>> LET'S GET STARTED.
FIRST OF ALL I WOULD SAY MY
BRAIN HAS BEEN GOING INTO
HYPERSPEED, I DON'T KNOW IF THE
CONVERSATIONS YESTERDAY,
THINKING ABOUT THE LOT OF THE
COMMENTS MADE BOTH IN CLOSE AND
OPEN SESSION SO THANK YOU FOR A
WONDERFUL DISCUSSION YESTERDAY
AND I LOOK FORWARD TO
DISCUSSIONS TODAY.
I KNOW IT WILL BE EQUALLY
INTERESTING.
I THINK BEFORE WE GET STARTED,
WE PROBABLY SHOULD QUICK ROLL
CALL TO MAKE SURE WE HAVE
EVERYBODY HERE IN TOTAL CAPACITY
AND THEN WE WILL RUN THROUGH THE
AGENDA WITH YOU AND GET STARTED.
ANNA, I WILL TURN IT TO YOU FOR
QUICK ROLL CALL BEFORE WE START.
>> THANK YOU, JONI.
PAUL HARRIS.
>> HERE.
>> KRISTINA HARTMAN.
>> HERE.
>> TED HOLMAN.
>> HERE.
>> REBECCA JACKSON
>> HERE.
>> ANNIE KENNEDY.
>> HERE.
>> MATTHIAS KRETZLER.
>> YEP.
KELLY MCVEARRY, HERE.
>> KEITH MULLER.
>> HERE.
>> RAJESH RANGANATHAN.
>> HERE.
PAULA SHIREMAN.
>> HERE.
MARSHALL SUMMAR.
>> HERE.
RA JESH
>> THANK YOU, THE NEXT SLIDE.
>> YOU ARE IN THE PANEL SO YOU
ARE FREE TO SPEAK HOWEVER TO
MAINTAIN A SMOOTH PRESENTATION
USE YOUR RAISE HAND FEATURE AND
WAIT UNTIL YOU ARE WALLED UPON.
PLEASE ALLOW THE SPEAKERS TO
MOVE THROUGH THEIR PRESENTATIONS
NOTING YOUR COMMENTS WHEN CALLED
UPON.
WE ASK YOU USE CHAT JUDICIOUSLY
BECAUSE THE COMMENTS ARE OF
COURSE INTEGRATED INTO THE
MINUTES.
SO IT BECOMES PART OF THE
RECORD.
WE ARE ALSO LEUSING THE
VIDEOCAST FEATURE, SO MEMBERSES
IN THE AUDIENCE USE THE EMAIL
FUNCTION ON THE NIH VIDEOCAST
SITE USING THE BUTTON AVAILABLE
OR SENDING EMAIL TO NCATS
COUNCIL INPUT MAILBOX.
FUTURE MEETING DATES.
IN 2022 WE ARE ANTICIPATING A
FACE TO FACE NEEDING MAY 19 AND
SEPTEMBER 22ND.
IN 2023 WE ARE PLANNING A
VIRTUAL MEETING ON JANUARY 26
AND 27, ON MAY 25 AND SEPTEMBER
28.
THE MAY MEETING IN 2022, THE
NEXT MEETING CURRENTLY IS
PLANNED FOR FACE TO FACE MEETING
BUT CIRCUMSTANCES MAY DICTATE
THAT THAT MEETINGS ALSO -- SO
STAY TUNED WHETHER OR NOT WE ARE
FACE TO FACE OR VIRTUAL IN MAY.
MAY I HAVE THE NEXT SLIDE
PLEASE.
AS YOU CAN SEE TODAY WE WILL
HAVE A PROGRAM UPDATE FROM THE
OFFICE OF RARE DISEASE RESEARCH.
THEN WE WILL HAVE THE CLEARANCE
OF TWO CONCEPTS.
WE WILL HAVE THE NCATS TRIENNIAL
INCLUSION REPORT, THE PUBLIC
HEARING OF ORGANIZATIONAL
CHANGES AT NCATS AND THEN WE
WILL ADJOURN.
WITH THAT, NEXT SLIDE, WITH THAT
WE'LL TURN IT OVER TO JONI NOW
TO INTRODUCE OUR PROGRAM
UPDATES.
>> THANK YOU, ANNA.
I THINK THIS PROGRAM NEEDS TO
INTRODUCTION.
I GAVE IT YESTERDAY BUT VERY
EXCITED TO HAVE ANNE PARISER
WITH HER LAST UPDATE FOR THIS
COUNCIL AS DIRECTOR OF OFFICE OF
RARE DISEASE RESEARCH AND ALSO
TO GIVE A WARM HAND OFF TO PJ
BROOKS WHO WILL STEP IN AS THE
ACTING DIRECTOR AND HE CURRENTLY
SERVINGS AS DEPUTY DIRECTOR SO
THEY WILL DO A LITTLE TAG TEAM
HERE AND IT IS A PRETTY RICH
PRESENTATION SO I WILL --
WITHOUT FURTHER ADIEU I WILL
TURN IT OVER TO YOU, ANNE.
GO AHEAD.
>> GOOD AFTERNOON, EVERYONE.
I AM NOT ACTUALLY PJ BROOKS, I'M
ANNE PARISER, DIRECTOR OF OFFICE
OF RARE DISEASE RESEARCH AND PJ
IS SITTING RIGHT HERE IN THE
SAME ROOM, AS JONI SAID WE WILL
BE DOING COMBINED PRESENTATION.
SO I'M GOING TO TRY TO SHARE
SCREEN HERE.
SO WE CAN CONTROL.
>> IT IS RARE TO HAVE TWO PEOPLE
SITTING IN THE SAME ROOM WITHOUT
MASKS.
>> YES, IT IS.
ALL RIGHT.
SO CAN EVERYBODY SEE THE INTRO
SLIDE?
IT SHOULD SAY PROGRAM UPDATE
OFFICE OF RARE DISEASE RESEARCH.
>> ALL GOOD.
>> YES.
>> PJ YOU HAVE FULL CONTROL
ANNE.
>> THANK YOU.
SO JUST BY WAY OF INTRO, I JUST
TALK ABOUT OUR MISSION.
IT IS ONE HAND VERY SIMPLE BUT
VERY BROAD.
WE SEEK TO ADVANCE RARE DISEASE
RESEARCH TO BENEFIT OUR
PATIENTS.
AND WE DO THIS BY TRYING TO
IMPROVE THE RESEARCH PROCESS FOR
RARE DISEASES NOT FOR ANY ONE
PARTICULAR RARE DISEASE BUT TO
TRY TO IMPACT THE ENTIRE RARE
DISEASE ECOSYSTEM.
THIS SELECTION OF THIS PICTURE
IS WE THINK CURRENTLY WE ARE
ONLY LIMITED BY AS FAR AS WE ARE
WILLING TO SEE.
>> ANNE, SORRY TO INTERRUPT.
ARE YOU STILL ON THE TITLE
SLIDE?
>> IS IT STUCK?
>> IT'S STUCK.
>> HIT THE ARROW TO GO O THE
NEXT SLIDE.
>> CAN YOU SEE IT NOW?
WE ARE STILL ON THE TITLE.
>> STILL TITLE SLIDE.
>> MIKE IS ON HIS WAY TO HELP
YOU GUYS.
>> I'LL TRY SHARE SCREEN AGAIN.
>> ANNE.
>> YES.
>> WAIT UNTIL MI MIKE ARRIVES.
>> HE'LL BE HERE MOMENTARILY.
>> I DON'T KNOW WHO MIKE IS BUT
HE'S GETTING HIS STEPS IN TODAY
FROM COUNCIL TO COUNCIL.
>> MOST OF NCATS IS 9TH AND 10TH
FLOOR AND OFFICE OF RARE DISEASE
RESEARCH IS ON THE SECOND FLOOR
SO E H' HE'S DEFINITELY GETTING STEPS
IN.
THERE MIGHT BE STAIRS.
>> IS IT OKAY I MENTION THE
MEETING WE HAD WITH RKCR
LEADERSHIP WHILE WAITING?
>> SURE.
MIKE IS HERE.
>> IN THAT CASE I'LL SAVE IT.
>> GO AHEAD MARSHALL.
>> SURE.
SO I'M ONE OF THE ADVISORY
COUNSELORS FOR THE PLAQUE
WOMEN'S HEALTH IMPEARTIVE RARE
DISEASE INITIATIVE.
ONE THING WE TRYING TO DO IS GET
BASELINE OF DATA AROUND
PARTICIPATION OF
UNDER-REPRESENTED MINORITIES AND
DIFFERENT ETHNIC GROUPS AND RARE
DISEASE RESEARCH.
WE HAD A LITTLE BIT OF
PRELIMINARY DATA SUGGESTING IT
WAS LOW BUT BEFORE WE STARTED
DOING ADVOCACY FOR MAJOR POLICY
OR EFFORTS WE WANTED TO GET SOME
REAL DATA AND SO WE CAME TO WHAT
I CONSIDER THE LARGEST BEST RARE
DISEASE LONG TERM STUDIES GOING
ON SINCE 2004 AND WHAT WE ARE
DOING IS LOOKING TO CONSOLIDATE
DEIDENTIFY DATA FROM THE ANNUAL
REPORTS ON PATIENT ENROLLMENT
FROM THAT.
ACROSS THE PATIENTS.
REPRESENTS OVER 50,000 PATIENTS.
IN MANY WAYS DEALING WITH
LARGEST RARE DISEASE REPORTS
FROM THAT MET WITH LEADERSHIP
FROM PIs AND THEY ARE
RECEPTIVE TO THAT, WILLING TO DO
MORE BUT FIRST SEE WHAT THE BASE
IS BEFORE WE GO AND DO SOME
OTHER THINGS.
SEE WHAT THE REAL ISSUE IS.
>> THAT SOUNDS GREAT MARSHALL.
YOU MENTION IN YOUR REPORT DOES
THAT MEAN SOMETHING WILL COME
OUT OF THIS?
>> IT'S IN CONJUNCTION WITH RDRC
MAKING SURE THAT'S WITH ALL
RULES REGULATIONS AND THINGS
LIKE THAT.
THOUGH ANNUAL REPORTS ARE PUBLIC
DOMAIN WE DIDN'T WANT TO GO THAT
ROUTE.
WE WANTED TO WORK WITH THE RDCC
TO DO THIS AND FORWARD AS A
COLLABORATION.
WE WANT TO SEE WHAT NATURE OF
THE ISSUE IS BEFORE WE GO OUT
AND SAY THIS IS HARDLY MAY NOT
BE THAT BAD.
WHICH WOULD BE AWESOME OR IT
THAT BAD.
>> IF IT IS NOT YOU FIND ANOTHER
AREA TO FOCUS ON THAT IS AND
MOVE FORWARD.
>> CAN EVERYONE HER HEAR US?
>> YES.
>> I HAVE BEEN WORKING WITH HIM
FOR THREE AND A HALF YEARS.
PRE-COVID.
ON THAT.
IT'S BEEN MORE INTERESTING
PROJECTS I HAVE BEEN INVOLVED
WITH IN A WHILE.
TIINA URV IS ALSO INVOLVED AS
WELCH
>> GREAT, THANK YOU MARSHALL.
GOOD TO KNOW.
>> SO MIKE IS ACTIVELY RUNNING
UPSTAIRS TO GIVE CONTROL OF THE
SCREEN UNLESS SOMEBODY CAN DO IT
FROM THERE THEN SHOULD BE GOOD
TO GO.
>> YES.
>> PJ YOU NOW HAVE CONTROL.
>> PERHAPS NOT.
>> CAN THEY JUST DO IT FROM
THEIR ROOM?
MIC MAYBE OTHER SLIDES FROM HIS
END.
WHY WE SET IT UP THAT WAY.
>> LET'S DO IT TO MAKE SURE.
>> I WILL SAY NEXT SLIDE THEN.
>> WE CAN HEAR YOU.
>> NEXT SLIDE.
>> ALL RIGHT.
SO THIS IS A SLIDE ABOUT OUR
MISSION WHICH IS TO TRY IMPROVE
RARE DISEASE ENVIRONMENT FOR
EVERYONE.
WITH ALL ADVANCES IN SCIENCE OF
LATE, WE FEEL THERE ARE FEW
LIMITATIONS ON WHAT WE HAVE
POTENTIAL TO DO.
NEXT PLEASE.
SO WHAT I'M -- WHAT WE WILL BE
COVERING OVER THE NEXT SEVERAL
MINUTES THERE ARE FEW POINTS TO
KEEP IN MIND AS WE GO THROUGH
THIS.
WE HAVE MANY DISEASES, VERY FEW
APPROVED TREATMENTS BUT WE ARE
ALSO AT TIME OF UNPRECEDENTED
SCIENTIFIC OPPORTUNITY WHICH WE
TRYING TO TAKE ADVANTAGE OF.
A LOT OF PROGRAMS ARE NOW TRYING
TO THINK DIFFERENTLY, ADAPT OR
ADOPT NEW STRATEGIES INCLUDING
MANY DISEASES AT A TIME MODEL
HERE DISEASE, DEFINE DISEASE
DIFFERENTLY, OR PILOT
NON-TRADITIONAL APPROACHES AND
THAT IS WHAT WE WILL BE TOUCHING
ON.
THIS IS WHO WE ARE.
AS YOU HEARD FROM JONI YESTERDAY
I WILL BE STEPPING DOWN FROM
NCATS AND PJ WILL TAKE OVER AS
ACTING DIRECTOR.
THE REST OF THE TEAM HOPEFULLY
THEY LOOK FAMILIAR TO YOU BUT
THIS IS A FANTASTIC GROUP OF
PEOPLE WHO HAVE BEEN DOING GREAT
WORK.
NEXT PLEASE.
SO WHAT ARE THE PROBLEM TRYING
TO ADDRESS?
RIGHT NOW THERE ARE ABOUT 10,000
OR SO DIFFERENT RARE DISEASES
THAT ARE KNOWN.
THIS NUMBER INCREASES BY ABOUT
200 TO 300 NEW DISEASES EACH
YEAR.
THE DISEASES ARE NOT NEW, THEY
HAVE BEEN THERE ALL ALONG BUT
OUR ABILITY TO RECOGNIZE HAS
IMPROVED.
90% OF 10,000 DISEASE FALL UNDER
CATEGORY OF WHAT IS OFTEN CALLED
ULTRA RARE SO THESE WOULD BE THE
ONE IN A MILLION DISEASE OR
LESS.
SO THOSE WILL BE DISEASE THAT
HAVE HUNDREDS TO A FEW THOUSANDS
OF PATIENTS OR SOMETIMES EVEN
FEWER THAN THAT.
DIAGNOSIS REMAINS A REAL
CHALLENGE, HARD TO DIAGNOSE
PATIENTS, ESTIMATES ARE AROUND 5
OR MORE YEARS TO OBTAIN ACCURATE
DIAGNOSIS, SOMETIMES DECADES.
