORE IN
A SECOND.
SO WE HAVE PREDICT WHICH IS AN
ACUTE IMPATIENT TRIAL EMBEDDED
IN CLINICAL PRACTICE AND USING
EHRS.
AND THEN TLC WHICH IS TREATMENT
OF LONG COVID WHICH IS A CHRONIC
LONG-TERM OUTPATIENT TRIAL USING
TELEMEDICINE AND ELECTRONIC
PATIENT OUTCOME MEASURES.
WITH THE FOCUS OF THE EVALUATION
OF EFFICACY OF REPURPOSED AGENTS
AGENTS.
SO THE POINT WAS IN THE SLIDE
THAT I APPARENTLY TOOK OUT WAS
WE'RE THINKING ABOUT THIS IN
TERMS OF CURRENT PANDEMIC AND
REEMERGING PANDEMIC AND HOW IT
COULD BE SCALED UP OR SCALED
DOWN AND PIVOTED IN SUCH WAYS SO
THAT THE INFRASTRUCTURE COULD BE
MUCH MORE SUSTAINABLE AND USED
IN AN ONGOING WAY.
IT'S A RATHER ELABORATE VISION
OF A NEW WAY OF DOING TRIALS BUT
WE'RE HOPING IT WILL BE OF
INTERESTED.
HERE IS SOME OF THE
OPPORTUNITIES I WONDER ABOUT FOR
USING THE CURE PLATFORM AS A
RARE DISEASE PLATFORM BOTH ON A
NATIONAL OR INTERNATIONAL LEVEL.
I WOULD LOVE TO EVALUATE WHETHER
IT MIGHT BE POSSIBLE TO USE THE
EH RUCKS EXTRACTION TOOL TO
ENABLE THE GATHERING OF CASES
AND WOULD LOVE TO HEAR MORE IF
THERE ARE FOLKS THAT YOU MIGHT
THINK WOULD BE INTERESTED IN
PARTICIPATING OR EITHER
CONTRIBUTING DATA OR BEING ON
OUR RARE DISEASE COORDINATING
COMMITTEE OR ONE OF THE WORKING
GROUPS, WE WOULD LOVE TO TALK.
THAT IS IT.
THANK YOU SO MUCH.
>> THANK YOU.
THANK YOU, HEATHER FOR THAT VERY
GREAT OVERVIEW.
WE CAN TAKE QUESTIONS.
WE HAVE A LITTLE LESS THAN FOUR
MINUTES NOW SO WE APPRECIATE YOU
STAYING ON TIME.
I SAW A FLASH OF A HAND.
WOULD YOU LIKE TO ASK YOUR
QUESTION OR A MAKE YOUR COMMENT
>> I THOUGHT ALL OF THESE WERE
VERY INFORMATIVE AND EXCELLENT.
SO THANK YOU VERY MUCH.
THIS WAS A GREAT SESSION.
AND BACK TO DAN'S COMMENT ABOUT
HOW TO BALANCE THE BASIC
MECHANISTIC STUDIES VERSUS THE
DRUG REPURPOSING.
AND OF COURSE IN A PERFECT WORLD
WE WANT BOTH AND THEY ARE
COMPLIMENTARY AND WE NEED BOTH
BUT THEY CAN BE MUTUALLY
INFORMATIVE IF WE'RE SMART ABOUT
IT.
SO NEW UNDERSTANDING ABOUT BASIC
MECHANISMs FOR DISEASE SUGGEST
OTHER DRUGS CAN BE REPURPOSED.
INFORMATION ABOUT SUCCESSFUL
REPURPOSING EXERCISES CAN GIVE
US CLUES ABOUT NEW MECHANISMS
FOR DISEASE THAT WE HAD NOT
CONSIDERED.
THE GOAL IS TO BE THINKING AND
COMMUNICATING ACROSS THESE
SPACES AND I'LL JUST THROW OUT
ONE EXAMPLE FROM MY AREA OF
RESEARCH WHICH WAS COM -- COMPELLING
AND DISCOVERING THROUGH
COMPARING GENETIC FINDINGS THAT
A DRUG HAD A THERE BE USED FOR
CANCER MIGHT BE AN ATTRACTIVE
DRUG FOR RHEUMATOID ARTHRITIS.
THE OPPORTUNITIES TO INFORM
THESE DIFFERENT PATHS ARE REALLY
TREMENDOUS.
>> IF YOU DON'T MIND MY
RESPONDING THANKS, LINDSEY.
SUCH AN IMPORTANT POINT AND
MAYBE I CAN SHARE TWO QUICK
EXAMPLES AS WELL THAT I FIND
ILLUMINATE CAN.
