HI, EVERYBODY, SO I'M GLEN
NUCKOLIS AND I'M THE DESIGNATED
FEDERAL OFFICIALS FOR THE
MUSCULAR DYSTROPHY COORDINATING
COMMCOORDINATECOMMITTEE.
THIS IS OUR 28th MEETING OF
THIS COMMITTEE.
LET'S START BY DOING
INTRODUCTIONS OF THE COMMITTEE
MEMBERS AND I'LL DO A ROLL CALL
STARTING WITH DIANA BIANCHI.
>>Diana Bianchi: HELLO,
EVERYBODY, I'M SIGNING IN
REMOTELY FROM MASSACHUSETTS.
I AM THE DIRECTOR OF THE
NATIONAL INSTITUTE OF CHILD
HEALTH AND HUMAN DEVELOPMENT AND
HAPPY TO REPRESENT OUR IC ON
THIS COMMITTEE.
>>Glen Nuckolis: THANK YOU.
NEXT IS IT THERESA AN AUGUSTINE.
>>CAN YOU HEAR ME?
>>Glen Nuckolis: YES.
>>I'M HEARING IMPAIRED.
I'M THERESA SAN AUGUSTINE FROM
THE INSTITUTE OF DISABILITY,
INDEPENDENT LIVING AND WE HAVE A
RESEARCH.
I WANTED TO SAY A LITTLE THING
THAT I ADMIRE ALL THE WORK YOU
HAVE DONE VERY WELL AND IT MAY
BE MY LAST MEETING SO I WOULD
HAVE INSTITUTE TO REPRESENT THIS
COMMITTEE.
AND OF COURSE, OUR MOTHER
INSTITUTE IS THE ADMINISTRATION
FOR COMMUNITY LIVING.
SO, THANK YOU EVERYONE FOR THE
RESEARCH THAT YOU HAVE DONE IN
THE PAST.
>>Glen Nuckolis: THANK YOU,
THERESA AND THANK YOU FOR ALL
THE WORK THAT YOU'VE DONE ON THE
COMMITTEE OVER QUITE A NUMBER OF
YEARS.
WE REALLY APPRECIATE YOUR
VALUABLE CONTRIBUTIONS.
NEXT ON THE COMMITTEE IS CHRIS
ANSELMO.
>>HI, EVERYONE, I'M A MARKET
INTELLIGENCE DIRECTOR AT THE
MUSCULAR DYSTROPHY ASSOCIATION
AND I'M ALSO A MEMBER OF THE MDA
COMMUNITY.
AND IT'S WONDERFUL TO BE WITH
YOU TODAY.
>>Glen Nuckolis: THANK YOU.
NEXT OUR MEMBER LINDSEY CRISWELL
IS NOT ABLE TO JOIN TODAY BUT
REPRESENTING THE INSTITUTE IS
BOB CARTER.
>>GOOD AFTERNOON, GLAD TO BE
JOINING YOU AND LOOK FORWARD TO
HEARING THE PROGRESS.
THANK YOU.
>>Glen Nuckolis: THANK YOU,
BOB.
GUSTAVO DZIEWCZAPOLSKI.
>>HELLO EVERYONE.
SCIENTIFIC DIRECTOR AT THE
ORGANIZATION QCMD FOR MUSCULAR
DYSTROPHIES.
>>Glen Nuckolis: THANK YOU.
EMILY CARILLI.
>>I'M A PEDIATRIC NUR OLE LIST
OF THE DIVISION OF NEWER OLELY
AT THE FDA.
>>Glen Nuckolis: THANK YOU.
JEAN.
>>MEDICAL OFFICER WITH THE
CENTERS FOR MEDICARE AND
MEDICAID SERVICES.
>>Glen Nuckolis: THANK YOU.
MICHAEL GOLDSTEIN.
>>MICHAEL.
>>HEY, EVERYBODY, THIS IS
MICHAEL GOLDSTEIN A APOLOGIZE
I'LL PLAYING WITH MY CAL RA AND
I CAN'T GET IT ON BUT I'M FROM
THE OBSERVE SECURITY
ADMINISTRATION AND THE DIRECTOR
-->>IF I HAVE TROUBLE WITH MY
CAMERA I'LL JOIN MY BY MY PHONE.
AND I CAN PUT ON MY CAMERA.
>>Glen Nuckolls: THANK YOU.
ALICIA KEEN.
>>GOOD AFTERNOON.
I'M THE GENETIC SERVICES BRANCH
CHIEF RESOURCE AND SERVICES
ADMINISTRATION.
>>Glen Nuckolls: THANK YOU.
JIM KYLIE.
>>GOOD AFTERNOON, EVERYONE.
GOOD TO SEE YOU.
JIM KYLIE THE DIRECTOR OF THE
DIVISION OF LUNG DISEASES AT THE
NATIONAL HEART LUNG AND BLOOD
INSTITUTE.
>>Glen Nuckolls: THANK YOU.
WALTER KOROSHETZ.
>>GOOD AFTERNOON.
I'M THE DIRECTOR OF THE NINDS.
>>Glen Nuckolls: THANK YOU.
HELLO, I'M MARIE' LENA MCGWIRE
THE PROGRAM MANAGER FOR THE DUE
SCHENN MUSCULAR DYSTROPHIES
RESEARCH PROGRAM WHICH IS UNDER
THE DEPARTMENT OF DEFENSE.
>>Glen Nuckolls: DENISE MILLER.
>>HI, DIN SEES WITH THE
CAREGIVERS ALLIANCE AND I HELP
IN IDAHO WITH OUR ALZHEIMER'S
DISEASE AND RELATED DEMENTIA AND
I'M A DISABILITY ADVOCATE AND
WHO KNOWS WHAT ELSE I CAN GET
INTO.
>>Glen Nuckolls: THANK YOU,
DENISE.
DAN PEREZ.
>>GOOD EVENING, GOOD DAY,
EVERYONE.
DAN PEREZ.
I'M CO-FOUNDER AND BOARD
DIRECTOR.
AND OBVIOUSLY I'M A PATIENT
JUSTICE AND LIFELONG ADVOCATE
FOR RESEARCH IN MUSCULAR
DYSTROPHY.
THANK YOU.
>>Glen Nuckolls: THANK YOU.
NATALIE STREET.
>>HI.
MY NAME IS NATALIE STREET I'M A
HEALTH SCIENTIST ON THE RARE
DISORDERS AND HEALTH OUTCOMES
TEAM WHICH HOUSES THE MUSCULAR
DYSTROPHY ACTIVITIES AT THE
CENTERS FOR DISEASE CONTROL IN
PREVENTION.
>>Glen Nuckolls: THANK YOU.
ERIC WANG.
>>HI, EVERYBODY, I'M ASSOCIATE
PROFESSOR AT UNIVERSITY OF
FLORIDA.
I'M ALSO A COMMUNITY ADVOCATE
FOR MUSCULAR DYSTROPHY.
>>Glen Nuckolls: THANK YOU.
THOSE ARE OUR COMMITTEE MEMBERS.
WE HAVE A COUPLE OF OTHER PEOPLE
HERE IN THE ROOM AND I WANT
TODAY GO AROUND AND HAVE THEM
INTRODUCE THEMSELVES.
WE'LL START WITH EMILY CARIFI.
>>I'M THE PROGRAM OFFICER FOR
THE MUSCLE DISEASES AND
THERAPIES PROGRAM AT NIAMS.
>>HELLO EVERYBODY, I'M PAUL,
VICE PRESIDENT OF PUBLIC POLICY
AND ADVOCACY AT THE MUSCULAR
DYSTROPHY ASSOCIATION.
GRATEFUL TO BE HERE.
>>HI, EVERYBODY, I'M MARIE
PIERRE AND I'M A HEALTH PROGRAM
SPECIALIST AT NINDS.
>>HI, EVERYONE, MY NAME IS
JUSTIN WILSON AND I'M A SCIENCE
ANNALIST HERE IN NIAMS.
>>I'LL GALE LESTER THE DIRECTOR
OF EXTRAMURAL RESEARCH AT NIAMS.
>>I'M KATE SENIOR DIRECTOR OF
POLICY.
>>Glen Nuckolls: THANK YOU,
EVERYBODY.
SO, YOU KNOW, AGAIN, WELCOME TO
THE 28th MEETING OF THE
MUSCULAR DYSTROPHY COORDINATING
COMMITTEE.
THIS MEETING IS BEING CONDUCTED
IN COMPLIANCE WITH THE -- TO
INFORM DECISION-MAKING BY
OFFICIALS AND AGENCIES IN THE
EXECUTIVE BRANCH IN THE MEDICAL
GOVERNMENT IN A MANNER
TRANSPARENT AND FREE OF
CONFLICTS.
THERE'S NO CLOSED SESSION
PLANNED FOR TODAY'S MEETING.
WE DON'T ANTICIPATE DISCUSSION
OF ACTIONS SPECIFIC TO THE
ORGANIZATIONS OR FINANCIAL
INTEREST OF OUR MEMBERS.
SO THERE'S NO NEED FOR ANY
RECUSEALS.
WE DID POST A NOTICE IN THE
FEDERAL REGISTER ABOUT THIS
MEETING AND WE INVITED PUBLIC
COMMENTS WE DID NOT RECEIVE A
REQUEST SO WE DID NOT SCHEDULE A
PUBLIC COMMENT PERIOD DURING
THIS MEETING.
THE MEETING IS BEING STREAMED
LIVE VIA THE NIH VIDEO CAST THAT
IS VIDEO CAST.NIH.GOV AND IT'S
ALSO RECORDED AND ARCHIVED AND
WE PROVIDE LINCOL PROVIDE LINK .
FOR THOSE WHO ARE CONNECTED
THROUGH THE ZOOM, IF YOU ARE
COMMITTEE MEMBER OR OTHER
DESIGNATED PANELIST, YOU CAN
JUST RAISE YOUR VIRTUAL HAND OR
JUST UNMUTE AND ASK QUESTIONS
AND CONTRIBUTE TO THE
CONVERSATION.
IF YOU ARE NOT A COMMITTEE
MEMBER OR DESIGNATED PANELIST,
THEN YOU CAN SUBMIT QUESTIONS
VIA THE CHAT FEATURE AND WE'LL
READ THOSE QUESTIONS OUT FOR
YOU.
FOR THOSE OF YOU HERE ON THE
ROOM, AS YOU DID WHEN
INTRODUCING YOURSELVES REMEMBER
TO CLICK YOUR TABLE MICROPHONE
TO SPEAK AND CLICK IT AGAIN TO
TURN IT OFF.
SO WE'RE CURRENTLY 17thING
NOMINATIONS FOR PUBLIC MEMBERS
TO THE MDCC FOR THE TERMS OF
2024 THROUGH 2026 AND WE'LL POST
IN THE CHAT A LINK TO THE
FEDERAL REGISTER NOTICE THAT IS
DESCRIBED THE NOMINATION
PROCESS.
AND NOMINATIONS MUST BE RECEIVED
BY APRIL 28th.
THANK YOU FOR THOSE WHO HELPED
PREPARE FOR THIS MEETING.
INCLUDING MARIE PEE I REMEMBER,
ELLA BLUE, DERIC SMITH, EMILY,
MELISSA PEREASY I'LL TURN IT
OVER TO Dr. BIANCHI FOR HER
REPORT.
>>Diana Bianchi: THANK YOU SO
MUCH, GLEN, AND THEN WELCOME TO
EVERYONE.
DERIC, MAY HAVE THE SLIDES,
PLEASE.
I'D LIKE TO ACKNOWLEDGE AT THE
BEGINNING OF MY SLIDE
PRESENTATION THE VERY HELPFUL
INPUT OF BOTH GLEN AND ELIZABETH
AND MELISSA PARECE.
SO TODAY I'M GOING TO DISCUSS
THE APPROPRIATION AND THE FISCAL
YEAR 24 PRESIDENT'S BUDGET
REQUEST.
I'M GOING TO GIVE A LITTLE BIT
OF AN OVER OVERVIEW OVER NIH PY
UPDATES AND RESEARCH AND THEN
JUST HIGHLIGHT THE NIH-WIDE
STRATEGIC PLAN FOR DIVERSITY,
EQUITY, INCLUSION AND
IMPORTANTLY ACCESSIBILITY.
AND THEN A FEW THINGS THAT YOU
MIGHT BE INTERESTED IN WITH
REGARDS TO THE ADVISORY
COMMITTEE TO THE NIH DIRECTORS
WORKING GROUP RECOMMENDATIONS.
JUST A VERY BRIEF HIGHLIGHT ON
ARPA-H.
I KNOW I MENTIONED IT LAST TIME.
AND WE'LL GET INTO THE
HIGHLIGHTS OF THE ADVANCES OF
MUSCULAR DYSTROPHY RESEARCH.
NEXT SLIDE, PLEASE.
SO MONEY.
NEXT SLIDE.
SO, WE ARE NOW WELL INTO FISCAL
YEAR '23 AND THIS CURRENT YEAR
THE TOTAL NIH BUDGET IS
$47.5 BILLION WHICH WAS AN
INCREASE OF $2.5 BILLION OVER
FISCAL YEAR '22.
THE FISCAL YEAR '24 PRESIDENT'S
BUDGET REQUEST WAS RELEASED
PUBLICLY ON MARCH 13th.
THE REQUEST FOR NIH WAS 48.6
WHICH WAS AN INCREASE OF O
$0.9 BILLION AND FOR MOST
INSTITUTES IN PROGRAMS, IT WAS
ESSENTIALLY A GNAT BUDGET.
NORMALLY, AROUND THIS TIME, WE
WOULD PREPARE FOR HOUSE AND
SENATE APPROPRIATIONS HEARINGS.
THERE IS A NEW CHAIR OF THE
HOUSE OF APPROPRIATIONS
COMMITTEE AND THEY ARE TAKING A
DIFFERENT APPROACH.
WHEREAS THE DIRECTOR ATTENDED
THE HOUSE APPROPRIATIONS
HEARINGS FLANKED BY SEVERAL
INSTITUTES DIRECTORS, THIS YEAR
DR. TABAK IS GOING TO BE GOING
IT ALONE BY REQUEST FROM THE
HOUSE, THE SENATE MEETINGS ARE
LIKE THEY'VE BEEN WITH ACTING
NIH DIRECTOR DR. TABAK AND
SEVERAL OF THE LARGER INSTITUTES
DIRECTORS.
LARGER INSTITUTES.
NEXT SLIDE.
SO JUST A FEW THINGS THAT I
THINK WOULD BE HELPFUL TO BE
AWARE OF AND THERE'S CERTAINLY A
PUSH TO MAKE THE RESULTS OF NIH
FUNDED RESEARCH MORE ACCESSIBLE
TO THE PUBLIC SO IN 2022 THE
WHITE HOUSE OFFICE OF SCIENCE
AND TECHNOLOGY POLICY RELEASED A
MEMORANDUM ESTABLISHING NEW
GUIDANCE FOR IMPROVING PUBLIC
ACCESS TO SCHOLARLY PUBLICATIONS
AND DATA RESULTING FROM
FEDERALLY SUPPORTED RESEARCH.
SINCE WE'RE JUST ABOUT AT THE
TIME WHEN YOU ARE GOING TO BE
PAYING YOUR TAXES, YOU WOULD
LIKE TO SEE THE RETURN ON YOUR
INVESTMENTS SO WE WANT TO MAKE
IT POSSIBLE FOR YOU.
THE NIH PUBLIC ACCESS PLAN
OUTLINES NIH'S APPROACH TO
IMPLEMENTING THE NEW GUIDANCE
AND IT WILL INSTITUTE A ZERO
EMBARGO PERIOD ON PUBLICATIONS
SO THAT THERE'S A VERY TIMELY
WAY TO RECEIVE THE RESULTS OF
NIH FUNDED RESEARCH WITH NO
DELAY.
CURRENTLY, FOR EXAMPLE, IF
APPROXIMATE I HAVE A PUB WILL
INDICATION AND I AM MAKING IT
PUBLICLY AVAILABLE, I HAVE TO
ADHERE TO THE PUBLISHER
STANDARDS AND I HAVE TO LOOK UP
EACH TIME DOES THAT PUBLISHER
ALLOW ONE MONTH OR 12 MONTHS, 12
MONTHS BEING THE MAJORITY SO
PUBLISHERS DON'T WANT THE PUBLIC
TO HAVE ACCESS TO THIS
INFORMATION BECAUSE IT AFFECT
THE BUSINESS MODEL BUT THE WHITE
HOUSE IS RECOMMENDING THAT
THERE'S A ZERO EMBARGO PERIOD SO
THERE IS A REQUEST FOR
INFORMATION.
YOU CAN STILL RESPOND.
YOU CAN RESPOND UP TO
APRIL 24th IF YOU HAVE
OPINIONS ON THIS AND HERE IS THE
LINK AND FEEL FREE TO WEIGH IN
ON THE SIDE OF MORE INFORMATION
OR THE PUBLISHER BIS MONTHSEL.
NEXT SLIDE, PLEASE.
THE NEW PROPOSED FRAMEWORK FOR
SIMPLIFIED REVIEW OF GRANT
APPLICATIONS SO THE NIH PROPOSES
TO REORGANIZE THERE ARE FIVE AND
THEY'RE RECOMMENDING WE GO TO
THREE WITH FACTOR ONE BEING THE
IMPORTANCE OF THE RESEARCH.
THIS IS A CONSOLIDATION OF THE
CURRENT CRITERIA SIGNIFICANCE
AND INNOVATION.
FACTOR TWO, IS FEASIBILITY AND
RIG OR BASED ON THE CRITERION
APPROACH AND FACTOR THREE IS
EXPERTISE AND CREE SOU RESOURCE.
THIS IS THE CURRENT CRITERIA
INVESTIGATOR AND THE
ENVIRONMENT.
THE IMPORTANCE OF THE RESEARCH,
THE RIGGER OF THE RESEARCH, THE
FEASIBILITY OF THE RESEARCH AND
THE CONTRIBUTIONS OF THE
INVESTIGATOR AND INSTITUTION ARE
FRAMED IN THE CONTEXT OF THE
PROPOSED RESEARCH.
IF YOU WOULD LIKE TO LEARN MORE,
HERE IS THE LINK A LOT THE
BOTTOM OF THE SLIDE.
I KNOW THAT THIS PARTICULAR
AUDIENCE IS VERY INTERESTED IN
THE FUTURE OF THE NIH'S
UNDIAGNOSED DISEASE NETWORK FOR
THE UDN.
THE GOAL OF THE UDN IS TO
ESTABLISH AND TEST A NEW MODEL
OF COLLABORATION ACROSS CLINICAL
SITES TO EXTEND THE NIH UDP
PROGRAM THE UNDIAGNOSED DISEASES
PROGRAM TO EXTRAMURAL CENTERS.
THE CURRENT PROGRAM WILL EXPIRE
THIS SUMMER IN JULY.
MULTIPLE INSTITUTES, INCLUDING
NICHD ARE FUNDING A DATA
MANAGEMENT AND COORDINATING
CENTER THAT WILL START THIS
SPRING AND SUMMER TO PROVIDE
INFRASTRUCTURE AND RESEARCH
SUPPORT FOR A NEW NETWORK OF
CLINICAL SITES.
CLINICAL SITES CAN APPLY FOR
DESIGNATION AS A DIAGNOSTIC
CENTER OF EXCELLENCE TO ACCESS
COORDINATING CENTER RESOURCES SO
THIS IS THE WAY THAT WE WILL
CONTINUE THE UNDIAGNOSED
DISEASES NETWORK.
NOW WE MOVE TO THE NIH WIDE
STRATEGIC PLAN FOR DIVERSITY,
EQUITY, INCLUSION AND
ACCESSIBILITY WHICH IS JUST
RECENTLY RELEASED IN MARCH.
THE MISSION OF THIS PLAN IS TO
EMBRACE -- THE MISSION FOR NIH
IS TO EMBRACE, STRENGTHEN AND
INTEGRATE DIVERSITY, EQUITY,
INCLUSION AND ACCESSIBILITY FOR
DEIA ACROSS ALL NIH ACTIVITIES
AND SERVICE OF THE NIH MISSION.
THE VISION IS THAT NIH WILL BE A
PEOPLE-CENTERED ORGANIZATION
WHERE THE WORKFORCE AND RESEARCH
PRIORITIES REFLECT OUR NATION'S
DIVERSITY AND ALL PEOPLE FEEL A
SENSE OF BELONGING AS THEY
ADVANCE THE NIH MISSION.
THE STRATEGIC PLAN IS PUBLICLY
AVAILABLE.
WE DID WANT TO MENTION, TO THIS
AUDIENCE, THAT ON ONE OF THE
PAGES, WE HAVE HIGHLIGHTED THE
NATIONAL CENTER FOR MEDICAL
REHABILITATION RESEARCH SO TO
EMPHASIZE THE FACT THAT
ACCESSIBILITY IS AN IMPORTANT
PART OF THIS PLAN GOING FORWARD.
SO THE OBJECTIVES OF THE PLAN
ARE TO GROW AND SUSTAIN DIEA SO
THIS GRAPHIC ON THE RIGHT
"SQUARE OFF" PART OF -- THERE'S
A TWO-PAGE EXECUTIVE
HIGHLIGHTER.
EXECUTIVE SUMMARY OF THE PLAN,
WHICH WAS ALSO AVAILABLE
PUBLICLY.
THE OBJECTIVES ARE TO GROW AND
SUSTAIN DEIA TO STRUCTURAL AND
CULTURAL CHANGE AND TO IMPLEMENT
ORGANIZATIONAL PRACTICES TO
CENTER AND PRIORITIZE DEIA IN
THE WORKSHOP IN THE WORKFORCE.
AND THEN TO ADVANCE DEIA THROUGH
RESEARCH.
THE CROSS CUTTING THEMES INCLUDE
PROMOTION OF TRANSPARENCY,
COMMUNICATION, AND ENGAGEMENT,
AND TO FOSTER SUSTAINABLE CHANGE
AND HARNESS DATA.
WE'RE MOVING TO THE ADVISORY
COMMITTEE TO THE DIRECTOR.
THAT'S TO DR. TABAK.
THERE'S A WORKING GROUP ON
DIVERSITY WHICH IS A SUBGROUP ON
INDIVIDUALS WITH DISABILITIES.
PEOPLE WITH DISABILITIES ARE THE
SINGLE LARGEST POPULATION AND
THE FASTEST GROWING MINORITY
POPULATION IN THE UNITED STATES.
PEOPLE WITH DIS A LOTS REPRESENT
ABOUT 9% OF THE SCIENTIFIC
WORKFORCE.
RESEARCHERS WITH DISABILITIES
ARE UNDER REPRESENTED IN NIH
FUNDING.
DATA ARE PUBLICLY AVAILABLE
ABOUT DISABILITY PREVALENCE IN
THE NIH AND THE BROADER RESEARCH
WORKFORCE OR THE PARTICIPATION
OF PEOPLE WITH DISABILITIES IN
NIH FUNDED STUDIES.
CURRENT NIH EFFORTS TO COLLECT
DISABILITY DATA ON THE
INADEQUATE.
NEXT SLIDE, PLEASE.
AND SO THE GROUP CONVICTION WITH
DISABILITIES MADE SOME
SUGGESTIONS IN THE WORKING GROUP
REPORT.
THEY SUGGESTED TO O UPDATE THE
NIH MISSION STATEMENT CURRENTLY
IT IS TO SEEK FUNDAMENTAL
KNOWLEDGE ABOUT THE NATURE AND
BEHAVIOR AND THE APPLICATION OF
THAT KNOWLEDGE TO ENHANCE
HEALTH, LENGTH LIFE AND REDUCE
ILLNESS AND DIS A LOT.
WERE ANY STRUCTURE ABLEISM THAT
MAY EXIST AND DISABILITY
INCLUSION INTERNALLY AND FOR THE
NIH FUNDED WORKFORCE
EXTRAMURALLY.
THEY ALSO RECOMMENDED EXPANDING
EFFORTS TO INCLUDE DISABILITY
COMMUNITIES AND THE PERSPECTIVES
OF PEOPLE WITH DISABILITIES AND
TO CONDUCT RESEARCH ON
DISABILITY HEALTH AND HEALTHCARE
DISPARITIES AND EQUITY.
THEY RECOMMENDED THAT WE ENSURE
THAT DISABILITY INCLUSION AND
ANTI ABLEISM ARE CORE COMPONENTS
OF ALL NIH, DEIA EFFORTS AND TO
MAINTAIN ACCOUNTABILITY FOR
DISABILITY INCLUSION EFFORTS.
SO AGAIN, I WOULD JUST LIKE TO
BRIEFLY MENTION SOMETHING ABOUT
ARPA-H.
SO, IN THE FISCAL YEAR
'23 BUDGET, CONGRESS PROVIDED
ARPA-H WITH $2.5 BILLION THAT IS
INDEPENDENT OF NIH.
THE ARPA-H DIRECTOR REPORTS
DIRECTLY TO THE HHS SECRETARY,
ALTHOUGH NIH PROVIDES
INFRASTRUCTURE TO ARPA-H.
FOR EXAMPLE, SUCH AS HUMAN
RESOURCES.
ARPA-H, YOU MAY HAVE BEEN
READING IN THE PRESS ABOUT ALL
THIS COMPETITION FOR ARPA-H
LABORATORIES OR SITES FOR
ARPA-H.
THERE ARE NO INTERNAL RESEARCH
LABORATORIES.
AND IMPORTANTLY FOR THIS
AUDIENCE, ARPA-H IS DISEASE
ACKNOWDIS AGNOSTICSO I'VE HEARD.
WE REALLY WANT SOME PEDIATRIC
PROJECTS IN ARPA-H.
ANYONE CAN PROPOSE AN IMPORTANT
PROBLEM THAT NEEDS TO BE SOLVED
AND IT'S DISEASE AND DEMOGRAPHIC
AGNOSTIC.
SO, WHAT ARPA-H IS LOOKING FOR,
ARE PROGRAMS MANAGERS WHO HAVE
INNOVATIVE IDEAS AND THEY WILL
ACT AS THE CATALYST FOR THAT
PROGRAM AND THEY ARE GIVEN A LOT
OF AUTONOMY TO MAKE DECISIONS SO
ARPA-H IS SEEKING THESE PROGRAM
MANAGERS WHO EY IDEALLY WHO ARE
AGGRESSIVE AND WILLING TO FAIL
QUICKLY BUT THEY NEED TO
IDENTIFY DIFFICULT
HEALTH-RELATED CHALLENGES AND
THEY NEED TO ASSEMBLE, THEY NEED
TO HIRE AND ASSEMBLE THEIR TEAMS
FROM INDUSTRY, ACADEMIA, AND
GOVERNMENT TO COLLECTIVELY SOLVE
THESE PROBLEMS.
THERE IS AN OPEN OPPORTUNITY
CALLED DASH, WHICH IS MODELED
AFTER MARCH MADNESS, TO PITCH
HIGH-RISK, HIGH-IMPACT RESEARCH
THAT AFFECTS ANY OR MULTIPLE
POPULATIONS.
SO WE SUGGEST THAT IF YOU ARE
INTERESTED IN THOSE PROGRAMS, GO
TO THE ARPA-H WEBSITE.
NOW WE'LL GET TO THE ADVANCES
AND MUSCULAR DYSTROPHY RESEARCH.
SO THE FIRST PAPER WAS PUBLISHED
IN E NEURO AND SUPPORTED BY
NINDS HE WAS ENTITLED
IMPLICATIONS FOR CENTRAL NERVOUS
SYSTEMS SYMPTOMS IN MIO TONIC
DYSTROPHY SO PATIENTS WHO HAVE
MIO TONIC DYSTROPHY EXPERIENCE
CENTRAL NERVOUS SYSTEM THAT
INCLUDES HYPER SOMNIA AND
INCREASE SENSITIVITY TO BAR BIT
TO YOU ITS AND.