WE KNOW RARE DISEASE PATIENTS
ARE UNDERRECOGNIZED.
WE KNOW THERE ARE PEOPLE WHO ARE
UNDIAGNOSED.
AND DON'T KNOW THEY HAVE A RARE
DISEASE.
THEY ARE THE MAJORITY OF
DISEASES DON'T HAVE APPROVED
THERAPY AND INCREASINGLY IT IS
NOT NECESSARILY BECAUSE WE DON'T
HAVE THE SCIENCE BEHIND IT BUT
BECAUSE IT IS VERY HARD TO MAKE
A BUSINESS MODEL ARGUMENT FOR A
DISEASE THAT AFFECTS ONLY TEN
PATIENTS.
NEXT PLEASE.
SO THIS IS INFORMED OUR THINKING
AT ORDR, PROGRAMS AND
INITIATIVES AND WHERE WE DECIDE
WHERE WE WANT TO LOOK AND WHERE
WE WANT TO TRY TO ADVANCE
SCIENCE.
THIS DROPS INTO THREE MAIN
CATEGORIES.
DATA AND INFORMATICS TO THE
LEFT, RESEARCH PROJECTS IN THE
MIDDLE AND WHAT WE TERM
COLLABORATION.
TO THE RIGHT.
CAN YOU HIT NEXT?
I'M GOING TO START DATA AND
INFORMATICS.
NEXT PLEASE.
SO ONE OF OUR MOST IMPORTANT
LONGEST STANDING PROGRAMS IS
GENETICS AND RARE DISEASES
INFORMATION CENTER OR GARD.
THIS IS A CONGRESSIONALLY
MANDATED PROGRAM WHERE IN THE
RARE DISEASE ACT OF 2002 NIH WAS
DIRECTED TO SET UP A QUOTE
CLEARINGHOUSE ON RARE GENETIC
DISEASE AND KEEPING IN MIND BACK
IN 2002 WE KNEW A LOT LESS ABOUT
GENETICS AND RARE DISEASE THAN
WE DO NOW.
SO THIS WAS FIRST STOOD UP AS
INDIVIDUAL INCREASE SERVICE
WHERE PEOPLE COULD CALL OR WRITE
TO ASK QUESTIONS ABOUT RARE
DISEASE, MOST COMMON PERSON
CONTACTING US WOULD BE FOR
EXAMPLE A PARENT OR PATIENT,
JUST BEEN NEWLY DIAGNOSED AND
DOESN'T KNOW WHAT TO DO.
THEN THE WEBSITE WAS LAUNCHED IN
2008.
THE WEBSITE HAS FREELY
ACCESSIBLE PATIENT FRIENDLY WEB
PAGES ON 6500 RARE DISEASE AND
WE STILL MAINTAIN THE INDIVIDUAL
INQUIRY SERVICE SO MORE THAN 20
MILLION USERS A YEAR, MORE THAN
TEN THOUSAND INDIVIDUAL
INQUIRIES EACH YEAR.
THIS ACTUALLY ACCOUNTS FOR VERY
HIGH PROPORTION OF NCATS WEB
TRAFFIC AND HIGH PROPORTION OF
NIH WEB TRAFFIC SO IF YOU CAME
TO THE LANDING PAGE THIS IS WHAT
IT WOULD LOOK LIKE AND PUT THE
LINK THERE.
SO WHAT IS NEW WITH GARD?
A LOT.
IT IS UNDERGOING A MAJOR
REVISION TO GARD 2.0, WE HAVE
BEEN WORKING ON THIS SEVERAL
YEARS NOW.
IT HAS BEEN A CHALLENGE TRYING
TO KEEP UP WITH 6500 OR MORE
RARE DISEASES AND TO TRY TO KEEP
THAT INFORMATION UP TO DATE.
IT IS REALLY ALMOST GONE BEYOND
THE ABILITY FOR HUMANS TO DO
THIS ALONE SO WE HAVE BEEN
WORKING ON A MACHINE LEARNING
MACHINE CAPTURE APPROACH AND
ALSO TRY TO MAKE THE MOST OF THE
INFORMATION THAT IS THERE.
COLLECTED ONCE REUSE IT MANY
TIMES, WHICH IS NOT SOMETHING
THAT HAD BEEN IN THE OLDER
MODEL.
ANOTHER GOAL IS SINCE PATIENTS
OFTEN HAVE TO ADVOCATE FOR THEIR
RARE DISEASES IS TO TRY TO
IMPROVE HEALTH LITERACY AROUND
RARE GENETIC DISORDERS.
SO WE REALLY HAVE EXCITING NEWS,
THE GARD 2.0 SITE HAS DONE A
TEST SITE LAUNCH.
TO SHOW THAT TO YOU NOW.
NEXT PLEASE.
ON THE LEFT-HAND SIDE IS GARD
1.0, THE OLD SITE, THAT PURPLE
BOX THAT HAS CIRCLE AROUND IT,
YOU CAN PREVIEW THE NEW SITE
THAT WILL TAKE YOU TO GARD 2.0
WHICH IS RIGHT.
YOU CAN APPRECIATE THE DIFFERENT
LOOK AND FEEL TO IT.
THIS IS ON THE BACK END, A MUCH
MORE MODULAR CONSTRUCTION WHERE
THESE ARE DISCRETE LEARNING
ELEMENTS.
THE ADVANTAGE OF THIS IS WHEN
YOU STORE IT THIS WAY YOU CAN
REUSE IN NUMBER OF DIRECTIONS AS
WELL AS TRYING TO MAKE THIS MORE
USER FRIENDLY FOR THE PATIENTS.
THIS IS AN EXAMPLE HERE CYSTIC
FIBROSIS BOTH SIDES, LESS
HORIZONTAL SCROLLING AND LENS
DENSE TEXT AROUND MOVING TWO
BOARDS LEARNING ELEMENTS TYPE
MODULE THAT WOULD HOPEFULLY BE
MORE MEANINGFUL AND ACTIONABLE
TO PATIENTS.
SO JUST ASKING IF YOU CAN ALL
COME TAKE A LOOK AT THE SITE,
LOOK AT THESE DISEASES AND WOULD
REALLY WELCOME YOUR FEEDBACK.
SOMETHING ELSE NEW, SINCE THE
LAST TIME WE WERE HERE WE HAVE
BEEN WORKING ON THE IDEA
INITIATIVE.
IT STANDS FOR IMPACT OF RARE
DISEASE ON PATIENTS AND
HEALTHCARE SYSTEMS A LITTLE BIT
OF A TORTURED ACRONYM BUT WHAT
WE ARE TRYING TO DO HERE IS TO
QUANTIFY THE BURDEN OF RARE
DISEASES TO TRY TO PUT SOME
OBJECTIVE DATA AROUND THIS.
SO TO DO THIS WE PERFORMED A
PILOT STUDY.
THIS WAS A COLLABORATION BETWEEN
SEVERAL OF US HERE AT NCATS AS
WELL AS UNIVERSITY OF COLORADO
STANFORD HEALTH AND A DATA
ANALYTICS COMPANY.
NEXT PLEASE.
TO THE LEFT OF THIS IS
BEPUBLISHED A PAPER IN OCTOBER
WITH THE RESULTS OF OUR STUDY
AND WHAT THE STUDY DOES, IT WAS
A 14 DISEASE PILOT, SELECTED 14
REPRESENTATIVE DISEASES AND
DELIBERATELY WORK THROUGH THIS
TO QUANTIFY A FEW THINGS I WILL
SHOW YOU IN A MINUTE.
BOTTOM LINE ON THIS THREE WORDS
TO THE RIGHT.
RARE DISEASES ARE ACTUALLY
COMMON, THEY ARE CERTAINLY VERY
COSTLY AND THEY ARE POTENTIALLY
ACTIONABLE.
HERE ARE THE KEY FINDINGS FROM
THE STUDY, SO WHAT WE DID IS
TRIED TO FIND DISEASE WITHIN
THESE VARIOUS EMR HEALTHCARE
SYSTEM DATABASES.
THE FIRST PASS WAS TO TRY TO
IDENTIFY THE ICD CODE.
THIS WAS CHALLENGING BECAUSE A
LOT OF RARE DISEASES DON'T HAVE
THEIR OWN ICD CODES OR THEY
AREN'T CODED PROPERLY.
SO WHAT WE SAW THERE THAT THIS
WAS VERY HARD TO FIND AN
ACCURATELY ESTIMATE NUMBER OF
RARE DISEASE PATIENTS USING
THESE READILY AVAILABLE DATA
SOURCES TOOLS WE HAD SO WE HAD
TO USE OTHER STAT STRATEGIES TO
TRY TO FIND THE PATIENTS AND
THEN QUANTIFY THINGS.
THEN WHAT WE DID IS TRIED TO
QUAWNTD FI THIS DIRECT MEDICAL
COST OF RARE -- QUANTIFY THE
DIRECT MEDICAL COST, THE COSTS
ARE VERY HIGH.
THIS IS A SURROGATE FOR ILLNESS
RARE DISEASE TEND TO BE VERY
SERIOUS AND RARE DISEASE
PATIENTS ARE HIGH UTILIZERS OF
MEDICAL HEALTHCARE SYSTEMS.
WE WERE FINDING ABOUT THREE TO
FIVE TIMES HIGHER COST FOR RARE
DISEASE VERSUS NON-RARE
CONTROLS, EXTRAPOLATING TO 25 TO
30 RARE DISEASE PATIENTS THAT
COMES TO SOMEWHERE AROUND $400
BILLION A YEAR.
WHAT WE ALSO DID IS WE TRIED TO
QUANTIFY THAT DIAGNOSTIC
ODYSSEY, THAT JOURNEY TO
DIAGNOSIS, WE CAN SAY QUITE
UNEQUIVOCALLY THAT DIAGNOSTIC
JOURNEY IS REAL AND IT IS
PROLONGED.
AND IN SOME CASES RESULTS OF
THIS DELAY RESULTS IN
IRREVERSIBLE COMPLICATIONS THAT
CAN CONTRIBUTE TO ONGOING HIGH
COST OF CARE.
WE WERE LOOKING FOR SIGNAL IN
HERE WHERE MACHINE ASSISTED
STRATEGIES MIGHT BE FEASIBLE.
AND THIS IS A GOOD NEWS HERE.
WE THINK THAT MAY BE POSSIBLE,
THESE STRATEGIES NEED TO BE
DEVELOPED.
NEXT PLEASE.
WE WEREN'T THE ONLY ONES THAT
LOOKED AT THIS THE PAST YEAR,
FOUR STUDIES PUBLISHED AROUND
THE SAME TIME IN 2021.
THEY WERE DONE VERY DIFFERENTLY
BUT THEY CAME WITH THE SAME
OVERALL MESSAGE, RARE DISEASES
ARE COSTLY IN ECONOMIC AND HUMAN
TERMS.
HARD TO RECOGNIZE PATIENTS IN
HEALTHCARE SYSTEM DATABASES BUT
THE GOOD NEWS IS THEY ARE
POTENTIALLY ACTIONABLE BUT
UNDERPRIORITIZED GIVEN
HEALTHCARE SYSTEM IMPACT.
LISTED HERE THE OTHER STUDIES,
THE LIFE FOUNDATION DID A BURDEN
STUDY THEY LOOK AT DIRECT AND
INDIRECT COST ABOUT $1 TRILLION
A YEAR.
OUR STUDIES CAME TO ABOUT 400
BILLION WITH DIRECT COST REALLY
NOT THAT DIFFERENT EVEN THOUGH
IT USE DIFFERENT METHODOLOGIES
AND AURORA HEALTH DID SOMETHING
SIMILAR, CAME UP WITH SIMILAR
NUMBERS.
THERE WAS A GAO REPORT.
THEY DID NOT QUANTIFY RARE
DISEASE BUT DID COME TO THE
CONCLUSION THAT AVAILABLE
EVIDENCE SHOWS RARE DISEASES ARE
VERY COSTLY.
SO NO REAL SURPRISES THERE BUT I
THINK IT WAS VERY IMPORTANT TO
GET THIS OBJECTIVE INFORMATION.
NEXT PLEASE.
SO NOW JUST TOUCH ON SOME OF OUR
RESEARCH PROGRAMS, NEXT PLEASE.
THROUGH NEW THIS YEAR IS THE
PUBLISHED FUNDING ANNOUNCEMENT
ON TRYING TO DEVELOP STRATEGIES
TO SHORTEN DIAGNOSTIC ODYSSEY.
SO WE PUBLISHED A ONE TIME
FUNDING ANNOUNCEMENT USING THE
BIPHASIC MECHANISM.
TO ASK APPLICANTS TO DEVELOP
MULTI-DISCIPLINARY COMBINATION
MACHINE ASSISTED GENOMIC
ANALYSIS AND CLINICAL APPROACH
TO TRY TO SHORTEN THAT ODYSSEY.
SO WHAT WE ALSO ASKED THESE NOT
BE APPLICABLE TO ONE OR TWO OR
SMALL NUMBER OF RARE DISEASE BUT
THESE STRATEGIES BE USED ACROSS
A BROADER ARRAY OF RARE DISEASE
TO TRY TO IDENTIFY PATIENTS
FASTER AND VERY IMPORTANTLY WE
THINK IS THIS A METHODOLOGY THAT
COULD BE USED BY FRONT LINE
PROVIDERS BECAUSE THAT IS OFTEN
WHERE A LOT OF DELAY OCCURS.
JUST ALSO LIKE TO MENTION THAT
IN SEPTEMBER COUNCIL ALSO
APPROVED SBIR MECHANISM TO TRY
TO WORK ON THIS AS WELL.
NEXT PLEASE.
SO THIS WAS FEEDING INTO THIS
LARGER QUESTION THAT WE
IDENTIFIED IN IDEAS AS WELL AS
TRYING TO WORK ON DIAGNOSTIC
ODYSSEY, CAN WE DEVELOP WHAT WE
ARE CALLING ZEBRA TRIGGERS.
ARE THERE THINGS IN THE MEDICAL
RECORD WE CAN USE RARE DISEASE
INFORMATICS OR MACHINE LEARNING,
TO TRY TO SHORTEN THIS APPROACH
RATHER THAN JUST WHAT WE DO NOW
IS BASICALLY GO PATIENT BY
PATIENT TO TRY TO IDENTIFY
PEOPLE.
I'M SORRY, CLICK BACK AGAIN.
SO WE ARE CALLING THESE ZEBRA
TRIGGERS BECAUSE OF THE OLD
MEDICAL SCHOOL ADAGE WHERE THEY
TELL NEW MEDICAL STUDENTS THINGS
COMMONLY FORCES NOT ZEBRAS.
SO NEXT PLEASE.