DAVID -- DR. DAVID FAGENBOMB
FROM THE UNIVERSITY OF
PENNSYLVANIA -- HE WAS CURIOUS
WHAT WE WERE DOING ON MUSCULAR
DYSTROPHY.
HE IS A RARE DISEASE ADVOCATE
WHO SAVED HIS OWN LIFE BY
FINDING A REPURPOSED DRUG THAT
HAS KEPT HIM IN REMISSION NOW
FOR 100 MONTHS.
HE DID THAT BY STUDYING HIS
BLOOD SAMPLES IN GREAT DETAIL
AND FOUND THAT THE WAY THAT THE
CASTLE MAN'S DISEASE OPERATED
THEY HAD IT BACKWARDS.
THE IDEA OF HOW IT WAS
OCCURRING.
SO BY UNDERSTANDING THE
MECHANISM OF THE DISEASE BASED
UPON THE SAMPLES THAT HE
PROCURED AND ANALYZING THEM
HIMSELF HE WAS ABLE TO IDENTIFY
-- AND BARBARA'S FAVORITE
EXAMPLE AS A CANDIDATE -- AND
THEN THE OTHER EXAMPLE I WOULD
TURN TO IS WHERE PEOPLE MAY HAVE
MULTIPLE DISEASES AND BEING ON
TREATMENT FOR ONE CAN LEAD TO
INFORMATION ABOUT THE OTHER.
FIBRO MYALGIA IS A GREAT
EXAMPLE.
PATIENTS WERE GETTING --
SUDDENLY REALIZED THAT THEIR
FIBROMYALGIA SYMPTOMS WERE
GETTING BETTER.
IT WAS THOUGHT TO BE A MUSCULAR
SKELETAL CONDITION AND THIS IS
SUGGESTING THAT IT'S A COMBINES.
-- COMBINATION.
HOW THEY CAN BE MUTUALLY
COMPLIMENTARY IS IMPORTANT.
>> SLEPT POIN -- EXCELLENT POINT.
INITIALLY WE WERE FOCUSED ON
INDIVIDUAL SINGLE GENE DISORDERS
AND NOT THINKING ABOUT PATHWAYS
AND WHEN IT BECAME POSSIBLE TO
LOOK AT A CONDITION AND LOOK AT
GENE EXPRESSION AND SEE THE
MULTIPLE PATHWAYS THAT HAVE BEEN
DISRUPTED YOU CAN LOOK UPSTREAM
IN THOSE PATHWAYS AND THAT
BEGINS TO CONNECT THE DOTS IN
DIFFERENT NETWORKS WHICH SUGGEST
THAT A DRUG MIGHT BE USEFUL FOR
ONE CONDITION HAS RELEVANCE
DOWNSTREAM FOR ANOTHER ONE.
SO, ITS REALLY EXCITING.
OKAY.
OTHER QUESTIONS?
>> I HAVE A QUESTION.
>> SO HEATHER -- I'VE SEEN RARE
DISEASE COMMUNITIES USE SOCIAL
MEDIA TO KIND OF EXCHANGE
INFORMATION AND ALMOST CONDUCT
THEIR OWN CLINICAL TRIAL.
GO TO THE PHYSICIAN.
GET A SERUM CK MEASUREMENT.
START A DIETARY SUPPLEMENT.
SO YOU HAD MENTIONED A PATIENT
PORTAL IN -- WHITE BE THAT SORT
OF THING?
IS THERE SOME OTHER WAY TO
ACCESS THAT INFORMATION THAT IS
BEING SHARED WITHIN THE
COMMUNITY THROUGH SOCIAL MEDIA.
>> THERE ARE A COUPLE OF
OPTIONS.
WE THOUGHT ABOUT TRYING TO GET
IT FROM SOCIAL MEDIA.
IT'S HARD TO HAVE THE
INFORMATION BE STANDARDIZED IN
THAT PROCESS SO I THINK THERE IS
SOMETHING TO BE SAID FOR
PATIENTS REPORTING IT THROUGH
ITS STANDARD PLATFORM.
AS LONG AS IT'S SORT OF REALLY
MINIMALLY INVASIVE AND IS NOT
VERY TIM TIME-CONSUMING.
THE ALTERNATIVE OPTION THAT
WE'VE THOUGHT ABOUT AND THIS IS
ALSO LIKE I SAID BECAUSE I THINK
IN SOME CASES THERE IS A LOT OF
INFORMATION THAT ALL OF THE
PATIENTS HOLD SO, IT'S IMPORTANT
TO HEAR DIRECTLY FROM THEM AND
IN MANY CASES I THINK PATIENTS
VERY MUCH WANT TO SHARE WHAT HAS
WORKED AND NOT WORKED
PARTICULARLY WITH NIH OR FDA OR
OTHER BODIES THAT THEY SEE WHERE
IT WOULD BE GOOD TO SEE
RESPONSIVENESS.