PROTEIN 2 OR MBNL2 FUNCTION IS A
MAJOR DRIVER OF CENTRAL NERVOUS
SYSTEM SYMPTOMS IN DM1.
IT WOULD EFFECT THE GAB A A AND
MODULATION AND MAY SUGGEST THAT
STRATEGIES TO TREAT THE SYMPTOMS
EXPERIENCED BY PEOPLE WITH DM1
MIGHT INCLUDE TARGETING THE GABA
ACCESS.
NEXT SLIDE, PLEASE.
THE THE NEXT STUDY WAS CO
SUPPORTED BY NIAGARA FALLS ICHD
AND IT WAS CRISPR CAS 9
CORRECTION OF MUSCULAR DYSTROPHY
IN MICE BY A SELF-COMPLIMENTARY
AAV DELIVERY SYSTEM.
SO IMPLYING IT THAT A REFINED
GENE EDITING APPROACH COULD
IMPROVE CORRECTION OF DMD
MUTATIONS IN ANIMAL MODELS OF
DUE SCHENN.
THEY MEDIATED GENE EDITING HAS
BEEN USED SUCCESSFULLY IN MOUSE
MODEL OF DUE SCHENN USING A
SINGLE-STRANDED AAV WAS A RATE
LIMITING FACTOR FOR 24 APPROACH
N THIS PUBLICATION, THE RESEARCH
DESIGNED A NEW METHOD USING
SELF-COMPLIMENTARY AAV TO
DELIVER CRISPR RNA FOR IN VIVO
GENE EDITING.
THIS NEW METHOD RESULTED IN
HIGHER GENE EDITING AND
RESTORATION COMPARED TO OTHER
METHODS IN ANIMAL MODELS.
AND THE METHOD TO QUANTIFY DIS
OPEN RESTORATION AFTER THE
CRISPR CAS 9 CORRECTION IS ALSO
DESCRIBED AND THIS STUDY
APPEARED AS PART OF METHODS IN
MOLECULAR BIOLOGY THAT WAS
PUBLISHED.
NEXT SLIDE.
THANK YOU.
AND THE NEXT HIGHLIGHT WAS
CO-SUPPORTED BY NICHD, NIAMS AND
NHLBI PUBLISHED IN THE JOURNAL
OF CLINICAL INVESTIGATION.
TITLED LOSS OF FUNCTION OF THE
NUCLEAR ENVELOPE PROTEIN LEMD2
CAUSES DNA DAMAGE-DEPENDENT
CARDIO MCARDMYOPHAHY SO THEY CAT
PREVENT HEART AND SKELETAL
MUSCLE.
A MUTATION IN THE GENE LEMD2
RESULTS IN LOSS OF FUNCTION OF
THE NEP AND THAT CAN CAUSE
SEVERE CARDIO MYOPATHY IN HUMANS
BUT THE UNDERLINE DISEASE
MECHANISM IS UNKNOWN AT PRESENT.
IN THIS STUDY, THE INVESTIGATORS
GENERATED MICE WITH THE
MUTATION, AND THEY SERVED AS A
PRECLINICAL DISEASE MODEL.
CARDIO MYOCYTE-SPECIFIC LEMD2
GENE THERAPY VIA AAV RESCUED
CARDIAC FUNCTION IN THE MICE.
SO, THE IMPORTANCE OF THIS IS
THAT UNDERSTANDING THE MECHANISM
OF ACTION CAN HELP UNDERSTAND
OTHER RELATED SUCH AS
'EMMER'-DREIFUSS MUSCULAR
DYSTROPHY AND WHICH IS
CHARACTERIZED BY SKELETAL MUSCLE
WASTING AND CARDIAC PATHOLOGY.
I THINK THIS IS THE LAST ONE.
BUT IN THIS PUBLICATION, THE
STUDY WAS SUPPORTED BY NIAMS,
THE LGMD1DDNA FOUNDATION AND AN
INTERNATIONAL REGISTRY AND AS
WELL AS OTHER SUPPORT PUBLISHED
IN THE CLINICAL AND
TRANSLATIONAL NEUROLOGY.
IN FEBRUARY OF 2023.
SO, THIS PAPER REALLY DISCUSSED
INCREASING UNDERSTANDING OF
MUSCULAR DYSTROPHY TYPE D1 AND
OTHERWISE KNOWN AS LGMDDD1 AND
THAT WAS ONLY IDENTIFIED
MUTATION INVOLVED WAS ONLY
IDENTIFIED IN 2012 BUT IT'S ONE
OF THE MORE COMMONLY DIAGNOSED
MUSCULAR DYSTROPHIES.
IT'S NATURAL HISTORY STUDY
FOLLOWED 122 PATIENTS WITH
LGMDD1 FROM 14 DIFFERENT
COUNTRIES OVER A PERIOD OF 2.5
YEARS.
THEY IDENTIFIED GENOTYPE AS THE
LIKELY SOURCE FOR FI PHENOTYPIC
VARIABILITIES AND THE GENOTYPE
APPEARS TO IMPACT SEVERAL
ASPECTS WITH IMPLICATIONS FOR
CLINICAL TRIALS.
SO, DEPENDING ON THE MUTATION,
THERE WERE DIFFERENT WEAKNESS
PATTERNS, A DIFFERENT PATTERN OF
AGE OF ONSET AND POSSIBLY RATE
OF DISEASE PROGRESSION TO LOSS
OF AMBULATION.
SO, IT WAS RECOMMENDED THAT AN
IN-DEPTH STUDY OF GENOTYPE AND
PHENOTYPE LINKAGE IS NEEDED AS
THE FIELD MOVES FORWARD TOWARDS
CLINICAL TRIALS.
IN OTHER WORDS, YOU CAN'T PUT
ALL OF THE EFFECTED PATIENTS
INTO ONE GROUP.
PROBABLY THEY WILL NEED TO BE
SORTED ACCORDING TO MUTATION.
NEXT SLIDE.
THERE'S ONE MORE.
SORRY ABOUT THAT.
THE LAST STUDY HAS BEEN
SUPPORTED BY NINVS PUBLISHED IN
THE LANCE I HAD LAST MONTH
ENTITLED ANTISENSE OLE OLE
OLIGONUCLEOTID TARGETING DMPK IN
PATIENTS WITH MIO TONIC
DYSTROPHY TYPE 1.
SO THEY PROVIDE A PROMISING
APPROACH TO TREATMENT OF MD1
BECAUSE THEY REDUCE TOXIC RNA
LEVELS.
IN THIS PARTICULAR STUDY THE
INVESTIGATORS LOOKED AT THE
SAFETY OF BALIFORSEN AND
ANTISENSE NUCLEOTIDE THAT
TARGETS THE DMT PROTEIN KINASE
mRNA.
THE TREATMENT WAS WELL TOLERATE
BY THE STUDY PARTICIPANTS WITH
ONLY MILD ADVERSE EVENTS.
HOWEVER, SKELETAL MUSCLE DRUG
CONCENTRATIONS WERE BELOW THE
LEVELS THAT WERE PREDICT TODAY
ACHIEVE A SUBSTANTIAL TARGET
REDUCTION.
THE RESULTS SUPPORT FURTHER
INVESTIGATION OF ASO AS A
THERAPEUTIC APPROACH BUT
IMPROVED DELIVERY TO MUSCLE IS
NEEDED.
I THINK THIS IS THE LAST ONE.
SO, THOSE ARE MY UPDATES FOR
NOW.
WE WANTED TO GIVE YOU A HEADS-UP
ABOUT A TOPIC THAT WE INTEND TO
DISCUSS AT THE FALL MDCC MEETING
AND THAT WILL INVOLVE NEWBORN
SCREENING FOR DUCHENNE MUSCULAR
DYSTROPHY.
WE HAD A SESSION ON THIS TOPIC
IN DECISION OF 2020, BUT THERE'S
BEEN SOME RESENT ACTIVITY IN
TERMS OF DECISIONS THAT WERE
MADE WHETHER OR NOT TO RECOMMEND
SCREENING ROUTINELY FOR THIS
CONDITION.
O, WE ARE IN THE PRODUCTS OF
IDENTIFYING SPEAKER THAT CAN
SPEAK ON BOTH SIDES OF THE
TOPIC.
WE WANTED TO GIVE YOU A HEADS-UP
WE WEREN'T QUITE READY TO
DISCUSS THIS YET.
WE INTEND TO HAVE A FULL
DISCUSSION IN THE FALL.
SO I THINK THAT'S THE END OF MY
FORMAL PRESENTATION.
AND WE ARE DOING PRETTY WELL ON
TIME.
SO I HAVE ABOUT FIVE MINUTES,
FIVE OR SIX MINUTES FOR
QUESTIONS.
AND I WELCOME THEM.
>>Glen Nuckolls: ERIC WANG WAS
A SENIOR AUTHOR ON THE RECEPTORS
GIDSTUDY SO I WONDER IF HE WILL
PROVIDE COMMENTS ON THAT STUDY?
>>THIS STUDY WAS PERFORMED IN
CORRELATION WITH GARY AND
UNIVERSITY AND I DON'T HAVE TOO
MUCH TO ADD OTHER THAN WE THANK
NINDS FOR SUPPORTING THIS.
IT'S IN THE AREA OF MIO TONIC
THAT HASN'T GOT AS MUCH
ATTENTION AS PERIPHERAL AND SO
THE STUDY SEEKS TO LAY SOME
GROUNDWORK TO IT TO INVESTIGATE
THAT AREA.
THANK YOU, AGAIN, FOR THE
SUPPORT.
>>Diana Bianchi: WHAT ARE YOUR
NEXT STEPS?
>>YEAH, ONE OF THE
PHARMACOLOGICAL APPROACHES IN
THE STUDY WAS TO TEST A MOLECULE
THAT IS FDA APPROVED FOR
BENZODIAZEPINES OVERDOSE AND IT
WAS APPROVED IN THE SAME YEAR
THE GENE FOR MIO TONIC DYSTROPHY
WAS DISCOVERED IN 1992 AND WE
ARE FURTHER PURSUING MECHANISTIC
STUDIES HOW THIS MOLECULE IS
HAVING THE AFFECTS THAT WE
OPENED IN THE MOUSE MODEL.
AND OUR HOPE IS TO GAIN
SUFFICIENT MECHANISTIC
UNDERSTANDING TO SUPPORT FUTURE
CLINICAL STUDIES, FOR EXAMPLE,
INFORMING APPROPRIATE PHARMA CO
KINETIC RELATIONSHIPS AND THE
APPROPRIATE TIMES AND ENDPOINTS
TO LOOK AT IN CLINICAL TRIALS.
SO, THOSE ARE ON GOING NEXT
STEPS FOR THIS PARTICULAR
INVESTIGATION.
>>Diana Bianchi: GREAT.
IT'S REALLY A TREAT TO HAVE YOU
HERE AND TO SHARE THAT WITH US.
>>THANK YOU.
>>Glen Nuckolls: THANK YOU, I
ALSO WANT TO POINT OUT, THE
FIRST AUTHOR WAS RECIPIENT OF A
DIVERSITY SUPPLEMENT TO ERIC AND
GARY'S GRANTS.
SO, DIVERSITY SUPPLEMENT IS A
PROGRAM THAT NIH HAS TO PROVIDE
ADDITIONAL FUNDS TO EXISTING
GRANTS TO SUPPORT STUDENTS,
POSTDOCS, EVEN JUNIOR FACULTY
THAT SPRING DIVERSITY INTO THE
RESEARCH WORKFORCE.
>>Diana Bianchi: GREAT.
ANY OTHER QUESTIONS OR COMMENTS?
>>IS THERE A QUESTION IN THE
CHAT?
>>
>>Glen Nuckolls: YEAH.
HOW WILL BIO RIVET -- BIO
ARCHIVE MODIFY NIH RULES FOR
PUBLICATION AND THAT'S FROM
KEVIN CAMPBELL.
>>Diana Bianchi: THAT'S AN
INTERESTING QUESTION.
WELL, I THINK THE INTENT, I
REALLY DON'T KNOW THE ACTUAL
ANSWER BUT THE INTENT IS MAYBE
TO SCHOLARSHIP OVER BIO ARCHIVE
AND GO DIRECTLY TO MAKING THE
PUBLISHER VERSION AVAILABLE.
BIO ARCHIVE IS NOT THE
PEER-REVIEWED VERSION OF THE
PUBLICATION SO WE CERTAINLY WANT
THE PEER-REVIEWED VERSION TO BE
MADE PUBLIC.
>>Glen Nuckolls: ANY OTHER
QUESTIONS FOR Dr. BIANCHI?
>>Diana Bianchi: I'M GOING TO
YIELD BACK THE TWO MINUTES.
NEXT ON AT AGAIN DA ASK A RECAP
OF THE 2020 MUSCULAR DYSTROPHY
ASSOCIATION CLINICAL AND
SCIENTIFIC CONFERENCE AND THAT
IS GOING TO BE PROVIDED BY
SHARON HESTERLEE.
SO WELCOME, SHARON.
>>Glen Nuckolls: WE HAD A LAST
MINUTE SUBSTITUTION, THE
PRESENTATION IS ACTUALLY GOING
TO BE FROM PAUL MILLMEYER HERE
HERE AT THE TABLE.
>>Diana Bianchi: I'M SORRY,
THAT WAS NOT ON THE RUN OF SHOW
BUT THAT'S OKAY.
>>Glen Nuckolls: WE JUST FOUND
OUT VERY RECENTLY.
>>Diana Bianchi: WELCOME, PAUL.
>>THANK YOU.
APOLOGIES FOR THOSE WHO ARE
EXPECTING Dr. HESTERLEE.
SHE IS NOT DOUBLE BOOKED BUT
TRIPLE BOOKED SO SHE ASKED ME TO
TAKE HER PLACE.
I'M GRATEFUL TO BE TELLING YOU
ABOUT OUR SCIENTIFIC AND
CLINICAL CONFERENCE THAT THE MDA
CONVENED JUST A FEW WEEKS BACK.
SO, I DO KNOW WE HAVE A FEW
SLIDES.
AM I RUNNING THOSE MYSELF?
I DON'T SEE THEM A SPEAR ON MY
SCREEN.
ALL RIGHT.
>>YOU ARE SEEING A SLIDES BUT
THEY'RE NOT IN SCREEN FORMAT.
THE FULL SCREEN.
OKAY.
LET ME DRY THIS AGAIN.
THERE WE GO.
ALL RIGHT.
SO YES WE WANT TO SPEND A FEW
MINUTES TALKING ABOUT THE
TAKEAWAYS FROM THE CONFERENCE
THAT WE CONVENED JUST A FEW
WEEKS AGO BECAUSE WE REALLY ARE
HAPPY WITH HOW IT WENT AND I
THINK THERE'S ACTUALLY A NUMBER
OF THINGS THAT WE'RE DISCUSSED
TURNS THAT CONFERENCE THAT COULD
BE RELEVANT TO THE GENERAL
MISSION OF THIS COORDINATING
COMMITTEE BUT EVEN MORE
SPECIFICALLY THE ACTION PLAN
WE'RE GOING TO DISCUSS LATER
THIS AGENDA.
AS I TRY TO MOVE FORWARD.
LET'S SEE HERE.
USE THE COMPUTER.
COMPUTER.
WE HAD 1500 PEOPLE IN ATTENDANCE
IN-PERSON AT OUR CONFERENCE
WHICH IS ACTUALLY THE BIGGEST
CONFERENCE WE'VE HELD WHICH WE
ARE VERY EXCITED ABOUT.
OF COURSE, DUE TO THE EVOLUTION
THAT THE PANDEMIC HAS BROUGHT
ABOUT, WE ALSO HAVE A VIRTUAL
OPTIONS FOR ATTENDEES AND HAD
550 AND COUNTING BECAUSE OF
COURSE THAT'S THE CONFERENCE
SESSIONS ARE AVAILABLE ON DEMAND
AND ANYBODY WHO WAS UNABLE TO
JOIN US.
WE HAD A NUMBER OF SESSIONS ON A
VARIETY OF TOPICS WHICH WE'LL
GET TO HERE MOMENT TAR TEE AND
YOU CAN SEE THE ADDITIONAL
STATISTICS OF WHO IS THERE WITH
US AND NUMBER OF SPEAKERS,
POSTERS, EXHIBITERS, GRATEFUL TO
HAVE 14 PATIENT ADVOCACY EXHIBIT
NORTH OUR PAVILION AND A NUMBER
OF INDUSTRY FORUMS AND MANY MORE
VIRTUAL POSTERS FROM THERE AND
SO JUST TO TELL YOU ABOUT WHAT
WE COVERED WITHIN THE CONFERENCE
SO THE CONFERENCE ITSELF WAS
MARCH 20th THROUGH 22nd.
AS MOST OF THESE CONFERENCES GO,
WE HAD A VARIETY OF PRE MEETINGS
BECAUSE AS YOU GATHER EVERYBODY
TOGETHER FOR A CONFERENCE, YOU
WANT TO TAKE THE OPPORTUNITY TO
TALK ABOUT SOME OTHER STUFF AT
THE SAME TIME.
SO THE DAY BEFORE OUR
MARCH 19th WE CONVENED OUR
CARE CENTER DIRECTORS AND WE
CONVENED THE PATIENT ADVOCACY
ORGANIZATIONS IN ATTENDANCE AND
HAD A TRAINING NETWORKING
SESSION AND THEN, THE CONFERENCE
WITH Dr. PETER MARKS FOR
EVALUATION AND RESEARCH AT FDA
KICKING THINGS OFF WITH
PRESENTATION WHICH I'LL GET INTO
A LITTLE BIT MORE DETAIL
MOMENTARILY AND A RECOGNITION OF
THE GREAT WORK THAT Dr.
CUDKOWICZ HAS DONE AND I'LL SEE
A FEW EXTRA WORDS MOM TARLY.
THE REMAINDER WAS FOCUSED WAS
TRACKS WITHIN ALS, ULTRA--RARE
MYOPATHY AND BIG DATA AND
PRACTICAL CONSIDERATIONS AND
GENE THERAPY AND SO FOURTH.
SO, WE STARTED OUR EFFORTS FOR
THOSE FOUR DAYS WITH OUR
DIRECTOR MEETING AND FOR THOSE
OF YOU THAT DON'T KNOW ABOUT OUR
CARE CENTER NETWORK, WE HAVE
OVER 150 CARE CENTERS ACROSS THE
UNITED STATES AND YOU SEE THOSE
HIGHLIGHTED IN THE MAP ON THE
LEFT SIDE OF THE SCREEN.
AND THESE OF COURSE ARE THE
NEURO MUSCULAR DISEASE CLINICS
ON THE FRONTLINES OF TREATING
THOSE WITH MUIR OWE MUSCULAR
DISEASE AND WE PARTNER WITH
THESE CLINICS TO NOT ONLY OF
COURSE ASSIST THEM IN THE PRE
VISION OF CARE AND ALSO TO
COORDINATE RESOURCES GOING TO
COMMUNITY MEMBERS WHO ATTEND
THESE CLINICS FOR THEIR CARE AND
IT'S AT OUR ANNUAL CARE CENTER
DIRECTOR MEETING WE TALK ABOUT
SOME OF THE BIGGEST ISSUES AND
FACING CLINICAL CARE NEURO MUSS
YOU LAR DISEASE AND WE TOOK A
FOCUS, ESPECIALLY THIS YEAR, ON
GENE THERAPY AND IT'S GOING TO
BE A TREND YOU WILL HEAR ABOUT
FROM MY HUGH MINUTES HERE.
THE INTENSE INTEREST?
GENE THERAPY ACROSS THE ENTIRE
FIELD AND THERE ARE GENE THERAPY
THAT ARE PROMISING AND EXCITING
AND ALSO RATHER CHALLENGING.
SO IN THE AFTERNOON, WE HAD A
SESSION CHAIRED BY Dr. BARRIE
BURN AND Dr. JOHN DAY TWO OF
THE MEDICAL ADVISERS ON
ESSENTIALLY CLINICAL READINESS
FOR THE APPROVAL OF MUSCULAR
DYSTROPHY GENE THERAPY AND AT
THE END OF MAY SO JUST AROUND
THE CORNER HERE.
AND I BELIEVE IT WAS Dr. BURN
WHO ASKED THE 100 OR SO CARE
CENTERS DIRECTORS IN THE
AUDIENCE TO RAISE THEIR HAND IF
THEY THOUGHT WE WERE
SYSTEMICALLY PREPARED FOR THE
APPROVAL OF THIS THERAPY AND THE
PROVISION FROM THERE AND NOT ONE
HAND WAS RAISED BECAUSE WE SEE
THE POSSIBILITY OF HUNDREDS IF
NOT THOUSANDS DEPENDING ON THE
LABEL WITH BOYS DUCHENNE OR
YOUNG MEN WITH DUCHENNE WHO WILL
SEEK THIS GENE THERAPY UPON
APPROVAL AND HOW STRAINING THAT
MAY BE TO THIS SYSTEM.
THERE'S CONCERN THERE ARE
CLINICS VERSED AND PREPARED FOR
THE PROVISION OF GENE THERAPY,
IN PART DUE TO THEIR PROVISION
OF FOR SMA AND ALSO JUST IN
GENERAL DUE TO THEIR RESEARCH
AND CLINICAL EXPERTISE IN AGAIN
THERAPY AND THEY'RE NOT GOING TO
BE ABLE TO ACCOMMODATE HUNDREDS
OR OVER A THOUSAND BOYS AND
YOUNG MEN AVAILABLE LATER THIS
SPRING SO IT'S SOMETHING THAT WE
ARE CERTAINLY VERY FOCUSED ON
OVER THE NEXT COUPLE OF MONTHS
AND CERTAINLY OTHERS IN THE
DUCHENE FIELD ARE AS WELL.
SO MOVING ON FROM THERE, WE ALSO
CONVENE THE PATIENT ADVOCACY
ORGANIZATIONS IN ATTENDANCE AND
WE'RE GRATEFUL TO HAVE 24 OF OUR
PARTNERING NON-PROFIT
ORGANIZATIONS WITH US AND THIS
IS ACTUALLY BUILDING UPON AN
EFFORT THAT WE'VE HAD ON GOING
FOR SEVERAL YEARS NOW AND THIS
BEING WITHIN OUR NEURO MUSCULAR
ADVOCACY COLLABORATIVE.
WITHIN THIS COLLABORATIVE, WE EX
TOGETHER TO DISCUSSION WHAT ARE
THE PRESSING POLICY ISSUES AT
THE TIME AT THE MOMENT FOR EACH
OF THE INDIVIDUAL PATIENT
POPULATIONS PERHAPS THAT WE
SERVE AND WHAT WE FOUND THROUGH
OUR WORK OVER THE COURSE OF THE
LAST YEAR OR SO, IS THAT
COLLABORATION REALLY ON THESE
FOUR TOPICS YOU SEE IN FRONT OF
YOU, IS OF GREAT INTEREST FOR
THE ORGANIZATIONS THAT WE WORK
WITH.
FIRST BEING DIAGN DIAGNOSTIC
SEQUENCING AND MORE SO WHAT
HAPPENS FROM THERE.
ACTUALLY HAVING THIS SPECIALISTS
HAVING THE CLINICIANS AND HAVING
THE SYSTEMS TO SET UP
INDIVIDUALS DIAGNOSED WITH THE
NEURO MUSCULAR DISEASE WITH
OBTAINING THE APPROPRIATE CARE
FROM THERE.
WE OF COURSE SIMILAR TO OUR
FOCUS ELSEWHERE WITHIN THE
CONFERENCE, ALSO TALKED ABOUT
GENE THERAPY AS THIS IS ON THE
MIND OF MOST INDIVIDUALS IN THE
PATIENT ADVOCACY COMMUNITY
PERHAPS THEY ALREADY HAVE EYE
GENE THERAPY APPROVED SUCH AS
THOSE WITHIN DUCHENNE BUT REALLY
THE MAJORITY OF OTHER
ORGANIZATIONS IN THE SPACE ARE
HOPING FOR A GENE THERAPY
APPROVAL AND ONLY THE NEXT
COUPLE OF YEARS WITH LGMD BEING
IN THE NEXT HANDFUL YEARS AS
WELL AS OTHERS.
WE TALKED ABOUT THE FINANCIAL
BURDENS OF LIVING WITH NEURO
MUSCULAR DISEASE AND TRYING TO
LESSEN THOSE BURDENS AND HOW WE
CAN REALLY COLLECTIVELY DEVELOP
ADVOCACY AND INITIATIVES TO
TACKLE THESE TOGETHER BECAUSE I
THINK IT'S COMMONSENSE THAT WHEN
ONE ORGANIZATIONS IS WORKING ON
THIS WE CAN BE EFFECTIVE AND
WHEN 24, AND WE REALLY CAN BE
EVEN MORE EFFECTIVE THAN JUST
INDIVIDUALLY.
SO ALSO ON SUNDAY, WE HAD A
TRAINING NETWORKING SESSION AND
WE BROUGHT TOGETHER THE NEXT
GENERATION OF YOUNG
INVESTIGATORS AND I'LL THANK
Dr. MICHAELS NOR BEING THERE
HIMSELF FOR THIS SESSION AS WELL
AS Dr. GUBITZ WHO WORKED
TOGETHER ALONG WITH OTHERS IN
THE ROOM ON JUST TRYING TO LOOK
AT WHAT THE NEXT GENERATION OF
YOUNG INVESTIGATORS TRYING TO
GET THEM TO THE NEXT STEPS
ESSENTIALLY IN THIS CAREER AND
HOW MDA CAN SERVE THEM AND IN
GENERAL THE COMMUNITY CAN MOVE
FORWARD.
SO MOVING ON TO THE CONFERENCE
ITSELF, CONTINUING ON FOCUSING
ON GENE THERAPY IT'S SAID WE HAD
PETER MARKS OFFERING OUR KEYNOTE
AND HE WAS REALIZING THE PROMISE
OF GONE THERAPY.
IT WAS REALLY GREAT TO HEAR
THINGS Dr. MARKS HAD TO SAY
ABOUT FDA'S APPROACH TO GENE
THERAPY.
FOR ONE, OF COURSE, THERE'S A
GREATER FOCUS WITHIN THE CENTER
FOR BUY LOGICS ON GENE THERAPY
GOING FORWARD.
THEY HAVE A SUPER OFFICE.
THE OFFICE OF THERAPEUTIC
PRODUCTS AND THEY'RE HIRING 150
PEOPLE IN THIS OFFICE AS WELL AS
A NEW DIRECTOR OF THIS OFFICE
AND THEY'RE AS Dr. MARKS
DISCUSSED, POTENTIALLY LAUNCHING
AN OPERATION WARP SPEED FOR RARE
DISEASE WITHIN GENE THERAPIES
FOR RARE DISEASES AND THIS IS
TAKING THE LESSON BETWEEN THE
BIOTECHNOLOGY INDUSTRY AND FDA
FROM COVID AND DEVELOPMENT OF
VACCINES AND TREATMENTS FOR
COVID AND SEEING WHAT COULD BE
APPLIED TO GENE THERAPY FOR RARE
DISEASES, SOMETHING WE THINK IS
WARRANTED AND WE'RE EXCITED
COULD HAVE A NUMBER OF POSITIVE
IMPLICATIONS FOR DEVELOPMENT IN
NEURO MUSCULAR DISEASES.