BUT WE ARE OF COURSE ZEBRAS SO
WE WANT PEOPLE TO THINK ZEBRAS
BUT WE WANT PEOPLE TO THINK
ZEBRA SPECIFICALLY WHEN YOU
START SEEING SOME OF WHAT WE
THINK ARE SENTINEL
CHARACTERISTICS SO YOUNGER AGES
HIGHER UTILIZATION, MUST WANT PL
CONCEPTS, TRAVELING ALL OVER
TRYING TO GET DIAGNOSIS BUT
SOMEBODY CALL IMPRECISE
DIAGNOSTIC CODES SO WE MOSTLY
DON'T HAVE ICD CODES, OUR IDEA
STUDY IN THIS PRELIMINARY LOOK
WE THINK THIS IS QUITE FEASIBLE.
MENTION PLEASE.
AND ANOTHER VERY LONG SANDING
LARGEST PROGRAM RARE DISEASE
RESEARCH NETWORK, THIS IS A
NETWORK OF CENTERS OF EXCELLENCE
THAT ARE GROUPED AROUND RARE
DISEASE THERAPEUTIC AREAS AND
THE PURPOSE OF THE RDCRN IS
FACILITATE COLLABORATIVE
RESEARCH.
THE NETWORK IS GROUPED TO
CONSORTIA AND THEY HAVE TO STUDY
THREE OR MORE DISEASES RELATED
IN SOME WAY SO FOR EXAMPLE,
COULD BE A RARE LUNG CONSORTIA
OR RARE MITOCHONDRIAL CONSORTIA
OR MUTATION OR SOME OTHER FEE
AROUND WHICH THE CONSORTIA IS
GROUPED.
IN THIS PATIENTS RESEARCH AND
CLINICIANS ALL WORK TOGETHER SO
THIS IS FIRST ESTABLISHED IN
2002, THESE ARE FIVE YEAR
AWARDEE COHORT AND WE ARE RIGHT
NOW GETTING TOWARDS THE END OF
WHAT ARE THE FOURTH COHORT WHICH
IS SCHEDULED TO END IN 2023.
SO CURRENTLY THE RDCRN INCLUDES
20 CONSORTIA, I WILL MENTION
DATA COORDINATING CENTER AND IT
IS TEN NIH INSTITUTES AND
CENTERS THAT COLLABORATE IN THE
RDCRN.
THIS IS A BRIEF OVERVIEW OF THE
CURRENT RDCRN AND THROUGH THIS
WE ARE ABLE TO STUDY ALMOST 200
DIFFERENT RARE DISEASES, MORE
THAN 300 CLINICAL SITES, 160
PATIENT GROUPS AND MANY PATIENTS
STUDIES AND TRIALS.
SO SEEING MORE ABOUT THIS AND
CONCEPT PRESENTATION THAT WILL
FOLLOW THIS, RETURN TO THIS IN A
LITTLE WHILE.
NEXT PLEASE.
HERE IS A FEW CUMULATIVE STATS
FROM THE RDCRN.
THIS IS A SUCCESSFUL MODEL MANY
DISEASES AT TIME OF APPROACH FOR
RARE DISEASE WHERE WE ARE ABLE
TO LEARN FROM ONE ANOTHER ACROSS
DISEASE AND WITHIN DISEASE
CLUSTERS.
THE NETWORK SINCE INCEPTION HAS
HAD MORE THAN 1500 PUBLICATIONS,
THOUSANDS OF PRESENTATIONS AND
SUPPORTED MORE THAN 300 EARLY
STAGE INVESTIGATORS.
WE DID THE STATS OF THE STUDIES,
87 NATURAL HISTORY STUDIES WHICH
IS A LOT.
CERTAINLY FOR RARE DISEASES SOME
OF THESE HAVE BEEN GOING ON FOR
MORE THAN 15 YEARS, JUST A
REALLY GOOD BODY OF INFORMATION.
STUDIES THAT 90 STUDIES DEVELOP
OUTCOME MEASURES THAT CURRENTLY
HAVE 26 ONGOING, 28 -- 38
COMPLETE CLINICAL TRIALS THINGS
THAT -- FOUR LED TO DRUG
APPROVALS AND ABOUT 76 HAVE LED
TO SOME KIND OF CHANGE IN
CLINICAL PRACTICE.
SO THIS IS REMARKABLE GIVEN THE
LANDSCAPE OF RARE DISEASES.
I THINK IT IS DEFINITELY SHOWING
VALUE.
NEXT PLEASE.
ANOTHER NEWER CATEGORY OF GRANTS
IS CLINICAL TRIAL READINESS
GRANTS.
THIS HAS BEEN A THREE YEAR
PROGRAMMATIC ANNOUNCEMENT
BETWEEN 2018 AND 2021 FOR TWO
TYPES OF GRANTS, THE R21
INNOVATION GRANTS OR THE RO 3
SMALL GRANTS.
THE PURPOSE OF THIS IS TO TRY TO
ENABLE EFFICIENT AND EFFECTIVE
MOVEMENT OF CANDIDATE
THERAPEUTIC OR DIAGNOSTICS
TOWARDS CLINICAL TRIALS AND
PARTICULARLY FOCUSING ON THINGS
SUCH AS BIOMARKERS AND CLINICAL
OUTCOME ASSESSMENTS TRYING TO
VALIDATE THOSE.
IT ALSO INCLUDE TRYING TO BETTER
DEFINE A RARE DISEASE SUCH AS
THROUGH DATA ANALYTICS OF THESE
NATURAL HISTORY TRIALS OR
DEVELOP ANIMAL MODELS.
SO WE CAME OUT WITH THIS THREE
YEARS AGO IT WAS THE SUGGESTION
OF RARE DISEASE RESEARCH VAI
TOFERS WHO NOTICE --
INVESTIGATOR WHOSE NOTICED THIS
AS A GAP.
SO WE MADE OVER 25 AWARDS, NICHD
HAS SIGNED ON AND I THINK IT IS
REALLY ADDRESS PROBLEM IN A
BROADWAY, VERY DIVERSE BROAD
ARRAY OF RARE DISEASE THAT HAVE
BEEN INVOLVED IN THESE AWARDS AS
WELL AS VERY DIFFERENT
APPROACHES TO TRY TO INCLUDE --
IMPROVE THAT CLINICAL TRIAL
READINESS.
AT THIS POINT IN TIME I'D HAND
IT OVER.
>> THANKS, ANNE.
I WILL TAKE IT UP HERE WITHIN
RESEARCH PRESENTATION AND TALK
ABOUT VARIETY OF OUR MANY
DISEASE AT TIME APPROACHES AND
PROJECTS.
NEXT SLIDE.
THE BASIS OF THIS IS FOR ONE OF
THESE WE CALL FOCUSED ON SHARED
MOLECULAR ETIOLOGIES OR THR
PEUTICS.
IT HAS TO DO WITH THE FACT THAT
DISEASES INCLUDING RARE DISEASE
IDENTIFY AND TREATED BASED ON
CLINICAL MANIFESTATIONS
PHENOTYPE SO WE HAVE THOUSANDS
OF RARE GENETIC DISEASE BUT THE
GOOD NEWS IS WE HAVE FAR FEWER
UNDERLYING ETIOLOGIES, HERE
TALKING GENETIC DISEASE AND
SYSTEM OF THESE INCLUDE
PREMATURE STOP CODONS AND MISS
FOLDED PROTEINS, SIGNAL DEFECTS,
ET CETERA.
WE DEVELOP THERAPEUTICS TO
TARGET THESE ETIOLOGIES.
SO THE IDEA IS GROUP DISEASE IN
NON-TRADITIONAL WAYS, TO PAY
LARGER PATIENT POOLS AND GAIN
EFFICIENCIES IN DEVELOPMENT AND
PARTICULARLY CLINICAL TRIALS
START UP.
NEXT SLIDE.
SO THIS SHOWS A CARTOON EXAMPLE
OF THIS, WE HAVE FOUR DIFFERENT
DISEASES HERE, A B C AND D.
WITHIN EACH DISEASE THERE ARE
PATIENTS WITH DIFFERENT
UNDERLYING ETIOLOGIES AND SO WE
CAN IMAGINE IF WE HAD A DRUG
THAT TARGETS THE ETIOLOGY IN RED
FOR EXAMPLE, WHAT IS THE BEST
WAY TO VIEW A CLINICAL TRIAL?
AND THE WAY TO DO IT WOULD BE
PULL OUT THOSE PATIENTS,
IDENTIFY THOSE PATIENTS WITH THE
RED ETIOLOGY, PUT THEM ALL
TOGETHER INTO A NEW GROUP.
AND THEN DO THE CLINICAL TRIAL
ON THOSE INDIVIDUALS USING THE
SAME DRUG AND FIGURE OUT WHAT
THE OUTCOME MEASURES ARE.
ESSENTIALLY PUT THOSE PATIENTS
INTO A BASKET AND HENCE THE TERM
BASKET TRIALS WHERE YOU HAVE
DIFFERENT DISEASES AND ONE
THERAPEUTIC.
NEXT SLIDE.
AND THE GOOD NEWS HERE IS THAT
THERE IS A PRECEDENT FOR THIS
IMPORTANTLY A REGULATORY
PRECEDENT.
THESE ARE GENOMICALLY DRIVEN
ONCOLOGY BASKET TRIALS AND HERE
IS AN EXAMPLE OF A DRUG THAT
TARGETS A SHARED ETIOLOGY, THE
CLINICAL TRIAL THAT INVOLVED
MANY DIFFERENT TYPES OF TUMORS.
YOU CAN SEE THE NUMBERS HERE
VERY SMALL NUMBERS NOBODY ON THE
RIGHT MIND WOULD HAVE START AD
WHOLE CLINICAL TRIAL FOR
CARCINOMAS WITH THIS DRUG BUT
PUTTING THEM TOGETHER IN A
BASKET MAKES VERY EFFICIENT
CLINICAL TRIAL AND VERY
IMPORTANTLY LED TO FDA APPROVAL
OF THIS DRUG.
WHAT WE WANT TO DO IS TAKE THIS
APPROACH AND PLY TO RARE DISEASE
FOR DRUGS THAT SHARE M MOLECULAR
ETIOLOGIES SO WE PUT OUT A
FUNDING OPPORTUNITY FOR THIS, WE
FUNDED TWO PROJECTS AS SHOWN
THERE.
ONE OF THOSE THE LATTER ONE WE
TALK ABOUT JAK STAT GAIN OF
FUNCTION DISORDERS IS A REALLY
GREAT EXAMPLE OF DIFFERENT TYPE
OF DISEASE THAT WE CAN THINK
ABOUT THAT'S FOCUSED ON A SHARED
ETIOLOGY.
SO THESE ARE ONGOING AND AS I
MENTION IN THE CHAT YESTERDAY
THE BIG FOCUS ON THESE IS FOCUS
ON REGULATORY PROCESS.
THE MILESTONES, BIG MILESTONE IS
GETTING AN IND FOR A CLINICAL
TRIAL LIKE THIS, AND DISCUSSIONS
AND INTERACTION WITH THE FDA
REQUIRED AS PART OF THIS AWARD.
A KEY THING HERE SOMETHING WE
ALSO DO IN WRITING IS WE
ENCOURAGE INVESTIGATORS TO
CHOOSE DISEASE WHETHER MULTIPLE
AND DIVERSE CLINICAL OUTCOMES
BECAUSE THE ONE ADVANCE --
ADVANTAGE THAT CANCER HAS IS
BASICALLY FOR ONCOLOGY STUDY IT
IS OUTCOMES IS BASICALLY DOES
THE TUMOR GET BIGGER SMALLER
STAY THE SAME.
RARE DISEASES THAT THE OUTCOMES
ARE GOING TO BE DIVERSE, WE WANT
TO INVESTIGATORS TO FIGURE OUT
AND GRAPPLE WITH THAT CHALLENGE
AND DESIGN CLINICAL TRIAL
GETTING THE IND.
SO THESE ARE JUST STARTING OUT
NOW VERY INTERESTING TO SEE
WHERE THEY GO.
WE HAVE ANOTHER FUNDING
OPPORTUNITY THAT SUPPORT IT IS
SAME THING THAT IS FOR SMALL
BUSINESSES TO THE SBIR
MECHANISM.
WE ALSO PARTICIPATE THIS WE
CAN'T TALK A LOT ABOUT THIS
BECAUSE OF TIME BUT WE
PARTICIPATE IN THE INTERNATIONAL
RARE DISEASE RESEARCH CONSORTIUM
AND WE STARTED UP A WORKING
GROUP TO FOCUS ON THE SAME ISSUE
OF DRUGS AND CLINICAL TRIALS
DRRGS TARGETING SHARED
ETIOLOGIES AND MULTIPLE RARE
DISEASES.
NEXT SLIDE.
MEETING TOWARDS GENETHER PE AND
GENE EDITING WHICH ARE CLEARLY
THERAPEUTIC PLATFORMS APPLICABLE
TO MULTIPLE DISEASE, JONI TALKED
LAST COUNCIL ABOUT PLATFORM
VECTOR GENE THERAPIES OR PEGT
PROGRAM, THAT IS A COLLABORATIVE
EFFORT BETWEEN ORDR, NCATS
THERAPEUTICS DEVELOPMENT BRANCH.
NCATS OFFICE OF STRATEGIC
INVESTIGATORS AND NHGRI AND
NINDS.
THIS IS A PUBLIC PLATFORM GENE
THERAPY TRIAL, WE ARE TRYING TO
STARTUP CLINICAL TRIALS FOR FOUR
DISEASES, USING THE SAME
THERAPEUTIC PLATFORM, SAME AAV
VECTOR, SAME ROUTE OF
ADMINISTRATION, SAME PRODUCTION
FEURTYCATION, THE PROCESS AS A
PRODUCT AS HAY SAY AD FDA.
AND JUST CHANGING THERAPEUTIC
PAYLOAD INTO THOSE GENE
THERAPIES.
I THINK WHAT MAKES THIS PROGRAM
DIFFERENT AND UNIQUE IS WE PLAN
TO MAKE ALL THE BROADLY RELEVANT
DATA INCLUDING OUR
COMMUNICATIONS WITH THE FDA
PUBLICLY AVAILABLE SO OTHER
PEOPLE CAN LEARN FROM IT AND
REALLY THINKING HERE A LOT ABOUT
THE FAMILIES AND OF PATIENTS
WITH RARE DISEASES THAT ARE TOO
RARE TO GAIN COMMERCIAL INTEREST
AND SO ALL THESE FAMILIES ARE
HAVING TO START UP THESE AAV
THERAPY GENE CLINICAL TRIALS ON
THEIR OWN.
YOU WOULD LIKE TO MAKE THIS
WHOLE PROCESS EASIER FOR THEM.
NEXT SLIDE.
IT IS BASED UPON THE FACT THAT
ADENOASSOCIATED VIRUSSER AAV CAN
BE USED IN FAIRLY STRAIGHT
FORWARD WAY AT LEAST
TECHNICALLY, THE WAY THAT WORKS
IS WE TAKE THE AAV
ADENOASSOCIATED VIRUS, TAKE OUT
VIRAL DNA AND PUT IN THERAPEUTIC
HUMAN DNAS AND MAKE DIFFERENT
TREATMENTS OUT OF THEM, THAT IS
THE SENSE WE MEAN BY GENE
THERAPY.