I THINK THE OTHER OPPORTUNITY IS
TO IN SOME CASES IS TO GET THE
INFORMATION FROM EHRs BUT
RATHER THAN PARTNER WITH THE
INSTITUTIONS IT'S PARTNER WITH
THE PATIENTS TO GET IT SO WHAT
DAVID'S GROUP DOES FOR EXAMPLE
IS THAT PATIENTS FOR THEIR
REGISTRY PATIENTS SIGN A CONCEPT
TO PROVIDE ACCESS TO THEIR
MEDICAL RECORDS.
WHICH THE TEAM THEN GOES AND
PROCURES THE MEDICAL RECORDS AND
EXTRACTS THE PERTINENT
INFORMATION INTO THEIR REGISTRY.
THIS IS AN MANUALLY INTENSIVE
PROCESS AND HUMAN RESOURCE
INTENSIVE BUT IF YOU WANT TO GET
A LOT OF DETAILED INFORMATION
AND THINGS LIKE LABORATORY
VALUES OR IMAGING RESULTS THEN
IT PROVIDES A POTENTIAL
OPPORTUNITY WHERE IT'S STILL THE
PATIENT IS VERY MUCH IN CONTROL
AND IS CONCEPTING TO THE
PROVISION OF THEIR INFORMATION
AND HOW IT WILL BE USED.
>> WE HAVE A LITTLE BIT MORE
TIME IF ANYBODY WANTS TO MAKE
ANY ADDITIONAL COMMENTS ON THIS
WHOLE DRUG REPURPOSING SECTION.
NOT JUST ON HEATHER'S
PRESENTATION BUT ANY OF THE
PRESENTATIONS THAT WE HEARD IF
ANYBODY WOULD LIKE TO MAKE
COMMENTS?
>> BARBARA, I HAVE A QUESTION.
YOU GUYS HAVE DONE A FANTASTIC
JOB WITH REPURPOSING THE
APPROVED DRUGS.
WHAT IS YOUR COST RANGE FOR
SUPPORTING THESE STUDIES?
>> SO OUR FUNDING IS AS LITTLE
AS $50,000.
WE WITH A FUNDING PARTNER THAT
IS WILLING TO FUND IT CERTAINLY
HAVAND HAVE GONE HIGHER IN THE
$250,000 RANGE.
SOMETIMES THESE PROJECTS ARE
JUST $50,000.
AGAIN IT'S REPURPOSING.
5-10 PATIENTS.
IT'S A GENERIC DRUG.
OTHER TIMES THE PROJECTS THAT WE
FUND -- IT MIGHT BE LARGER
ONGOING STUDY BUT WITH $50,000
OR $100,000 MORE THEY CAN HIRE A
DEDICATED CLINICAL ENROLLMENT
PERSON.
THEY CAN OPEN UP ANOTHER TRIAL
SITE TO SPEED ENROLLMENT.
THEY CAN DO ADDITIONAL BIOMARKER
STUDY THAT WILL MAKE THE DATA
MORE CLEAR AND HIGHER LIKELY TO
GO ON TO THE NEXT STAGE SO WE'RE
WILLING TO FUND ADDITIONAL AN
ONGOING TRIAL OR FUNDS THAT ARE
ALREADY AROUND AND ONGOING THAT
WILL STRENGTHEN THE TRIAL AND
SPEED ENROLLMENT OR BE MORE
COMPELLING FROM A DATA
STANDPOINT.
WE ARE NOT GOING TO BE FIRST
MONEY IN THAT HAS TO RAISE
ANOTHER MILLION.
BUT WE'LL ADD TO ANOTHER STUDY
BUT A LOT OF OUR STUDIES ARE
STAN ALONE BECAUSE THEY ARE
SMALL, PROOF OF CONCEPT SO IT'S
A MIX OF BOTH.
DOES THAT ANSWER YOUR QUESTION.
>> YEAH.
THAT IS GREAT.
THANK YOU.
>> JUST A COMMENT.
CURRENTLY THERE IS AN ONGOING
ONE OF THE LARGEST ONGOING
TRIALS -- THAT -- -- TO SEE WHAT
HAPPENS -- AS OTHER -- COME INTO
FOCUS THE -- WHAT HAPPENS TO
THEM?
VERY INTERESTING CASE STUDY --
AND LOOKING AT THE DRUG THAT WAS
CHOSEN -- AND THEN YOU'VE GOT --
A GAZILLION DOWNSTREAM THAT YOU
CAN TARGET.