Dr. MARKS TALKED ABOUT THE
ACCELERATED APPROVAL PATHWAY,
FLEXIBILITY, AND PERTAINS TO
GENE THERAPY DEVELOPMENTS AND
REEL TRYING TO ACCELERATE EVEN
FURTHER OF NEW GENE THERAPIES
BEING DEVELOPED AND BEING
CONSIDERED AND HOPEFULLY
APPROVED BY THE FDA AND BEING
ACCESSIBLE FOR THE COMMUNITY
FROM THERE.
WE CELEBRATED Dr. THE
PRESENTATION TODAY OF COURSE
BECAUSE ALS IS OUTSIDE THE SCOPE
OF OUR CONVERSATION TODAY.
ONE THING THOUGH THAT IS GOOD TO
MENTION, ONE OF THE MOST
IMPACTFUL ITEMS OF PROGRESS
PERHAPS IS Dr. CUKKOWICZ IS
THE PLATFORM TRIALS OF COURSE
OFFERING THE OPPORTUNITY TO
MINIMIZE EXPOSURE TO PLACEBOS
FOR THOSE WITHIN OR COMMUNITY
AND FIND SIGNALS TEST SAFETY AND
SIGNALS OF EFFICACY EVEN QUICKER
THAN TRADITIONALLY CONSTRUCTED
CLINICAL TRIALS.
THERE'S A LOT TO BE LEARNED FROM
THERE AND APPLIED IN OTHER
MUSCULAR DYSTROPHY.
CONVERSATIONS WITH DUCHENNE HAVE
HAD ON PLATFORMS TRIALS WE SEE
IMPLICATIONS POTENTIALLY EVEN
BEYOND DUCHENNE IN THE USE OF
PLATFORMS TRIALS SO WE WERE
GRATEFUL TO BE ABLE TO CELEBRATE
HER IN MUCH OF THE WORK SHE
CONTINUES TO DO.
WITHIN THE CONFERENCE SESSIONS
ITSELF, WE HELD A PANEL ON
RESEARCH INVESTING AND IT WAS A
SUMMIT THAT WAS INCLUDED WITHIN
OUR CONFERENCE.
AND GRATEFUL TO BE TALKING ABOUT
THE INVESTING LANDSCAPE WITHIN
NEURO MUSCULAR DISEASES
PRESENTATIONS FROM 12 EARLY
STAGE BIO TECHS ON SOME OF THE
PROJECTS THAT THEY'RE ON GOING
AND OPPORTUNITIES FOR INVESTORS
IN THE ROOM TO CONSIDER
INVESTING IN THOSE PROJECTS.
IT'S SOMETHING WE HAVE CONVENED
IN THE PAST AND WE'RE GRATEFUL
TO CONVENE AGAIN.
AGAIN, THE GENE THERAPY WAS
QUITE THE FOCUS AND IT WAS
EVIDENT IT WAS THE FOCUS OF
THOSE WHO ARE ATTENDING BECAUSE,
WE HAD FOUR TRACKS ON GOING AT
ANY ONE TIME AND THE GENE
THERAPY TRACK WAS ACTUALLY, WE
HAD TO CON INFRASTRUCTURE A VERY
RAPIDLY OVERFLOW ROOM BECAUSE WE
RAN OUT OF SPACE.
WE NEEDED AN OVERFLOW ROOM FOR
THE OVERFLOW ROOM.
WHICH SHOWS JUST HOW SUBSTANTIAL
THE INTEREST IN GENE THERAPY IS
WITHIN BOTH OF CLINICAL AND THE
RESEARCH COMMUNITY, WHO WAS
ATTENDING OUR SUMMIT.
THERE WAS A NUMBER EVER THINGS
THAT WERE DISCUSSED THROUGHOUT
THIS SESSION INCLUDING POTENTIAL
SAFETY ISSUES AND ADMINISTRATION
AND PRESSING QUESTIONS FOR THE
GENE THERAPY AND INCLUDING ON
DOSING AND ANTIBODY POSITIVE
PATIENTS AND REDOSING STRATEGIES
AND THOSE KINDS OF TOPICS AND
ALSO WITHIN IMPLICATIONS OF
NEWBORN SCREENING AND CLINICAL
TRIAL DESIGN AND THE GENE
THERAPY MIGHT BE HAVING AND
INCLUDING LESSON LEARNED FROM
NEWBORN SCREENING IN SMA AND HOW
IT IMPACTS DUCHENE AND SCREENS
THAT COULD COME DOWN THE ROAD IF
OR WHEN GENE THERAPIES ARE
APPROVED FOR CONDITIONS.
AND THEN FINALLY ON TRIAL
DESIGN, HOW THE DEVELOPED
PROTOCOLS, HOW TO DEVELOP TRIALS
WITH INCREASING NUMBER OF
PATIENTS ALREADY BEING TREATED
BY APPROVED THERAPIES AND TO YOU
TO APPROACH WHETHER A PLACEBO
ARM SHOULD BE WIRED.
DISCUSSING THE PRACTICAL
MANAGEMENT OF GENE THERAPY AND
PROCUREMENT ADMINISTRATION AND
IT'S COMPLEX AND THINGS OF THOSE
WHO HAVE ACTUALLY NOT
ADMINISTERED GENE THERAPIES MAY
NOT BE AWARE OF AND SO
DISCUSSING AND TRYING TO EDUCATE
OTHER CLINICS WHO MAY BE GOING
THROUGH THIS PERHAPS THIS
SUMMER, FOR EXAMPLE, IF THIS
APPROVED AND OTHER CLINICAL
CHALLENGES WITHIN THE GENE
THERAPY AREA INCLUDING OTHER
REAL WORLD CHALLENGES ON SAFETY
AND PRACTICAL AND ETHICAL
CONSIDERATIONS AND HOW
CLINICIANS ARE RESPONDING
REAL-TIME FRANKLY TO THOSE
PROBLEMS.
ONE THING WE ANNOUNCED WAS OUR
KICK-START PROGRAM.
THIS IS AN EXCITING INITIATIVE
IN WHICH WE'RE PARTNERING WITH
THOSE AT U.S. DAVIS TO BRING A
POTENTIAL GENE THERAPY THROUGH
THE PRE IND STAGE TO THE CLINIC
AND WE SEE MANY ISSUES STILL
WITHIN THIS PROCESS FOR SOME
GENE THERAPY AND ULTRARARE NEURO
MUSCULAR DISEASES SO WE'LL
PILOTING A PROGRAM NOT LIKE
THOSE ON GOING WITHIN NIH BUT
STILL BEING A NEEDED FOR GREATER
STUDY AND GREATER RESEARCH AND
GREATER TESTING AS SUCH EFFORTS
AND WE'RE PARTNER WHAT IS Dr.
HERANO AND OTHERS AT U.S. DAVIS
ON KICK-START.
SO WHAT WE'RE FOCUSING ON.
IT'S SOMETHING THAT MDA HAS BEEN
WORKING CLOSELY WITH OUR
PARTNERS AT PPMD AND I'M SURE IF
FOLKS FROM PPMD ARE ON TODAY BUT
NIKKI ARM STRONG IS LEADING THE
CHARGE AND WE'VE BEEN CO
NOMINATE THE NOMINATION AND
WE'LL BE HAVING A LOT TO SAY
CERTAINLY COME FALL TIME.
Dr. BIANCHI, THANK YOU FOR
PUTTING THAT ON THE AGENDA AND
WE'RE EXCITED TO TALK ABOUT
THAT.
I'LL TURN IT BACK.
>>Diana Bianchi: GREAT.
THANK YOU SO MUCH, PAUL, FOR
PINCH HITTING AND
CONGRATULATIONS TO YOU, SHARON
AND YOUR COLLEAGUES FOR HAVING
SUCH AN INFORMATIVE AND SUPER
WELL ATTENDED MEETING.
THAT'S AMAZING THAT WE'RE NOW
BACK IN-PERSON.
ARE THERE ANY QUESTIONS FOR
PAUL?
I DON'T SEE ANY IN THE CHATBOX.
GLEN OR PAUL CAN YOU VAN THE
ROOM?
>>Glen Nuckolls: NO QUESTIONS
IN THE ROOM.
I WAS ASKING TO ASK IF YOU
PICKED THE PLACE FOR NEXT YEAR?
>>ORLANDO, FLORIDA, MARCH 3-6.
HOPE TO SEE EVERYBODY THERE.
>>Diana Bianchi: EXCELLENT.
>>Glen Nuckolls: THANK YOU,
PAUL.
>>Diana Bianchi: AGAIN,
QUESTIONS?
OKAY.
WELL, WITHOUT FURTHER ADIEU,
WE'RE GOING TO GO TO OUR NEXT
TOPIC WHICH IS AN IMPORTANT ONE
AND WE'RE GOING TO DISCUSS THE
MDCC ACTION PLAN FOR THE
MUSCULAR DYSTROPHIES.
THIS IS A DOCUMENT THAT IS
PRODUCED BY OR COMMITTEE WITH
CONTRIBUTIONS WITH A WIDE RANGE
OF STAKEHOLDERS INCLUDING
PATIENTS AND ADVOCATES,
RESEARCHERS AND FEDERAL
AGENCIES.
WHEN IT WAS LAST RENEWED A
DECADE AGO IN 2015, IT
REPRESENTED THE CURRENT VIEWS AT
THE TIME FOR ADVANCING RESEARCH
TOWARDS A BETTER UNDERSTANDING
OF MUSCULAR DYSTROPHY.
AK SET RAILING PRODUCTS AND
STRATEGIES TO IMPROVE QUALITY OF
LIFE AND ACCESS TO CARR AND
SERVICES.
NOW, I THINK EVERYBODY
RECOGNIZES A LOT HAS HAPPENED IN
THE LAST DECADE.
SO GLEN WOULD LIKE TO PRESENT A
PLAN FOR RENEWING THE ACTION
PLAN FOR 2025 AND BEYOND.
SO I'M GOING TO HAND IT OVER TO
YOU.
GLEN.
>>Glen Nuckolls: THANK YOU,
Dr. BIANCHI.
YES, SO I'LL GO THROUGH A
PROPOSAL THAT WE HAVE FOR
RENEWAL OF THE ACTION PLAN FOR
2025 AND BEYOND.
AND THEN WE HAVE TIME SCHEDULED
AFTER THIS WHERE WE CAN DISCUSS
THIS PLAN AND GET IT A LITTLE
MORE DETAILED.
MY CLICKER IS NOT WORKING.
DO YOU WANT TO JUST ADVANCE THE
SLIDE FOR ME.
DO YOU DO YOU WANT TO ADVANCE
THE SLIDE.
THE ACTION PLAN IS ONE OF THE
MAIN PRODUCTS OF THIS COMMITTEE
AND IT WAS -- THE ACTION PLAN
WAS FIRST DEVELOPED IN 2005 IN
RESPONSE TO GUIDANCE FROM THE
LEGISLATION, THE MD CARE ACT AND
THEN WE RENEWED THE ACTION PLAN
IN 2025 AND THAT IS THE LAST
TIME IT WAS RENEWED.
SO, IT DOES REPRESENT WHAT WAS
AT THE TIME CURRENT VIEWS OF
RESEARCHERS AND OTHER
STAKEHOLDERS ON NOT ONLY KIND OF
RESEARCH ASPECT OZ RESEARCH AND
TREATMENT, RESEARCH AND
UNDERSTANDING DISEASES AND IT
HAS A NUMBER OF OBJECTIVES THAT
ARE ORIENTED TOWARDS ENHANCING
QUALITIES OF LIFE AND ACCESS TO
CARE AND SERVICES SO, YOU KNOW,
WE AS FUNDING ORGANIZATIONS AND
POLICYMAKERS, WE USE THE ACTION
PLAN TO HELP GUIDE SOME OF OUR
DECISION-MAKING IT GUIDES
RESEARCHERS IN PLANNING STUDIES
AND PARTICULARLY RESEARCHERS WHO
ARE NEW TO THE MUSCULAR
DYSTROPHY FIELD AND IT'S NOT
UNUSUAL THAT WE GET GRANT
APPLICATIONS AND IN THE
SIGNIFICANT SECTION THEY'LL
REFERENCE THE MDCC ACTION PLAN.
I THINK THE PLAN ALSO HELPS HAD
EDUCATE PATIENTS AND WHAT IS AT
THE TIME THE CURRENT LANDSCAPE
AND FUTURE DIRECTIONS OF
MUSCULAR DYSTROPHIES RESEARCH
AND THESE OTHER ACTIVITIES.
THE MD CARE ACT AS THAT THEY
WILL REVIEW AND REVISE THE PLAN.
GIVEN THE PRECEDENCE WITH THE
LAST RENEWAL WE'RE EXPECTING
THAT 2025 WOULD BE THE NEXT TIME
FOR RENEWAL TO BE DONE.
SO, THE CURRENT PLAN, 20915
ACTION PLAN AND HERE IS A LINK
TO THE FULL ACTION PLAN ON OUR
WEBSITE.
IT HAS SIX DIFFERENT SECTIONS
AND MECHANISMS OF MUSCULAR
DYSTROPHY, DIAGNOSTIC AND
PRECLINICAL THERAPY THERAPY
DEVELOPMENT AND LIVING WITH
MUSCULAR DYSTROPHY WHICH
INCLUDES NOT ONLY THINGS LIKE
QUALITY OF LIFE AND ACCESS TO
CARE BUT ALSO STRATEGIES FOR
FACILITATING CLINICAL TRIALS AND
A SECTION ON INFRASTRUCTURE AND
THAT'S BOTH RESEARCH AND
INFRASTRUCTURE AND
INFRASTRUCTURE FOR CARE AND SO
WITHIN THOSE SIX HEADINGS, THERE
ARE SUBHEADINGS THAT END UP WITH
A TOTAL OF 81 OBJECTIVES AND
GOALS AND IT WAS WRITTEN WITH
THE A TIME WHERE THERE WAS NO
APPROVED TREATMENTS FOR ANY FORM
OF MUSCULAR DYSTROPHY AND WE'VE
SEEN A LOT OF PROGRESS IN THE
FIELD SINCE THEN AND A LOT OF
INCREASE IN THE INVOLVEMENT OF
INDUSTRY GROUPS AND SOL THE 2015
PLAN WAS DEVELOPED WITH REALLY
FAIRLY LIMITED INVOLVEMENT OF
INDUSTRY RESEARCHERS.
ANOTHER THING WE'VE SEEN IN THE
FIELD IS THAT ADVOCACY GROUPS
AND OTHER ORGANIZATIONS HAVE
DEVELOPED THEIR OWN MUSCULAR
DYSTROPHY RELEVANCE STRATEGIC
PLANS SO THE CURRENT PLAN REALLY
DOESN'T REFERENCE THOSE OR TAKE
ADVANTAGE OF THE EFFORTS AND
BUILD ON THE STRATEGIC PLANNING
DONE BY OTHER ORGANIZATIONS.
SO THIS IS A LIST OF THE PEOPLE
WHO CONTRIBUTED TO THE 2015
ACTION PLAN SO WE HAD WORKING
GROUPS FOR EACH OF THE DIFFERENT
SIX SUBHEADINGS AND A NUMBER OF
THE NDCC MEMBERS AND CERTAINLY A
LOT OF EXPERTISE REPRESENTED
BOTH ACADEMIC AND INVESTIGATORS
AND PATIENT PATIENT ADVOCATES
AND FEDERAL AGENCY
REPRESENTATIVES AND SO FOURTH.
I WANT TODAY GIVE YOU AN IDEA OF
GUIDING PRINCIPLES FOR THE
ACTION PLAN RENEWAL AND WE WOULD
LIKE FOR IT TO CONTINUE TO
UPDATE AND REPRESENT THE NOW
CURRENT VIEWS AN STRATEGIZE FOR
RESEARCH AND ACCELERATING
DIAGNOSIS AND DEVELOPING
EFFECTIVE TREATMENTS AND WHEN
ENHANCING QUALITY OF LIFE FOR
INDIVIDUALS LIVING WITH MUD.
WE WANT TO INCORPORATE THE BROAD
PERSPECTIVES OF STAKEHOLDERS AND
PATIENTS FAMILY MEMBERS AND THEY
WILL SHAPE THE ACTION PLAN AND
WE'D LIKE TO HAVE REPRESENTATION
ON EACH OF THE WORKING GROUPS
FROM A PATIENT OR PATIENT
ADVOCATE AND WE WOULD LIKE TO
INCLUDE IN THE ACTION PLAN,
PATIENT STORIES OR STATEMENTS
THAT MIGHT BE RELEVANT TO THE
PLAN SO WE'D LIKE TO INCLUDE NOT
ONLY ACADEMIC BUT INDUSTRY
INVESTIGATORS AND IN
CONTRIBUTING THEIR VIEWS TO THE
RENEWED ACTION PLAN AND OF
COURSE, FEDERAL AGENCIES THAT
REPRESENT FUNDING ORGANIZATIONS
AS WELL AS AGENCIES THAT PROVIDE
SERVICES AND WE WOULD LIKE IT TO
BE USER FRIENDLY AND STREAMLINED
FROM THE 2015 ACTION PLAN AND
WE'LL ENCOURAGE EACH OF THE
WORKING GROUPS DEVELOP SMALLER
MORE GENERALIZED GOALS SO WE'RE
THINKING MAYBE THREE TO FOUR PER
WORKING GROUP AND SO THE TOTAL
NUMBER OF OBJECTIVES WOULD GO
FROM 81 DOWN TO 15 OR 20 BUT
AGAIN THEY WOULD BE BROADER
GOALS AND THEN WE'LL LINK OUT TO
INDIVIDUAL STRATEGIC PLANS
DEVELOPED DID I DISEASE SPECIFIC
ADVOCACY GROUPS TO PROVIDE MORE
OF THAT RESOLUTIONS INTO
INDIVIDUAL DISTRIBUTIONS AWAY
WANT TO ADDRESS DIVERSITY,
EQUITY INCLUSION AND
ACCESSIBILITY AND THE ACTION
PLAN AND THAT'S APPLYING TO
PATIENTS TO ACCESS TO CARE AND
ALSO DIVERSITY OF THE RESEARCH
STUDIES AND THE RESEARCH
WORKFORCE AND WOAD LIKE TO
PROPOSE THE SECTIONS OF THE 25
ACTION PLANS WOULD BE LISTED
HERE AND WE HAVE MECHANISMS OF
MUSCULAR DYSTROPHY INCLUDING
THOSE THAT ARE UNIQUE TO
SPECIFIC FORMS OF MUSCULAR
DYSTROPHY AND THOSE THAT ARE
COMMON AND IF WE TRY TO PICK
THREE OR FOUR AGREED GOALS WE
WON'T BE ABLE TO GO INTO THE
KIND OF RESOLUTION THAT THE 2015
PLAN DOES FOR INDIVIDUAL
DYSTROPHY AND IT WILL LINK TO
OTHER STRATEGIC PLANS THAT HAVE
THAT RESOLUTION.
WE'LL HAVE PRECLINICAL THERAPY
DEVELOPMENTS AND A SECTION ON
CLINICAL STUDIES THAT WOULD
INCLUDE NATURAL HISTORY STUDIES
AND TRIAL READINESS AND
BIOMARKERS AND CLINICAL OUTCOME
ASSESSMENT AND NEWBORN SCREENING
OR DIAGNOSTICS STRATEGIES AND
CLINICAL TRIALS AND WE'LL HAVE
ENHANCING QUALITY OF LIFE AND
ACCESS TO CARE WHICH WAS KIND OF
THE LIVING WITH SECTION FROM THE
2015 PLAN AND A SECTION THAT
ADDRESSES AND PARTNERSHIP AMONG
ADVOCACY GROUPS OR INDUSTRY
GROUPS, WHERE THEY ARE AND KIND
OF TEAMS SCIENCE AND DATA
SHARING AND CAREER DEVELOPMENT
AND RESEARCH INFRASTRUCTURE AND
INTO EACH OF THE RELEVANT
SECTIONS OF THE ACTION PLAN AND
AS MENTIONED WE WANT TO BUILD
UPON INNER GUYS WITH AND REALLY
INTEGRATE THIS STRATEGIC PLANS
THAT ARE DEVELOPED BY MDCC
MEMBER ORGANIZATION AND OTHER
ADVOCACY GROUPS.
OF COURSE, THE MUSCULAR
DYSTROPHY COORDINATING COMMITTEE
AS A WHOLE WOULD BE CONSIDERING
THE RENEWED PLAN FOR APPROVAL
AND WE'RE FIGURING THAT CAN
HAPPEN IN THE SPRING MEETING OF
2015 AND SO LEADERSHIP OF THE
OVER ALL PROCESS WOULD INCLUDE
Dr. BIANCHI AND Dr. CRISWELL
FROM NIAMS SHE'S THE CHAIR FOR
2024 AND 2025 AND WE'D LIKE TO
HAVE A MDCC ACTION PLAN STEERING
GROUP THAT WOULD BE COMPOSED OF
VOLUNTEERS AMONG THE MEMBERS OF
MDCC AND THE HOLES OF THIS
STEERING GROUP WOULD BE TO
IDENTIFY OR NOMINATE THE MEMBERS
OF EACH OF THE WORKING GROUPS
AND TO BE MORE INVOLVED WITH ALL
THE RENEWED ACTION PLAN
INCLUDES.
AND SO I WILL SEND OUT AFTER
THIS MEETING I'LL SEND OUT AN
E-MAIL TO MDCC MEMBERS INVITING
YOU IF YOU ARE INTERESTED, TO BE
PART OF THIS STEERING GROUP.
AND THEN WE HAVE THE TIME
WORKING GROUPS AND EACH WOULD BE
PROBABLY SIX TO EIGHT
PARTICIPANTS INCLUDING
RESEARCHERS AND PATIENT
ADVOCATES AND OTHER STAKEHOLDERS
AND WE NEED TO CONSIDER GENDER,
RACE, ETHNICITY AND GEOGRAPHIC
REPRESENTATION ON THESE WORKING
GROUPS BUT WE CONSIDER WHAT
TYPES OF MUSCULAR DYSTROPHY ARE
INCLUDED IN EACH GROW AND WE
HAVE NIH STAFF AS DELAY ONS FOR.
THE OVER ALL OUTLINE IS PROSED
AND INTRODUCTION TA TALKS ABOUT
THE DIFFERENT FORMS OF DYSTROPHY
AND LEGISLATION IN NDCC AND THE
PROCESS IN THE RENEWAL AND WE
WANTED TO HAVE A SECTION WHERE
IT DISCUSSES PROGRESS ON THE
2015 ACTION PLAN SO WHAT HAPPENS
SINCE THEN AND WE THOUGHT ABOUT
DIFFERENT WAYS TO DO THIS AND WE
CAN DO AN EXAUSTIVE PORTFOLIO
ANALYSIS AND DETERMINE YOU KNOW
WHAT GRANTS WERE AWARDED RELATED
TO THE DIFFERENT OBJECTS AND
WHAT CAME OUT AND I THINK WE'RE
TRYING TO MAKE THIS A USER
FRIENDLY DOCUMENT.
WE THOUGHT IT MIGHT BE HELPFUL
AND MORE USER FRIENDLY TO JUST
PROVIDE FOR EACH OF THE 81
OBJECTIVES, JUST A COUPLE OF SEN
ESSENTIALS THAT SUMMARIZES THE
PROGRESS THAT HAS BEEN MADE ON
THAT OBJECTIVE AND I THINK IT
WOULD TAKE A LOT OF NIH STAFF
AND ALSO MEMBERS OF THE WORKING
GROUP TO HELP FORMULATE WHAT
THOSE SUMMARIES ARE SO THAT WE
KNOW FOR EACH OBJECTIVE IS
THINGS HAVE PROGRESSED AND WE'D
HAVE THE FIVE SECTIONS THAT ARE
DESCRIBED EARLIER WITH THREE TO
FOUR PRIORITIES IDENTIFIED IN
EACH OF THOSE SECTIONS AND THEN
HAVE SECTION FOUR WOULD BE THE
STRATEGIC PLANS OF OTHER
ORGANIZATIONS RELATIVE TO THE
MESS KULAR DES TROPHY AND THIS
AFTERNOON WE'RE HEAL FROM THREE
DIFFERENT GROUPS FROM MDCC ABOUT
THEIR PLAN THAT GETS INTO MORE
OF A FINE DETAILS FOR VIN TYPES
OF MESS KULAR DYSTROPHY AND WE
HAVE ANNA PEN DICTION WITH
SUMMARY OF PUBLIC COMMENTS AND
LIZARRAGA LISTING OF CONTRIBUTE
TOURS TO THE PLAN.
SO, OVER ALL KIND OF PROPOSED
TIMELINE FOR THIS RENEWAL, WOULD
CONTINUE FROM NOW MUCH AND
THROUGH 2025 AND WE ARE
PRESENTING PLANS INFORM THE NDCC
AT OUR SPRING MEETING FOR 2023
AND WE'LL INVITE MEMBERS TO BE
PART OF THIS STEERING GROUP AND
THAT HELPS IDENTIFY THE WORKING
GROUP MEMBERS AND WEEP ESTABLISH
EX CHARGE THOSE WORKING GROUPS
AND WE'RE THINKING MAYBE TWO ON
LIBRARY MEETINGS WITH INDIVIDUAL
WORKING GROUPS AND CERTAINLY A
LOT OF E-MAIL EXCHANGE WITH THEM
AND OTHER TIMES TO GIVE THEM THE
IDEA OF WHAT WE'RE LOOKING FOR
AND LET THEM LOOK OVER THE PRIOR
PLAN AND THINKING ABOUT WHAT IS
GOING ON IN THE FIELD AND
FORMULATE THOSE PRIORITIES AND
AS I MENTIONED WE REALLY LIKE TO
INCLUDE INDUSTRY RESEARCHERS
MORE DIRECTLY IN THE RENEWAL AND
WE ARE A FACA COMMITTEE PART OF
THE EXECUTIVE BRANCH AND SO WE
HAVE TO DO THIS KIND OF NOT WITH
RESPECT TO CURRENT POLICIES AND
IT NEEDS TO BE TRANSPARENT WHAT
WE'RE DOING SO WE'D LIKE TO HAVE
A SEPARATE ON-LINE MEETING WITH
INDUSTRY RESEARCHERS AND WE CAN
MAKE SURE WE GET THE WORD OUT TO
AS MANY WHO ARE INTERESTED IN
PARTICIPATING AND HAVE THAT
EITHER BE LIVESTREAM SO PEOPLE
FROM THE PUBLIC CAN SEE WHAT IS
GOING ON OR HAVE DETAILED
SUMMARY OF THE DISCUSSIONS THERE
AND REALLY TO GET THE INPUT FROM
INDUSTRY HERE DIRECTLY INTO THE
RENEWAL OF THE ACTION PLAN AND
WE'D LIKE TO HAVE AN IN-PERSON
MEETING THAT WOULD INCLUDE NOT
ONLY ALL OF THE WORKING GROUPS
BUT ALSO THE MDCC ITSELF AND WE
CAN SCHEDULE THIS TO CORRESPOND
WITH THE FALL MEETING IN 2024
AND HAVE THE WORKING GROUPS ALL
MEETING THE DAY BEFORE AND THE
DAY AFTER AND THE MDCC MEETING
IS IF PEOPLE WANT TO PARTICIPATE
ATTEND BOTH THAT WOULD BE
AVAILABLE AND THEN WE'LL FINISH
UP SOME EDITING WITH HELP FROM
THE WORKING GROUPS AND STEERING
GROUP AND SOLICIT FOR PUBLIC
COMMENT AND AND ALSO AS I
MENTIONED BEFORE, IN THE SPRING
MEETING OF 2025, BRING THE
FINALIZED RENEWAL FOR 2025 TO
VOTE FOR NDCC AND WITH WOULD
PUBLISH IT IN OUR WEBSITE AND
REPORT OUT TO THE RELEVANT NIH
INSTITUTE COUNCIL BRIEFLY SO IN
20915 PLAN WE DEVELOPED A
PUBLICATION IN MUSCLE AND NERVE
THAT WE WERE LAST AUTHORS ON
TALKED ABOUT THE ACTION PLAN AND
THE MUSCULAR DYSTROPHY
COORDINATING COMMITTEE AND KIND
OF THE PROCESS THAT LED TO THE
ACTION PLAN AND IT INCREASED THE
VIS A LOT OF WHAT WE'VE DONE SO
WE MIGHT DO THAT AGAIN FOR THE
2025 PLAN.
THAT'S THE PROPOSAL AND I'D BE
HAPPY TO OPEN THE FLOOR FOR ANY
QUESTIONS.