YOU CAN THINK OF THESE AAV
VECTORS AS DELIVERY BOXES THAT
ARE PRE-ADDRESSED IF YOU WILL TO
DELIVER THERAPEUTIC GENES TO
TARGET TISSUES.
THEY CAN BE SINGLE TISSUES OR
MULTIPLE TISSUES SO BUN WE CHOSE
FOR PAGT CALLED AAV 9 THAT
DELIVERS GENES MUSCLE AND LIVER
AS WELL AS OTHER TISSUES.
SO WE CAN USE THAT SAME DELIVERY
BOX IF YOU WILL TO TREAT
DISEASES THAT AFFECT BOTH MUSCLE
AND LIVER WITHIN THE PEGT
PROGRAM.
NEXT SLIDE.
SO TO SEE WHAT WE ARE DOING HERE
YOU CAN CONTRAST TRADITIONAL
CLINICAL DEVELOPMENT PARADIGMS
SO IMAGINE GENE THERAPIES FOR
THESE FOUR DIFFERENT RARE
GENETIC DISORDERS, ORGANIC
ACIDEMIAS DEFICIENCY AND
NEUROMUSCULAR JUNCTION DISORDERS
DOCKS 7 AND COQ DEFICIENCY.
SO THE TRADITIONAL IS GO THROUGH
DISEASES BOTTOM TO TOP IN
PARALLEL DOING EVERYTHING SAME
DESPITE YOU ARE USING THE SAME
DELIVERY SYSTEM, THE SAME
FACILITY FOR ALL FOUR DISEASE.
IF YOU LOOK AT IT QUITE
DUPLICATIVE, WE HOPE TO DO IN
PAGT IS ESSENTIALLY AS WE GO TO
THE FDA SAY LOOK, WE HAVE THE
SAME PLATFORM VECTOR, THE SAME
AAV 9, MADE MT. SAME FACILITY,
CAN WE REDO SOME OF THESE STEPS
PERHAPS EVEN SKIP THESE AS WE GO
INTO START UP THESE CLINICAL
TRIALS.
SO THINGS LIKE FOR EXAMPLE THE
BIODISTRIBUTION OF THE DRUG.
YOU WOULD IMAGINE WOULDN'T HAVE
TO CHANGE BECAUSE IT IS BASED ON
AAV 9 VECTOR AND TO BE
INDEPENDENT OF THE GENE THAT IS
IN IT.
SO OUR IDEA HERE IS AS WE MOVE
FORWARD WITH THESE DISCUSSANTS
OF THE FDA APPROVED IMD AS WE
ASK QUESTIONS PROPOSE WAYS TO
STREAMLINE THE PROCESS.
AS HAY RESPOND TO US WE WILL
MAKE IT AVAILABLE TO OTHERS SO
EVERYBODY IN THE COMMUNITY CAN
LEARN WITH US.
WE CAN REALLY SEE HOW MUCH WE
CAN EXPLOIT THE PLATFORM
CAPACITY OF AAVs FOR HUMAN
GENE THERAPY AN RARE DISEASES.
NEXT SLIDE.
SO THE STATUS OF PAGT VERSUS
FAIL EARLY STAGE WE HAVE A LEAD
CANDIDATE FOR ONE DISEASE, PCCA
DEFICIENCY, METABOLIC DISEASE
STUDIED MANY YEARS BY CHUCK, ONE
OF OUR COLLABORATORS.
AS WAS MENTIONED WE OBTAINED AN
ORPHAN DESIGNATION IN OCTOBER OF
2021 AND ANNE PARISER WORKED ON
THAT EFFORT WE ARE WORKING ON A
WHITE PAPER TO DESCRIBE THAT AND
MAKE THE DOCUMENTS PUBLIC SO
OTHERS BENEFIT FROM THEM.
WE ALSO HAD AN INTERACT MEETING
WITH THE FDA CBER IN JULY AND
PLAN TO WRITE A PAPER MAKE THESE
DOCUMENTS PUBLIC.
ULTIMATELY ALSO RARE PEDIATRIC
DISEASE DESIGNATION APPLICATION.
AND AGAIN CONTINUE TO GO THROUGH
THE PROCESS, MAKING THE
INFORMATION PUBLIC SO OTHERS CAN
LEARN AND BENEFIT FROM IT.
NOW MOVING TO ANOTHER EFFORT WE
SPOKE GENE THERAPY CONSORTIUM OF
BGTC WHICH ALSO WAS LAST
COUNCIL, TO SOME EXTENT THE IDEA
IS THE SAME, IT IS TO IDENTIFY
AND STREAMLINE THE PROCESS OF
STARTING UP AAV GENE THERAPY
TRIALS BUT SIGNIFICANT
DIFFERENCE HERE IS THIS IS A
PUBLIC PRIVATE PARTNERSHIP SO IT
INVOLVES -- ORGANIZED BY THE
FOUNDATION FOR NIH.
WHICH IS NOT THE NIH SO WE HAVE
DIFFERENT OPPORTUNITIES THERE IN
PARTICULAR OPPORTUNITIES TO WORK
WITH DIFFERENT BIOTECH COMPANIES
AND RELATING THIS WITH PFIZER
AND VERY IMPORTANTLY PETER MARKS
DIRECTOR OF CENTER FOR
BIOLODGEICS AT FDA.
NEXT SLIDE.
WE HAVE A LARGE NUMBER OF
PARTNERS IN THIS PARTICULAR
ACCELERATED MEDICINES PROGRAM, I
THINK THE IS A LARGEST ONE WE
HAVE MANY DIFFERENT NIH
INSTITUTES AND CENTERS ON THE
LEFT, PRIVATE SECTORS ON THE
RIGHT.
AND IN FACT WE CONTINUE TO ADD
AS THE PROGRAM LAWRNLGS WE HAVE
INCREASING INTEREST AND BEING
CONTACTED FOR MORE PARTNERSHIPS
WHICH IS WELCOME.
SO THERE IS TWO COMPONENTS OF
BTTC, BASIC SCIENCE COMPONENT
FOCUSED ON BETTER UNDERSTANDING
OPTIMIZING IF YOU WILL THE BASIC
BIOLOGY OF AAV AS IT IS RELEVANT
TO MAKING AAV VECTORS FOR HUMAN
GENE THERAPY AND ENHANCING
THERAPEUTIC GENE EXPRESSION ONCE
IT GETS TO PATIENTS.
PART WILL INVOLVE HIGH THROUGH
PUT ASSAYS THAT WILL BE CARRIED
OUT BY THE NCATS INTRAMURAL
PROGRAM.
AND THEN THE LARGER PART OF THE
PROGRAM IS CLINICAL COMPONENT
WHERE TRYING TO ADVANCE AAV
THERAPIES FOR THE SPOKE CLINICAL
APPLICATIONS, TRYING TO
HARMONIZE BEST PRACTICES FOR
MANUFACTURING AND ASSAY
THERAPEUTICS.
IDENTIFIES STREAMLINE REGULATORY
PATHWAY.
THE FOCUS OF THIS THE BESPOKE
BECAUSE FOCUSING HERE ON DISEASE
OF NO COMMERCIAL INTEREST BY
VIRTUE OF FACT THEY ARE LOW
PREVALENCE THIS IS HOW THIS
PROGRAM EXIST IN PRE-CLINICAL
SPACE WHICH IS A REQUIREMENT FOR
THESE AMP PROGRAMS.
NEXT SLIDE.
BECAUSE JONI MENTIONED THIS, I
DON'T WANT TO TAKE TOO MUCH TIME
BUT KEY QUESTION IS HOW TO
IDENTIFY DISEASE THAT WILL BE
INCLUDED IN THE BGGT CLINICAL
COMPONENT SO WE ARE NOT PROCESS
OF FIGURING OUT THAT NOW.
THIS IS VERY IMPORTANT FOR
PEOPLE LISTENING, WE HAVE AN
OPEN PROCESS FOR PEOPLE NOMINATE
DISEASE FOR PARTICIPATION IN THE
BGTC, THAT PROCESS CLOSES
FEBRUARY 18, FOR THOSE WHO ARE
INTERESTED THERE IS A LINK
THERE, YOU CAN FIND THE
INFORMATION ON THE F NIH
WEBSITE.
WE ALSO HAD A WEBINAR COUPLE OF
WEEKS AGO, YOU CAN FIND THAT
WEBSITE AS WELL AND OF COURSE IF
YOU NEED ADDITIONAL INFORMATION
YOU CAN CONTACT US.
NEXT SLIDE.
THINK ABOUT MONOGENIC DISEASE,
PERHAPS THE BROADEST THERAPEUTIC
PLATFORM OF ALL HA WE CAN
IMAGINE WOULD BE GENOME EDITING
WHERE YOU CAN ACTUALLY NOW
ACTUALLY POSSIBLE TO GO IN AND
DESIGN ENZYMES THAT WILL GO AND
CORRECT THE GENETIC
ABNORMALITIES LEADING TO OR
UNDERLYING MONOGENIC DISEASE.
AND SO THIS PROGRAM IS ONE THAT
IS GOING FOR A WHILE UNDER THE
NIH COMMON FUND, THE SOMATIC
CELL EDITING PROGRAM WHERE GOALS
ARE TO LOWER BARRIERS TO NEW
GENOME EDITING THERAPIES BY
ANIMAL MODELS FOR TESTING GENE,
ASSESSING UNINTENDED BIOLOGICAL
EFFECTS OF GENOME EDITING.
BIG COMPONENT ON IMPROVING
DELIVERING MACHINERY, EXPANDING
THE REPERTOIRE AND WE HAD
DISSEMINATION AND COORDINATION
SYSTEM THAT WILL MAKE AVAILABLE
IN THE PUBLIC WHAT WE CALL TOOL
KIT HIGHLIGHTING ALL THE
TECHNOLOGIES DEVELOPED IN THE
SCGE PROGRAM.
PART OF THE REASON WE ARE
TALKING ABOUT IT HERE IS BECAUSE
OF OTHER PROGRAM FUNDED BY
COMMON FUND THE LEADERSHIP
INVOLVES NCATS WORKING WITH
HINDZ.
AND THIS SHOWS THE VARIOUS
NUMBERS OF WORKING GROUP, LIKE
MANY OTHER EFFORTS ARE VERY
COLLABORATIVE.
EFFORT INVOLVING PROGRAM
OFFICERS FROM DIFFERENT PARTS OF
NIH.
COMMON FUND PROGRAMS ARE FIVE
YEARS AT A TIME AND THERE'S
CHANCE FOR ONE ADDITIONAL STAGE
OF THE PROGRAM, A PHASE 2 FOR
ANOTHER FIVE YEARS SO WE DID IN
FACT PROPOSE TO DO A PHASE 2 OF
SEG PROGRAM.
WE HAD TO BRING THAT TO WHAT IS
CALLED THE COUNCIL OF COUNCILS
THAT APPROVES NEW PROGRAMS FROM
OFFICE OF NIH DIRECTOR AND THAT
WAS DONE IN SEPTEMBER OF THIS
YEAR AND ACCEPTED.
PHASE 2 OF THE SCEG PROGRAM
MOVES FARTHER TOWARDS THE RIGHT
IF YOU WILL TOWARDS CLINICAL
TRIALS, WE WILL HAVE PLANNING AT
LEAST FOUR DIFFERENT
INITIATIVES, ONE ON REGULATORY
READY ASSAY DEVELOPMENT, ONE ON
IND ENABLING STUDIES,
DISSEMINATION COORDINATING
CENTER BUT THE MAIN ONE IS
INITIATIVE THREE WHICH WILL
SUPPORT PLATFORM CLINICAL TRIALS
OF GENOME EDITORS.
SO THIS THIRD INITIATIVE IS
FOCUSED ON HOW TO DEMONSTRATE
EFFICIENT CLINICAL TRIAL
STRATEGY TO PERFORM PLATFORM
GENOME EDITING CLINICAL TRIALS.
AND THE GOAL HERE IS TO SUPPORT
GENOME EDITING TRIALS OF MORE
THAN ONE DISEASE AT A TIME, THE
IDEA IS TO USE THE SAME DELIVERY
VEHICLE, THE SAME GENOME EDITOR.
AND THEN THE TRIAL ITSELF THOUGH
WOULD HAVE TO INCLUDE MORE THAN
ONE DISEASE SO YOU WOULD HAVE TO
USE DIFFERENT GUIDE RNAs AND
HAVE DIFFERENT CLINICAL OUTCOMES
AND HERE AGAIN THE QUESTION IS,
THE MAIN MILESTONES ARE HOW DO
YOU GET THAT REGULATORY
APPROVAL.
HOW DO YOU GET THE I INMD.
ONCE IND IS OBTAINED THE PROGRAM
WILL ALSO SUPPORT A SMALL
CLINICAL TRIAL OF THIS GENOME
EDITING CLINICAL TRIAL USING
THIS PLATFORM APPROACH.
TO REALLY NORMALIZE IN
DEVELOPMENT WHAT IS AN OBVIOUS
CLINICAL PLATFORM NOT DISEASE
SPECIFIC TREATMENT.
REQUIRED INTERACTIONS WITH THE
FDA TO INTERACT PRE-IND ET
CETERA AS I MENTIONED YESTERDAY.
THEN FINALLY WRAPPING UP MOVING
TOWARDS COLLABORATIVE ACTIVITIES
INCLUDING SCIENTIFIC MEANS, ET
CETERA.
NEXT SLIDE.
ONE OF THE SCIENTIFIC MEETINGS I
WANT TO HIGHLIGHT HERE IS A
WORKSHOP WE HELD IN
COLLABORATION PARTNERSHIP WITH
NICHD AND NINDS.
A SERIES OF MEETINGS HELD SUMMAR
OF THIS PAST YEAR.
IT HAS TO DO WITH THE
REALIZATION THESE GENE TARGETED
THERAPIES THAT WE HAVE BEEN
SAYING AFFECT MULTIPLE DISEASES
AT A TIME AND POTENTIALLY CAN
IMPACT LARGE NUMBER OF PATIENTS.
WITH MANY DIFFERENT GENETIC
DISEASES.
THE QUESTION IS HOW TO FIND ALL
THOSE PATIENTS HOW DO YOU
IDENTIFY ALL PATIENTS THAT MIGHT
BENEFIT FROM GENE TARGETED
THERAPIES.
GIVEN THAT WAY WE DIAGNOSE
PEOPLE IDENTIFY PATIENTS
INCLUDING THE WAY WE DO NEWBORN
SCREENING IS ONE DISEASE AT A
TIME BUT WE HAVE THERAPIES THAT
ARE THERAPEUTIC PLATFORMS
SOMETHING NEEDS TO CHANGE THERE
TO REALLY GET FULL THERAPEUTIC
BENEFIT OUT OF THESE NEW
APPROACH.