-- -- -- I WONDER WHAT THE
APPLICATION CAN BE LONG-TERM --
THE DRUG GOES INTO PHASE III AND
THAT IS A CONCERN.
IT'S JUST WHAT I'M THINKING
ABOUT.
THAT'S ALL I HAVE TO SAY.
THANKS.
>> ANY OTHER COMMENTS?
OTHERWISE WE'LL BRING THE
DISCUSSION TO AN END AND THEN
I'LL MAKE SOME BRIEF CLOSING
REMARKS.
I KNOW ASKING PEOPLE TO SIT FOR
FOUR HOURS IS A CHALLENGE.
I DON'T THINK I CAN SIT FOR MORE
THAN FOUR HOURS.
WE HEARD TWO DIFFERENT BROAD
THEMES TODAY.
WE HEARD SOME REALLY INTERESTING
AND IMPORTANT TALKS FROM OUR NEW
MEMBERS WHO TOLD US ABOUT EITHER
THEIR LIVED EXPERIENCES AND/OR
THEIR PROFESSIONAL AFFILIATIONS
AND HOW THEIR EXPERIENCES OR
FAMILY EXPERIENCES GUIDED THEM
TO WHERE THEY ARE TODAY.
AND AT THE END OF THE DAY THAT
IS WHAT IS ALWAYS MEMORABLE FOR
ME.
I THINK AS A CLINICIAN.
BUT IMPORTANTLY BIG PICTURE WE
HEARD FOUR OUTSTANDING TALKS
ABOUT HOW TO REPURPOSE DRUGS AND
IT'S SOMETHING THAT I'M VERY
INTERESTED IN AS WELL FOR MY OWN
LABORATORY RESEARCH ON REBURNING
EXISTING THERAPIES IN DOWN
SYNDROME.
A LOT OF OF THE APPROACHES THAT
WE HEARD ARE ALSO VERY RELEVANT
IN OTHER FIELDS.
I THINK THAT ESPECIALLY HEARING
BARBARA'S PRESENTATION FROM
CURES WITHIN REACH IT HIGHLIGHTS
THE IMPORTANCE OF GETTING
FUNDING FOR PRELIMINARY DATA.
THAT IS THE HARDEST THING FOR
ANYBODY AND IT'S REALLY
DIFFICULT TO GET MAJOR NIH
FUNDING UNLESS YOU HAVE A WAY OF
DEMONSTRATING THE CORE PRINCIPLE
AND SO ARE WE IN INDUSTRY AS
WELL.
SO THANK YOU BARBARA FOR YOUR
COMMITMENT TO THAT.
BEFORE WE CLOSE WE DID WANT TO
BRING UP TWO ISSUES.
ONE IS SUGGESTIONS FOR FUTURE
TOPICS.
DAN PEREZ IS VERY EXCITED ABOUT
THE COMPLETION OF THE SEQUENCING
OF THE HUMAN GENOME AND THE FACT
THAT THEY USE FHSD AS AN EXAMPLE
AND WE'RE LUCKY THAT ONE OF THE
LEAD AUTHORS OF THAT STUDY IS
ADAM FILL PEE AND WE'RE GOING TO
ASK HIM TO SEE IF HE CAN * SPEAK
AT OUR NEXT MEETING.
THIS IS AN AMAZING COLLABORATION
BECAUSE ALL OF THE PEOPLE WHO
CONTRIBUTED TO THE SEQUENCING
HAD NEVER MET EACH OTHER IN
PERSON BEFORE.
SO THIS WAS MAJOR SEQUENCING
THAT WAS DONE DURING THE
PANDEMIC AT A TIME WHEN
EVERYBODY WAS WORKING VIRTUALLY
AND ARE IN ISOLATION IN THEIR
LABORATORIES SO SOME GOOD THINGS
CAME OUT OF THE PAST TWO YEARS.
SO WE HAVE THAT ON DECKING THEN
FOR THE NEXT MEETING.
WE DID HAVE A SUGGESTION FOR A
FUTURE TOPIC.
CAN WE GET BACK TO THAT?
I'M FORGETTING WHO MENTIONED
THAT.
WAS IT YOU GUSTAVO
>> I THINK IT WAS DAN'S
SUGGESTION THAT WE LOOK MORE AT
NIH FUNDING LEVELS.
7
>> NO.
THERE WAS SOMETHING EVEN BEFORE
THAT.
>> I
>> IT WAS A A PREVIOUS
SUGGESTION I DON'T REMEMBER WHO
IT WAS FROM THAT WE WERE
CONSIDERING FOR THE OCTOBER
MEETING.