I OPEN IT FOR ANY QUESTIONS.
EVERYBODY COOL WITH THAT?
>>Diana Bianchi: I THINK IT
LOOKS GREAT.
THERE'S ALWAYS QUITE A BIT WORK
DONE IN THIS DRAFT PLAN.
CONGRATULATIONS TO YOU AND YOUR
TEAM.
THE LINK THAT IS IN THE CHATBOX
IS THAT THE PROPOSED ACTION PLAN
OR THE 2015 ACTION PLAN?
I HAVEN'T CLICKED ON IT.
>>IT'S THE 2015 ACTION PLAN THE
ONE WE CURRENTLY HAVE ON OUR
WEBSITE.
FROM DONOVAN, HOW CAN
NON-MEMBERS BE INVOLVED?
WELL, YOU KNOW, MULTIPLE WAYS, I
THINK THAT WE'LL CERTAINLY BE
MEMBERS OF THE STEERING GROUP
WILL BE ABLE TO RECOMMEND WHO TO
INCLUDE ON THE DIFFERENT WORKING
GROUPS AND THAT IS ONE
OPPORTUNITY FOR NON MEMBERS TO
PARTICIPATE AND THEN OF COURSE
WE WILL BE POSTING THE DRAFT TO
THE VIA REQUEST SO ANYONE CAN
THE PUBLIC AND ON THE ACTION
PLAN SO THOSE ARE THE PLUS
WHATEVER WE HAVE NDCC MEETINGS
AND RELEVANT TO IT THEN OTHER
PLANTS CAN DEVELOP IF THE
DEVELOPMENT OF THE PLAN.
>>YEAH, HOW ARE THE
RECOMMENDATIONS IN THE DOCUMENT
INCORPORATED INTO FINAL
DECISION-MAKING AND HOW MUCH
AGENCY DO WE HAVE AS A COMMITTEE
OVER THESE DECISIONS?
>>I WOULD DEFER TO AN INSTITUTE
DIRECTOR AT LEAST IN TERMS OF
DESCRIBING MAYBE HOW NIH USES
THE ACTION PLAN.
>>I CAN FOLLOW WITH WALTER.
YOU HAVE THE HISTORY OF THE
PRIOR ACTION PLAN AS WELL.
>>THANK YOU, DIANA.
YOU KNOW, I THINK WE HAVE DONE
THIS VERY SIMILAR THINGS
MULTIPLE DIFFERENT TIMES FOR
DIFFERENT CONDITIONS AND IT'S
REALLY VERY IMPACTFUL IN TERMS
OF WHAT WE DO AS AN AGENCY GOING
FORWARD ON THE INSIDE AND ALSO
IT IS A GOOD GUIDE TO
INVESTIGATORS IN THE OUTSIDE
INTERESTED IN WHAT THE COMMUNITY
THINKS IS MOST IMPORTANT.
I THINK GLEN, FOR THIS ONE, YOU
KNOW, WHEN THEY ARE PURELY NIH
PLANS, WE'RE IN OUR COMFORT
ZONE.
THIS ONE IS GOING TO CUT ACROSS
MULTIPLE DIFFERENT AGENCIES SO
THAT'S WHERE I THINK WE'RE GOING
TO NEED A LITTLE BIT OF GUIDANCE
FROM EVERYBODY AROUND THE TABLE
ON HOW TO DO THIS, RIGHT.
WE DID SOMETHING LIKE THIS IN
THE INCOMPETENTER AGENCY PAIN
RESEARCH COORDINATING COMMITTEE
PUT TOGETHER A FEDERAL STRATEGY
FOR PAIN RESEARCH AND THAT WAS
NOT JUST NIH.
THAT MIGHT BE THE GROUP, LINDA
PORTER RAN THAT.
AT NIH.
BUT THERE WERE MULTIPLE AGENCIES
INVOLVED.
SO THAT MIGHT BE A GOOD ONE TO
TRY TO USE AS A PRECEDENT.
I'M TRYING TO THINK OF OTHER
ONES THAT WERE DONE WITH
MULTIPLE AGENCIES.
>>I WOULD SUGGEST THE RESEARCH
ON PREGNANT AND LACTATING WOMEN.
THE TASK FORCE THERE WAS
MANDATED THROUGH THE 21s
21st CURSE ACT IN 20716 AND
THEN HHS ASKED NIH TO LEAD THAT
TASK FORCE AND Dr. COLLINS
ASKED NICHD TO LEAD THE TASK
FORCE.
WE HAD REPRESENTATIVES FROM
MULTIPLE INSTITUTES AND CENTERS
AT NIH AND OTHER FEDERAL
AGENCIES SUCH AS THE CDC AND THE
NDA INVOLVED.
WE HAD ADVOCACY ORGANIZATIONS
AND WE HAD PHARMA INVOLVED SO
WITH A SERIES OF FOUR PUBLIC
MEETINGS, WE CAME UP WITH A
SERIES OF RECOMMENDATIONS AND
THEN WORKED AS A GROUP TO NARROW
THEM DOWN TOP 15 AND THEN IN AN
ANEXTENSION WE WORKED ON
RECOMMENDATIONS SO IT'S ANOTHER
EXAMPLE OF WORKING ACROSS MANY
GROUPS TO COME UP WITH A
CONSENSUS.
THERE WERE INDIVIDUAL
INVESTIGATORS INVOLVED AS WELL.
THERE'S OT QUESTION, GLEN.
>>Glen Nuckolls: WILL NBSTRN
HAVE A ROLE AND ALSO, A CM ACMG.
DO YOU RECOGNIZE THESE?
>>Diana Bianchi: YES, THE
AMERICAN COLLEGE OF MEDICAL
GENETICS AND GENOMICS SO THESE
ARE INVOLVED STAKEHOLDERS AND WN
WE HAD THE TASK FORCE FOR
EXAMPLE WE WOULD HAVE THE TASK
FORCE MEMBERS SITTING AROUND A
TABLE SUCH AS YOUR ALL SITTING
NOW BUT IN THE AUDIENCE AND WE
HAD MANY PROFESSIONAL SOCIETIES
PARTICIPATING AND THEY COULD GET
UP AND USE THE MICROPHONE.
IN A HYBRID ENVIRONMENT WE CAN
EXTEND THAT TO PEOPLE WHO DON'T
HAVE TO BE IN THE ROOM.
I AM ASSUMING THERE WILL BE AT
LEAST ONE OR MORE MULTIPLE
REQUESTS FOR INFORMATION SO THAT
IF PEOPLE ARE NOT IN THE ROOM OR
NOT AT THE MEETINGS, THEY WILL
DEFINITELY HAVE A CHANCE TO
WEIGH IN AND EXPRESS THEIR
OPINIONS.
>>BEFORE THIS MEETING, DAN, AID
MEETING ABOUT WHERE DOES
SCREENING AND DIAGNOSIS GOES
BECAUSE IT WAS ONE CHANGE FROM
THE 2015 PLAN INFORM THE 2025
PROPOSAL IS THAT IF IF IT'S
RESEARCH RELATED TO DEVELOPING
NEW DIAGNOSTIC STRATEGIES, OR
NEWBORN --
>>THAT I'M MORE CONCERNED ABOUT
AS A DISEASE WE DON'T SEE ON THE
OUTSIDE AND THE CLINICIAN SEIZE
FROM THE OUTSIDE IN AND THE
DISEASE ALSO WORKS FROM THE
INSIDE OUT.
WE'RE NOT AT THE POINT WHERE WE
THINK ABOUT IT LIKE WE THINK
ABOUT CANCER.
AND THE DISEASE WHAT WAS STAGED
THE DISEASE.
WE TALK ABOUT MORE IN TERMS OF
SCREENING, AND SEQUENCING.
WE THINK ABOUT SINGLE GENE
DISEASES.
I DON'T THINK AND I WONDER AND
THINK ABOUT LIKE CANCER.
STAGE ONE, STAGE 2, STAGE 3 AND
STAGE 4 WHERE YOU MAY HAVE AN
ACTIVE DISEASE PROCESS AND IT'S
GOING ON INSIDE AND YOU THINK
ABOUT SCREENING, I'M WONDERING
WHETHER YOU ARE PUTTING THAT IN
THE CLINICAL END OF THINGS WE
WANT TO SEE THE DISEASE AND WE
HAVE SOME ENTER CLINICAL TRIALS
AND IT MAY LEAD TO DISEASES OR
THE GOVERNMENT ALF HOLL HAPPENED
THAT MILD DEVELOPMENT ASPECTS OF
LAST WEEK.
AND THAT WE NEED TO TREAT THESE
DISEASES REALLY EARLY ON IN THE
PROCESS.
WHEN THE DISEASE IS NOT
MANIFESTING IN A CLINICAL
STRUCTURE THAT WE NEED TO BE
LOOKING FOR DISEASE IS AK IT
TIVE AND VERY ACTIVE AND GOING
ON IN THE MUSCLE.
AND I WORRY THAT YOU NOT BE
ABOUT THIS HOLISTICALLY AND WE
WANT TO MOVE INTO A TRIAL AND WE
WANT TO HAVE GENE THERAPIES AND
WE'RE WORKING ON DELIVERING
TOXICITY AND WE KNOW SOMETHING
ABOUT HOW DO WE ACQUISITION,
LOCATE, FUND THESE AND CREATE
THIS AS A DISEASE WHEN THEY'RE
AT STAGE 1.
NOT STAGE 4.
AND HOW WE GAGING MUSCULAR
DYSTROPHY.
MY QUESTION TO YOU WAS, IN THE
SLIDE INVOLVED AND MECHANISMS
WITH TREATMENT AND GIVING AN
INFRASTRUCTURE AND SCREENING THE
NUMBER OF THINGS AND THIS IS AN
AREA THAT IS MORE THAN JUST
SENDING IT ACROSS THE AND OTHER
AND ARE ARE WE GOING TO LOCK
THESE PATTERNS OF DISEASE AND
AND I'M THINKING ABOUT IT AND
THE REASON I HAVE THE E-MAIL WAS
THERE'S CONCERNS AND THEY HAVE
IT FROM AND THANK YOU FOR YOUR
TIME.
I'M DONE.
>>Glen Nuckolls: I THINK THAT
THE GENERIC ISSUE IN ALL THE
GENE THERAPIES IS TRYING TO GET
IT AS EARLY AS POSSIBLE.
WE HAD A DISCUSSION ABOUT
SOMETHING SIMILAR WHERE SOMEONE
WANTED TO GO IN AND WITH NOVEL
THERAPY AND THEY'RE AFRAID TO GO
INTO KIDS AND THEY WANT TO START
IN ADULT AND SOME PEOPLE SAY
IT'S TOO LATE YOU HAVE TO GO
INTO KIDS AND THIS IS SOMETHING
WE'RE ALL WRESTLING WITH.
IIS REALLY A BENEFIT IS GREATER
THE EARLIER YOU GO.
THE ISSUE IS REALLY, YOU KNOW,
HOW SAFE DO YOU HAVE TO AND THIS
AND AND WE DECIDED TO GO INTO
INFANTS BECAUSE THEY WERE GOING
TO DIE BY YEAR ONE AND IT
WORKED.
THIS IS AN ISSUE FOR A LONG
TIME.
>>I SEE JENNIFER LEVEE WROTE
SOMETHING IN THE CHATBOX.
DO YOU WANT TO COME OFF MUTE?
>>
>>I CAN READ IT.
SO, IT IS IMPORTANT TO CONSIDER
HOW VARIOUS MUSCULAR DYSTROPHIES
ARE AT VARIOUS DIFFERENT PLACES
IN DRUG DEVELOPMENT.
SOME HAVE APPROVED THERAPIES BUT
OTHERS HAVE HAD VERY LITTLE
RESEARCH DONE AND A MINIMAL
UNDERSTANDING OF THE
PATHOLOGICAL MECHANISMS.
BE CAREFUL NOT TO OVER REPRESENT
WORKING GROUPS WITH STAKEHOLDERS
THAT REPRESENT THE DISEASES
FURTHEST ALONG IN DEVELOPMENT AS
THIS WILL INFORM THE ACTION
PLAN.
AND I AGREE, UNLIKE SOME OF THE
OTHER STRATEGIC PLANS THAT NIH
HAS DEVELOPED, THINKING ABOUT
ALS PLAN, ADRD, FOR THE MUSCULAR
DYSTROPHY WE'RE TALKING ABOUT
MANY, MANY DIFFERENT TYPES OF
MUSCULAR DYSTROPHY WITH PERHAPS
35 DIFFERENT GENETIC CAUSES THAT
ARE ALL KIND OF LUMPED TOGETHER
AND WE HAVE TO CONSIDER WHERE
THEY ARE ALONG THE SPECTRUM OF
DISEASE AND DEVELOPING THERAPIES
AND IMPLEMENTING THOSE THERAPIES
SO THAT'S WHY WE'LL START THE
ACTION PLAN WITH MECHANISMS OF
DISEASE WHICH EVEN I THINK
DISEASES LIKE DUCHENNE COULD
BENEFIT FROM BETTER
UNDERSTANDING OF MECHANISMS AND
THAT MAY BE THE PRIMARY FOCUS
FOR OTHER FORMS OF MUSCULAR
DYSTROPHY.
IS THIS AND AND AND --
I CAN RESPONDS TO THAT.
THAT'S COME UP AT A NUMBER OF
DIFFERENT TIMES WHEN WE'VE
LOOKED AT OUR FUNDING IN THE
MUSCULAR DYSTROPHIES AND WE HAD
IN 2018, WE HAD AN OUTSIDE GROUP
THAT DID AN EVALUATION OF THE
WELL STONE MUSCULAR DYSTROPHY
RESEARCH PROGRAM AND ONE OF THE
SUGGESTIONS IS THAT IT -- THERE
ARE THE SAME GENES IN WHAT ARE
CALLED MYOPATHY SOME OF WHAT WE
CALL MUSCULAR DYSTROPHIES AND
YOU KNOW, THE BOUNDARY BETWEEN
DYSTROPHY AND OTHER DISEASES
EFFECTS SKELETAL MUSCLE AND
OTHER TYPES OF MUSCLE IS NOT ALL
THAT CLEAR.
IN THIS CASE, WHAT WE DO BEST IS
TO FOLLOW THE GUIDANCE FROM THE
LEGISLATION THE MD CARE ACT AND
IT IDENTIFIES A NUMBER OF TYPES
OF MUSCULAR DYSTROPHY AND THAT
WILL FOCUS ON BUT WE COULD END
INDICATE IN RENEWED ACTION PLAN
THAT A LOT OF THE SAME PROCESS
WILL CARRY OVER INTO CARE
DISEASES EFFECTING SKELETAL
MUSCLE.
>>WHAT STOPPING US FROM DEALING
WITH THE PRIMARY MUSCLE DISEASES
IN THIS?
STRATEGIC PLAN IF WE WANTED
ANYTHING?
>>SO I DON'T WANT TO PUT HER ON
THE SPOT BUT OUR PROGRAM
DIRECTOR FROM NIAMS HAS A LOT OF
DIFFERENT MUSCLE DISORDERS IN
HER PORTFOLIO AND SO HOW MUCH
WOULD IT EXPAND THE PLAN DO YOU
THINK IF WE INCLUDED CONGENITAL
HIMY ON AGENT' AND SO FOURTH.
>>THERE'S MANY MUSCLE DISORDERS
AND IT'S NOT A CLEAR BOUNDARY
BETWEEN SKELETAL MUSCLE AND WE
ALSO HAVE TO INCLUDE MOVING AWAY
FROM MUSCLE BECAUSE MUSCULAR
DYSTROPHIES HAVE COMPLICATIONS
SO MY PORTFOLIO HAS BOTH, ALL,
AND IT COULD POTENTIALLY DOUBLE
THE SIZE OF THE PROPOSED
RESEARCH AREAS.
MANY OF THEM ARE EARLIER LIKE A
LOT OF DYSTROPHY ARE LEADING THE
CHARGE SO IT MIGHT TILT THE PLAN
TOWARDS PERHAPS A MEMBERS THAT
FEEL COMFORTABLE BUT I AGREE
THAT A LOT OF THE PATHWAYS BEING
FORMED BY THE DYSTROPHIES THAT
ARE LEADING THE CHARGE ARE BEING
FOLLOWED VERY CLOSELY BY SOME OF
THE OTHER MY M MYOPATHY AND SOE
IN A VERY DIFFERENT PLACE.
>>IT MAY BE CHALLENGING TO
INCLUDE THE LIST OF WHAT WE
CURRENTLY CALL MUSCULAR
DYSTROPHIES IN OUR PLAN AND I
HAVE TO DRAW A BOUNDARY
SOMEWHERE.
ANY OTHER THOUGHTS ON THAT?
>>I GUESS I WOULD BE OPPOSED OT
BOUNDARIES OF THIS SEMANTIC.
I DON'T KNOW WHAT'S DO YOU
THINK.
>>IT'S SOMETHING THAT THE GROUP
SHOULD DISCUSS WHOEVER IS ON ON
THE INITIAL GROUP?
I MEAN, I WOULD FAVOR BEING
INCLUSIVE AND THEN LOOKING AT
THE PRACTICALITY AND THEN TRYING
TO NARROW IT DOWN.
I MEAN, WHEN WE DID THE NICHD
STRATEGIC PLAN WE INITIALLY HAD
270 SCIENTIFIC THEMES AND --
>>MAYBE WE CAN JUST FRAME A
QUESTION, PROS AND CONS AND
OFFER A VOTE AND SEE WHAT THE
GROUP WANTS TO DO.
>>YEAH, WELL, AS Dr. BIANCHI
SUGGESTED THAT MAYBE THAT
STEERING GROUP THAT IS
VOLUNTEERS FROM THE MDCC CAN TRY
TO ADDRESS THAT.
AND CONSIDER WHAT WOULD IT LOOK
LIKE IF WE EXPAND TO PERHAPS
GENETICALLY SIMILAR OR OTHER MY
ON THEE THAT LEAD TO MUSCLE
WASTING AND THE MERCHANDISE AND
SCREENING.
>>OKAY, I HOPE WE GET GOOD
VOLUNTEERS AND A LOT OF
VOLUNTEERS FOR THAT COMMITTEE
BECAUSE IT'S GOING TO BE A
IMPORTANT WORK TO DO.
>>I GUESS, WHAT ARE YOUR
CONCERNS?
20 MENS AGO WE TALKED ABOUT
MUSCULAR DYSTROPHY ALS AND THEY
WERE SYNONYMOUS WITH THE
MUSCULAR DYSTROPHIES.
AND IT TOOK A LOT OF WORK TO
WHERE YOU GET NIH AND CDC AND
OTHER AGENCIES TO GET THE
MUSCULAR DYSTROPHIES PRIMARY
TALKING AND DISCUSSION BUT Dr.
BIANCHI SUCCESSES FOR
GENERATIONS AGO WHO WOULD GO TO
NIH WHAT ARE YOU DOING FOR
MUSCULAR DYSTROPHIES AND THEY
WOULD SAY WE'RE ACCEPTING THE
$80 MILLION TO MUSCULAR
DYSTROPHIES.
WHAT ARE YOU SPENDING ON ON THE
TENDENCY AND LOOKING THEIR WAY
AND BACK INTO THE LEARNED AND
MUSCULAR DYSTROPHIES AND
VARIATION AND I WOULD ENCOURAGE
THE COMMITTEE TO KEEP A SHARP
EYE OUT FOR MUSCULAR DYSTROPHY
AND DISEASES OF THE PRIMARY
MUSCLE NOT NEURONS AND THINGS
AND SECOND THING, I THINK THAT
THE ISSUE OF GETTING DRUGS INTO
MUSCLE DELIVERING AND TOXICITY
AND THEN THOSE DRIVERS THEY NEED
A LOT OF REINFORCEMENT NOT ON
THE BACK END AND WE ARE STILL
FLYING BLIND WITH GETTING THINGS
AND CRISPR AND SO I WOULD
ENCOURAGE YOU TO KEEP A VERY
SHARP FOCUS TO HOW TO GET DRUGS
INTO MUSCLE INTO MUSCLE
SPECIFICALLY AND THEN JUST GO TO
THE THRESHOLD.
THESE DISEASES, AND THE OTHER
ONE MIGHT NEED JUST A
INTERACTION AND SO WITH THE
TOXICITY JUST THE ISSUE HERE OF
INDUSTRIES AND THEY KEEP TURNING
THEIR HEADS AND TOXICITY AND
TOXICITY AND DELIVERY, HOW TO
GET IT IN AND HOW TO ACCESS AND
IT'S ENOUGH WORK JUST TO FOCUS
ON THE EXISTENCE AND WHAT THE
DEFINITION IS.
>>Diana Bianchi: THANK YOU,
DAN, FOR THOSE COMMENTS.
>>Glen Nuckolls: WE MIGHT ASK
PAUL IF HE WOULD LIKE TO COMMENT
BECAUSE FOR YOUR ORGANIZATION,
MUSCULAR DYSTROPHY ASSOCIATION,
YOU GUYS INCLUDE AL S AND QUITE
A NUMBER OF OTHER CONDITIONS SO
KIND OF OPERATIONALLY, DO YOU
HAVE A DEFINITION FOR
DYSTROPHIES?
>>MYOPATHY TOO.
>>Glen Nuckolls: UH-HUH.
>>THAT'S RIGHT.
I THINK THE PLAN TO BRING THIS
QUESTION TO THE STEERING
COMMITTEE PROBABLY IS THE MOST
PRO AT BECAUSE THAT IS THE
COMMITTEE THAT WILL LEAD THE
WORK.
I THINK WITHIN OUR VIEWPOINT, WE
CERTAINLY HAVE BEEN LOOKING AT
THE CONDITIONS UNDER OUR
UMBRELLA MORE AND MORE
GENETICALLY THAN HOW THEY'VE
BEEN CLINICALLY DEFINED IN THE
PAST.
THE DIFFERENCE BETWEEN MYOPATHY
AND MUSCULAR DYSTROPHY CAUSED BY
THE SAME GENETIC UNDERPINNINGS,
IS BECOMING IF YOU WILL, LESS
AND LESS IMPACTFUL.
AND CERTAINLY HOW WE LOOK AT IT
AND FRANKLY IN OUR VIEWPOINT
HEALTH THE FIELD IS LOOKING AT
IT AS WELL.
I WOULDN'T WANT US TO BE CAUGHT
UP IN, LET'S ONLY FOCUS THE PLAN
ON A NARROW DEFINITION OF
MUSCULAR DYSTROPHY WHEN THE
IMPLICATIONS OF THE PLAN COULD
HAVE SOME REALLY RELEVANT
BENEFITS TO THE MYOPATHY THAT
ARE GENETICALLY RELATED IF NOT
CAUSED BY THE SAME GENETIC
UNDERPINNING.
WHEREAS, WHEN WE START EXPANDING
INTO DISEASES SUCH AS ALS AND
OTHER PERHAPS CLASSICALLY
DEFINED DISEASES AS NEURO
MUSCULAR BUT PERHAPS STILL
GENETICALLY UNRELATED TO A
MUSCULAR DYSTROPHY, THERE MIGHT
BE MORE LOGIC TO DRAW A LINE
AROUND THE MUSCULAR DYSTROPHIES
IN THAT WAY.
CERTAINLY, IF THERE'S THAT
GENETIC UNDERPINNING AND LESSONS
WITHIN A MUSCULAR DYSTROPHY ARE
VERY APPLICABLE AND TO THE
RELATED CON TEN DAL MYOPATHY WE
WOULDN'T SEE BOTH OF THEM BEING
INCLUDED IN THE SAME EFFORT.
>>Glen Nuckolls: THANK YOU.
>>Diana Bianchi: OKAY.
WELL, PEOPLE MIGHT BE REED FOR A
BREAK.
WE'RE RUNNING JUST A LITTLE BIT
AHEAD.
SO HOW ABOUT IF WE GIVE EVERYONE
A 17-MINUTE BREAK.
I HAVE 2:43 ON MY COMPUTER IT'S
2:42 IN THE ROOM.
BUT PLEASE BE BACK PROMPTLY AT
3:00 AND WE WILL THEN HEAR FROM
THE STRATEGIC PLANS OF THE MDCC
ORGANIZATIONS.
THE MEMBER ORGANIZATIONS.
DOES THAT SEEM LIKE A PLAN?
EVERYONE CAN STRETCH THEIR LEGS.
THE FACILITIES ARE DOWN THE
HALL, BE BACK AT 3:00.
WELCOME EVERYBODY BACK.
IT'S 3:00.
NEXT ON THE AGENDA WE'LL HAVE
PRESENTATIONS FROM SEVERAL MDCC
MEMBER ORGANIZATIONS WITH THEIR
STRATEGIC PLANS.
AS WE WORK TO RENEW THE MDCC
ACTION PLAN YOU JUST HEARD
ABOUT, WE NEED TO KNOW ABOUT AND
BUILD UPON THE PLANS DEVELOPED
BY THE PATIENT ADVOCACY GROUPS
AND OTHER FUNDING ORGANIZATIONS.
THE MDCC ACTION PLAN WILL
DESCRIBE OVERARCHING GOALS AND
STRATEGIC PLANS OF OTHER
ORGANIZATIONS WILL PROVIDE MORE
DETAILED DISEASE SPECIFIC
OBJECTIVES.
TODAY WILL BE PART ONE OF THIS
SESSION FOR OUR NEXT MEETING IN
THE FALL, WE'RE GOING TO HAVE
PRESENTATIONS FROM ADDITIONAL
DYSTROPHY ADVOCACY GROUPS.
SO, FIRST UP IN THIS SESSION IS
JAMSHID ARJOMAND THE CHIEF
SCIENTIFIC OFFICER FOR THE FSHD
SOCIETY.
OVER TO YOU.
>>HI, THANK YOU, VERY MUCH.
THANK YOU TO THE NDCC COMMITTEE
FOR THE INVITATION AND I WANTED
TO EXTEND MY THANKS TO DIANNE,
THE CO FOUNDERS OF THE SOCIETY
FOR HIS TIRELESS AND ON GOING
EFFORTS WITH THE MDC AND AND
THANK YOU VERY MUCH SO, TO GET
STARTED I DIDN'T KNOW THIS IS MY
FIRST TIME ATTENDING THIS
MEETING I DIDN'T KNOW IF PEOPLE
WERE FAMILIAR WITH THE DISEASE
AND WHO WE ARE AT THE SOCIETY
AND THEN TALK ABOUT THE
STRATEGIC PLAN THE THERAPEUTIC
ACCESS RATER WHICH IS AIMED AT
ADDRESSING GAPS AND CLINICAL
TRIAL READINESS AND THE PLANS WE
HAVE GOING FORWARD WITH AN
ALLIANCE WITH INDUSTRY TO
ADDRESS THESE GAPS.