SO THIS WAS A WIDELY ATTENDED
SERIES OF WORKSHOPS 1500 VIRTUAL
ATTENDEES AND WORKING ON WHITE
PAPERS AND PUBLICATIONS TO
SUMMARIZE WHAT WE HAVE DONE AND
HOPEFULLY CONTINUE THIS
DISCUSSION.
A CLASSIC NCATS APPROACH PENDING
DIFFERENT STAKEHOLDERS.
NEXT SLIDE.
LOOKING TO THE FUTURE WE ARE
ALSO WORKING ON ANOTHER WORKSHOP
ON REGULATORY FITNESS IN RARE
DISEASE TRIALS, THAT RESPONSE
SAYING THE FDA CENTER FOR DRUGS,
SAY THE DATES THERE APRIL 7 AND
8 OF 2022.
THE REAL FOCUS IS TO HELP RARE
DISEASE INVESTIGATORS DEVELOP
THE BEST REGULATORY COMPATIBLE
INDs FOR THEIR CLINICAL TRIALS
AND RARE DISEASE SO THE INTENDED
AUDIENCE HERE REALLY ARE
ACADEMIC INVESTIGATORS AND SMALL
PHARMA BIOTECH COMPANIES
DEVELOPING DRUG FOR RARE DISEASE
AS WE ARE DEVELOPING THE PROGRAM
WILL HAVE HIGH CONCENTRATION OF
FDA SPEAKERS AND ORGANIZERS SO
WE WANT THIS TO BE A
COLLABORATIVE EFFORT THAT WOULD
BE OF BENEFIT TO BOTH OUR
INVESTIGATORS AND ULTIMATELY
ALSO TO THE -- OUR REGULATORY
COLLEAGUES.
ALSO OF COURSE AS JONI MENTIONED
GOT RARE DISEASE DAY COMING UP
FEBRUARY 28 OF THIS YEAR,
VIRTUAL OF COURSE GIVEN THE
PANDEMIC VARIOUS SESSIONS AS
LISTED THERE ON DIVERSITY AND
RARE DISEASE RESEARCH TOPIC OF
GREAT INTEREST, MARSHALL
MENTIONED RECENTLY, EXPANDING
OLIGONUCLEOTIDES, DIAGNOSTIC
ODYSSEY TELEHEALTH AND WE THINK
IT WILL BE A GREAT PROGRAM
WIDESPREAD REGISTRATION IS NOW
OPEN, CERTAINLY ENCOURAGE YOU TO
ATTEND THAT.
SO TO WRAP UP HERE THE TAKE HOME
MESSAGE AS ANNE MENTIONED FUTURE
IS WE GOT MANY RARE DISEASES AND
SOME OF THEM HAVE VERY SMALL
NUMBER OF PATIENTS AND FEW
TREATMENTS SO THE COLLECTIVELY
THIS IS A LARGE PUBLIC HEALTH
PROBLEM AND ONE THAT HAS MAJOR
ECONOMIC CONSEQUENCES TO OUR
PUBLIC -- OUR HEALTH SYSTEM IN
THE UNITED STATES.
AND I THINK THAT IS SOME OF THE
BIGGEST INSIGHTS MADE OVER THE
PAST -- LAST YEAR ACTUALLY.
WE ALSO HAVE SOME REALLY
UNPRECEDENTED SCIENTIFIC
OPPORTUNITIES SUCH AS GENOME
EDITING AND GENE THERAPY.
WHERE WE REALLY HAVE THE
SCIENTIFIC UNDERSTANDING TO
TREAT A LOT OF VERY SEVERE
SINGLE GENE DISORDERS BUT THE
LIMITING FACTOR IS NOT SO MUCH
THE SCIENCE BUT OPERATIONAL
LOGISTICAL BARRIERS, AND THAT IS
WHAT WE ARE TRYING TO APPROACH
AND WE WANT TO ENCOURAGE PEOPLE
TO THINK DIFFERENTLY AND ADAPT
ADOPT NEW STRATEGIES SUCH AS
MANY DISEASE AT A TIME, THINKING
HOW WE DEFINE DISEASE TO DESIGN
CLINICAL TRIALS AND PILOT
NON-TRADITIONAL APPROACH SO
OTHERS CAN PICK THEM UP.
I THINK THAT IS IT.
HAPPY TO ANSWER QUESTIONS.
T
>> THANK YOU PJ AND ANNE, REALLY
TERRIFIC.
ALSO UNDERSCORES THE IDEA THAT
THE THREE GOALS THAT WE TALK
ABOUT YESTERDAY, THESE SORTS OF
APPROACH ARE REALLY RIGHT IN
LINE WITH THOSE.
SO I WANT TO OPEN IT UP FOR
DISCUSSION FOR OUR COUNCIL.
I WILL MARSHALL I SEE YOUR HAND
UP FIRST SO GO AHEAD.
>> GREAT PRESENTATIONS, ANNE,
PJ, ANNE WE WILL MISS YOU, PJ I
HAVE KNOWN YOU A COUPLE OF YEARS
AND LOOKING FORWARD TO WORKING
WITH YOU.
IT LOOKS LIKE YOU ARE DOING
PRETTY GOOD COORDINATION WITH
OTHER GROUPS AND AS YOU KNOW
WITH A LOT OF THINGS LIKE
TELEHEALTH FDA TRIALS THESE
THINGS THERE ARE A LOT OF
EFFORTS GOING ON ODYSSEY AS WELL
TO LOOKING AHEAD WHERE DO YOU
SEE AREAS WE NEED TO BUILD FIRST
TO NOT DUPLICATE BUT SECOND PULL
THE COMMUNITY ALONG WITH NIH
LEADERSHIP; WHAT ARE YOUR BIG
OPPORTUNITIES YOU SEE COMING UP
>> I THINK WE HAVE BROKEN GROUND
IN TRYING TO START PILOTS IN A
LOT OF AREAS.
SO THERE'S ROOM FOR GROWTH IN
ALL OF THOSE.
I THINK THERE IS MOST DISEASE
THERE IS VERY LITTLE RESEARCH
GOING ON, CERTAINLY NOT A LOT OF
DUPLICATION.
SO WHAT WE LIKE TO SEE IS THE
ABILITY TO TAKE ON MORE
CLUSTERS, SOME WHICH PJ WAS
TALKING ABOUT WITH THESE MANY
DISEASES AT A TIME APPROACH.
I THINK THAT FROM THE
THERAPEUTICS AREA WE CAN SEAL
THAT ONLINE.
WHAT THERE IS NOT GOING ON RIGHT
NOW IS DIAGNOSTICS SO THERE'S
BEEN A LOT OF ATTENTION ON THE
NEWBORN AREA WHICH IS FANTASTIC
AND THERE IS PROGRESS THERE
ININCLUDING STEVEN KING AND
OTHER PEOPLE BUT WHAT ABOUT
OLDER PEOPLE L NOT IDENTIFIES BY
OLDER WE ARE TALKING TWO TO
FIVE-YEAR-OLD SO NOT OLDER BUT
THERE HASN'T BEEN ATTENTION
THERE SO WE ARE TAKING MORE INTO
THAT.
BUT I DON'T THINK THE NEEDLE HAS
MOVED THERE QUITE AS MUCH.
SO HOPING TO CALL MORE
ATTENTION.
>> ARE YOU -- ON DIEG NOIS
NOSSICS AND -- DIEG NOICS AND
RARE DISEASE?
THAT'S A A COLLABORATIVE GROUP
THAT HAS LOTS GOING ON
>> WE HAVEN'T YET BUT THAT IS A
REALLY GOOD IDEA PARTICULARLY AS
WE START TO GET PROJECTS FUNDED
AND WE HAVE RESULTS TO SHOW AND
SHARE THAT WOULD BE A GOOD
OPPORTUNITY.
>> MAYBE FOLLOW-UP ON MARSHALL'S
QUESTION.
I THINK AS WE HAVE SEEN, WE
CERTAINLY HAVE ENGAGEMENT WITH
THE FDA BOTH CBER WHICH IS
REALLY WONDERFUL, ONE AREA I
THINK ABOUT THESE DAYS AND WE
HAVE HIGHLIGHTED THIS, IS THE
ISSUE OF DIVERSITY AND HOW WE
DEAL WITH DIVERSE POPULATIONS IN
RARE DISEASES AND CLINICAL
TRIALS GETTING THESE ADVANCES TO
AS MANY PEOPLE AS CAN POSSIBLY
BENEFIT FROM THEM.
>> MATTHIAS.
>> CONGRATULATIONS, MUST BE VERY
GRATIFYING TO SEE WHERE ORDR HAS
GONE WHICH CREATE EXCITING TIMES
YOU CAN HAND -- REALLY A
PLEASURE TO WORK WITH YOU AND PJ
HAPPY TO SEE Y'ALL LOOK LOOKING
FORWARD TO EXCITING TIMES, YOU
ARE LOOKING OUTSIDE THE NCATS,
WORKING WITH WITH F NIH, A LOT
OF THE MOST INNOVATIVE FORCES TO
COME BOTH FROM ACT DEEM Y AND
ENTITIES.
AND WOULD STRONGLY ENCOURAGE
THAT AND F NIH IS A VERY
EFFECTIVE MEK ANYMOREFFECTIVE MECHANISM AN D KUDOS TO
GO THERE, ENVIRONMENT THERE IS.
KEEP YOUR EYES OPEN AND I THINK
YOU DO BEYOND GENE EDITING AND
THERE IS GUIDANCE CONCERNING SI
RNAs, THERAPEUTICS ARE MOVING
TO THE CLINIC.
THIS IS AN INCREDIBLE TIME WHERE
TIME WINDOW FROM IDENTIFYING TO
THERAPEUTIC STRATEGIES CAN BE
CUT DOWN TO MONTHS NOW AND THERE
IS ONE OF THE KEY FEATURES WE
DISCUSS 25% GOAL, JONI PUT IN
FRONT OF US, IS ACTUALLY
POTENTIALLY REACHABLE AND WANT
TO ENFORCE THE CONCEPT IF YOU
CAN BUNDLE STRATEGIES IF THERE
ARE COMMON TRIGGERS YOU CAN PULL
TO REVERSE STABILIZE DETAIN
FUNCTION IT MIGHT BE ONE OF THE
AREAS, MANY OF THESE INNOVATIVE
TOOLS CAN CONTINUE TO DO AND
THEN VERY MUCH LOOKING FORWARD
LATER THIS AFTERNOON TO DISCUSS
STEPS GOING FORWARD.
CONGRATULATIONS TO BOTH OF YOU.
>> THANK YOU.
>> THANK YOU FOR THE CHAT LINK
TO FDA GUIDANCE DOCUMENTS, GREAT
TO HAVE.
>> THANKS TO YOU FOR YOUR
LEADERSHIP IN ALL THESE
DIFFERENT PROJECTS.
I ALSO WANT TO EXTEND THANKS TO
YOUR TEAM, THERE HAVE BEEN SOME
HEROIC EFFORTS ON PART OF YOUR
TEAM MEMBERS THAT YOU TALKED
ABOUT.
FIRSTHAND, ERIC SAID WHO
NAVIGATED DATA WITH REGARDS TO
BURDEN DATA AND ICD DATA THIS
YEAR AND TIINA URV WHO LED THAT
SUMMAR WORKSHOP SERIES.
WHICH WAS HERDING A LOT OF CATS
OVER MONTHS AND NOW STILL DOING
THE SAME THING AS PUBLICATION
COME OUT SO THANK YOU TO THE
ENTIRE ORDR TEAM WORKING ON
BEHALF OF (INAUDIBLE).
APPLYING RESOURCE AS BUT MOVE
ONE OF YOUR PROJECTS FORWARD AND
THEN QUESTION ABOUT ONE OF THE
OTHERS.
ONE IS WITH RESPECT TO THE
MEETING YOU ARE WORKING ON THERE
IS EFFORT IN THE COMMUNITIES
BEEN ENGAGED THE LAST YEAR AND
ANNE PARTICIPATED IN THIS, WHERE
WE WENT THROUGH COLLECTIVELY ALL
THE GUIDANCES AND FDA PUT OUT,
RELATED TO THE INTEGRATION OF
PATIENT EXPERIENCE AND PATIENT
EXPERIENCE DATA.
ACROSS THE AGENCY.
AND ASSESS ACROSS THE MEDICAL
PRODUCT DEVELOPMENT LIFE CYCLE.
AND WE HAVE NOW A GUIDE THAT
WILL BE COMING OUT NEXT WEEK.
WE MET WITH THE FDA TWICE
THROUGHOUT THAT PROCESS WITH THE
AGENCY RELATED TO THAT, SO A
NICE JUMPING OFF POINT HIKING
ABOUT PLANNING, AS WELL AS MANY
PARTICIPANTS IN THOSE ROUND
TABLE MAKE GOOD SPEAKER
SOMETHING TO THINK ABOUT AS YOU
ARE PLANNING FOR THAT MEETING.
THE ZEBRA TRIGGER IS I HEARD YOU
I LOVE THIS PROJECT AND I WILL
HELP CLOSE THE DIAGNOSTIC GAP WE
KNOW IN OUR BURDEN STUDY WE
FOUND IS ABOUT SIX YEARS,
INCLUDES VISITS TO 17
SPECIALISTS IN THOSE SIX YEARS
WHICH IS REALLY MIND BOGGLING
AND ALSO WHEN YOU THINK WHO IS
NOT REPRESENTED IN THAT DATA IS
REALLY STRAIGHT GAME.
MY QUESTION AS YOU THINK ABOUT
THAT EFFORT ONE QUESTION I HAD,
ARE YOU WORKING WITH THE CDC AND
OTHER AGENCIES, AND PROFESSIONAL
SOCIETIES LIKE AAP OR ACMG,
NURSE PRACTICE EVERYTHING, PA
SOCIETIES NHDC AS YOU THINK NEXT
STEPS, THAT SEEMS TO ME BASED
SOMETHING NCATS PULL SON SOR
SHAH AROUND -- CONSORTIA AROUND
TALKING ABOUT WHAT TO DO NEXT
WITH THE DATA THEY ARE
COLLECTING.
>> WE ARE NOT WORKING WITH THESE
GROUPS YET.
BUT I DO THINK THAT'S A GREAT
SUGGESTION AND MAYBE SIMILAR TO
WHAT MENTION WITH MARSHALL, WE
ARE JUST EM BASHING ON THESE
INCLUDING WORKING WITH ANOTHER
DATA ANALYTICS CONTRACTOR TO TRY
TO TEST OUT SOME OF THESE THINGS
WE HAVE IDENTIFIED AS WELL AS
FUNDING A FEW GRANTS TO TRY TO
DEVELOP THESE STRATEGIES AS WE
GET MORE DATA AROUND THIS AND
THINGS THAT ARE ACTIONABLE WOULD
BE A GOOD TIME TO GO TO THESE
GROUPS TO SEE IF WE CAN'T TEST
OUT IN DIFFERENT ENVIRONMENTS
AND GET FEEDBACK.