THE NEXT MEETING IS
OCTOBER 3rd BY THE WAY.
AND CANDIDATE TOPIC IS NOVEL
FUNCTIONAL OUTCOME MEASURES SO
THIS COULD INCLUDE THINGS LIKE
VIDEO MEASUREMENTS OF REARABLE
WORK SPACE.
REMOTE DATA COLLECTION.
THERE IS SOME INTERESTING
STUDIES OF USING VIDEOS IN THE
HOME TO CAPTURE DATA OF PATIENT
MOVEMENT.
AND THEN HAVE THAT VIDEO
ANALYZED IN LAB FOR QUANTITATIVE
MEASURES OF FUNCTION.
>> I'M THINKING ABOUT THE
DIRECTOR OF THE NATIONAL LIBRARY
OF MEDICINE -- WHOSE RESEARCH IS
ON THE FUNCTIONAL HOME
ENVIRONMENT.
NOT SPECIFIC TO MUSCULAR
DYSTROPHY BUT SHE COMES FROM A
NEWSING AND ENGINEERING
BACKGROUND.
AND I BELIEVE SHE HAS SET UP A
VIRTUAL HOME IN THE CLINICAL
CENTER WHERE SHE CAN MONITOR
PEOPLE AND LOOKS AT HOW THEY
FUNCTION WITHIN THEIR HOME AND
WHETHER AND HOW THEY GET ACCESS
TO MEDICATIONS.
WHAT IS IN THE REFRIGERATOR ETC.
SO THAT MIGHT BE INTERESTING TO
SEE COULD THERE BE A CO-LAB TORI
-- WHERE SHE AND HER ASSOCIATES
WOULD TALK WITH US AND SEE
WHETHER IT'S RELEVANT TO
MUSCULAR DYSTROPHY.
>> AT THE MEETING THERE WAS A
DISCUSSION ABOUT THAT TYPE OF
POSSIBILITY FOR OUTCOME MEASURES
-- IN HOME VIDEO -- AND I WAS
REALLY IMPRESSED WITH THE PEOPLE
-- THE DECISION THAT THE PEOPLE
TOOK.
>> MAYBE YOU CAN SHARE WITH US
WHO WERE SOME OF THE SPEAKERS
AND WE CAN INVITE THEM TO
PRESENT.
>> THE THING THAT I WOULD LIKE
TO ADD TO OUTCOME MEASURES LIKE
GAIT ANALYSIS -- THE CONCEPTS --
THAT -- THE DISEASE TODAY AND
THE DISEASE PROGRESSES FOR
ANOTHER FEW YEARS -- SO DO WE
NEED TO WAIT TWO YEARS BEFORE WE
KNOW IF THE DRUG IS NOT WORKING
-- INSTEAD OF WAITING FOR THE
TWO-YEAR CASCADE TO FINISH.
CAN WE TEASE OUT THE BIOMARKERS
OF DISEASE AND PROGRESS VERSUS
BIOMARKERS OF DISEASE -- THAT
HAS BEEN HALTED.
CAN WE -- -- AND WILL THAT HELP
US -- GET BETTER OUTCOME
MEASURES?
BECAUSE THERE MAY BE A LOT OF
DRUGS THAT ARE WORKING BUT YOU
DON'T KNOW FOR TWO YEARS.
7 IS THAT A LOT -- ARE UNDER
REACTING TO THAT
>> CAN I REPHRASE IT A LITTLE
BIT.
I THINK YOU'RE LOOKING FOR MAYBE
-- A BIOMARKER?
>> THE DRUGS -- TODAY ON MAY 9,
2022, IT MAY TAKE ANOTHER TWO
YEARS FOR THE DISEASE PROCESS --
WHAT IS ONGOING?
IT'S GOING TO GO.
BUT THE MUSCLE CELL NEXT TO IT
IS NOT AFFECTED -- SO DOVE AN
ISSUE OF HAVING TO SHUT DOWN THE
-- GENE SUCCESSION AND IT HAS A
CASCADE ALONG CASCADE -- SO ONCE
YOU SHUT IT DOWN YOU MAY NOT
KNOW -- I GUESS IT'S NOT
TRANSLATING -- AND THEN THERE IS
A WAY TO MEASURE -- -- ---TODAY
YOU WOULD HAVE AN A 10 SITUATION
-- * OF THE DISEASE EFFECT.
FOR ANOTHER TWO YEARS.
SO, ITS IMPORTANT TO MEASURE --
TO KNOW WHETHER OR NOT YOU HAVE
GOT STOPPED THE DISEASE
PROGRESSION.