WHO MAY NOT BE FAMILIAR, FHSD IS
AS THE NAME IMPLIES THAT THE
DISEASE AFFECTS THE UPPER BODY
MUSCLES AND AS YOU SEE IN THE
MRI AND IT CAN EFFECT IN THE
MAUD' AND IT'S QUITE OFTEN VERY
A SEM ET IT TRICK AND THE LEFT
SIDE AND RIGHT SIDE MORE EFFECTS
AND IT'S PROGRESSIVE AND ABOUT
25% OF THE POPULATION AND DOES
END UP REQUIRING WHEELCHAIRS AND
THEY LOOSE MOBILITY AND THE IT'S
COMPLICATED AND THE PREVALENCE
AND IN 20,000 AND THE REASON WHY
WE DON'T KNOW THIS IT'S VERY
DIFFICULT TO DO THE GENETIC
TESTING IN THE POPULATION TO SEE
HOW MANY ASYMPTOMATIC GENE
CARRIERS ARE WALKING AMONG US.
THERE ARE TWO TYPES OF FSHD TYPE
ONE OR TYPE TWO.
BOTH OF THEM ARE CAUSED BY THE
MISS INVESTIGATION OF A TOXIC
GENE CALLED DUX4.
FSHD TYPE 2 ARE MUTATIONS IN
GENES THAT EPIGENETIC REGULATORY
GENES SO THEY BASICALLY AND THAT
IS WHEN YOU HAVE DUX4 EXPRESSION
AND IT'S ESTIMATED THAT MAYBE
ABOUT 20% OR SO OF THE
POPULATION ARE ACTUALLY
SPONTANEOUS AND CONVERSIONS
HOWEVER WHEN YOU SPEAK WITH
EXPERT CLINICIANS AND THEY SAY
THEY DIAGNOSED A PATIENT AND
THEY SEE THE ENTIRE FAMILY QUITE
OFTEN, FAMILY MEMBERS ARE ALSO
EFFECTED AND THIS IS BEEN
UNDIAGNOSED SO IT'S AN UNDER
DIAGNOSE INDICATION.
SO WHO WE ARE IS THE FSHD
SOCIETY AND RESEARCH FOCUSED
ADVOCACY NON-PROFIT GROUP AND
OUR MISSION IS TO HELP FAMILIES
LIFT BEST LIFE THAT THEY CAN WE
HAVE A RESEARCH GROUP ON ONE
SIDE AND THE ADVOCACY GROUP IS
TO BUILD COMMUNITY AWARENESS TO
DISSEMINATE IMPORTANT
INFORMATION ON AND AND SO WE
KNOW WHAT IS COMING UP.
WE'RE TRYING TO HAVE AN
INTERNATIONAL OUTREACH BECAUSE
THERE ARE OTHER ADVOCACY GROUPS
IN OTHER COUNTRIES AND I'LL
TOUCH ON THAT MOMENTARILY.
ON THE RESEARCH SIDE, LIKE MANY
OTHER ADVOCACY GROUPS WE RAISED
FUNDING AND WE SUPPORT RESEARCH
TO AND SOME OF THE FUNDING THAT
NIH PROVIDES AND I'LL GO INTO
MORE DETAIL ABOUT THE
THERAPEUTIC ACCELERATOR AND THIS
IS A FOCUS ON TRYING TO ADDRESS
THE GAPS THAT INDUSTRY MIGHT
HAVE AND BRINGING THEIR DRUGS
AND THEIR THERAPEUTICS FORWARD.
OF COURSE, I WANTED TO HIGHLIGHT
HERE IS THE ADVOCACY GROUP AND
OVERLAP WHEN THE RESEARCH
INVOLVES THE PATIENT COMMUNITY
SO WE'VE BEEN VERY SUCCESSFUL
AND I GIVE AN EXAMPLE OF HOW
WE'RE ABLE TO GET THE COMMUNITY
TO PARTICIPATE AND THE FDAs
EXTREMELY LED PATIENT FOCUSED
DRUG DEVELOPMENT AND AND AS WE
GO AND TRYING TO INCLUDE AN EX
PANNED OUR EFFORTS BY ENGAGING
WITH INDUSTRY AND ALSO WITH THE
REGULATORY.
SO JUST TO GIVE YOU AN EXAMPLE
OF WHAT OUR COMMUNITY ENGAGEMENT
DOES IS WE STARTED A CHAPTER
PROGRAM A COUPLE YEARS BEFORE I
JOINED AND THIS IS PROVIDING
PATIENTS AND CHAPTERS AND AND
METROPOLITAN AREAS AND THEY DO
SOME FUNDRAISING AND PROVIDE
SUPPORT AND INFORMATION TO THE
COMMUNITY IN THAT AND IN THAT
AREA GEOGRAPHICAL REGION SO WHEN
THERE'S A WE FIND AND IN THOSE
AREAS AND THESE CHAPTERS, WE
HAVE OVER 30 OF THEM IN THE U.S.
AND THEY'RE STARTING TO EXPAND
IN CANADA AND I BELIEVE THIS MAP
IS ALREADY AND IN CANADA AND ON
EDUCATIONAL FRONT, WE DO A LOT
OF DIFFERENT TYPES OF
EDUCATIONAL PROGRAMS AND ONE OF
THEM IS THE FSH D AND THESE ARE
PATIENT FOCUSED MEETINGS THAT
TAKE PLACE AT CLINICAL CARE
CENTER AND IT'S AN OPPORTUNITY
FOR THE COMMUNITY TO IMMEDIATE
AND COMMERCIALISTS AND
CLINICIANS AND AND KNOW WHAT IS
OFFERED IN THEIR REGION AND
EDUCATIONAL PROGRAMS AND THE
UNIVERSITY AND THESE ARE
WEBINARS AND WE JUST STARTED
THESE ON-LINE COMMUNITIES CALLED
THE GATHERING PLACE ON SPECIFIC
TOPICS SO FOR INSTANCE, WE HAVE
A GATHERING PLACE AND THOSE WHO
ARE EFFECTED WITH THE DISEASE.
AS I MENTIONED, OUR OUTREACH IS
TRYING TO BE GLOBAL AND WE
HELPED ORGANIZE THE FSHD WORLD
ALLIANCE AS YOU CAN IMAGINE.
THERE ARE MANY PATIENT ADVOCACY
GROUPS INTERNATIONALLY IN
DIFFERENT COUNTRIES AND SO WE
HELP ORGANIZE THEM INTO THE
WORLD ALLIANCE AND NOW WE WERE
AND ALLIANCE AND ADVANCE
PROGRAMS AND MAKE SURE THAT THE
PRIORITIES AND GOING FORWARD, WE
TAP INTO OUR WE'LL FOCUS ON
ACCESS FOR THE DRUGS.
SO ON THE RESEARCH SIDE, THIS IS
WHERE I'M GOING TO FOCUS MY
PRESENTATION IS ALL OF DRUG
DEVELOPMENT BEGINS WITH A BASIC
UNDERSTANDING OF THE PATH OF
PHYSIOLOGY OF THE DISEASE SO OUR
ORGANIZATION LIKE OTHER NON
PROFITS IN THE AREA SUCH AS
FRIENDS OF FSH RESEARCH AND
CHRIS CAREEN OWE FOUNDATION AND
IN AUSTRALIA AND GLOBAL AND
WE'VE BEEN FUNDING A LOT OF NIH
AND DA AND ALL THESE OTHER
ORGANIZATIONS AND SOME BASIC
RESEARCH AND HOPEFULLY IT'S AN
INCENTIVE FOR DRUG DEVELOPERS
THEN TO START LOOKING AT
DEVELOPING DRUGS AND TREATMENTS
AND SO THE IMD ENABLING OR
INITIAL WE HAVEN'T DONE A LOT IN
THAT SECTOR AND AND TO ENTER THE
CLINIC, THERE ARE SOME
FUNDAMENTAL THINGS THAT EVERY
DRUG COMPANY IS GOING TO NEED
AND SOME OF THESE INCLUDE ASSAY
OUTCOME MEASURES, MODELS AND SO
THESE ARE THE INSTRUMENTS AND
THE TOOLS THAT THEY'RE GOING
INFORM NEED AND IN THE CLINIC
AND THEY'RE GOING TO NEED AN
INFRASTRUCTURE AND THEY CAN
CARRY OUT THEIR CLINICAL TILES
AND AND IN 2019 COLLABORATIVE
MEETING AND THIS AND MODERATED
ORDER AND YOU ALL KNOW AND AND
LEGAL REPRESENTATION FROM THE
FDA AND AND NIH GROUPS AND AT
THIS MEETING AND WE WANTED MAKE
PRO PHOTO IT AS ATTRACTABLE TO
ADD TO THEIR PIPELINE SO AND
ATTENDED THAT MEETING FOUR OF
WHICH, AN FSHD PROGRAM AND THEIR
PIPELINE AND THE AND TO IDENTIFY
THE GAPS IN CLINICAL TRIALS
RIGHT NOW AND ONE ARE THE MAIN
HURDLES THAT COMPANIES ARE GOING
TO NEED IN ORDER TO ADVANCE
THEIR THERAPEUTICS.
SO AS YOU CAN IMAGINE, THESE ARE
COMMON TO A LOT OF DISEASES AND
WE HEARD THAT THERE'S A GREAT
NEED FOR BIOMARKERS AND BOTH
BLOOD BASED BIOMARKERS TO AVOID
THE MUSCLE BIOPSIES AND THERE'SA
BETTER NEED FOR OUTCOMES MEASURE
AND ASSESSMENT TOOLS.
THEY HAVE REALLY BEEN TOUCHDOWN
IN MAKING SURE THAT THE THERE
WAS A NETWORK FOR CLINICAL
TRIALS AND WE HAD HELPED.
>>THEY HAVE HISTORY AND IF
THERE'S A WAY OF INTEGRATING
THESE IT WOULD BE BENEFICIAL AND
THE GENETICS ARE COMPLICATED AND
IMPROVING THE GENETIC AND I'LL
EXPLAIN WHAT WE DID AND
REGARDING THE BLOOD BIOMARKERS
WE LAUNCHED TWO STUDIES THE LOW
HANGING FRUIT TYPE OF STUDIES
LOOKING FOR DUX4 IS A TRANCE
SCRIPPS FACTOR THAT TURNED ON A
COUPLE HUNDRED DIFFERENT GENES
AND WE WERE LOOKING FOR THE
DOWNSTREAM AGAINST THAT ARE
ACTIVATED BY TO SEE IF THEY
COULD BE DETECTED IN THE BLOOD
AND SO -- PATIENT GROUPS THAT
MIGHT BE A PROCESSING AT A
DIFFERENT RATE OR FASTER AND IF
WE CAN EYE FINE THOSE PATIENTS
THEN WE CAN RECRUIT THEM INTO
TRIALS MORE EFFECTIVELY.
AND THE OTHER COLLABORATION WE
SET UP WITH THE CRITICAL
INSTITUTE AND WITH THE
SPECIFICALLY WITH THE RARE
DISEASE CURES ACCELERATOR DATA
ANALYTICS PROGRAM AND THIS IS TO
HARNESS THE TRIAL RESULTS FROM
PREVIOUS CLINICAL TRIALS AND THE
FUTURE OF CLINICAL TRIALS AND
GET THEM PUT INTO A REPOSITORY
SO THAT WE CAN USE THEM MAYBE TO
MODEL BETTER CLINICAL DESIGN.
AS I MENTIONED, WE RAN WE HAVE A
HEALTH ECONOMIC STUDY THE COST
BURDEN OF LIVING WITH THE
DISEASES AND WE ALSO WE ARE
TAPPING INTO THE REIMBURSEMENT
OR CLAIMS DATA FROM USING THE
HEALTHCARE DATABASE.
ON THE JOINTLY FUNDED
INITIATIVES, WE HELPED EXPAND
THE CLINICAL TRIAL RESEARCH
NETWORK WITH FOUR MORE SITES AND
WE HELPED LAUNCH THE RESULT
STUDIES CALLED MOVE AND NOW
THERE'S SUPPORT FROM OTHER
GROUPS SUCH AS FSHD CANADA IS
SUPPORTING THE CONTINUED
EXPANSION OF SIDES INTO CANADA
AND U.S. AND EUROPEAN SITES.
I'LL TALK ABOUT THIS AND THIS IS
WHERE WE SET UP A SPONSORED
AGAIN AT THE TIME I CAN TESTING
PROGRAM FOR THE COMMUNITY.
THIS WAS A PILOT PROGRAM AND
I'LL GO INTO THAT.
AND TRIED TO CREATE AN ALLIANCE
WHERE THE FACT AND ALLIANCE AND
ASSESSMENT AND CLINICAL TOOLS
AND WHAT WE'RE REALLY LOOK TO GO
DO IS ONCE THE ALLIANCE IS
ESTABLISHED IT CREATES AN
OPPORTUNITY FOR PUBLIC-PRIVATE
PARTNERSHIP AND IT WAS GREAT TO
HEAR Dr. NUCKOLIS MENTIONED IT
WAS PART OF WHAT THE NDCC IS
LOOK TO GO DO IN THE FUTURE.
WOWEWERE THE THIRD VIRTUAL MEETG
THAT TOOK PLACE.
WE STILL MANAGED TO GET ABOUT
400 PARTICIPANTS AND PATIENTS TO
COME INTO THE MEETING AND WE
DRAFTED A REPORT THAT WAS THEN
SUBMITTED TO FDA AND I BELIEVE
THAT THERE ARE LINKS TO THIS AND
IT WILL GO ON OUR WEBSITE AND
GOING FORWARD, THERE ARE
OPPORTUNITIES TO ENGAGE WITH THE
FDA ON MORE SPECIFIC TOPICS AND
WE'LL LOOK INTO DOING THAT.
FOR INSTANCE, IMPORTANCE OF
UPPER MOBILITY IS SOMETHING THAT
WE'VE HEARD FROM THE COMMUNITY
AS BEING REALLY CRITICAL FOR
THEIR QUALITY OF LIFE AND
TYPICAL MEASUREMENTS ARE LOOKING
FOR MOVING AND WHEELCHAIR USE
HOWEVER WHEN PEOPLE CAN'T FEED
THEMSELVES OR CAN'T TAKE CARE OF
THEMSELVES BECAUSE THEIR ARMS
DON'T WORK, IT'S REALLY EFFECTS
THEIR QUALITY OF LIFE.
SO WE WANT TO MAYBE HAVE A
MEETING SPECIFICALLY ON THAT.
REGARDING GENETIC TESTING, WHERE
BORROWED A PAGE FROM THE JANE
FOUNDATION AND THE LEN GIRDLE
DISEASE GROUPS TRYING TO PROVIDE
FULLY RESPONSE ORDER GENETIC
TESTING FOR THE COMMUNITY AND
THE REASON WHY THIS IS REALLY
IMPORTANT IS BECAUSE GENETIC
TESTING IS A CRITICAL INCLUSION
CRITERIA FOR ENROLLMENT INTO A
CLINICAL TRIAL AND THAT'S THE
FIRST STEP AND WE'VE HEARD FROM
A LOT OF OUR PATIENTS THAT FIRST
OF ALL, MANY CLINICIANS WERE NOT
EXPERTS IN FSHD DON'T ORDER IN
THE PAST, GENETICS ARE
COMPLICATED SO QUITE OFTEN, THE
TESTS ARE VERY EXPENSIVE AND
INSURANCE COMPANIES NOT OFTEN
DON'T WANT TO REIMBURSE FOR THE
COST OF THE TEST WHICH CAN RANGE
BETWEEN $2,000 TO $3,000.
BUT ALSO, WHEN WITH WE'VE HEARD
FROM THOSE PATIENTS WHO HAVE
RECEIVED THE TEST, IT'S MUCH
THEY DON'T HAVE GENETIC
COUNSELING AND IF THIS GOES ON
THE RECORD IT CAN AFFECT THEIR
ABILITY TO GET LONG-TERM CARE
AND LIFE INSURANCE AND THOSE
THINGS SO WE WANTED TO SETTING
UP SOMETHING COMPREHENSIVE AND
RE REACHED OUT TO INDUSTRY WHO
WOULD SUPPORT TH THIS DEFER ANDE
SET UP A PILOT PROJECT WHERE WE
DID SEVERAL THINGS.
ALL OF THE PATIENTS, IT'S A
DIRECT TO PATIENT PROCESS,
PROGRAM, SO THEY CAN REACH OUT
TO A GENETIC COUNSELING GROUP
AND THEY RECEIVED THE GENETIC
COUNSELING IF THEY NEED THE
INCLUSION EXCLUSION CRITERIA FOR
MOST CLINICAL WHICH IS THEY HAVE
TO MANIFEST SYSTEMS AND HAVE A
CLINICAL DIAGNOSIS AND HAVE A
FAMILY HISTORY OF DISEASE AND
THE ADULTS WERE QUALIFIED WITH
THIS PROGRAM AND THEY HAVE A
TEST WITH FSHD TYPE 1 AND TYPE
2.
FOR THE 150 PEOPLE THAT FIRST
SIGNED UP, WE HAVE RESULTS NOW
ON ABOUT 90 OF THEM AND IT'S
GREAT TO KNOW THAT SOME PEOPLE
GO ON THEIR MEDICAL RECORD
DECLINED A TEST AND OVER ALL,
WE'VE GOT VERY GOOD RESPONSE AND
WE'RE STILL RECEIVING THE
RESULTS FROM THIS TEST SO WHAT
WE PLAN TO DO GOING FORWARD IS
SEE IF WE CAN EXTEND THE
SPONSORED PROGRAM IN THE U.S.
AND HOPEFULLY HAVE IT BE OPEN
INDEFINITELY AND ALSO WE'RE
LOOKING NOW TO EXPAND THIS
TESTING PROCESS IN OTHER
COUNTRIES WHERE THEY HAVE A VERY
LIMITED CAPACITY.
SO, AS I MENTIONED, GOING
FORWARD, WHAT WE'RE LOOKING TO
DO IS SET UP THIS INDUSTRY
ALLIANCE CALLED FACT ALLIANCE
AND THE BENEFITS TO INDUSTRY
REALLY IS THAT BY JOINING FORCE
AND JOINING THE RESOURCES IT
REALLY DERISKS ALL OF THESE
ACTIVITIES AND COLLECTIVELY THEY
CAN PROBABLY ADDRESS MORE GAPS
THAN THEY WOULD BE ABLE TO DO ON
THEIR OWN.
IT ALSO IMPORTANTLY AVOIDS
WASTING RESOURCES AND AVOIDS
REDUNDANCIES AND FOR THIS
PROGRAM TO BE SUCCESSFUL,
OBVIOUSLY, IT HAS TO BE TIMELY
AND IT HAS TO BE QUICK SO IT
MATCHES THEIR DRUG DEVELOPMENT
TIME LINES AND IT NEEDS TO HAVE
OPEN DATA SHARING SO I WAS
REALLY GREAT TO HEAR Dr.
BIANCHI MENTIONING THAT RESEARCH
NOW WILL HOPEFULLY BE NO MORE
MORATORIUM ON DATA ACCESS GOING
FORWARD AND THAT WOULD BE GREAT.
OBVIOUSLY ANOTHER THING THAT
WOULD BE HELP [SPEAKING FOREIGN
TOHAVE REGULATORY INPUT.
THESE STUDIOS WOULD BE THROUGH
SUBJECT MATTER EXPERTS AND WITH
INPUT FROM INDUSTRY AND
HOPEFULLY REGULATORY BODIES AND
THIS IS REALLY THE AREA WHERE
THERE'S AN OPPORTUNITY FOR THE
PUBLIC-PRIVATE PARTNERSHIP.
AND AS YOU CAN SEE THAT THE
TOPICS HAVEN'T CHANGED MUCH FROM
WHAT I SHOWED IN 2019.
THERE'S GREAT INTEREST IN
BIOMARKERS, IMAGING BIOMARKERS
AND SEEING IF CHANGES IN FATTY
AND MUSCLE CAN BE SURROGATE END
POINT FOR DISEASE PROCESSION AND
THERE'S AN INTEREST IN PEDIATRIC
NATURAL HISTORY AND THERE'S
STUDIES THAT HAVE BEEN PROPOSED
TO DO SOMETHING VERY SIMILAR TO
WHAT THE ADULT MOVEMENT ARE
TAKING PLACE AND THERE'S ALSO A
GREAT DEAL IN REMOTE AND REAL
WORLD ASSESSMENTS AND HERE, AFTR
THE PANDEMIC, CLINICAL TRIALS
STARTED AGAIN AND THE TYPICAL
TRIAL SITES ARE INUNDATED WITH
DEMAND.
HAVING PATIENTS GO IN-PERSON TO
THE CLIN SICK A BURDEN TO THE
PATIENT AND IT'S ALSO VERY
DIFFICULT FOR THE SIDES TO
ACCOMMODATE SO ANY TOOLS MAKING
IT EASIER TO PARTICIPATE IN THE
TRIAL IS QUITE A BENEFIT SOLVE
GO ALONG WITH THAT IS INNOVATIVE
TRIAL DESIGNS BECAUSE WE ARE
DEALING WITH A RARE DISEASE AND
THERE'S A LIMITED NUMBER OF
PATIENTS THAT WOULD QUALIFY FOR
ANY SUCH TRIAL AND JUST AS TO GO
ALONG WITH THAT ALSO IS THAT IT
WOULD BE NICE TO EXPAND ON THE
CLINICAL TRIAL NETWORK AND
CURRENTLY THERE'S ABOUT 18 SITES
IN THE U.S. THAT HAVE A
FAMILIARITY WITH FSHD BUT
THERE'S MORE AND WESTBOUND WORK
WITH MUSCULAR DYSTROPHY
ASSOCIATION AND 150 CLINICAL
SITES THAT QUALIFY FOR RUNNING
TRIALS.
AND I JUST WANTED TO FINISH OFF
HERE WITH THE CURRENT LANDSCAPE
IN FSHD.
WHEN I JOINED IN 2019, THERE
WERE EIGHT COMPANIES THAT
ATTENDED THE INDUSTRY
COLLABORATIVE MEETINGS AND
WITHIN THE THREE THREE DROPPED
OUT.
NOWER WE'RE COUNTING 20
COMPANIES IN THE SPACE
DEVELOPING DRUGS.
AND IT'S FANTASTIC.
A LOT OF THEM THEM ARE STALL AE
STILL ON STEALTH MODE BUT THIS
IS FROM THE WEBSITE AND THREE
ACTIVE TRIALS AND WE HAVE TWO OR
THREE NEXT YEAR AND THERE'S A
LOT OF INTEREST IN THIS KIND OF
INDUSTRY COLLABORATIVE APPROACH
TO ADDRESSING THE GAPS AND
CLINICAL TRIALS READINESS AND
WHERE WE'RE GOING TO LAUNCH THIS
INDUSTRY ALLIANCE AND THE
MEETING WILL THEN FINISH WITH
WORLD ALLIANCE MEETING OF ALL
THE VOLUNTEERS GROUPS FROM
INTERNATIONAL COUNTRIES.
THANK YOU, VERY MUCH.
I'LL TAKE SOME QUESTIONS.
>>Diana Bianchi: THANK YOU FOR
THAT VVERY CLEAR AND EXCITING
PRESENTATION.
THIS IS WHY WE NEED A NEW
STRATEGIC PLAN.
THE OLD STRATEGIC PLAN FOR THE
MDCC IS CLEARLY OUTDATED AND SO
WE LOOK FORWARD TO INCORPORATING
SOME OF THESE GREAT ADVANCES.
SO, THE FLOOR IS OPEN FOR
QUESTIONS.
GUSTAVO, YOU CAME ON VIDEO.
DO YOU HAVE A QUESTION?
>>Glen Nuckolls: NO.
THE ROOMIS VERY QUIET TODAY.
>>Glen Nuckolls: IF THERE ARE
QUESTIONS, PUT IT IN THE CHAT
AND I CAN ANSWER ON-LINE.
>>Diana Bianchi: ON-LINE.
>>Diana Bianchi: LET'S MOVE ON
TO OUR NEXT PRESENTER, Dr.
TANYA STEVENSON THE MIO TONIC
DYSTROPHY FOUNDATION AND TONIA
WILL BE PRESENTING REMOTELY.
>>THANK YOU, I'M GOING TO
PRESENT MY SCREEN HERE.
AT THIS.
>>THANK YOU FOR IN INVITING ME
TODAY.
I'M EXCITE TODAY TALK ABOUT THE
STRATEGIC WORK THE MYOTONIC DIS
TOE FEE FOUNDATION HAS DONE OVER
THE YEARS.
SO, THE MYOTONIC FOUNDATION IS
THE LEADING GLOBAL ADVOCATE
HELPING PATIENTS AND FAMILIES
NAVIGATE THE MYOTONIC DYSTROPHY
PROCESS AND THE VERY FIRST
RESEARCH CONTACTED BY NEWLY
DIAGNOSED PATIENTS, FAMILIES,
SOCIAL WORKERS, PHYSICIANS, AND
ALL OVER THE WORLD.
THERE ARE OVER 25,000 PEOPLE
RIGHT NOW IN OUR MDF COMMUNITY.
WE'RE SORT OF CONSIDERED THE
NECK SUN OF COMMUNITY CARE AND
CURE.
WE SUPPORT AND CONNECT THE
MYOTONIC DISTRICT COMMUNITY.
WE PROVIDE RESOURCE AND ADVOCATE
FOR CARE.
WE ACCELERATE RESEARCH TOWARDS A
CURE AND RESEARCH.
OUR WORK AND OUR DECISIONS ARE
GUIDED BY SIX CORE VALUES.
COMMUNITY, COL APP RACE, I AM
PATHY, HOPE, URGENCY, AND
KNOWLEDGE.
AND FOR THOSE WHO ARE A LITTLE
LESS FAMILIAR WITH MYOTONIC
DYSTROPHY IT'S A GENETIC RARE
PROGRESSIVE REPEAT EXPANSION
DISEASE.
IT'S OFTEN CONSIDERED THE MOST
VARIABLE OF ALL KNOWN
CONDITIONS.
IT AFFECTS AS MANY AS 1/2100
PEOPLE ALTHOUGH MOST ARE NOT
DIAGNOSED.
THERE ARE TWO TYPES, TYPE ONE IS
A RESULT OF A MUTATION IN DMPK
GENE AND TYPE TWO THE RESULT OF
MUTATION IN THE CNBP GENE.
AND IT IS THE MOST COMMON FORM
OF ADULT MUSCULAR DYSTROPHIES
BUT SYMPTOMS CAN PRESENT AT ANY
AGE.
IT EFFECTS EVERYBODY'S SYSTEM
AND THE SYMPTOMS ARE DIFFERENT
IN EACH INDIVIDUAL, EVEN WITHIN
THE SAME FAMILY, THE SYMPTOMS
CAN LOOK VERY, VERY DIFFERENT.
TYPICALLY, THIS DISEASE
EXPERIENCES ANTICIPATION WHICH
IS THE SYMPTOMS ARE MORE SEVERE
WITH EACH GENERATION.
THERE'S NO CURE.
CURRENTLY NO FDA APPROVED
TREATMENTS.
SO JUST A FI QUICK SNAPSHOT OF R
PRIMARY INITIATIVES.
WE ARE BRINGING TOGETHER THE
WORLD'S LEADING EXPERTS TO
CREATE CLINICAL CARE GUIDELINES
AND RECOMMENDATIONS.
WE HAVE TOOL KITS TO HELP FOLKS
FIND A DOCTOR.