SO THOSE ARE GREAT SUGGESTIONS.
>> THANK YOU.
>> BECKY.
>> GOING TO TAKE THIS A LITTLE
DIFFERENT AREA.
ONE THING I DIDN'T SEE
HIGHLIGHTED AND CERTAINLY A
MAJOR SET OF CONCERNS FOR
INDIVIDUALS WHO LIVED WITH A
RARE DISEASE, PARTICULARLY RARE
DISEASES HAD SIGNIFICANT IMPACT
ON ABILITY FOCUS ON A HOST OF
OVER CO-MORBID CONDITIONS THAT
OCCUR OR CO-MORBID SYMPTOMS THAT
OCCUR WITH THIS IS REALLY A
FOCUS ON IMPLEMENTATION SCIENCE.
WHERE MOST OF THE FOCUS TO DATE
HAS BEEN MUCH MORE ON CHILDREN
BUT WHEN YOU LOOK LONGITUDINALLY
ACROSS LIFE COURSE WHAT YOU FIND
IS THAT THOSE INTEGRATED SYSTEMS
OF SUPPORT THAT OCCUR ONCE
SOMEONE FINALLY GETS DIAGNOSIS
ARE NOT SUSTAINED AS YOU MOVE TO
THE ADULT YEARS AND EVEN ELDERLY
YEARS AND LIFE SPAN MAY NOT BE
SIGNIFICANTLY IMPACTED SO JUST
ENCOURAGE AS YOU MOVE FORWARD TO
THINK ABOUT THAT WHOLE
TRANSLATIONAL SPECTRUM.
AND THAT IMPLEMENTATION HOW TO
SUPPORT ACTIVITIES WHAT RESEARCH
SHOULD WE DO TO UNDERSTAND THE
BEST WAY TO LIVE MOST
EFFECTIVELY WITH THE RARE
DISEASES.
THAT WON'T YET HAVE A --
>> THANK YOU, KRISTINA.
MANY OF YOU KNOW THIS IS ONE OF
MY SOAP BOX ISSUES.
SO I KNOW THEY ARE VERY FAMILIAR
WITH THIS MY FAMILY WENT THROUGH
IS INSANE GIVEN I'M HERE ON THIS
COUNCIL WITH ALL OF YOU TWO
BLOCKS FROM THE NIH AND IT WAS
STILL A HUGE ODYSSEY FOR US TO
GET CHARLOTTE'S DIAGNOSIS.
I SPENT THE DOCUMENT IN THERE I
SPOKE ABOUT IT AT THE RESEARCH
AMERICA SUMMIT.
YOU CAN READ OR WATCH THE VIDEO.
WHAT IS CHALLENGING IS MAKING
SURE FOLKS ON CAPITOL HILL HAVE
THE RIGHT EDUCATION AND
UNDERSTANDING ABOUT WHAT THE
PROBLEM REALLY IS.
THIS SOMETHING ANNIE AND
MARSHALL AND MANY HAVE BEEN
WORKING ON YEARS NOTICE POINT.
AND I LOVE WHAT ANNIE WAS SAYING
ABOUT POTENTIALLY CONVENING
SMOFTS MEDICAL SOCIETIES LIKE --
SOME OF THE MEDICAL SOCIETIES
WHICH IS WORKING ON EDUCATING
HERE, BUT RIGHT NOW Y'ALL
PROBABLY SAW THINGS HARD WORK ON
EVERY LIFE AND ASSISTANCE FUND
AND BUNCH OF O OTHER GROUPS IN
CURES 2.0 THERE IS LANGUAGE
THERE FOR COVERAGE OF GENOMIC
SEQUENCING.
IT WAS A THREE YEAR BATTLE, TO
ENSURE THAT THAT LANGUAGE WHICH
AGAIN IS HOUSE BILL, COVERS
WHOLE GENOME WHOLE EXOME AND
PANELS.
THE PRINCIPLE BEING CLINICS
SHOULD HAVE THE DISCRETION TO
ORDER WHATEVER TESTS THEY DEEM
FIT AND SHOULDN'T BE SPENDING
THEIR TIME SEEKING INSURANCE
COVERAGE FOR THOSE TESTS.
ON THE SENATE SIDE TR IS
EXCLUSIVE TO WHOLE GENOME
SEQUENCING AND I HEARD NHGRI
WILL BE PART OF THAT
CONGRESSIONAL BRIEFING PANEL.
SO I THINK IT WOULD BE REALLY
HELPFUL IF NIH AND NCATS AND
OTHERS COULD TAKE A LEADERSHIP
ROLE IN EDUCATING WHAT IS THE
SITUATION WE HAVE NOW, WHAT ARE
YOU HEARING FROM CLINICIANS, AND
WHAT IS THE NEED.
WE KNOW IT WOULD BE IDEAL TO
COVER THE BEST POSSIBLE TEST,
AND IF MONEY WERE NO OBJECT ET
CETERA, ET CETERA BUT THE
REALITY IS FOR THE PATIENTS WE
JUST WANT THE FASTEST POSSIBLE
DIAGNOSIS IN OUR INDIVIDUAL
GENETICIST KNOW THE BEST WAY TO
GET THERE.
THEY SHOULDN'T HAVE THEIR HANDS
TIED WHEN IT COMES TO OBTAINING
DIAGNOSES AND THE COST OF
SEQUENCING WHILE IN THEORY HAS
COME WAY DOWN THE COST TO
PATIENT AND SYSTEM IS MUCH
GREATER.
SO WE NEED THE MAKE SURE THAT
ACCESS IS THERE AND CLINICS HAVE
DISCRETION FOR TESTS THEY DEEM
FIT AND WE ARE NOT LENLTS LATING
ANY PARTICULAR TECHNOLOGIES --
LEGISLATING.
SO THIS IS AN ONGOING ISSUE.
AND THEN JUST REAL QUICK, WHAT
REBECCA SAID ABOUT CLINICAL
SUPPORT MY DAUGHTER IS FIVE NOW,
I HAVE NO IDEA WHAT WE WILL DO
WHEN SHE BECOMES AN ADULT,
TERRIFIES ME TO THINK ABOUT BUT
THAT COORDINATION OF CARE FOR A
FIVE-YEAR-OLD IS CHALLENGING AND
I SEE MARSHALL NODDING HIS HEAD
BUT I'M SURE CHILDREN'S NATIONAL
IS COMPARING FOR ME BUT WE
ACTUALLY FINALLY GOT INTO THE
COMPLEX CARE PROGRAM THERE FOR
CHARLOTTE, WHICH IS HUGE BECAUSE
WE ARE SEEING -- DIAGNOSED BY
MARSHALL'S TEAM IN MET BOLLICS
GENETICS WE ARE NOW BEING SEEN
BY ANDREA GROATMAN IN
NEUROGENETICS AND WE HAVE
CARDIOLOGY DEVELOPMENT, PHYSICAL
MEDICINE AND HA IS JUST
CHILDREN, THERAPIST AT HBCU SO
SON SO THAT COORDINATION OF CARE
EVEN FOR KID CHARLOTTE IS NOT
EVEN MEDICALLY FRAGILE, HE BRAIN
JUST DOESN'T TALK TO HER BODY
CORRECTLY SO SHE IS GOT A LEG UP
ON A LOT OF OTHER KIDS WHO HAVE
FRAGILITY IN ADDITION AND IT IS
UNCREDIBLY CHALLENGING,
BASICALLY A FULL TIME JOB SO I
THINK ACROSS THE BOARD WE GOT TO
FIGURE OUT THAT COORDINATION OF
CARE.
AND IT IS NOT JUST A MEDICAL
SYSTEM BUT IT IS THE EDUCATION
SYSTEM.
BECAUSE KIDS ARE RECEIVING ALL
THESE THERAPIES, IN THE ACADEMIC
SETTING AS WELL.
THEIR WHOLE LIFE SO MY COUPLE OF
COMMENTS.
DIAGNOSTIC IS THE BIGGEST ONE,
IF WE CAN'T DIAGNOSE WE CAN'T
GET CLINICAL TRIALS, THERAPIES
SO THAT S TO ME IS NUMBER ONE.
>> I WILL INTERRUPT AND THROW IN
AN AMEN.
>> WHILE IN COMPLETE AGREEMENT
WITH EVERYTHING YOU SAID AND
THANK YOU TO YOU FOR YOUR
ADVOCACY ON THIS ISSUE.
>> I WILL GIVE LAST WORD TO
KELLY AND MAKE SURE WE FOLLOW-UP
WITH PAUL'S IN THE CHAT TOO.
KELLY GO AHEAD.
>> THIS IS AMPLIFYING WHAT
KRISTINA SAID AND POINTING OUT,
I LOVED HEARING THAT YOU
DESCRIBED A BIG OPPORTUNITY
FOCUS ON DIAGNOSTICS I REPRESENT
THE LUPUS CLINICAL INVESTIGATORS
NETWORK WE STOOD UP THIS 57
MEDICAL CENTER CLINICAL TRIAL
NETWORK FIVE YEARS AGO AS A
RESOURCE FOR PHARMA AND OTHER
ORGANIZATIONS TO ACTIVATE SO
THEY CAN GET REALLY WELL
CONTROLLED PATIENTS AND WHAT IS
REALLY INTERESTING AS A PATIENT
MYSELF, WE HAVE A POPULATION
WHERE TIME TO DIAGNOSIS IS TEN
PLUS YEARS UNLESS YOU HAVE THE
MOST SEVERE CASE, IT IS A VERY
HETEROGENOUS DISEASE AND PHARMA
WITH DRUG AND OTHER TYPE OF
THERAPEUTIC INTERVENTION, HAVE
RUSHED TO ACTIVATE OUR CLINICAL
TRIAL NETWORK WE CANNOT
INCENTIVIZE FOR THE LIFE OF US,
DIAGNOSTIC COMPANIES TO ACTIVATE
OUR NETWORK.
IT IS A RESOURCE THAT COSTS
ALMOST NOTHING SO IT IS AN
ALMOST FREE ACTIVITY AND IT
COMES WITH 200 PIs OPERATING
UNDER A COMMON IRB SO IT'S
BAFFLED ME AS A PATIENT, THAT WE
CAN'T GIVE AWAY THIS ALMOST FREE
RESOURCE, IT SAYS SOMETHING
ABOUT THE BUSINESS MODEL THAT I
GUESS MAYBE BEGS A POLICY
QUESTION, MAYBE THERE NEEDS TO
BE SOME CONVERSATION AS YOU GUYS
SEE THIS OPPORTUNITY AND WANT TO
HARNESS THIS OPPORTUNITY IN
DIAGNOSTICS, AS KRISTINA SAYS
THERE NEEDS TO BE EDUCATION ON
LOTS OF LEVELS BUT THERE
PROBABLY NEEDS TO BE SOME KIND
OF INDUSTRY INCENTIVES TO SEE
SOME COMMERCIAL VALUE BECAUSE
AGAIN WE ARE OFFERING THIS UP,
PHARMA IS KNOCKING ON THE DOOR
FOR THE CLINICAL TRIAL NETWORK,
WE CAN'T GET DIAGNOSTIC
COMPANIES TO USE IT.
FOR WHAT --
>> I THINK THAT'S VERY FAIR,
THAT DIAGNOSIS ISN'T JUST A RARE
DISEASE ISSUE.
THERE ARE PLENTY OF COMMON
DISEASES THAT'S SPECIALLY IF THE
ATYPICAL PRESENTATIONS ARE
DIAGNOSED TOO.
IF YOU ARE UNDIAGNOSED WE DON'T
KNOW WHAT YOU HAVE SO COULD BE
COMMON OR RARE DISEASE.
SO I THINK THINGS LIKE THIS
COULD HELP REALLY LITERALLY
EVERYONE.
I THINK THAT IS RIGHT.
>> WE BELIEVE THAT A LOT OF OUR
PATIENTS PROBABLY DO HAVE
UNDIAGNOSED RARE DISEASE THAT
JUST HAVEN'T BEEN IDENTIFIED YET
BECAUSE IT IS TOO HETEROGENOUS
TO IN THE FUTURE HAVE IT BE
UNDER THIS ONE COMMON UMBRELLA.
SO THAT IS SEPARATE TOPIC.
>> THANK YOU.
SO MAYBE WE WILL DO ONE MORE
MATTHIAS THEN WE IMMEDIATE TO
MOVE ON TOO.
MATTHIAS.
>> REAL QUICK.
JUST RECOMMENDATION FOR
CONTINUING NOT TO LOSE FOCUS,
RARE DISEASE SYSTEM NO -- AND
NCATS IS ACTIVE IN IRDRDC AND I
WANT TO ENCOURAGE YOU DESPITE
SOME COST FROM THE HILL THAT WE
CANNOT HAVE INHIBIT -- WHICH IS
THE (INAUDIBLE) WE ENCOURAGE I
KNOW PJ HAS LEADERSHIP FUNCTION
WITH IRDRC AND AT LEAST CONTINUE
THAT WORK AND SEND CLEAR
MESSAGES TO OUR SCIENTISTS IN
THE TRENCHES, THAT WE ARE
ENCOURAGE OBVIOUSLY IN THE
FRAMEWORK WHICH IS PROVIDED BY
LEGAL GUIDANCE TO US THAT WE ARE
ENCOURAGED TO CONTINUE TO
ADVANCE RARE DISEASE IN GLOBAL
MANNER, THIS IS A SENSITIVE
ISSUE, THAT IS WHY I PUT IT UP
TO THIS FORUM, VERY MUCH
APPRECIATE HIGH LEVEL CONTINUED
EFFORTS FROM NCATS IN THIS
SPACE.
>> THANKS, MATTHIAS.
I KNOW MARSHALL I DON'T WANT THE
SPEAK FOR YOU BUT I KNOW YOU
ECHO THAT SENT M AS WELL.
GOOD POINT.
AND WE WILL CONTINUE TO DO THAT.
>> SO MANY ACTUAL EFFORTS AND WE
CANNOT AFFORD TO WASTE A SINGLE
PATIENT TO HELP ADD TO THE
KNOWLEDGE WE HAVE, MOVING THESE
FORWARD.
IT IS REALLY A GLOBAL EXERCISE.
>> THANK YOU.
BEFORE WE MOVE ON TO THE CONCEPT
CLEARANCE PAUL HARRIS ASKED A
QUESTION ABOUT GARD 2.0 AND WHEN
THAT IS COMING OUT.
ANNE AN OVERVIEW OF THAT TIME
FRAME.
>> THE TEST SITE IS UP NOW YOU
CAN ACCESS NOW.
WHEN WE WILL BE ABLE TO FULLY
LAUNCH 2.0 DEPENDS A LITTLE BIT
ON THE EXTENT OF WHAT FEEDBACK
WE GET AND WHAT NEEDS TO BE
FIXED.