-- -- THE WORK SPACE -- SURVEYS.
HOW ARE WE TRYING TO -- THE NIH
-- THINKING ABOUT THESE KIND OF
THINGS.
HOW DO YOU TAKE THAT
CONSIDERATION -- APART -- TRY TO
UNDERSTAND IT.
DO YOU UNDERSTAND WHAT I'M
TRYING TO SAY?
>> I THINK SO.
AND LEE IF HE IS STILL ON YOU
MAY WANT TO COMMENT HERE.
I THINK THE MAGNETIC RESONANCE
IMAGING BIOMARKERS HAVE BEEN
QUITE EFFECTIVE IN PREDICTING
SUBSEQUENT PHYSICAL FUNCTIONING
OUTCOMES IN ORDER TO BE ABLE TO
HAVE BIOMARKERS THAT ARE
SENSITIVE TO CHANGE OVER SHORTER
PERIOD OF TIME AND FIT INTO
TRIALS BETTER THAN I THINK THE
MR BIOMARKERS MAY BE DOING A
GOOD JOB FOR THAT.
>> TO SHUT DOWN THE DISEASE
TODAY IT HAS A CASCADE AND IT
GOES ON AND ON.
AND SO HAS NOTHING TO DO WITH --
THE MUSCLES ARE DYING.
THE MUSCLES ARE TURN INTO FAT --
AND THEN IT GOES.
>> BUT DAN IF YOU WERE TO SHUT
DOWN THE PROTECTION THEN YOU
WOULD ALLOW REGENERATION TO
START SO IT MAY NOT TAKE TWO
YEARS TO SEE THE IMPACT OF THE
DRUG BUT IT WOULD TAKE SOME
TIME.
>> I THINK WE'RE IN THE SPOT
WITH A LOT OF DISEASES SO WHAT
YOU'RE GETTING AT WHICH IS
ABSOLUTELY TRUE IS WHAT STARTS
OFF THE DISEASE MAY DRIVE IT FOR
A WHILE BUT THEN OTHER DRIVERS
THAT COME ON IN LATER STAGES.
ALZHEIMER'S IS THE GREAT EXAMPLE
NOW WHERE AMYLOID WAS THOUGHT TO
BE THE MAJOR DRIVER AND NOW WE
CAN TAKE IT OUT AND NOT SEEING A
BIG CLINICAL EFFECT.
THE THOUGHT WAS THAT IS TOO LATE
AND SOMETHING ELSE CAME ON IN
THE MEANTIME.
THE SAME DISEASE.
IT'S JUST THAT IT'S DIFFERENT
DRIVERS AND DIFFERENT STAGES OF
THE DISEASE.
SO, THAT IS WHAT YOU HAVE TO TRY
TO UNDERSTAND.
NOT EASY.
CERTAINLY IN ALZHEIMER'S.
THE COMPANY SPENT BILLIONS --
BEFORE FIGURING THAT OUT.
>> I WOULD LIKE TO UNDERSTAND
BEFORE THE NEXT MEETING -- TO
UNDERSTAND HOW WE DO THIS T. IS
THIS OF INTEREST TO ANYONE ON
THE COMMITTEE?
>> I HAVE A QUESTION FOR YOU --
COULD YOU TAKE A SERIES OF MRI'S
FROM PEOPLE AT VARIOUS STAGES OF
DISEASE AND COME UP WITH
OBJECTIVE MEASURES AND USE THOSE
AS A BASELINE AGAINST WHICH YOU
COULD MEASURE RESPONSE TO
THERAPY?
IN PEOPLE WHO ARE BEING TREATED
OR ARE THE -- IS THE DAMAGE --
INDIVIDUAL TO EACH PERSON THAT E
YOU COULD NOT TAKE THAT APPROACH
>> OBVIOUSLY FROM THE GRAPH I
SHOWED YOU THE VERGE ANNES IS
PRETTY GREAT PATIENT TO PATIENT
BUT STILL IF YOU'VE BEEN
FOLLOWING A PATIENT AND THAT IS
WHAT WE TRY TO DO IN OUR STUDIES
IS FOLLOW THEM AT BASELINE
BEFORE YOU TREAT THEM SO YOU
UNDERSTAND THEIR PERSONNEL
PERSONAL TRAJECTORY AND I SEE
DAN'S POINT AND WE SEE IT IN OUR
DUCHENNE MOUSE MODELS WITH
TRYING TO DO GENE THERAPY AT
LATER STAGES OF DISEASES.