WE HAVE A LOT OF RESOURCE AND
INFORMATION ON OUR WEBSITE.
WE HAVE OVER 30 INTERNATIONAL
SUPPORT GROUPS AND THEY'RE
OFFERED IN THREE DIFFERENT
LANGUAGES AND THEY'RE BOTH
GEOGRAPHY AND TOPIC BASED.
WE HAVE WHAT WE CALL A WARN LINE
OR A CALL LINE.
A HELP LINE FOR FAMILIES AND
CLINICIANS WHO ARE LOOKING FOR
RESOURCES AND SUPPORT.
WE INVEST SIGNIFICANTLY IN
GRANTS AND IN FELLOWSHIPS,
CURRENTLY WE HAVE INVESTED OVER
$10 MILLION IN MYOTONIC
DYSTROPHY RESEARCH.
WE PROVIDE AN ANNUAL DM ONLY
CONFERENCE LARGEST ONE IN THE
WORLD.
OUR WHOLE ECOSYSTEM COMES
TOGETHER.
WE ARE HOSTING THE MYOTONIC
DYSTROPHY DIGITAL ACADEMY, THE
LARGEST DIGITAL LIBRARY FOR
MYOTONIC DYSTROPHY IN THE WORLD
OVER 170 VIDEOS, 130 HOURS OF
CONTENT.
WE WORK WITH INDUSTRY AND OUR
STUDY AND TRIAL SITES AROUND THE
GLOBE TO SUPPORT CLINICAL TRIALS
IN THE STUDIES.
AND WE DOLL SIGNIFICANT ADVOCACY
FOR OTHER WARENESS RAISING IN
GENERAL AND IMPROVED AND
INCREASED RESEARCH FUNDING.
A BIT ABOUT OUR STRATEGIC
PLANNING BACKGROUND, WE WERE
FOUNDED IN 2007 BY SHANNON LORD
AND FAMILIES WHO WERE LOOKING
FOR ANSWERS AND RESOURCES.
THAT'S WHEN OUR FIRST MISSION
STATEMENT WAS DEVELOPED.
THE STRATEGIES FOCUSED ON
DEVELOPING RESPONSIVE PROGRAMS
AND FINDING THE REVENUE TO FUND
THOSE PROGRAMS.
WE THEN MADE STRATEGIC
INVESTMENTS TO CREATE THE
MYOTONIC DYSTROPHY REGISTRY THAT
HAS 2,400 PEOPLE REGISTERED
N-2015, WE CREATED A PLAN FOR
OUR CURE NOT INVESTMENTS AND
RESEARCH INVESTMENTS AND IT WAS
VERY CLEAR THAT WE NEED TODAY DO
MORE TO HELP ELIMINATE THE
BARRIERS TO DRUG DEVELOPMENT.
IN 2020, WE HAD AN OPPORTUNITY
TO REALLY DO AN ASSESSMENT OF
OUR COMMUNITY NEEDS AND DEVELOP
RESPONSIVE GOALS AND OBJECTIVES.
SO, IN 2015, WHICH THE LAST
ACTION PLAN WAS 2015 AND I
WANTED TO LOOK WHAT WAS
HAPPENING AT THAT POINT AND TIME
AND THERE WAS ONLY ONE COMPANY
FOCUSED ON MYOTONIC DYSTROPHY.
TODAY WE HAVE THREE DOZEN
COMPANIES LOOKING AT MYOTONIC
DYSTROPHY AND INSTITUTIONS
FOCUSED ON THE DISEASE.
THERE ARE FOUR ACTIVE CLINICAL
TRIALS AND WE KNOW OF THREE THAT
ARE GOING TO BE ESTIMATED TO
LAUNCH IN THE NEXT YEAR BUT WE
HOPE THAT THERE ARE MORE.
SEW WHAT DID WE DO IN 2015 TO HE
CAN SELL RATE THE DRUG
DEVELOPMENT PIPELINE.
WE MADE A 5 MILLION-DOLLAR
INVESTMENT.
FIRST WE HELD THE PATIENT
FOCUSED DRUG DEVELOPMENT SESSION
WITH THE F.A.A. AND WE HAD A
PATIENT REPORT THAT CAME OUT IN
2017.
AND THE STUDIES INVOLVED IN IT
AND WE EXPANDED OUR RESEARCH
FELLOW SHOP PROGRAM.
FELL SHIP PROGRAM.
Dr. BIANCHI MENTIONED THE GAB
A RECEPTORS AND THE DOCTOR WHO
WAS ACTUALLY ONE OF THE FELLOWS
FOR MDF WHILE SHE WAS WORKING ON
THAT PROJECT AND Dr. ERIC
WAYNE WHO ALSO COMMENTED ON THAT
PROJECT, HE WAS AN PDF FELLOW SO
WE'RE HOPING TO IN MY WITH
CLINICAL CARE RECOMMENDATION AND
GUIDELINES FOR DM1, 2,
CARDIOLOGY AND ANESTHESIAIA,
PULL MINUTOLOGY AND OTHERS.
AND WE WORKED TO HELP EXPAND THE
NATURAL HISTORY STUDY FROM
MYOTONIC DYSTROPHY TYPE ONE.
AND THAT WAS OVER ABOUT FIVE
YEARS OF INVESTMENTS IN
DIFFERENT PROJECTS AND IN THE
SPRING OF 2021, WE EMBARKED ON A
NINE-MONTH LONG STRATEGIC
PLANNING PROCESS TO ENVISION THE
NEAR TERM FUTURE OF THE
ORGANIZATION OVER THE NEXT THREE
YEARS.
IT WAS PEOPLE TYPE ONE, TYPE TWO
AND INTERNATIONAL PARTNERS AND
OUR BOARD MEMBERS AND STAFF AND
CONSULTANTS.
AND PROCESS WAS THREE PHASES.
LEARNING IDEATION AND ITERATIVE
DESIGN.
WE'RE VERY PROUD OF THE
COMMUNITY ENGAGEMENT THAT WE
WORKED VERY, VERY HARD AND TO
CREATE AND TO ENCOURAGE AND WE
HAD OVER 800 MEMBERS OF THE
COMMUNITY PARTICIPATING AND
SHARING THEIR EXPERIENCE AND 713
WERE SURVEY PARTICIPANTS AND WE
HAD 39 ONE-ON-ONE INTERVIEW WITH
STAKEHOLDERS AND D.N. EXPERT
INTERVIEWS AND 18 FOCUS GROUPS
WITH 71 TOTAL PARTICIPANTS.
SO THE COMMUNITY ENGAGEMENT.
WHO ARE ALL THOSE 800 PEOPLE?
THEY WERE AFFECTED BY MYOTONIC
DYSTROPHY AND CAREGIVERS.
OUR IS SUPPORT GROUP
FACILITIESORS, CLINICIANS,
PARTNERS, RESEARCHERS, BOARD
MEMBERS, WE HAD OUR DONORS
INVOLVED IN IS THIS AND OR
SCIENTIFIC ADVISORY AND OTHER
RARE DISEASE PATIENT ADVOCACY
ORGANIZATIONS.
AND ULTIMATELY THAT PLAN CREATED
A VISION STATEMENT, UPDATED
MISSION STATEMENT, OUR CORE
VALUES, THE OVERARCHING GOALS
FOR THE NEXT THREE YEARS AND
THOSE ALSO INCLUDED STRATEGIES
AND MEDICINE TRICKS AND A
TIMELINE AND BUDGET WITH THOSE
ACTIVITIES.
WHAT WERE THOSE THREE OVER THE
GOALS FOR THIS PROJECT AND THIS
PLAN AND COMMUNITY CARE, CURE
AND ORGANIZATIONAL STRENGTH.
IT WAS REALLY CLEAR THAT THE
VOICE OF THE COMMUNITY AND OUR
ECOSYSTEM TOLD US WE NEED TO
IMPROVE AND EXPAND ACCESS TO
HEALTHCARE AND RESOURCES TO MEET
THE NEEDS OF PEOPLE LIVING WITH
DISEASE AND THEIR FAMILIES.
WE NEEDED TO ELIMINATE BARRIERS
FOR DRUG DEVELOPMENT AND TO
BUILD A STRONG AND SUSTAINABLE
ORGANIZATION SO WE'RE NOW IN
YEAR TWO OF OUR STRATEGIC PLAN.
AND NOT SOMETHING THAT WE JUST
COMPLETED, THIS WEEK, WE
COMPLETED OUR MYOTONIC DYSTROPHY
RESEARCH LANDSCAPE ASSESSMENT
INCLUDING 91 INDIVIDUALS, 49
INTERVIEWS AND FOCUS GROUPS, 39
INSTITUTIONS, AND NINE
COUNTRIES.
WE WERE LOOKING FOR THE GAPS AND
BARRIERS THAT EXIST FROM
MYOTONIC DYSTROPHY RESEARCH AND
BARRIERS TO ACTIVATING AND
MAINTAINING HIGH FUNCTIONING
RESEARCH SITES AND WELL ENROLLED
STUDIES AND TRIALS AND WE WANTED
TO KNOW HOW AND COULD FURTHER
SUPPORT PROGRESS IN THE FIELD,
WE HAVE RELEASED THE MYOTONIC
RESEARCH MAP SO THIS IS AN
INTERACTIVE VISUAL BASE OF OUR
ECOSYSTEM AND IT HAS OVER 68,000
DATA POINTS AND WE HOPE TO
RELEASE IN THE NEXT SIX MONTHS.
IN THE LAST YEAR AS PART OF THIS
PLAN, WE'VE HELPED TO LAUNCH A
GLOBAL ALLIANCE FOR MYOTONIC
DYSTROPHY AWARENESS AND THIS IS
ON FIVE CONTINENTS REPRESENTING
OUR ENTIRE ECOSYSTEM AND A
PATIENT ADVOCACY ORGANIZATION
AND RESEARCHES IN ACADEMIA AND
HOSPITALS AND CLINICS, SCHOOLS,
BIOTECH AND PHARMA AND WE WORK
TO DESIGNATE SEPTEMBER 15th AS
INTERNATIONAL MYOTONICEL
DYSTROPHY AWARENESS DAY.
WE HAVE MONTHLY MEET THE DM DRUG
DEVELOPER SESSIONS AND IT WAS
CLEAR FROM OUR COMMUNITY THAT
THEY DIDN'T UNDERSTAND THE DRUG
DEVELOPMENT PROCESS WAS AND WHAT
WAS GOING TO HAPPEN EX HOW THEY
WERE INVOLVED AND THEY WANTED TO
ASK QUESTIONS.
SO, OUR INDUSTRY PARTNERS HAVE
AGREED TO AND IT'S BEEN VERY,
VERY SUCCESSFUL AND APPRECIATED
BY THE COMMUNITY.
WE'RE ALSO HELPING TO FUND
FURTHER EXPANSION OF OUR
MYOTONIC CLINICAL RESEARCH
NETWORK.
WE'RE NOW MAINTAINING THE PUBLIC
VERSION OF THE DM DRUG
DEVELOPMENT PIPELINE.
WE SERVE AS A LIAISON BETWEEN
INDUSTRY AND THE DM COMMUNITY
AND THIS IS NOW OUR SECOND YEAR
OF PROVIDING EARLY CAREER
RESEARCH WHICH ARE 200,000
GRANTS WHICH WE HAVE NOT DONE
PRIOR TO THIS STRATEGIC PLAN.
ADDITIONALLY, WE HAVE EXPANDED
THE FELLOWSHIP PROGRAM.
WE NOW HAVE 53 RESEARCH FELLOWS
SINCE 2009 AND THAT COVERS 19
INSTITUTIONS AND FIVE COUNTRIES
AND ABOUT 90% STAY IN THE FIELD
OF MYOTONIC DYSTROPHY AND DATA
FROM THE FELLOWSHIP PROGRAMS
HAVE BEEN USED TO LEVERAGE
LARGER FEDERAL AND OTHER GRANTS,
OFTEN PILOT PROGRAMS THAT SORT
OF JUST LAUNCH INTO THESE HUGE
MANY GREAT FEDERAL GRANTS WHICH
HAVE BEEN REALLY FANTASTIC SEE.
WE HAVE ADDITIONAL LANGUAGES AS
WE HAVE CLEARLY LEARNED FROM OUR
COMMUNITY THAT THERE'S NOT A LOT
OUT THERE AND NOT IN ENGLISH AND
WE ARE DEVELOPING NEW PATIENT
FACING RESOURCES.
EARLY TESTING AND DIAGNOSTIC
INITIATIVES.
WE HAVE RESEARCH IN PROGRAM
INVESTMENTS AND DECISIONS THAT
ARE MADE IN THE NEXT COUPLE OF
MONTHS AND WE ARE HOPING THAT
THE RESEARCH LANDSCAPE ANALYSIS
WILL HELP US TO MAKE SOME MORE
OF THOSE DECISIONS.
THAT'S IT.
THANK YOU.
THANK YOU Dr. STEVENSON.
AGAIN, ANOTHER VERY CLEAR AND
WELL ORGANIZED PRESENTATION.
DO WE HAVE QUESTIONS FOR TANYA?
>>THANK YOU MANY OF THAT WAS A
NICE PRESENTATION.
I WAS CURIOUS ABOUT THE MYOTONIC
DYSTROPHY RESEARCH MAP THAT YOU
WERE DESCRIBING WITH 68,000 DATA
POINTS.
CAN YOU GIVE SOME EXAMPLES OF
WHAT ARE THE DATA POINTS AND
POSSIBLE USES OF THAT MAP?
>>YES.
SO, THE DATA POINTS LOOK AT
EVERY PUBLICATION THAT IS OUT
THERE AND HOW IT CONNECTS TO WHO
THE RESEARCHERS AND THE AUTHORS
ARE AND WHERE THEIR INSTITUTIONS
ARE AND WHAT KIND OF STUDIES ARE
BEING DONE AND HOW THAT MIGHT OR
MIGHT NOT CONNECT TO ALL OF THE
DRUGS THAT ARE IN DEVELOPMENT,
THE DIFFERENT COMPANIES THAT ARE
DEVELOPING THOSE DRUGS AND IT'S
THIS FANTASTIC INTERACTIVE MAP
WHERE YOU CAN SEE WHAT THOSE
CONNECTIONS ARE ALL AROUND THE
GLOBE SO IF YOU REALLY WANT TO
SEE WHO IS FOCUSED ON MYOTONIC
TYPE ONE TO SEE WHO IS INVOLVED
IN PUBLICATIONS AND HOW THEY'RE
CONNECTED.
IT'S A PRETTY PHENOMENAL MAP AND
I'M HAPPY TO SHARE THE LINK AND
I'M SORRY I DIDN'T THINK TO
SHARE THE LINK BUT IT'S ON OUR
WEBSITE.
I WOULD BE HAPPY TO SEND THAT
OVER.
>>Diana Bianchi: I WONDER IF
NEXT YEAR WE'LL BE SHOWING SOME
GPT4 VERSIONS OF EVERYTHING OUT
THERE.
IT WAS AMAZING.
SO ERIC LANG HAS PUT UP THE MAP
AND WE CAN CLICK ON IT AND IN
THE MEANTIME, IF THERE ARE NO
OTHER QUESTIONS WE'LL MOVE TO
THE THIRD AND LAST PRESENTER WHO
IS MARIELENA MCGWIRE
REPRESENTING THE CONGRESSLY
DIRECTED MEDICAL RESEARCH
PROGRAM OF THE U.S. ARMY MEDICAL
RESEARCH AND DEVELOPMENT
COMMAND.
THAT'S Dr. MCGWIRE.
SO, OVER TO YOU.
>>THANK YOU, VERY MUCH, Dr.
BIANCHI.
AND I WANT TO THANK THE
COMMITTEE FOR THE OPPORTUNITY TO
PRESENT TODAY.
IT'S BEEN A WHILE SINCE WE'VE
HAD AN OPPORTUNITY OR I'VE HAD
AN OPPORTUNITY TO PRESENT.
JUST FOR FUTURE REFERENCE, THE
CONGRESSLY DIRECTED MEDICAL
RESEARCH PROGRAMS, I'LL ABOUT BY
AT ACRONYM, CCDMDRP AND I'LL
TELL YOU THE PROGRAM UNDER THE
CDMRP.
SIDDIQUI
>>BEFORE I START TALKING ABOUT
THE DESCHENN, SPECIFICALLY ABOUT
OUR DESCHENN PROGRAM, SO CDMRP
IS TRANSFORMING HEALTHCARE
THROUGH INNOVATIVE AND IMPACTFUL
RESEARCH.
CDMRP STARTED BY CONGRESS ALL
THE WAY BACK IN 1992 WHEN BREAST
CANCER ADVOCATES PUSHED FOR MORE
FUNDING TO SUPPORT SPECIFICALLY
BREAST CANCER RESEARCH.
SINCE THAT PROGRAM WAS INITIATED
AND IT WAS VERY SUCCESSFUL
PROGRAM, CDMRP HAS ACTUALLY
GROWN TO NOW SUPPORT 35 TARGETED
PROGRAMS COVERING A WIDE ARRAY
OF BIOMEDICAL RESEARCH AREAS.
SO, WHAT ARE WE FUNDING?
WELL WE FUND ALL OF OUR PROGRAMS
ARE REALLY FOCUSED ON FUNDING
INNOVATIVE AND IMPACTFUL
BIOMEDICAL RESEARCH.
WE DO THAT IN TERMS OF THAT WE
WILL FUND RESEARCH ALL OVER THE
WORLD AND IN FACT IN THE PAST
THREE YEARS, WE HAVE FUNDED
RESEARCH IN 23 OTHER COUNTRIES
OUTSIDE OF THE UNITED STATES.
AND WE DO THIS USING IN TERMS OF
HOW WE CARRY OUT THIS WORK IS WE
USE A TWO-TIER REVIEW PROCESS
FOR THE REVIEW OF THE PROPOSALS,
APPLICATIONS AND THIS TWO-TIER
REVIEW PROCESS INVOLVES NOT ONLY
SCIENTIST AND CLINICIANS BUT
ALSO INVOLVES CONSUMERS.
THE INDIVIDUALS, PATIENTS,
SURVIVORS, PARENTS, CAREGIVERS,
AND THE LIKE WHO ARE ACTUALLY
LIVING OR WORKING WITH
INDIVIDUALS WITH THE PARTICULAR
DISEASE OR CONDITION OR INJURY.
AND BEHIND ALL OF THIS RESEARCH,
OUR GOAL IS TO REALLY ACCELERATE
RESEARCH SOL WE CAN MOVE IT
FASTER TO ACHIEVE CURES AND
BREAKTHROUGHS THAT WILL IMPROVE
LIVES.
SO, MOVING ON THERE ARE KEY
HALLMARKS ABOUT CDMRP THAT I'D
LIKE TO TOUCH UPON.
THE FIRST IS THAT CONGRESS ADDS
TARGETED RESEARCH FUNDS TO THE
DOD BUDGET.
THE MONEY FOR OUR PROGRAMS ARE
NOT PART OF THE PRESIDENT'S
BUDGET.
THEY'RE ADDED ON AFTERWARDS WHEN
THE BUDGET IS SENT TO CONGRESS
AND THE DOD WE DO NOT ASK FOR O
WHY THE FUNDS NOR DO THE FUNDS
THAT GO TO SUPPORT ALL OF THESE
PROGRAMS THAT THEY DON'T
TAKEAWAY FROM ANY OTHER DoD
RESEARCH AREAS.
CONGRESS AND ADDING THESE FUNDS
SPECIFIES THE AMOUNT AND
PROVIDES DIRECTION IF THERE'S
ANY SPECIFIC FOCUS OR INTENT
THAT THEY WOULD LIKE TO SEE WITH
THE EXPENDITUTHE EXPENDITURE OF.
WE USE A TWO-TIER PROCESS
RECOMMENDED BY THE NATIONAL
ACADEMY OF MEDICINE AND PART OF
THIS WAS RECOMMENDATIONS TO FOR
CONSUMERS WHO ARE REALLY THE
TRUE NORTH FOR OUR PROGRAMS.
THEY PARTICIPATE THROUGHOUT THE
REVIEW PROCESS AS WELL AS BEING
INVOLVED WHEN PROGRAMS ARE
DETERMINING WHAT THEIR GOALS ARE
GOING TO BE AND FOCUS AREAS AND
INVESTMENTS STRATEGIES SO, THEY
REALLY ARE CONSUMERS,
PARTICIPATION IS REALLY SORT OF
A FOUNDATION BEDROCK TO OUR
PROGRAMS.
ALSO, I WOULD SAY A UNIQUE
BENEFIT TO THE TYPES OF
APPROPRIATIONS THAT WE RECEIVED
TO SUPPORT THESE PROGRAMS IS IT
ALLOWS FOR US TO RESPOND VERY
QUICKLY TO THE CHANGING NEEDS IN
A PARTICULAR FIELD.
ALTHOUGH ALL OF OUR PROGRAMS
WILL SET LONGER TERM GOALS, WE
DO EVALUATE VAL ANNUALLY, EVERY,
WHAT IS HAPPENING AND CAN ADJUST
OUR INVESTMENT STRATEGIES BASED
ONTO THE CURRENTS SITUATIONS AND
FOR DUCHENE MUSCULAR DYSTROPHY
PROGRAM IT START INSIDE FISCAL
YEAR 201 AND YOU CAN SEE IN THE
BAR GRAPH THE APPROPRIATIONS THE
PROGRAM HAS RECEIVED OVER THE
YEARS AND WE SAW A TRIPLING OF
OUR FUFUNDS FROM $3 MILLION TO
$10 MILLION IN FM20 THAT MADE A
DIFFERENCE IN TERMS OF THE
NUMBER AVENUE WARDS AND THE
TYPES OF AWARDS THAT ARE ABLE TO
OFFER AND SO, CDMRP, WE'VE
DEVELOPED AND USED A COMMON
PROGRAM MANAGEMENT APPROACH FOR
ALL OF OUR PROGRAMS AND HOWEVER
EACH PROGRAM WILL DEVELOP IT'S
OWN TAILORED GOALS AND UNIQUE
VISION BASED ON WHAT IS NEEDED
IN THE RESEARCH FIELD.
SO, WHEN THE CYCLE BEGINS IN
TERMS OF RECEIVING AN
APPROPRIATION, THE PROGRAM AND
SOMETIMES ARE MORE ESTABLISHED
PROGRAMS, WILL HOLD OF A
STAKEHOLDERS MEETING TO GATHER
INPUT FROM BOTH THE RESEARCH AND
ADVOCACY CONSUMER COMMUNITY AND
DETERMINE WHAT IS NEEDED OUT IN
THE FIELD AND WHAT ARE THE
RECOMMENDATIONS FOR ESTABLISHING
THE RESEARCH PROGRAM.
SO, FOR DUCHENES BACK IN 2011,
WE HELD A STAKEHOLDERS' MEETING
AND FOR THAT MEETING, WE INVITED
REPRESENTATIVES FROM GOVERNMENT
FUNDING AGENCIES AND THE CDC AND
NINDS WELLS NIAMS AND WE ALSO
INVITED ACADEMIC CLINICAL
RESEARCHERS IN THE FIELD OF
DUCHENE'S RESEARCH AND ALSO
REPRESENTATIVES AND YOU CAN SEE
THE ORGANIZATIONS THAT WERE
REPRESENTED AT THAT MEETING AND
WE ALSO FELT IT WAS IMPORTANT TO
INCLUDE REPRESENTATION FROM
INDUSTRY AND WE HAD ONE
INDIVIDUAL FROM INDUSTRY ATTEND
A STAKEHOLDERS MEETING SO OUR
TAKE HOLDERS MEETING, WE HAD
SENT OUT AN RFI TO THE
PARTICIPANTS AND ASKING THEM TO
IDENTIFY WHAT THEY SAW AS GAPS
IN BASIC RESEARCH AS WELL AS
THERAPEUTIC DEVELOPMENT AND JUST
TRANSLATIONAL RESEARCH IN
GENERAL.
WE ALSO ASKED THE STAKEHOLDERS
TO IDENTIFY WHAT THEY SAW AS
OPPORTUNITIES AND THE DMD
RESEARCH AND PROVIDE
RECOMMENDATIONS ON PERHAPS OUR
INVESTMENTS FOCUS FOR TREATING
AND MANAGING DMD FOR THIS
PROGRAM.
SO, THE OUT PUTS FROM THAT
STAKEHOLDERS' MEETING WERE THEN
USED TO INFORM THE NEXT STEP
WHICH IS A VISION SETTING
MEETING AND WE ACTUALLY HOLD
57th YEAR THESE MEETING WHEN
WE RECEIVED A CONGRESSIONAL
APPROPRIATION, WE'RE GOING TO
HOLD A VISION SETTING MEETING
WITH WITH OUR STANDING PANEL AND
THIS PAP HE WILL WILL ESTABLISH
THE GOALS FOR THE PROGRAM FOR
THAT YEAR AND WHAT ARE OUR
RESEARCH PRIORITIES AND GOING TO
BE AND DETERMINE WHAT IS THE
FUNDING STRATEGY AND FOR THE
PROGRAM THAT YOU ARE PROVIDING
THOSE RECOMMENDATIONS AND SO THE
PANEL FOR THE DMDC IS COMPLIES
AND WE RESEARCHERS AND
CLINICIANS AND REPRESENTATIONS
ON INDUSTRY AND CONSUMERS FROM
THE FIELD OF THE MUSCULAR
DYSTROPHY AND ALSO FROM OUR
ADVOCACY GROUPS AND MANY OF
THESE INDIVIDUALS ACTUALLY
PARTICIPATED IN THE ORIGINAL
STAKEHOLDERS MEETING AND SO
DURING OUR VISION SETTING
MEETING, ON THE SLIDE, WE TAKE
INTO CONSIDERATION, WE ALWAYS
LOOK AND CONSIDER ANY
CONGRESSIONAL LANGUAGE THAT HAS
BEEN PROVIDED SO THAT WE MAKE
SURE WE STAY TRUE TO THE INTENT
AND WE ALSO WILL AND HOLD
DISCUSSION TO IDENTIFY OKAY
WHERE ARE OUR RESEARCH GAPS OUR
CAPABILITY GAPS AS WELL AS NOT
ONLY IN FOR THE PROGRAM AND THEN
ULTIMATELY WHAT WHAT THE 'EM
PACT IS GOING TO BE AND WITHIN
OUR PROGRAMS WE WANT TO ACHIEVE
THE LARGEST IMPACT WITH THE
FUNDS THAT WE HAVE AVAILABLE AND
SO WHEN THIS PROGRAM STARTED UP
THE DIRECTION FOR THE DMDRP HAS
BEEN TO SUPPORT TRANSLATIONAL
RESEARCH AND TO FACILITATE
THERAPEUTICS FOR DMD AND YOU MAY
REMEMBER WAS AROUND $3 MILLION
TO INVEST IN RESEARCH SO WE
WANTED TO BE ABLE TO LEVERAGE
THOSE FUNDS AND WITH ALL THE
OTHER GROUPS THAT ARE FUNDING
RESEARCH AND HAVE OUR BIGGEST
IMPACT AND IT WAS FELT THAT
SUPPORTING THERAPEUTIC
DEVELOPMENTS CERTAINLY IN THAT
TIMEFRAME WAS AN AREA THAT WE
COULD HAVE OUR BIGGEST IMPACT,
PARTICULARLY IF WE WERE LOOKING
TO TRY AND SUPPORT THAT ARE
PRECLINICAL AND READINESS AND
WHAT ARE THE SUPPORT AND IN THAT
SPACE.