WE HOPE IT WILL BE IN THE NEAR
TERM RATHER THAN THE LONGER TERM
BUT WE ARE CONTINUING TO LOOK.
>> THANK YOU.
YOU WILL CONVERT SPANISH AS
WELL?
I CHECKED OUT THE VERSION
AVAILABLE ON THE WEBSITE AND IT
LOOKS GOOD BUT IT HAS HOLES AND
I WAS WONDERING ABOUT THE USER
EXPERIENCE TESTING AS WELL AS
THE MULTI-LINGUAL.
>> IT HAS SOME HOLES FOR THE
INITIAL TEST LAUNCH, IT IS
ENGLISH ONLY BUT THE PLANS FOR
THE SPANISH ARE THERE.
>> OKAY.
THANKS.
>> WITH THAT WE ARE A LITTLE
BEHIND TIME BUT OKAY THIS IS
GOING TO WORK FLUENTLY INTO
CONCEPT CLEARANCE BECAUSE IT
DOES HAVE TO DO WITH RDCRN AND
PROJECTS WITHIN THAT.
ANNE ARE YOU GIVING A BRIEF
OVERVIEW BEFORE TIINA TAKES
OVER?
GO AHEAD.
>> ANOTHER TAG TEAM.
SO I JUST SHOWED Y'ALL THIS SO I
WON'T SPEND TIME ON IT BUT IT IS
AGAIN JUST TO PUT THIS IN
CONTEXT THE RDCRN IS OUR LARGEST
RESEARCH ARMS BUT FITS THIS
LARGER PICTURE OF TRYING TO
IMPROVE THE RESEARCH ENVIRONMENT
FOR PATIENTS.
NEXT PLEASE.
SO JUST BEFORE WE SHOWED THIS
BEFORE AS WELL, THIS IS KIND OF
A GRAPHIC OF THE CURRENT RDCRN 4
AND BIT OF A BUSY SLIDE BUT HERE
ARE THE 20 CONSORTIA, YOU CAN
APPRECIATE THEY ARE VERY DIVERSE
YET THEY MANAGE TO WORK TOGETHER
EXTREMELY WELL TO SHARE SNOJ AND
INFORMATION AND SHARE
EXPERIENCES BUT ALSO A
COLLABORATION WITH TEN NIH
INSTITUTES AND OFFICES RESEARCH
CLINICIANS ACADEMIC MEDICAL
CENTERS AS WELL AS LEADERSHIP
THAT IS SHOWN BY PATIENTS AND
PATIENT ADVOCACY GROUPS.
INSTITUTES ARE ALL LISTED THERE
AT BOTTOM.
NEXT PLEASE.
SO WE WILL BE TALKING ABOUT TWO
PROGRAM COMPONENTS WE DISCUSS AS
PART OF THE RDCRN, SHOWN UP IN
PREVIOUS ITERATIONS, TWO
SEPARATE FUNDING ANNOUNCEMENTS
WHICH IS WHY WE ARE DOING THEM
SEPARATELY.
SO THE FIRST ONE IS FOR THE RARE
DISEASE CLINICAL RESEARCH
CONSORTIA OR THE RDCRC AND OTHER
IS FOR DATA MANAGEMENT
COORDINATING CENTER WHICH IS THE
NAME IMPLIES KIND OF HOLDS THE
NETWORK TOGETHER AND COORDINATES
EFFORTS AS WELL AS DEA.
SO THE -- TIINA WILL BE
PRESENTING THE CONCEPT, AND
SHE'S GOING TO BE GOING -- DOING
TOGETHER BECAUSE GOALS AND
OVERVIEW APPLY TO BOTH CONCEPTS
SO JUST STORE THESE IN YOUR
MEMORY AS YOU ARE LISTENING.
AND THIS WILL THEN BE FOLLOWED
BY INDIVIDUAL CONSIDERATION FOR
EACH OF THE CONCEPTS BECAUSE
THERE ARE SOME DIFFERENCES,
BETWEEN THEM.
SO THERE WILL BE OPPORTUNITY FOR
QUESTIONS AND COMMENTS AFTER
EACH OF THE SEPARATE CONCEPTS.
AND THEY WILL BE VOTED ON
SEPARATELY.
AS WELL.
IF THEY ARE APPROVED BY COUNCIL
THEY WOULD HAVE SEPARATE FUNDING
ANNOUNCEMENTS SO I WANT TO
CLARIFY THAT BEFORE TIINA JUMPS
IN.
NEXT PLEASE.
HAND THIS OVER TO TIINA.
>> THANK YOU VERY MUCH, REALLY
APPRECIATE THE SETTING THE STAGE
FOR WHAT I'M GOING TO BE TALKING
ABOUT, CAN EVERYONE HEAR ME ALL
RIGHT?
SO WHAT I AM GOING TO DO IS LIKE
ANNE SAID I WILL TALK ABOUT THE
RDCR AND CLINICAL RESEARCH
CONSORTIA FIRST AND WE WILL TAKE
SOME QUESTIONS, THEN TALK ABOUT
DATA MANAGEMENT AND COORDINATING
CENTER AND TAKE SOME QUESTIONS.
NEXT SLIDE PLEASE.
SOME WILL BE REDUNDANT SINCE WE
HAD OUR WONDERFUL ORDR
PRESENTATION BEFORE THIS, SO THE
RDCRN WAS ESTABLISHED BY RARE
DISEASE ABLG OF TWOA AND THE
PURPOSE WAS TO -- 2002 AND THE
PURPOSE WAS FOR A COLLABORATIVE
MULTI-SITE PATIENT CENTRIC
TRANSLATIONAL CLINICAL TRIAL FOR
RESEARCH IN RARE DISEASES.
AND IF YOU THINK BACK TO 2002
THERE WAS REALLY NOTHING LIKE
THIS GOING ON.
THIS -- THE STUDY OF THREE
DISEASES OR MORE AT A TIME GOES
ALL THE WAY BACK TO 2002.
SO THIS WILL FOCUS OF ORDR IN
THE RARE DISEASE CLINICAL
RESEARCH NETWORK.
THE GAPS WE TRYING TO FILL IN
THIS PROGRAM IS LACK OF
FOUNDATIONAL TRANSLATIONAL
RESEARCH IN RARE DISEASES, WE
NEED MORE INFORMATION FULLY
DESCRIBES DEES AND FACILITATES
MOVEMENT OF CANDIDATES TOWARDS
TREATMENT.
THERE IS A HIGH COST OF ONE
DISEASE AT A TIME APPROACH, AND
THIS IS IN BOTH TIME AND MONEY
THERE IS A LACK OF STANDARDIZED
HIGH QUALITY DATA IN BROAD DATA
SHARING FOR RARE DISEASES.
SO NCATS PROPOSES CONCEPT TO
ADVANCE DIAGNOSIS MANAGEMENT AND
TREATMENT OF RARE DISEASES BY
FOCUSING ON UNMET CLINICAL TRIAL
READINESS NEEDS THAT WILL MOVE
THE FEERLD OF RESEARCH FORWARD
FROM CURRENT STATE BY
ESTABLISHING MAINTAINING AND
SUPPORTING RARE DISEASE CENTERS
OF EXCELLENCE, NEXT SLIDE
PLEASE.
SO THE OBJECTIVES WE HAVE.
WHAT WE WANT -- TRYING TO
ACCOMPLISH IS REALLY LESSEN RISK
OF FAILURE IN CLINICAL TRIALS BY
BEING WELL PREPARED OR WHAT WE
REFER TO OFTEN AS CLINICAL TRIAL
READY PRIOR TO STARTING A
CLINICAL TRIAL.
WE WANT TO DEVELOP AN EFFECTIVE
AND EFFICIENT RESEARCH
ENVIRONMENT FOR RARE DISEASE
RESEARCH AND WE ARE THINKING OF
THIS AS A RESEARCH COMMUNITY FOR
RARE DISEASE.
WE WANT TO WORK FASTER HOW?
BY ESTABLISHING CONSORTIA OF
INVESTIGATORS AND PATIENT GROUPS
AND HAVING LONGITUDINAL STUDIES
TO DEVELOP A BETTER
UNDERSTANDING OF THE DISEASE SO
WHEN IT IS TIME FOR A CLINICAL
TRIAL, THAT WILL ALREADY BE IN
PLACE.
WE WANT TO WORK IN A COST
EFFECTIVE MANNER REALLY FOCUSING
ON ECONOMIES OF SCALE, BY USING
SHARED TOOLS IN THE WORK
ENVIRONMENT.
WHILE THE DISEASES THAT ANNE
POINTED OUT ARE ALL DIVERSE,
THERE ARE COMMONALITIES ACROSS
ALL THE RARE DISEASES, THAT THEY
CAN BE WORKING ON AS A GROUP TO
ADDRESS.
AND TO TARGET.
ALSO HIGH QUALITY RESEARCH DATA,
AND EMPHASIS ON SCIENTIFIC RIGOR
FAIR PRINCIPLES AND DATA
MANAGEMENT.
IF YOU START WITH GOOD DATA IN
THE VERY BEGINNING OF A STUDY BY
THE TIME YOU GET TO CLINICAL
TRIALS YOU WILL BE BRINGING THAT
STRONG DATA WITH YOU.
WE WANT TO FACILITATE DATA
SHARING AND WORKING
COLLABORATIVELY WITH THE RDCRN
DATA MANAGEMENT COORDINATING
CENTER.
KEY AREAS WE WILL BE WORKING ON
ARE TO CONDUCT STUDIES THAT
PROMOTE CLINICAL TRIAL
READINESS, FOR EXAMPLE, NATURAL
HISTORY STUDIES, DEVELOPING
BIOMARKERS AND DEVELOPING
OUTCOME MEASURES, PROVIDE
RESEARCH ENVIRONMENT THAT
PROVIDES CORE OPPORTUNITIES FOR
STUDENTS IN EARLY STAGE
INVESTIGATORS.
WE REALLY WANT TO MOVE ON THE
NEXT GENERATION OF RARE DISEASE
RESEARCHERS, WE STARTED IN 2002
AND WE LIKE TO SEE THE PEOPLE
COMING THROUGH AND HAVING THEIR
OWN GRANTS.
ENGAGE PATIENT A ADVOCACY GROUPS
AS FULL PARTNERS WITHIN THE
NETWORK AND WE ARE LOOKING FOR
NOT JUST A LETTER OF SUPPORT
MANY THE DOCUMENT BUT REALLY
BRINGING THE PATIENT ADVOCACY
GROUPS TO TABLE WHERE DECISIONS
ARE BEING MADE AND DEVELOP
MAINTAIN A CLOUD BASED RESEARCH
ENVIRONMENT WITH SHARED TOOLINGS SHARED TO OLS
ACROSS NETWORK COLLABORATIONS.
THANK YOU.
THE RDCRN SUPPORTS 20 RARE
DISEASE CONSORTIA THAT STUDY 165
RARE DISEASES, CONDUCTS RESEARCH
AT 358 SITES AND 144 CO-LOCATED
AT CTSA SITES AND WE ARE ALSO IN
12 COUNTRIES.
166 OF THE COALITION OF PATIENT
ADVOCACY GROUPS PARTNERING
MEMBERS OF THE CONSORTIA AND IN
THIS ROUND AFTER RDCRN 4 RAZ WE
CALL IT, TEN OF EXISTING
CONSORTIA WILL SUNSET AFTER 15
OR MORE YEARS OF RESOURCES AND
TEN WILL BE ELIGIBLE TO
RECOMPETE.
SO THE ORDR AND NCATS IS
FACILITATOR AND KOORD NAY TO OF
RARE DISEASE RESEARCH AT THE NIH
AND DISORDERS TOUCH ON MULTIPLE
DIFFERENT INSTITUTES AND THERE
IS INTEREST ACROSS THEM.
SO WE ARE PARTNERS, CLOSE
PARTNERS WITH NINE OTHER NIH
ICs.
THE RDCRN IS ONE OF A KIND
TRANSLATIONAL RESEARCH NETWORK
AT NIH AND WE ESTABLISHED
PARTNERSHIPS ACROSS NIH FOR
MULTI-SYSTEM DISORDERS AS I JUST
MINGED AND WE ARE OFTEN --
MENTIONED AND WE ARE SOLE
SUPPORTERS IN LOW PREVALENCE
DISEASE, AND WE USE -- IT USES
AND ADVANCES MANY DISEASE AT
TIME APPROACH AND HAS SINCE DAY
ONE.
SUCCESS IS MADE IN ADDRESSING
CONSORTIA SPECIFIC GAPS IN
CLINICAL TRIAL READINESS
PUBLICATIONS INITIATION OF
LONGITUDINAL OBSERVATIONAL
NATURAL HISTORY STUDIES.
NUMBERS OF PATIENTS INCLUDED AND
PARTICIPATION OF CLINICAL SITES
IN THE RESEARCH AND THE NUMBER
OF TYPES OF PILOT STUDIES PEOPLE
WHO COME INTO THE NETWORK OR
HAVE IN THE PAST COME IN AT
DIFFERENT PHASES.
SOME DON'T HAVE A LOT OF GROUND
WORK DONE SO THEY ARE STARTING
AT THE VERY BEGINNING.
OTHERS COME IN MIDSTREAM, WHERE
THEY ARE REALLY LOOKING FOR
BIOMARKERS, AND DEVELOPING NEW
TOOLS AND SOME ARE READY TO HIT
THE GROUND RUNNING WITH CLINICAL
TRIALS.
SO WE REALLY HAVE A DIVERSE
GROUP OF NEEDS IN THIS PROGRAM.
IN SUMMARY, THE FOCUS OF THE
RDCRN IS TO ADDRESS UNMET
CLINICAL TRIAL READINESS NEEDS
THAT MOVE THE FIELD FORWARD FROM
ITS CURRENT STATE TO
ESTABLISHMENT AND SUPPORT OF
CONSORTIA FOR RARE DISEASES.
FOR CONSORTIA TO ADVANCE
KNOWLEDGE OF THEIR OWN
INDIVIDUAL GOALS, AND TO
LEVERAGE KNOWLEDGE AND RESOURCES
AVAILABLE WITHIN THE NETWORK AND
THAT IS ONE THING WE HAVE BEEN
EMPHASIZING IN THIS CYCLE AND
WANT TO CONTINUE, IS WE CAN
REALLY LEARN FROM EACH OTHER.
THIS INITIATIVE IS EXCITING
BECAUSE IT IS A PLATFORM THAT
ENABLES FUTURE CLINICAL TRIALS
TO DRAW FROM RESEARCH CONDUCTED
WITHIN THE NETWORK TO BE
CLINICAL TRIAL READY, TO ATTRACT
OTHER GROUPS THAT WANT TO WORK
WITH THEM, AND TO PARTNER.
NEXT SLIDE PLEASE.