IT'S BEEN SO PREDOMINANT AT THAT
POINT THAT EVEN THOUGH YOU PUT
BACK WHAT IS MISSING THE MUSCLES
ARE NOT CORRECTING AND SO YOU DO
HAVE TO THEN GO DOWN AND TWEAK
THE PATH WAYS THAT HAVE BEEN 7
DISRUPTED BY WHATEVER THE EVENT
WAS.
SO IT MAY BE THAT TURNING OFF
DUCHENNE 4 IS NOT SUFFICIENT.
YOU HAVE TO DO THAT FIRST BUT
THEN DO THINGS THAT WILL RESET
THE NORMAL EQUILIBRIUM AS A
FOLLOW-UP TO THAT.
I DO GET YOUR POINT NOW THAT I
THINK BY THE A LITTLE BIT.
>> THANK YOU FOR THAT
SUGGESTION.
THE REMAINING FEW MINUTES ONE
THING THAT WE WANTED TO GET
FEEDBACK ON IS ARE WE READY FOR
INPERSON MEETINGS.
DO WE WANT TO CONTINUE WITH THE
VIRTUAL FORMAT.
A HYBRID FORMAT?
WE'RE OPEN FOR FEEDBACK.
I KNOW THAT AT THE DIRECTOR'S
LEVEL -- THE HYBRID APPROACH HAS
BEEN WORKING VERY WELL.
WE HAVE THE TECHNOLOGY AND AT
ANY GIVEN TIME A THIRD TO A HALF
OF INSTITUTE AND CENTER
DIRECTORS ARE IN THE ROOM AND
THE REST OF THE PEOPLE ARE ON
ZOOM.
7 AND THE PEOPLE WHO ARE IN THE
ROOM ARE USING THEIR LAPTOPS AND
IT IS EFFECTIVELY A LAPTOP
DRIVEN OR ZOOM DRIVEN MEETING
BUT THERE IS THE OPPORTUNITY TO
INTERACT OBVIOUSLY IN PERSON.
AS WELL.
COMMENTS?
A FEW PEOPLE ARE SMILING BUT I
DON'T KNOW WHAT THAT MEANS?
>> THERE WAS A SURVEY ABOUT
THAT.
I WOULD LIKE TO GO BACK TO
PERSON.
AND A HYBRID OPTION IS THE BEST.
>> GENE YOU CAME ON VIDEO.
DO YOU HAVE A COMMENT?
>> I JUST WANTED TO SMILE.
I THINK THE HYBRID COULD WORK
AND GIVE PEOPLE THE OPTION.
PERSONALLY I DON'T LOOK FORWARD
TO GOING FROM BALTIMORE TO
BETHESDA WITH A LOT OF
ENTHUSIASM BUT IT'S AN IMPORTANT
MEETING.
I KIND OF WANT TO SEE WHO'S
COMING WHICH IS NOT GOOD
ETIQUETTE.
BUT IF IT LOOKS LIKE WE WOULD
HAVE A GOOD TURN OUT I WOULD BE
GAME FOR DOING THAT.
>> ANY MORE COMMENTS?
AND PEOPLE COMING FROM FARTHER
AWAY.
LIKE ERIC COMING FROM FROM AND
DENISE COMING FROM IDAHO.
>> AND HERE I WAS WHINING.
>> MY CONCERN WOULD BE HOW WOULD
THE TAB GET PICKED UP FOR MY
TRAVEL COSTS BECAUSE I'M PRETTY
LIMITED IN EXTRA RESOURCES.
>> DENISE WE HAVE A BUDGET FOR
OUR COMMITTEE AND WE SUPPORT THE
TRAVEL FOR ALL OF OUR MEMBERS TO
THE MEETINGS.
>> EVEN FROM IDAHO?
>> EVEN FROM IDAHO!
>> IT'S JUST LIKE A PAIN IN THE
BUTT YOU DRIVE FOUR HOURS TO
SAVE MONEY TO FLY OUT OF SALT
LAKE.
I WOULD LOVE TO COME BACK TO THE
EAST COAST.
I'VE GOT FAMILY THAT I WOULD
LOVE TO HOOK UP WITH AGAIN AND
AN OLD FRIEND.
>> THERE YOU GO.
>> MANY OF US ARE OBVIOUSLY,
WE'VE HAD PLENTY OF ZOOM
MEETINGS TO FILL THE PAST COUPLE
OF YEARS SO, ITS A TREMENDOUS
VALUE TO MEET IN PERSON AND I
WOULD BE SUPPORTIVE OF THAT AND
IT'S A MATTER OF BALANCING ALL
OF THE COMMITMENTS.
I'M SUPPORTIVE OF IN PERSON
INTERACTIONS
>> NATALIE, DID YOUR VIDEO COME
ON?