CURRENTLY, THE STRATEGIC
PRIORITIES ARE WE HAVE THREE
POINTS HERE AND THE FIRST IS TO
ACCELERATE DISCOVERY AND
DEVELOPMENT OF THERAPEUTICS AND
ALL LOOKING WITH A PATH INTO
CLINICAL APPLICATIONS DID SO
BOTH VERY EARLY AGE ALL THE WAY
THROUGH THE OLDER AGE AND
INDIVIDUAL AND OUR SECOND POINT
IS WE ARE INTERESTED IN THIS IS
SOMETHING THAT WE HAVE HE CAN
PANNEDDED INTO MORE RECENTLY AS
ADVANCED UNDERSTANDING OF THE
EFFECTIVE DUCHENNE ON NOT ONLY
ON SKELETAL MUSCLE AND HEART BUT
THE BONE CENTRAL NERVOUS SYSTEM
GASTROEN AT THE SCENE TINNAL
SYSTEM ACROSS THE LIFESPAN OF
THE MUSCULAR DYSTROPHY AND THEN
FINALLY ANOTHER AREA THAT WE
REALLY TRY TO SUPPORT THE MORE
RESEARCH WE CAN BRING INTO THE
FIELD WE CAN INCREASE OUR
OPPORTUNITY OF BRINGING NEW
IDEAS INTO RESEARCH AND BRING IN
NEW TREATMENTS AND OUT COME
MEASURES AND THE LIKE FOR
DUCHENES.
TO SUPPORT THESE RESEARCH
PRIORITIES, WE HAVE I WOULD
ACTUALLY SAY FIVE MAIN FOCUS
AREAS AND THE FIRST THAT WE
STARTED FOUR YEARS AGO, THAT IS
FOCUSING ON ADDRESSING
OPPORTUNITIES AND CHALLENGES AND
DEVELOPING SAFE AND EFFECTIVE
MACRO MOLECULAR CELLS CELLULAR
THERAPIES SO I WOULD SAY WE'RE
LUCKY AT THIS POINT THAT
DUCHENES THERE ARE TREATMENTS
OUT THERE IN CLINICAL TRIAL
TESTING OR ON THE VERGE OF
MOVING FORWARD INTO CLINICAL
TRIALS AND WHAT WE'VE LEARNED TO
DATE AND THE IMMUNE THEY HAVE
THEIR CHALLENGES OR NEED
IMPROVEMENTS SO WE'RE STARTING
ASKING FOR SORT OF NEW IDEAS AND
INNOVATIVE IDEAS ON HOW TO
ADDRESS THOSE CHALLENGES FOR
THERAPIES AND WHEN WE LOOK
TOWARDS CLINICAL TRIALS LOOKING
TO SUPPORT IND ENABLING OR
CLINICAL STUDIES THAT ARE
DESIGNED TO IMPROVE CARE AND
QUALITY OF LIFE.
WE'RE LOOKING AS I MENTIONED
BEFORE, TO LOOKING AT ASSESSMENT
OF CLINICAL TRIAL TOOLS AND
OUTCOMES AND IN PARTICULAR,
LOOKING WITH A FOCUS ON UNDER
STUDIED SYSTEMS SO AGAIN
EXAMPLES LOOKING AT THE
COGNITIVE CARDIAC OR GI SYSTEMS
AND AS WELL AS AGE RANGES FROM
INFANTS, TODDLERS TO OUR NON
AMBULATORY POPULATION.
FINALLY OUR MOST RECENT FOCUS
AREA IS LOOKING TO SUPPORT
NATIONAL -- NATURAL HISTORY
STUDIES IN UNDER STUDY SYSTEMS
AND IN PARTICULAR GOING BACK TO
THE COGNITIVARD YACK AND G.I.
SYSTEM AND OR ACROSS THE AGE
RANGES ALL WITH THE NAME TOWARDS
CLINICAL TRIAL READINESS SO, OUR
INVESTMENT STRATEGY TO FOCUS
AREAS WE HAVE NOW OFFERED TWO
DIFFERENT FUNDING MECHANISMS AND
ONE GOING FROM BENCH TO BEDSIDE
AND WE HAVE AN IDEA DEVELOPMENT
AWARD AND THE I.D.A. THAT IS
SPECIFICALLY USED TO ADDRESS THE
FOCUS AREA ABOUT CHARGES AND
BEING SAFE AND EFFECTIVE
THERAPIES SO THIS IS THE AWARD
MECHANISMS AND WE'RE LOOKING AT
NEW IDEAS AND INNOVATIVE IDEAS
THAT ARE TRYING TO LOOK AT AND
COME UP WITH WAYS TO GET AROUND
THE CURRENT PROBLEMS THAT WE ARE
FINDING WITH THE THERAPIES THAT
ARE OUT THERE.
WITH THIS MECHANISM, WE ARE ALSO
TRYING TO TARGET EXPANDING OUR
RESEARCH COMMUNITY BY OFFERING
DIFFERENT CATEGORIES AND WE HAVE
AN EARLY STAGE INVESTIGATOR
CATEGORY AND A INDIVIDUAL COMING
FROM ANOTHER FIELD FROM BESIDES
THE MUSCULAR DYSTROPHIES AND
BRINGING HIS OR HER SPECIFIC
DISCIPLINE, TALENTS AND TO APPLY
AND USE IN STUDYING DUCHENE
MUSCULAR DYSTROPHY.
O WE HAVE USED THOSE VARIOUS
OPTIONS.
AND WHEN WE REVIEWED THE
APPLICATIONS, WE REVIEWED AND
COMPARE IN THOSE STAGES.
WE DON'T HAVE IT COMPETED
AGAINST OUR MORE WELL
ESTABLISHED INVESTIGATORS.
OUR OTHER MECHANISM THAT WE ZOOS
A TRANSLATIONAL RESEARCH AWARD
AND THE TRA MECHANISM AND IT IS
USED TO ADDRESS ALL OF OUR OTHER
FOCUS AREAS AND THIS IS A
MECHANISM THAT AGAIN LOOKING FOR
MORE ADVANCED SORT OF
TRANSLATIONAL TYPE RESEARCH
PROJECTS AND ONE THING THAT WE
AGAIN ADDED JUST LAST YEAR,
AGAIN SUPPORTING BRINGING
RESEARCHERS INTO THE FIELD IS AN
EARLY CAREER PARTNERING P.I.
OPTION AND SO THAT ENCOURAGES
WITH PROVIDING EXTRA FUNDING TO
HAVE A COLLABORATING P.I.
PARTNERING P.I. THAT IS IN THE
EARLY STAGES OF THEIR CAREER
WITHIN 10 YEARS OF THEIR FIRST
FACULTY APPOINTMENT AND THAT
INDIVIDUAL THAT PARTNERING P.I.
PLAN WILL HAVE THEIR OWN AWARD
SO AGAIN THAT SUPPORTS TO THE
ESTABLISHING THEIR CAREER.
SO THE NEXT TWO SLIDES I WAS
GOING TO PRESENT JUST SOME BASIC
INFORMATION ABOUT SOME OF THE
PROJECTS THAT ARE CURRENTLY IN
OUR PORTFOLIO WITHIN THESE TWO
DIFFERENT AWARD CATEGORIES SO,
LOOKING AT EARLY STAGE RESEARCH
AND THIS IS THE I.D.A. MECHANISM
AND LOOKING AT NOVEL TREATMENT
STRATEGIES AND WE SEE WE HAVE
FOUR MAIN AREAS THAT WE HAVE
PROJECTS IN AT THIS POINT AND
OBVIOUSLY LOOKING AT LOOKING AT
GENE THERAPY WE HAVE 1 AWARDS
ADDRESSING VERY NOVEL AND THIS
CARGO SIZE LIMITATIONS WITH THE
VECTOR AND LIVER TOXICITY AND AS
WELL AS MUSCLE UPTAKE AND I HAVE
ONE EXAMPLE ON THE SLIDE THERE
THAT AN AWARD THAT IS USING A
NANO ENGINEERED EXOSOME FOR
DELIVERING OF DNA OR RNA
PROTEINS TO REPLENISH THE
MISSING DYSTROPHINE AND WE HAVE
AWARDS LOOKING AT GENE EDITING
TECHNIQUES THAT WOULD
PERMANENTLY CORRECT THE DISEASE
CAUSING MUTATIONS.
AND IN THIS CASE, WE SEE ONE
WHERE WE'RE USING A PIN POINT
EDITING SYSTEM WHERE THEY'RE IT
MODIFYING THE NUCLEOTIDE AND TO
STIPULATE THE HARBORING TO THE
DMD MUTATIONS AT THE DNA LEVEL
AND THE OTHER PROJECT IS
ACTUALLY USING OUR STUDY USI
USING -- ACTIVITY ON DOUBLE
STRANDED RNA TO CORRECT NONSENSE
MUTATIONS AND ALLOW TRANSLATION
AND SO EX ON SKIPPING CHALLENGES
HERE FALLEN TO LOW EFFICACY AND
SHORT HALF LIFE SO EFFORTS TO
INCREASE THE MUSCLE TROUPISM AND
WE HAVE PROJECTS WHICH ARE
LOOKING AT MODIFICATIONS OF THE
ANTI-(INAUDIBLE) AS WELL AS
OTHER PROJECTS THAT ARE LOOKING
AT USING IN COMBINATIONS WITH
NUCLEOTIDES TO INCREASE THEIR
EXPRESSION.
WHEN IT COMES TO SELL BASED
THERAPIES, WE HAVE SOME PROJECTS
LOOKING AT STUDYING AND
TARGETING MUSCLE STEM CELL
ACTIVATION OR MACROPHAGE
TARGETED NUCLEOTIDES AND WE HAVE
TWO AWARDS THAT ARE LOOKING TO
BOOST MUSTEL USING BY PIN ONE OR
BOOSTING MUSCLE STRENGTH WITH
EROCIN.
AND NOW JUST MOVE TO OUR OTHER
AWARD CATEGORY AND WHICH IS THE
TRANSLATIONAL RESEARCH AWARD AND
IT'S LOOKING AT PROJECTS AND
THREE MAIN AREAS THERE'S GETTING
CLINICAL READINESS AND CLINICAL
APPLICATIONS AND THEN FINALLYEL
CLINICAL BIOMARKERS AND WE HAVE
A NOVEL PROJECT VERY EXCITING
PROJECT THAT IS USING A NON
VIRAL GENE THERAPY PLATFORM AND
THAT FULL LENGTH WITHOUT USING
THE AAV SECTOR AND WE HAVE TWO
DIFFERENT PROJECTS THAT ARE
LOOKING AT ANY FIBROSIS ONE THAT
MANY OF OF YOU MAY BE FAMILIAR
WITH AND IS THE LTB4 AND
SUPPORTED SOME DEVELOPMENT OF
HUMANIZED ANTIBODIES TO LTBB4
AND IT'S PROVIDED SOME PROOF OF
CONCEPT WORK THAT IT IS
PROVIDING STRONG ANTI-FIBROSIS
EFFICACY AND THESE PRECLINICAL
STUDIES HAVE NOW SUPPORTED THE
INVESTIGATOR Dr. McNALLY
GETTING NIH FOLLOW ON FUNDING TO
CONTINUE THIS STUDY HERE IN
ORDER TO GET THIS ANTIBODY READY
FOR CLINICAL TRIALS.
WHEN IT IT COMES TO LOOKING AT
CLINICAL APPLICATIONS, WE HAVE A
STUDY THAT IS LOOKING AT
LOWERING THE STEROID TREATMENT
DOSE IN COMBINATION WITH
EXERCISE AND THAT IS BEEN SHOWN
TO SEE IMPROVED MUSCLE GROWTH
AND FUNCTION WITH NO OBVIOUS
SIDE EFFECTS AND WITH USING A
TWICE A WEEK REGIMENT OF
STEROIDS AND THEN ANOTHER TWO
OTHER STUDIES THAT ARE TESTING
USING REMOTE MONITORING FOR
MOTOR FUNCTION ASSESSMENT IN
PATIENTS WITH DMD.
AND FINALLY, AS WE'VE HEARD FROM
ALL OF OUR OTHER PRESENTERS,
THERE'S ALWAYS A NEED FOR
CLINICAL BIOMARKERS AND
PARTICULARLY FOR OUR CLINICAL
TRIALS AND MONITORING NOT SO WE
HAVE STUDY THAT IS USED BONE
MRIs AND A BIOMEDICAL MARKER
AND ANOTHER STUDY THAT IS
LOOKING AT CARDIA ARRHYTHMIA
RISK ANALYSIS WITH ECG AND MRI
AND THEN FINALLY, A EXOSOME RNA
THAT'S BEING CAPTURED FROM BLOOD
OR URINE IF PATIENTS WITH
DUCHENES AND USING IT AS A
BIOMEDICAL MARKER FOR EVALUATING
DISEASE SEVERITY AND TREATMENT
EFFICACY AFTER EX ON SKIPPING
TREATMENT.
SO THESE ARE JUST SAMPLING OF
SOME OF THE PROJECTS WE HAVE IN
THE PORTFOLIO AND I'M HAPPY TO
AT THIS POINT ANSWER ANY
SPECIFIC QUESTIONS YOU MAY HAVE.
OR JUST JOIN IN THE
CONVERSATION.
>>Diana Bianchi: THANK YOU,
VERY MUCH, MARIELENA.
IT WAS CERTAINLY NEWS TO ME THAT
THE CONGRESSIONALLY DIRECTED
MEDICAL RESEARCH PROGRAMS WERE
SO INVOLVED AND MOST OF THEIR
RESEARCH SO THIS WAS A VERY,
VERY HELPFUL PRESENTATION.
THE FLOOR IS OPEN NOW FOR
QUESTIONS.
GLEN.
>>Glen Nuckolls: THANK YOU FOR
A GREAT PRESENTATION.
SO, AS I RECALL, YOU KNOW, THE
BUDGET INCREASE IN THE PROGRAM
IN RECENT YEARS SO I'M CURIOUS
IF YOU LOOK BACK AT KIND OF THE
APPLICATIONS THAT WE RECEIVED
AND THOSE THAT WERE FUNDED, DID
THAT INCREASE IN BUDGET RESULT
IN KIND OF DEEPER INTO THE
TOPICS THAT YOU WERE ALREADY
WORKING ON OR DID IT RESULT IN
KIND OF A EXPANSION INTO
ADDITIONAL TOPICS?
>>I AM GOING TO SAY IT PROBABLY
A LITTLE BIT OF BOTH BUT
CERTAINLY BEING ABLE TO EXPAND
IN PART BECAUSE WE WERE REALLY
ABLE TO NOW FUND MORE PROJECTS
AND THAT WAS ALWAYS, YOU MAY
REMEMBER, WHEN YOU WERE SERVING
ON THE PROBLEMATIC PANEL, WE
OFTEN TIMES HAD A MUCH BIGGER
LIST OF PROJECTS WE WOULD LIKE
TO SUPPORT AND THEN THERE'S ONLY
SO MUCH MONEY AND I THINK IN
PARTICULAR, BEING ABLE TO START
FUNDING PROJECTS MUCH EARLIER
STAGE STILL TRANSLATIONAL FOCUS
THERAPEUTIC FOCUS BUT THERE'S
REALLY EARLY KNEW IDEAS THAT
SOMEONE HAS REALLY TRYING TO GET
MORE INNOVATION AND COMING UP
WELCOME BACK HOW DO WE GET
AROUND THE KNOWN PROBLEMS WHERE
WE'RE SEEING NOW WITH THE
VARIOUS TYPES OF TREATMENT THAT
WE REALLY WERE NOT WORKING IN
THAT SPACE AT ALL.
WE'RE JUST GOING TO END OUR WITH
THE INCREASED FUNDING THE NUMBER
OF AWARDS THAT ACTUALLY HALF THE
AWARDS IN THE PORTFOLIO ARE WITH
THESE IDA AWARDS AND THEY'RE
SHORT AND THEY'RE TWO YEAR AWARD
MECHANISM AND MANY OF THE
PROJECTS ARE SHOWING PROMISING
IN THAT YOU KNOW, GETTING SOME
PUBLICATIONS IN AND I THINK
PARTICULARLY THEY'RE ABLE TO
ACTUALLY GET FOLLOW ON FUNDING
MUCH TIMES FROM THE NHL TO
CONTINUE THOSE PROJECTS THAT ARE
SHOWING PROMISE WHICH IS REALLY
WHAT WE HOPE TO DO.
IT'S LIKE OKAY, GET A GOOD IDEA
STARTED AND THEN HOPEFULLY THE
INVESTORS ARE ABLE TO CONTINUE
BY GETTING FUNDING FROM OTHER
AGENCIES TOO CONTINUE A
PROMISING PROJECT.
>>Glen Nuckolls: THANK YOU.
>>I HAVE A QUESTION.
>>THANK YOU FOR THE
CLARIFICATIONS ON YOUR
CONGRESSIONAL DIRECTION AND
FUTURE.
THANK YOU FOR THE EXCELLENT
PRESENTATION.
MY QUESTION IS, ALLOWING
DISEASES MYOTONIC, DUCHENE,
THEY'RE ALL STRUGGLING WITH THE
SAME ACCESS WITH THE SAME
ISSUES, LIKE TOXICITY, FAILURE
OF CLINICAL TRIALS AND THE
STROKE AND DU DUCHENE AND THE
MYOTONIC AREA.
THE QUESTION IS ARE THESE
CONCLUDED OTHER AND EVEN THOUGH
YOU ARE WORKING ON DUCHENE, AND
ARE THERE LOOKING AT MYOTONIC IN
THE CONTEXT OF DUCHENE OR IS
THAT A POSSIBILITY?
CAN WE LEARN THINGS?
SOME BIOMARKERS RATHER THAN
WORKING IN SILENCE AND AT THIS
POINT TO CONGRESS AND PROGRAM
COULD HAVE THE TRIAL THAT DOES
INCLUDE DUCHENE AND OTHER
MYOTONIC AND WHAT IT NOW.
>>THANK YOU, DA, FOR ME THE
QUESTION.
YOU NOTED, THAT WE ARE, EACH OF
OUR PROGRAMS DO HAVE A MANDATE
OR DIRECTION INTENT AND THAT IS
PROVIDED AND THAT AND COULD SHOW
AND COM ANALITY BETWEEN DISEASES
AND THAT IS WORTH VALUE OF
STUDIES AND AS LONG AS THE
PROJECT DOES INCLUDE AND IT HAS
SIGNIFICANT FOCUS IN DUCHENE IT
SHOULD BE CONSIDERED FOR THIS
PROGRAM AND I DO KNOW THAT FOR
EXAMPLE, IT WAS MENTIONED
PREVIOUSLY WITH THE MYOTONIC
ORGANIZATION THAT WE HAVE
ANOTHER RESEARCH PROGRAM PER
REVIEW MEDICAL IT'S A MULTI
TOPIC PROGRAM AND MY DYSTROPHY
IS A TOPIC AND THAT PROGRAM AND
WE DO TAKE A LOOK AND THEY DO
GET FUNDING, THEY DO HAVE A
GRANTS AWARDED USUALLY EVERY
YEAR AT LEAST ONE OR TWO GRANTS
ARE BEING AWARDED AND THERE WAS
A TOPIC A COUPLE YEARS AGO WAS
FOCUSED ON CARDIO MY ON AGENT' O
THERE IS THE ABILITY TO
POTENTIALLY LOOK AT OTHER
MUSCULAR DYSTROPHIES BEFORE THE
DUCHENNE PROGRAM AND THERE NEEDS
TO BE A STRONG PRO PHONE NOT IN
THE STUDY THAT WILL ON THE
MUSCULAR DYSTROPHY FOR IT TO BE
CONSIDERED AND AGAIN IT'S TIED
IN WITH THE CONGRESSIONAL INTENT
THAT GOES WITH EVERY SINGLE
PROGRAM.
>>FOLLOWING UP ON COMMENTS FROM
DAN, I THINK IT'S AN INTERESTING
POINT.
BECAUSE, MUCH OF FUNDING AND
RESEARCHERS FOCUSED ON DISEASE
AREAS AND IT IT'S VERY
INTERESTING TO LOOK ACROSS THE
MUSQUEAM AND IT STRIKES ME THAT
THE EXPERTISE IN THE FIELD OF
THE INVESTIGATOR STUDY IN
DISEASES IT'S REALLY DICTATED BY
THE UNDERLINING MOLECULAR
DISEASE AND IT HAS HARD RNA
PROCESSING EXPERTISE AND THE
FHSA FIELD HAS EXPERTISE AND THE
DUCHENE FIELD HAS STRONG
MEMBRANE BIOLOGY AND OTHER
RELATED AREAS AND THE
TECHNOLOGIES AND TOOLS THAT ARE
REQUIRED TO DEVELOP TREATMENTS
ARE MUCH MORE FUNDAMENTAL OFTEN
AND THEY CROSS DISEASE AREAS AND
SO IT'S SORT OF A BIGGER
CONVERSATION ABOUT HOW TO
FACILITATE THAT.
I MEAN, IT'S A WAY TO THINK
ABOUT HOW TO SUPPORT RESEARCH
AND I DON'T KNOW WHAT THE ANSWER
TO THAT IS S YOU NEED TO DO BOTH
OBVIOUSLY BUT I THINK IT'S
REALLY IMPORTANT POINT.
>>DO YOU WANT TO COMMENT ON
THAT?
>>I THINK WHAT I WOULD SAY TO
SOMETHING LIKE THAT AS YOU POINT
THE OUT, THE RESEARCH TECHNIQUES
OR DISCIPLINES THAT ARE NEEDED
COME FROM DIFFERENT DISEASE
AREAS IN THIS CASE AND THAT IS
IN PART WHEN WE, I WOULD SAY,
THIS PAST YEAR WHEN WE OFFERED
AND WE'VE ALSO TRIED IN PREVIOUS
YEARS A WHAT WE'RE CALLING OUR
TRANSITIONING INVESTIGATORS TO
ENCOURAGE AND TRY TO BRING INTO
THE RESEARCH PROGRAMS
INVESTIGATORS FROM OTHER
DISCIPLINES THAT HAVE NOT
TRADITIONALLY WORKING ON DUCHENE
BUT BRING THAT EXPERTISE AND
CONSIDER AND BRING THEIR
EXPERTISE TO STUDY DUCHENES
QUESTION CHALLENGE AND WHAT NOT
SO THAT'S WHAT WE HAVE BEEN
TRYING TO DO WITH THE PAST BY
OFFERING A MULTI-DISCIPLINARY
PARTNERSHIP AND THIS
TRANSITIONING INVESTIGATOR AND I
WOULD SAY WE WERE ACTUALLY
RATHER SUCCESSFUL WITH THIS
TRANSITIONING INVESTIGATOR AND I
CAN'T SAY A LOT MORE ABOUT IT
BECAUSE WE HAVEN'T RELEASED OUR
AWARDEES YET FOR FY '22 AND THEY
WILL BE COMING OUT SHORTLY AND
WHAT I CAN SAY IS WE HAD SOME
SUCCESS AND THAT AREA.
>>IF I CAN ADD TO ERIC'S POINT,
THAT I KNOW, I MEAN, OTHER NIH
AGENCIES HAVE SOME FORMS THAT
ARE ESPECIALLY FOR THAT TO TO
CREATE TOOLS THAT CAN BE USED
FOR DIFFERENT, IN THIS CASE,
DYSTROPHIES LIKE THE IS PART OF
THE AND THINGS LIKE THAT.
IN OUR PATIENT ADVOCACY
ORGANIZATION WE'VE BEEN TALKING
FOR A FEW YEARS NOW ABOUT HOW TO
INCREASE THE NUMBER OF THIS TYPE
OF PLATFORMS BECAUSE AS HE SAID
AS I MENTIONED, MANY OF THE
TOOLS WILL BE AS IMPORTANT OR
MORE THAN NOT THE MECHANISMS.
SO IT'S SOMETHING MAYBE TO
DISCUSS IN THE PLAN FOR 2025.
HOW TO ACCESS OR HOW TO CREATE
MORE OF THESE PLATFORMS.
DISEASE TECHNOLOGIES BECAUSE OF
IT'S A DISEASE DIAGNOSTIC THAT
WE HAVE TO WORK TOGETHER AGAIN
AND JUST EXACTLY AND THE MEETING
DISEASE CONTEXT AND ONE COULD
GAIN AN IN SIGHT THAT AND THEN
VICE VESA AND SO, I JUST SAW THE
DEFINITION AND SO THANKS.
>>I DEFINITELY HEARD SOME
SIMILAR THEMES ACROSS THE THREE
PRESENTATIONS TODAY.
SO, ONE THING TO CONSIDER WHEN
THE STRATEGIC PLAN IS BEING
WORKED ON IS WHETHER YOU WANT TO
DEVELOP CROSS CUTTING THEMES
JUST FOR EXAMPLE BY OWE MARKERS
AND THE NEED FOR BIOMARKERS
MIGHT BE A CROSS CUTTING THEME
FOR AWFUL THE CONDITIONS BEING
STUDIED AND IT'S SOMETHING TO
CONSIDER.
SO, AS WE MENTIONED BEFORE, WE
PLAN TO CONTINUE THIS SESSION --
WALTER.
DID YOU WANT TO ADD SOMETHING?
>>JUST NOTE THE PLATFORMS DAN
WAS TALKING ABOUT IS SOMETHING
IT KEEP OUR EYE ON IS CALLED THE
BEE SPOKE GENE THERAPY PROGRAM
AND IT'S AN ACCELERATED MEDICINE
PARTNERSHIP WITH INDUSTRY AND
NIH FOLKS WHO IS ACTUALLY PETER
MARKS IS ONE OF THE INSTIGATORS
AND IT'S ACTUALLY TO BUILD A
GENE THERAPY PLATFORM WHERE THE
FDA WOULD LIKE IS TO SEE SOME
TYPE O OF THAT A PLATFORM IS SAE
AND THE VECTOR AND AV THAT
THEY'RE DEALING WITH YOU CAN
JUST PLUG IN DIFFERENT GENE AND
THE PATHWAY TO APPROVAL WOULD
THEN BE MUCH MORE STREAM LINED
SO THAT IS CURRENTLY UNDERWAY
AND COUPLE PILOT PROJECTS AND IF
IT WORKS, THEN IT COULD BE
USEFUL TO MANY DIFFERENT RARE
DISEASES.
I'LL PUT THE LINK IN THE CHAT.
>>Diana Bianchi: THANK YOU,
WALTER.
>>THERE A SIMILAR PROGRAM WHERE
REBUILDING MUSCLE?
THE GENE THERAPY IN THERE AND
THEY HAVE ACCESS TO GENE
THERAPY?
REMAIN VERY NEUTRAL AND
CONSIDERING HOW TO REGENERATE
AND RECREATE, GROW MUSCLE CELLS?
DO YOU HAVE SIMILAR PROGRAMS IN
THAT DIRECTION AS WELL NOT JUST
GENE THERAPY?
THE CELL THERAPY AND
REGENERATIVE MEDICINE?
>>I GUESS THERE IS A
REGENERATIVE MEDICINE PROGRAM IT
WAS RUN OUT OF NHLBI AND I DON'T
KNOW IF IT WAS TRANSITIONING.
THEY HAD CALLS FOR DIFFERENT
CELL THERAPY AND THEY FUNDED A
COUPLE AND AGAIN THEY WERE
LOOKING TO KIND OF STREAMLINE
THINGS AND WITH THE FDA TO MOVE
CELL THERAPY MOVE THROUGH
QUICKLY AND I HAVE NOT BEEN
INVOLVED IN THOSE.
I CAN TRY AND FIND THAT LINK AND
PUT IT IN THE CHAT AS WELL.