>> I REALLY DO MISS THE IN
PERSON INTERACTION AND WOULD
VALUE ANOTHER IN PERSON MEETING
AND MAYBE HAVING AN AND I HYBRID
APPROACH BECAUSE NOT EVERYBODY
COULD MAKE IT BUT BEING IN
PERSON -- I THINK IT'S JUST
GREAT TO BE ABLE TO SEE PEOPLE.
>> DEFINITELY HEAR A MAJORITY
WOULD LIKE TO EVER AN IN PERSON
MEETING.
>> THE OCTOBER MEETING WE'RE
SCHEDULED FOR 1:00 TO 5:00 P.M.
SO IN PERSON MEETING WE WOULD
WANT TO GO BACK TO 8:5:00 OR
9:00 TO 5:00.
BUT PERHAPS WE COULD DO THE
OCTOBER MEETING HYBRID AND THEN
FOR THE SPRING MEETING OF 2023
ARRANGE IT FOR A FULL DAY AND IN
PERSON FOR WHOEVER CAN MAKE IT
AND HYBRID FOR THOSE WHO CANNOT.
DOES THAT SOUND GOOD?
>> THAT GIVES US TIME TO SEE
WHAT IS GOING ON WITH
CORONAVIRUS.
I THINK IT'S A WISE CHOICE.
I PERSONALLY WOULD LOVE TO BE
THERE IN PERSON -- -- IN TERMS
OF TRAVEL AND EQUIPMENT.
THERE IS A HAZARD FOR ME.
>> AND THAT IS THE WISDOM OF
HAVING THE HYBRID OPTION BECAUSE
IF WE PLAN THE MEETING SIX
MONTHS IN ADVANCE BUT MAYBE ONE
MONTH OR EVEN TWO WEEKS IN
ADVANCE OH, MY GOSH THE PANDEMIC
IS GETTING HOT ENOUGH THAT A LOT
OF PEOPLE WOULD BE UNCOMFORTABLE
FLYING OR WHAT HAVE YOU AND THEN
WE STILL HAVE THE VIDEO IN THE
BACK POCKET AND REFUNDABLE
TICKETS SINCE ALL THE GOVERNMENT
PURCHASED TICKETS ARE THAT WAY.
7 I THINK IT'S A GOOD WAY TO GO.
>> WALTER.
>> I WAS THINKING IF WE DO A
HYBRID IN TERMS OF THE TIMING
THE COUNCIL PUSH THE START TIME
TO LATER BECAUSE PEOPLE ON THE
WEST COAST TIME ZONES -- PEOPLE
I'M NOT SURE WHO'S FROM
CALIFORNIA.
BUT IF THERE ARE ARE MAYBE
STARTING LATER AND GOING A
LITTLE LATER
>> IF DENISE CHOOSES NOT TO COME
FOR WHATEVER REASON THAT SHE IS
IN THE WESTERN TIME ZONE.
SO I BELIEVE.
MAYBE SHE IS IN MOUNTAIN.
>> I BELIEVE MOUNTAIN.
>> STILL TWO HOURS.
>> I'M IN SAN DIEGO.
>> OBSERVES OKAY.
WELL LET'S GO OUT THERE.
>> WHY NOT?
>> THAT IS WHAT WE'VE DONE AS
WELL.
WE STARTED LATER WITH THE
HYBRID.
AND WE HAVE A COUNCILMEMBER
BASED IN THE UK SO WE'RE
COVERING A LOT OF TIME ZONES.
OKAY.
7 IF NO ONE ELSE HAS ANY OTHER
THINGS TO ADD I'M GOING TO HAND
THIS OVER TO GLEN TO CLOSE OUT
THIS VERY PRODUCTIVE MEETING.
SO THANK YOU ALL.
>> THANKS, DR. BIANCHI AND THANK
YOU TO ALL OF OUR PRESENTERS
TODAY FOR EXCELLENT
PRESENTATIONS AND EVERYTHING -- EVERYBODY
THAT ENGAGED.
AND THANK YOU FOR YOUR COMMENTS
ABOUT TOPIC MEETINGS AND FORMAT
OF MEETINGS.
WE'LL MAKE UP A PLAN AND LET YOU
KNOW.
SO AS I MENTIONED OUR NEXT
MEETING IS OCTOBER 3rd.
1:00 TO 5:00.
SOME SORT OF HYBRID FOR THAT.
PERHAPS LOCAL PEOPLE WILL WANT
TO TRAVEL TO BETHESDA AND
OTHERWISE GREAT MEETING.
THANKS TO EVERYBODY.
>> THANKS AND HAVE A HEALTHY
SUMMER WE HOPE.