IT'S MUCH SMALLER PROGRAM AND
IT'S BEEN GOING ON FOR AT LEAST
FIVE YEARS NOW I THINK.
>>IF I COULD JUST ADD AN FINAL
ANALOGY TO BRING THIS HOME AND
MAYBE EVERYBODY GETS IT.
AN IMAGE CAME TO MIND WHEN WE
WERE TALKING ABOUT THIS.
WHEN WE'RE TRYING TO CURE A
CERTAIN DISEASE OR PROVIDE
TREATMENTS IT'S LIKE YOU NEED TO
COOK DINNER.
YOU NEED TO GET ALL THE
INGREDIENTS TOGETHER AND THERE'S
A LOT OF DIFFERENT WAYS TO DO
IT.
SO IT'S VERY POPULAR TO GET ALL
INGREDIENTS IN A GROUP SHIPPED
TO YOUR HOUSE IF YOU ARE BUSY OR
GO TO THE GROCERY STORE AND IN
THE GROCERY STORE, EVERYTHING IS
KIND OF ORGANIZED BY CATEGORY
AND YOU HAVE SOMETHING IN
BETWEEN LIKE IF YOU LIVE IN
EUROPE YOU GO TO THE MARKET AND
YOU CAN PICK UP EVERYTHING AND
IT'S A HYBRID.
IT'S A KIT OR YOU HAVE TO DO
EVERYTHING AND SO, CHANCES THAT
YOU ARE THE BEST AT SAY LIKE
WASHING A HEAD OF LETTUCE OR
FINDING GOOD WAY TO SCALE A
SPECIFIC INGREDIENT IF IF YOU
ARE DOING EVERYTHING ELSE IT'S
NOT THE BEST.
IT DOESN'T MAKE FOR A EASY STORY
TO TELL OR A WAY TO SAY
SOMETHING VERY EXCITING BUT I
THINK THAT WAY OF THINKING GO
PLATFORMS AND TOOLS IS VALUABLE
BECAUSE IT'S REALLY FOCUSING
DIRECTLY ON THE THINGS THAT
WE'LL PUT TOGETHER LATER.
>>IT SEEMS IT WOK MORE
ATTRACTIVE FOR SOME PHARMA
COMPANIES TOO.
THEY COULD -- IF THEY HAVE THIS
PLATFORMS THAT THEY COULD ATTACK
OUREL WORK ON MORE DISEASES AND
MORE CHANCE TO SUCCEED IN IN
SOME OF THEM AT LEAST.
>>WOULD AGREE.
I THINK SYMPTOMS ARE MISSING.
THEY'RE MISSING INFORMATION.
WE NEED OF BETTER DATA AND
BETTER INFORMATION OR BETTER NEW
INSIGHTS ON THE SYSTEM AND THE
BIOMEDICAL RESEARCH AND OR MORE
NEEDS TO BE DONE WITH MORE
COMMON IN THE SITUATION WITH THE
EXCELLENT COMMENTS.
>>Diana Bianchi: OKAY.
AGAIN, AS WE MENTIONED EARLIER,
WE PLAN TO CONTINUE THIS SESSION
FOR OUR FALL MEETING.
AND WE'D LIKE TO INCLUDE OTHER
MUSCULAR DYSTROPHY PATIENT
ADVOCACY ORGANIZATIONS WHO WISH
TO PRESENT.
PLEASE CONTACT GLEN IN YOUR
ORGANIZATION HAS A MUSCULAR
DYSTROPHY SPECIFIC PLAN THAT
DEFINES GOALS AND OCTAVES FOR
RESEARCH OR PATIENT ACCESS TO
CARE OR SERVICES.
A LITTLE BIT TIME AT END OF THE
AGENDA TO TALK ABOUT HOW THIS
NEW 2025MDCC ACTION PLAN CAN
BUILD UPON AND INTEGRATE THE
STRATEGIC PLANS WE'VE HEARD
ABOUT.
WE DISCUSSED IT A LITTLE BIT.
BEFORE WE GO THERE FOR FINAL
COMMENTS, I DID WANT TO
ACKNOWLEDGE A COMMENT FROM JUNE
WHO HAD WRITTEN EARLIER ABOUT AN
OUR AGO, THAT LACK OF INSURANCE
REIMBURSEMENT FOR GENETIC
COUNSELING AND GENETIC TESTING
IS A MAJOR ISSUE.
CAN THE MDCC SUGGEST ACTIONS ON
THIS ISSUE AND I AM A MEDICAL
GENETIC SIS AND I AGREE WHOLE
HEARDEDLY, ONE OF THE THINGS I
DID NOT FIND APPEALING ABOUT
GENETICS IS THE AMOUNT OF TIME
WE HAD TO SPEND TO GET
PRE-APPROVAL FOR GENETIC
TESTING.
>>THIS IS A COMPLICATED COMMENT
BECAUSE OFTEN TIMES INSURANCE
AND IT VARIES, YOU KNOW, THERE
ARE DIFFERENT KINDS OF INSURANCE
MEDICARE AND MARKETPLACE AND
MEDICAID AND ALL INSURERS ARE
PRETTY MUCH REQUIRED TO DO TESTS
THAT ARE IN THE U.S.
PREVENTATIVE TASK FORCE LIST BUT
AS YOU KNOW THAT'S NOT MOST
GENETIC SCREENING AND MOST
INSURERS WILL COVER THINGS THAT
ARE NECESSARY FOR THE DIAGNOSIS
AND TREATMENT OF A CONDITION SO
THAT CAN COME UP IN THE CASE OF
DIAGNOSIS OF SOMETHING BUT STILL
CAN BE A CHALLENGE TO GET IT
APPROVED.
SOMEONE THINKS THEY MIGHT
HAVE -- THERE WILL BE CRITERIA
FOR CYSTIC FIBROSIS OR I ASSUME
MUSCULAR DYSTROPHY, NOT DETAILED
THERE.
I THINK THE PLACES TO WORK ON IT
ARE THINKING ABOUT THE FUTURE
AND FOR PEDIATRIC AND SCREENING
AND A BIGGER LIFT I THINK AND SO
THAT IS KIND OF WHAT I HAVE TO
OFFER THAT IS SOMETHING THAT
COULD BE KIND OF PUT ON THE
RADAR IN AN ACTION PLAN.
BUT IT IS A LONG-TERM RADAR TYPE
OF THING.
>>THANK YOU FOR THAT COMMENT.
THE HOPE IS THAT SOME DAY, YOU
KNOW, ALL NEWBORNS WILL BE
SEQUENCED AND SO THE STATES WILL
PAY FOR THAT AND THEN THAT WILL
ALLOW US TO KNOW WHAT TO EXPECT
IN THOSE INFANTS.
I MEAN IT'S ONE OF THE --
>>AND THEY WON'T BE
DISCRIMINATED ON THE BASIS OF
WHAT THE SEQUENCES SHOW AND I
KNOW WE HAVE SOME FEDERAL
PROTECTIONS AGAINST THAT BUT I
KNOW SOME PEOPLE AVOID THEIR
INSURANCE COMPANIES FOR
SCREENING BECAUSE THEY DON'T
WANT THAT.
OF THE ACT PROVIDES THAT
PROTECTION.
>>Diana Bianchi: THAT'S BEEN
AROUND FOR A LONG TIME.
PRESIDENT BUSH, THE YOUNGER
PRESIDENT BUSH SIGNED THAT LAW
AND YOU REALLY SHOULDN'T BE
DISCRIMINATED AGAINST BUT I
THINK PART OF IT MANY PHYSICIANS
DON'T HAVE GENETIC EDUCATION OR
THE INSURANCE COMPANY DON'T
UNDERSTAND THE POTENTIAL FOR THE
DIAGNOSTIC ODYSSEY AND IN THE
END OF IT IMPORTANTLY PROVIDE
BETTER PATIENT CARE AND MORE
TARGETED THERAPY BUT IT SAVES
MONEY AND IT'S BEEN WELL
DEMONSTRATED IT SAVES MONEY.
>>THE BEST CASE IS WHEN THERE'S
A DIAGNOSTIC ODYSSEY GOING ON
AND IT'S HARD TO WORK THE
INSURANCE COMPANIES PROCESS OF
APPEALS AND CONSIDERATIONS AND
THE LIKE AND MEDICARE WE HAVE A
GOOD POINT HOW FAR THEY DON'T
COVER LIFE INSURANCE AND
DISABILITY INSURANCE BUT YOU
KNOW WE DO HAVE SOME ADJUSTMENTS
THAT WE'RE BEING DONE THAT ABOUT
PRIOR AUTHORIZATION AND WE'LL
SEE HOW THOSE HELP BOTH IN THE
MEDICARE VANTAGE ROLE WHICH IS
FOR MEDICARE AND ALSO IN THE THE
POINT OF ASKING BETTER SCIENCE
FOR THOSE PRIOR AUTHORIZATION
AND TRANSPARENCY AND THOSE PRIOR
AUTHORIZATION RULES AND
PROCESSES.
IT'S A LONG HALL.
>>JUST A COMMENT.
I THINK WE'RE MISSING SOME
IMPORTANT WE NEED OUR POSITION.
FIRSTLY, WE CAN CREATE BETTER
DIAGNOSTIC TALKS WITHOUT THE
ADJUSTED OR'S YEAR TO USE AND
THE GENETIC LANDSCAPE DRIVERS
THE CLINICAL PROCESS SO WE
REALLY NEED TO GET A HANDLE ON
THE GENETIC COMPLEXION OF
ESPECIALLY WITH DISEASE LIKE
ALZHEIMER'S WHERE YOU HAVE A LOT
OF ACTIVE DISEASE TRIALS GOING
ON EARLIER AND UNSEEN AND OUT OF
SIGHT AND THEN YOU ALSO HAVE
GENETIC SITUATIONS OF THE
DISEASE.
IT'S IN AND OUT SYSTEMS AND
BASED ON A SO IT'S A DISEASE
LIKE FSH WHERE THEY CLAIM IT AND
YOU ARE MISSING THE POINT.
IN THE BODY I WANT TO KNOW IT
AND THIS IS A VERY DYNAMIC WE
REALLY HAVE TO WAKE UP.
AND AND TRUSTING AND THE AND
WITHOUT AND WE HE HAVE TO WAKE
UP.
>>I THINK ANOTHER MODEL THAT IS
NOT A SHORT TERM MODEL IS YOU
KNOW, THE BREAST CANCER GENETIC
TESTING IS PART OF THE U.S.
PREVENTATIVE SERVICES TASK FORCE
LIST OF ITEMS THAT BY-LAW
THERE'S SOME CHALLENGES TO IT
BUT SOME LEGAL CHALLENGES ARE
GOING ON NOW BUT BY-LAW THOSE
NEED TO BE COVERED BITCH PLANS
NOT AND IN OF THE TESTING, YOU
KNOW, THE SCIENCE COULD SUPPORT
CONCEIVABLY THE TESTING FOR
PEOPLE WITH A FAMILY HISTORY SAY
IN THAT KIND OF A MODEL SO
THAT'S ANOTHER THING TO PURSUE.
IT US DIDN'T HAPPEN QUICKLY BUT
IT IS SOMETHING SOMETHING WORTH
PURSUING.
AGAIN, THOSE THINGS DRIVE HOW
INSURANCE COMPANY AND CMS COVER
THINGS.
>>Diana Bianchi: SO THERE ARE A
COUPLE OF COMMENTS UNTIL THE
CHAT BOX AND A LOT OF REACTIONS
SOMETHING DONOVAN DECKER
MENTIONED SO I'M GOING TO HANDLE
THAT.
LET ME READ WHAT DONOVAN'S OTHER
COMMENT IS IF I GO BACK.
I SAYS, WHAT CAN BE DONE WHEN A
LARGE COMPANY BUYS THE RESEARCH
IN YOUR DISEASE AND THEN THEY
DON'T DO ANYTHING WITH IT?
WE, THE PATIENTS, SUFFER.
AND THEN GUSTAVO ASKED FOR A
SPECIFIC EXAMPLE AND ERIC, DO
YOU WANT TO COME OFF MUTE AND
MAYBE REPEAT YOUR ANSWER TO
THEM.
>>CORRECT ME IF I'VE WRONG BUT
YOU ARE REFERRING TO INSTANCES
WHERE COMPANY LICENSE IP FROM AN
INCONVENIENT ERIN INVESTIGATOR
THAT IS AIMED AT TREATING
DISEASE BUT THE COMPANY FOR A
VARIETY OF REASONS MIGHT NOT
MOVE FORWARD WITH IT AND MIGHT
NOT MOVE FORWARD QUICKLY WITH IT
AND USUALLY THERE ARE TIME LINES
AND DILIGENCE MILESTONES WITH
THE LICENSES BUT IT DEFINITELY
CAN DELAY PROGRESS EX PREVENT
OTHERS FROM WANT TO GO GET INTO
THE SPACE BECAUSE THEY CAN'T BE
PROTECTED SO IT'S AN ISSUE AND
THIS IS AN INSTANCE IN WHICH
LIKE IN THE PAST THERE'S
LEGISLATION TO HE HE CAN SELL E
MOVEMENT INTO THE PRIVATE SECTOR
WHERE NIH CAN HAVE AN IMPACT.
>>YEAH.
THERE SHOULD BE TWO PARALLEL
CONVERSATIONS GOING ON SO ONE IS
RELATED TO THE INTELLECTUAL
PROPERTY AND HOW IT ADVANCES OR
PUTS A BARRIER IN FRONT OF
ADVANCING TO TREATMENT AND
THERE'S A PARALLEL CONVERSATION
GOING ON RELATED TO THE GENETIC
COUNSELING AND AT T TESTING
REIMBURSEMENT SO JUNE WRITES IT
WOULD BE HELPFUL IF THE NDCC
COULD PROVIDE A CONSENSUS ACTION
THAT WE CAN ALL GET BEHIND
WITHOUT A CLEAR CALL TO ACTION
IT'S HARD TO ACT.
FROM THE NIH PERSPECTIVE, WE CAN
FUND RESEARCH THAT PROVIDES
EVIDENCE.
TYPICALLY, A PROFESSIONAL
RECOMMENDATION FOR CARE COMES
FROM PROFESSIONAL SOCIETY SO I
MEAN, I THINK IT COULD GO ON THE
AGENDA FOR DISCUSSIONS DURING
THE STRATEGIC PLANNING BUT I
DON'T THINK THAT THE MDCC -- I
MEAN, WE CAN DISCUSS WHAT OUR
SWIM LANES ARE IN TERMS OF HOW
FAR FAR WE CAN GET INTO MAKING
ACTUAL RECOMMENDATIONS FOR
PATIENT CARE?
WHAT ARE THE CONDITIONS THAT
WOULD MANDATE TESTING AND BE
REPORTED AS A SECONDARY FINDING.
WE HAVE A LITTLE -- THERE'S
ANOTHER COMMENT AND THERE'S NO
CURE.
THIS IS WHAT I WAS GETTING AT
WHERE THERE'S AN EDUCATION GAP.
MANY PHYSICIANS ARE LACKING
INFORMATION ABOUT REGISTRIES AND
CLINICAL STUDIES AND EXISTING
TREATMENTS FOR CONDITIONS LIKE
POMPEII AND SPINAL MUSCULAR
ASTRO FEE.
IT'S UP TO THE PATIENT TO PUSH
TO GET THE TESTING, WELL, YEAH,
BUT SORRY, OKAY.
ANDREA KLEIN, THANK YOU.
PATIENTS NEED TO ADVOCATE FOR
THEMSELVES.
IT'S NOT EASY.
LIKE I SAID, HAVING BEEN IN THE
PRACTICE OF PROVIDING AND WE'VE
HAD THE TECHNOLOGY FOR A LONG
TIME AND IT'S A SHAME THAT IT
HASN'T BECOME EASIER TO GET THE
TESTING.
>>I DON'T KNOW IF THAT'S IN
MARITMDCCSWIM LANE BUT EFFORTS E
SURE THAT CLINICAL PARTNERS KIND
OF UNDERSTAND SORT OF WHERE WE
ARE WITH THE CONDITION BECAUSE
THIS KIND OF QUICKLY EVOLVING
AND 15 YEARS AGO, THAT WAS A
TRUE STATEMENT AND I THINK, BUT
NOW IT'S NOT BUT IT MAY NOT BE
SOMETHING THAT IS DIFFUSED INTO
THE COMMUNITY AND IT'S NOT
TAKING CARE OF MUSCULAR
DYSTROPHY.
SO THAT COULD BE IT.
>>MY GUESS IS THAT, YOU KNOW,
ONE OF THE WAYS YOU COULD GET
AROUND IT IS THAT YOU INSTEAD OF
SAYING EVERY PATIENT WITH A
MUSCULAR DYSTROPHY SHOULD HAVE
GENETIC TESTING, WE COULD
RECOMMEND AFTER EXISTING
LITERATURE AND EXAM WHAT IS TO
COME BUT SAY SOMETHING TO THE
EFFECT OF KNOWING A PATIENT'S
SPECIFIC MUTATIONS MAY HELP TO
GUIDE THERAPIES OR COUNSELING
AND OR PROGNOSIS SO YOU ARE NOT
COMING OUT AND SAYING YOU HAVE
TO HAVE GENETIC TESTING BUT IF
YOU KNOW THE GENETIC TESTING YOU
ARE IMPLYING IT'S IMPROVING THE
CARE FOR THE PATIENT.
>>THAT'S IMPORTANT WITHEN
TENSION AND IT'S ALSO GOING TO
DICTATE THE DIRECTION OF
WHATEVER RESEARCH AS WELL AND
IT'S NOT JUST A DECISION IT'S
ALSO PRE DOM I AM APTLY WORKING
ON THIS KIND OF DIRECT CONSTRUCT
AND RESEARCH STRUCTURE AS WELL.
>>Diana Bianchi: YEAH, SINCE
THERE ARE SUCH FUNDAMENTAL
DIFFERENT MECHANISMS IN THE
CONDITIONS THAT WE'VE BEEN
DISCUSSING, I MEAN IT MAY BE
IMPORTANT TO INCLUDE, AS PART OF
THE STRATEGIC PLAN, THAT AGAIN,
IMPLYING IF YOU DO THE TESTING
AND YOU KNOW THE MUTATION OR YOU
KNOW THE UNDERLYING MECHANISMS
THAT IS GOING TO RESULT IN MUCH
MORE PRECISE THERAPIES SO REALLY
TAKING A PRECISION MEDICINE
APPROACH.
WALTER IS ASKING IS THERE A
CLEANED GENE PANEL AND HE MEANS
AN N FDA CLEARED PANEL?
I CAN'T ANSWER THAT BECAUSE I
HAVEN'T PRACTICED GENETICS IN
THE LAST SIX OR SEVEN YEARS SO
THERE MAY BE.
>>WHAT IS REFERRED DEFINITION?
>>Diana Bianchi: YEAH, SO YOU
KNOW, I THINK WALTER NOWADAYS
IT'S ALMOST MORE -- IT'S LESS
EXPENSIVE BECAUSE OF YOUR FIRST
PANEL COMES OUT NEGATIVE THEN
YOU END UP LOOKING AT OTHER
PANELS.
IT MAY BE EITHER NOW OR SOON
THAT PEOPLE ARE GOING TO GO
DIRECTLY TO EITHER A WHOLE EX ON
OR A WHOLE GENOME IT'S LOOKING
AT REPEAT LINKS AND SO IT'S NOT
AND FSHD.
THERE ARE DIFFERENT TESTS FOR
DIFFERENT DYSTROPHIES IT US
DIDMENT ALL NICELY FIT ON ONE
PANEL.
>>RIGHT.
BUT PRESUMABLY YOU WOULD HAVE
SOME CLINICAL SUSPICION THAT
MIGHT DIRECT YOU IN THE
DIRECTION THAT YOU WOULD LIKE TO
GO?
I THINK BECAUSE THERE'SES A LOT
OF INTEREST IN GENETICS AND
UNDERLYING MECHANISMS WE NEED TE
MECHANISMS THEME WASN'T IT,
GLEN, IN THE PROPOSED STRATEGIC
PLAN SO --
>>Glen Nuckolls: YEAH.
>>Diana Bianchi: MAYBE THAT'S
WHERE GENETICS SHOULD BE
INCLUDED.
>>Glen Nuckolls: SO THERE'S
ALSO A COMMENT FROM THERESA SAN
AGO STEEN CONSIDERED TO ADD
STRATEGY BEYOND MEDICAL STRATEGY
SUCH AS SCHOOL LIVING,
INDEPENDENTLY AND GAINFUL
EMPLOYMENT AND THERESA WAS
INVOLVED IN THE 2015 ACTION PLAN
THAT HAS OBJECTIVES ON
TRANSITION TO -- FROM SCHOOL
INTO THE WORKFORCE INDEPENDENT
LIVING, YOU KNOW, SO I THINK
THAT THESE WILL CONTINUE TO BE
IMPORTANT TOPICS FOR THE 2015
RENEWAL.
>>Diana Bianchi: WELL, WOULDN'T
THAT GO UNDER THE QUALITY OF
LIFE?
>>Glen Nuckolls: YEAH.
>>Diana Bianchi: THEME.
>>Glen Nuckolls: RIGHT.
>>Diana Bianchi: OKAY.
>>Glen Nuckolls: SO, IF I COULD
TAKE A MINUTE AND COMMENT THAT I
THINK WITH THE REALLY GREAT
TALKS THAT WE'VE HEARD THIS
AFTERNOON, IT'S CLEAR THAT THERE
ARE VERY STRONG EFFORTS IN
VARIOUS DIFFERENT MUSCULAR
DYSTROPHIES TO REACH OUT TO
EXPERTS AND IDENTIFY GAPS AND
OPPORTUNITIES.
IN THE RENEWAL OF THE ACTION
PLAN, FIRST OF ALL, THE PEOPLE
THAT WE WOULD GET TO PARTICIPATE
IN THAT ARE PROBABLY THE SAME
PEOPLE THAT ARE ALREADY
PARTICIPATING IN
DISEASE-SPECIFIC GAPS AND
OPPORTUNITIES IDENTIFICATION AND
THAT WE'RE NOT GOING TO FIND NEW
GAPS AND OPPORTUNITIES FOR
INDIVIDUAL DISEASES AND SO WHERE
WE REALLY DO NEED TO BE FOCUSING
THE EFFORT OF THE RENEWAL OF THE
ACTION PLAN, IS THAT CROSS
CUTTING ASPECT AND IT'S WHAT ARE
THE ABOVE LEVEL GAPS AND
OPPORTUNITIES THAT WOULD HAVE
THE MOST EFFECT ON PULL POLL
DYSTROPHIES.
WE HAVE WORKING GROUPS AND WHO
HAVE ALREADY CONTRIBUTED TO
STRATEGIC PLANS FOR INDIVIDUAL
TYPES AND IT CAN CUT ACROSS TO
ANOTHER TYPE OF DYSTROPHY.
>>Diana Bianchi: YEAH, I
DEFINITELY AGREE.
WE USE THE CONCEPT IN OUR NICHD
STRATEGIC PLAN OF THE WEST SO
THERE WERE CERTAIN SCIENTIFIC
THINGS AND THE CROSS CUTTING
THINGS AS IF YOU WERE WEAVING A
PIECE OF FABRIC.
IT MIGHT BE HELPFUL TOO TO CROSS
FERTILIZE AND PUTTING THEM ON A
DIFFERENT GROUP SO THEY CAN BE
THINKING ABOUT WHAT IS THE SAME
AND WHAT IS DIFFERENT FOR THIS
OTHER MUSCULAR DYSTROPHY THEY'RE
NOT A SUBJECT MATTER EXPERT.
WE'RE GETTING NEAR 5:00 WHICH IS
A GREAT OPPORTUNITY FOR PEOPLE
TO SPEAK UP IF THERE'S ANYTHING
ELSE THAT THEY WOULD LIKE TO
ADD.
I THINK IT'S BEEN VERY
INTERESTING AND ENGAGING
MEETING.
I'M VERY EXCITING ABOUT
PARTICIPATING IN THE NEW
STRATEGIC PLAN AND REALLY
REFRESHING GOALS AND THE
OBJECTIVES AND REALLY
INCORPORATING THEM AND THE
SCIENCE THAT HAS ADVANCED IN THE
LAST 10 YEARS AND MAKING
PREDICTIONS ABOUT WHERE WE WOULD
BE IN 2035 AND IS IS HE THIS A
GREAT START TO THAT DISCUSSION
AND WE'RE GOING TO BALANCE
WHATEVER SOCIETIES THAT HAVE
ALSO DONE SOME STRATEGIC
PLANNING WITH AGAIN THE
DISCUSSION OF WHETHER TO INCLUDE
NEWBORN SCREENING FOR DUCHENE
MUSCULAR DYSTROPHIES AS PART OF
THE RECOMMENDED UNIFORM
SCREENING PANELS SO WE LOOK
FORWARD TO THAT DISCUSSION.
I'D LIKE TO THANK ALL THE
PRESENTERS AS WELL AS THE EMPTY
CCT TEAM PARTICULARLY GLEN WHO
WAS SO ORGANIZED AND KEEPS US ON
TRACK AS WELL AS THE I.T.
SUPPORT SEW WITH THAT I'M GOING
TO HAND IT BACK OVER TO GLEN FOR
SOME FINAL COMMENTS AND THEN WE
WILL CALL IT THE END OF THE
MEETING.
>>Glen Nuckolls: THANK YOU FOR
MANAGING A COMPLICATED HYBRID
MEETING WITH UNTIL THE POLL
TMULTIPLE THREADS OFCONVERSATIOE
CHAT.
IF IT WORKS WELL FOR PEOPLE'S
SCHEDULES IS FOR THE FALL
MEETING TO TRY AND GO BACK TO A
FULL DAY IN-PERSON MEETING OR
PREDOMINANTLY IN-PERSON.
I SEE THE VALUE OF PEOPLE COMING
TOGETHER AND HAVING SIDE BAR
CONVERSATIONS AT BREAK TIMES AND
STUFF LIKE THAT AND IT SOUNDS
LIKE WE'VE GOT A COUPLE OF
PRETTY BEEFY TOPICS TO DEAL WITH
FOR THE FALL MEETING AND NEWBORN
SCREENING AND THEN A NUMBER OF
OTHER ADVOCACY GROUPS THAT MAY
WANT TO TELL US ABOUT THEIR
STRATEGIC PLAN.
WE HAVE SOME IDEAS FOR
ADDITIONAL TOPICS BEYOND THAT SO
WE MIGHT HAVE TO DO SOME
WEEDING.
SO THAT'S OUR THINKING AT THIS
TIME IS TO TRY AND HAVE, GO BACK
TO A PREDOMINANTLY IN-PERSON
9:00 A.M. TO 4:00 P.M. MEETING
HERE AROUND BETHESDA FOR THE
FALL.
HOPE THAT EVERYONE IS ABLE TO
COME AND PARTICIPATE IN THAT.
I SEE ONE THUMBS UP FOR THAT.
SO, YEAH, I AGREE.
THANK YOU TO ALL THE GREAT
PRESENTATIONS TODAY.
AND ALL THE HELP THAT I HAD FROM
VARIETY OF PEOPLE TRYING TO
ORGANIZE THIS MEETING.
>>Diana Bianchi: GREAT.
SO WITH THAT, WE'RE GOING TO LET
YOU ENJOY THIS BEAUTIFUL DAY AND
IT LOOKS LIKE IT'S 77° IN
BETHESDA OUTSIDE SO --
>>THANK YOU.
>>TAKE CARE EVERYBODY.
>>THANK YOU.