SO WE ARE GOING TO TAKE SOME
TIME FOR DISCUSSION, SO THE
GENERAL QUESTIONS WE HAVE FOR
COUNCIL ARE WHAT MIGHT PROVE
THIS INITIATIVE, WHAT ARE THE
KEY POINTS?
BUT WHAT WE REALLY LAKE TO ASK
COUNCIL IS, ARE THERE OTHER
AREAS OF STUDY OR -- THAT THE
RDCRN CONSIDER TO HELP ADVANCE
RARE DISEASE RESEARCH FIELD?
AND HOW DO YOU RECOMMEND
ENHANCING COLLABORATION WITH
OTHER NCATS PROGRAMS?
OPEN FOR QUESTIONS.
>> BEFORE WE OPEN UP I WANT TO
GIVE OPPORTUNITY FOR BECKY AND
ANNIE AND MARSHALL THE CHIME IN.
SO BECKY, DO YOU WANT TO GO
FIRST?
>> BE HAPPY TO.
THANK YOU FOR THAT OVERVIEW OF
THIS CONCEPT AND I'M GOING TO
REITERATE THE SAME ISSUES THAT I
DID BEFORE, THAT ACTUAL HISTORY
STUDIES HAVE REALLY LAID OUT NOT
ONLY KEY ISSUES IN TERMS OF
EARLY DIAGNOSIS AND TREATMENT
OPTIONS, BUT I THINK WHAT THE
LATE RAMIFICATIONS ARE AND
INCLUDING THOSE ISSUES
SURROUNDING KIND OF INTEGRATION
OF HEALTHCARE AND SUPPORT AND
ACTUALLY MORE THE WHOLE AREA OF
SOCIAL SUPPORT.
I THINK THAT THIS WILL BE A REAL
OPPORTUNITY FOR NCATS TO THINK
BROADLY ACROSS AN ENTIRE
TRANSLATIONAL SPECTRUM TO BE
ABLE TO ADDRESS THAT AND BUILD
ADDITIONAL PILOT STUDIES OR
AREAS IN THAT WHICH ARE SO
CRITICAL FOR PEOPLE AND AS A
PARENT OF A YOUNG ADULT NOW,
WITH A RARE DISEASE,
ENDOCRINOLOGIST WHO TAKES CARE
OF PATIENTS WHO ARE ADULTED WITH
RARE METABOLIC DISEASE, THIS IS
THE RECURRING THEME, THAT WE
ADDRESS ON A REGULAR BASIS.
I THINK MY SECOND ISSUE FOR YOU
TO THINK ABOUT AND GOES BACK TO
SOME OF THE COMMENTS MADE
YESTERDAY, BUT IS REALLY DATA
EQUITY AND ACCESSIBILITY.
NOT SURE WHETHER IT REALLY SITS
HERE OR THE COORDINATING CENTER
SO I MAYBE REDUNDANT IN SAYING
IN THE COORDINATING CENTER SO
FIRST OF ALL, EACH OF -- EACH
INDIVIDUAL WHO PARTICIPATE IN
THESE RARE DISEASE I WOULD SAY
EACH INDIVIDUAL WHO DOE NAITS
THEIR DATA, SHOULD HAVE THE
RIGHT TO HAVE B EQUAL ACCESS TO
INFORMATION IN ORDER TO BE NOT
ONLY TO UNDERSTAND THINGS
DIRECTLY RELEVANT TO THEM BUT
THINGS THAT ARE RELEVANT TO
PEOPLE THAT ARE LIKE THEM, TO B TO BE
ABLE GET INSIGHT TO EMERGING.
SO I ENCOURAGE WHEN YOU THINK
ABOUT DATA YOU THINK ABOUT THE
ACCESSIBILITY AND EQUITY FOR
EVERYONE, SHOULD BE STAKEHOLDERS
AT THE TABLE, THAT INCLUDES
FAMILY MEMBERS, AND PATIENTS ALL
THE WAY OUT THE CLINICIANS AND
BROADER SCIENTIFIC COMMUNITY
HELP TO MOVE THESE ISSUES
FORWARD TOGETHER.
I GUESS MY VERY LAST SET OF
ISSUES ARE SEEMS TO BE AWARE OR
OF, WE HEARD SO MUCH IN THE LAST
PRESENTATION ABOUT NEW WAY OF
ACTUALLY THINKING ACROSS
PATHWAYS OR BIOMOLECULAR SHARED
ISSUES, AND YET WHAT I DON'T SEE
IN YOUR CONCEPT IS WHETHER THAT
IS GOING TO BE FOUGHT IN
CENTRAL, THINKING FOR EXAMPLE
GROUPING THINGS NOT BY ORGAN
SYSTEMS BY BRITTLE BONE DISEASE
OR RARE BONE DISEASE, BUT IN
FACT BY SOME OF THE THINGS WE
KNOW ABOUT THAT WE MIGHT BE ABLE
TO ACTUALLY FACILITATE
ADDITIONAL STUDIES.
SO ENCOURAGE YOU TO BROADEN THAT
AND ACTUALLY ASK BECAUSE THAT
WILL MOVE FORWARD UNDERSTANDING
AND REALLY MUCH MORE
EFFECTIVENESS AROUND DIAGNOSIS
AS WELL AS THERAPEUTICS
DEVELOPMENT.
>> THANK YOU, BECK KI.
TIINA, ANY QUICK QUESTIONS TO
THOSE?
>> I CAN COMMENT QUICKLY THAT
THE DATA EQUITY WILL TOUCH ON
THAT, IN THE NEXT GROUP AND TALK
ABOUT IT BECAUSE THAT IS
SOMETHING WE THINK ABOUT
SERIOUSLY.
WE THINK OF A BROAD DEFINITION
WITH THREE RARE DISEASES, IN THE
LAST CYCLE WE HAD THE DEFINITION
OF IF YOU HAVE THREE DISEASES OR
DISORDERS, IF YOU ARE LOOKING AT
A SIMILAR PATHWAY MANY THE
DISEASE THAT FOLLOW ON THE
PATHWAY, WE HAVE A BROAD
DEFINITION HOW GROUPS COME IN
AND CLUSTER WHAT THEY ARE
STUDYING AND HOW.
THANK YOU FOR BRINGING THAT UP,
THAT IS A GOOD POINT AND
SOMETHING WE TAKE SERIOUSLY.
AND ON OCCASION, WE HAVE A
CHALLENGE WITH THAT BECAUSE
SOMETIMES REVIEWERS LOOK AT IT
AT THREE ORGAN SYSTEMS AT A
TIME, THREE DISEASE CLASSES AT A
TIME.
AND TRYING TO BRING ACROSS A NEW
WAY OF THINKING, WORKING TO
ENCOURAGE OTHERS TO THINK THE
WAY WE THINK.
THANK YOU.
>> THANK YOU VERY MUCH.
>> FULL DISCLOSURE, WHEN I --
OFFICE OF POLICY PROGRAM FOR THE
MUSCULAR DYSTROPHY ASSOCIATION,
THIS IS MY FIRST INITIATION, I
SERVED AS THE RAP TO THREE
CONSORTIA, (INAUDIBLE) SO THIS
IS ONE OF MY FAVORITE PROGRAMS
AND ONE THAT HAD A LASTING
IMPACT IN THE COMMUNITY.
MY FIRST COMMENT IS IF I MISSED
IT I APOLOGIZE BUT I THINK THE
PROGRAM IS SCREAMING FOR INFO
GRAPHICS.
AS ANNE WAS GOING THROUGH AND
TIINA TALKING ABOUT TELLING THE
STORY OF THE CONSORTIA, AND YOU
WENT THROUGH METRICS, NUMBER OF
ICs INVOLVE, NUMBER OF PAG.
ACADEMICICS DISEASES COVERED,
NUMBER OF CLINICAL TRIALS,
THERAPIES, ET CETERA, ET CETERA,
I MIGHT SUGGEST CUPFUL O OVER
MEASURES TO TIE TO OTHER THINGS
NCATS WORK OBS THAT MAKE MORE BY
NUMBERS WHAT CONSORTIA
ACCOMPLISHED, BOTH GNASH
MILLIONLY AND GLOBALLY TO THE
POINT MADE EARLIER CONVERSATIONS
BECAUSE THOSE PARTNERS ARE
WORKING ACROSS GLOBE AS WELL.
BUT CAN WE LOOK AT METRICS
AROUND SHORTENING DIAGNOSTIC
ODYSSEY, WHAT THOSE EFFORTS HAVE
DONE AROUND THAT, ANY CONDITIONS
ADDED AS A RESULT OF THE EFFORTS
OF THESE GROUPS. AND THEN HAVE
ANY OF THE RESOURCES THAT HAVE
COME FROM THE CONSORTIA BEEN
LEVERAGED FOR PATIENT FOCUSED
DRUG DEVELOPMENT WORKSHOPS,
ENGAGEMENTS WITH FDA OR CMS.
THIS MIGHT BE SOME OTHER METRICS
BUT I WOULD START DIGGING INTO
AND LOOKING AT AND COUNTING.
MY OTHER COMMENT IS JUST MAKE
MAYBE A QUESTION, WHEN YOU ARE
REALLY SOLICITING AND
DETERMINING WHICH CONSORTIA, IT
IS A COMPETITIVE PROCESS, I KNOW
COMMUNITIES ARE EAGER TO BE
AMONG THEM, HOW DO YOU THINK
ABOUT THE ULTRA RARE
COMMUNITIES, AND IS THERE ANY
PERCENTAGE OF CONSORTIA TO SEE
IN THE ULTRA RARE COMMUNITY OR
IS THAT SOMETHING TO THINK ABOUT
SO MAYBE WE CAN PUT A PIN IN
THAT.
WE SEE UNDER-REPRESENTED,
UNDERFUNDED.
UNDERRESOURCEED.
THE LAST THING AS SOMETHING WHO
HAS BEEN A PAG MEMBER I WAS
STRUCK BY NUMBER OF PAG, I THINK
IT WAS 166 PA DWRKS FOR 20
CONSORTIAS, -- PAGS FOR 20
CONSORTIAS.
ALL ARE NOT EQUAL.
YOU HAD A LOT OF RESOURCES TO
BRING TO BARE AND SOME WITHIN
THE CONSORTIA, I WORK WITH THAT
REALLY WEREN'T SURE HOW TO
ENGAGE AND WHAT TO BRING TO THE
TABLE.
SO ONE OF THE COMMENTS, WE ASK A
LOT OF PATIENT ADVOCACY PARTNERS
WHEN WE ASK THEM TO BE PART OF
SOMETHING.
TAKES TIME BANDWIDTH PERSONNEL
WHICH IS TAKING AWAY FROM THE
BOTTOM LINE OF AN ORGANIZATION
AND WE ARE NOT PROVIDING FUNDING
FOR THAT.
MANY TIMES PEOPLE BRING DATA TO
US WE CAN TALK ABOUT AND BECKY
TALKED ABOUT, WILL THEY ARE
SENDING OUT DISTRIBUTIONS TO
THEIR MAILING LIST, THEY ARE DO
A LOT TO BE GOOD PARTNERS, ONE
QUESTION I WOULD ASK IS HOW
INTENTIONAL ARE WE BEING ABOUT
WHAT BENEFIT THE PA GRKs
DERIVE, BEYOND BENEFIT TO
COMMUNITY, BUT ARE THE PAGs
THEMSELVES COMING FROM THIS
STRONGER BETTER, MORE EQUIPPED
TO ENGAGE WITHIN THIS
ENVIRONMENT.
NCATS IS WELL-POSITIONED TO DO
MENTORING HERE WITH THE PAGs
THAT COME IN AND NOT LEAVE TO
PIs OF THE CONSORTIA TO DO
THAT.
SO THE NCATS TOOL KIT IS A GOOD
PLACE TO START.
AND TO MAYBE EVEN HAVE ALMOST A
AND A HALF GAITION OF THE
RESOURCES AND -- NAVIGATION AND
RESOURCES AND HAVING PEOPLE
IDENTIFY WHERE THEY ARE, TO
IDENTIFY WHAT CAPACITIES AND
RESOURCES THEY HAVE TO BRING TO
BEAR ON THE AIMS OF THAT
PARTICULAR CONSORTIA AND
IDENTIFICATION OF ALL THE PAGES,
I BELIEVE THERE WAS 15 WORKING
WITHIN IT WHO WAS GOING TO BRING
WHAT, COULD THERE BE CONSORTIA
AMONG PAG MEMBERS AND MAYBE
REDUCE SOME OF THE COMPETITION
AMONG THEM AND BRING TOGETHER
PAGES IN SOME WAYS.
MAYBE INTENTIONAL WORK ON WHAT
WE DO FOR THE PAGs PARTNER.
AND THEN WHAT THEY COME AWAY
WITH SO THAT SOMETHING TO THINK
ABOUT BECAUSE THERE'S SO MUCH
ASKED OF OUR PATIENT ADVOCACY
GROUPS TODAY IN THIS DAY AND
AGE.
AND SEEMS TO ME NCATS IS A
WONDERFUL PLACE FOR PEOPLE TO
COME STRONGER BETTER, AND WILL
BE FOREVER SPOKESPEOPLE.
BECAUSE OF THIS RELATIONSHIP.
>> FANTASTIC IDEA.
GREAT.
THANK YOU.
>> THOSE ARE GREAT IDEAS AND I
ESPECIALLY BECAUSE ONE OF THE
IDEAS YOU HAD WAS WITH THE INFO
GRAPHICS, RIGHT NOW WITH THE
LIFE CYCLE WE MADE CHANGES WITH
RDCRN AND THE DNCC AND WITH THE
PATIENT ADVOCACY GROUPS IN HOW
WE APPROACH THINGS HOW WE ARE
DOING THINGS.
SO THE INFO GRAPHICS IS GREAT
BECAUSE THEY ARE REDOING WEB
SITES AND THEY ARE PROCESS OF
DOING THAT NOW SO SHARING IDEAS
WITH THEM NOW CAN GET
IMPLEMENTED EARLIER THAN THE
NEXT CYCLE.
SO WE CAN GO RIGHT INTO THAT.
I LIKE THE SHOUT OUT FOR HOW WE
HELP GET CONDITIONS ON THE --
NEWBORN SCREENING FAN.
WE MADE DIFFERENCES IN HOW WE
ARE WORKING WITH PATIENT AD VO
ADVOCACY GROUPS.
SO THEY ARE BEING SUPPORTED BY
DATA MANAGEMENT AND COORDINATING
CENTER, THEY HAVE A TEAM THERE,
THEY HAVE A STEERING COMMITTEE
OF THAT ARE OWN WHERE EACH
PATIENT ADVOCACY GROUPS PIKS ONE
REP ON THE STEERING COMMITTEE
AND THEY ROTATE OFF EACH YEAR OR
YEAR AND A HALF SO DON'T
OVERBURDEN ONE PERSON.
WHENEVER WE ARE HAVING MEETINGS
TRYING TO FIGURE WHAT PEOPLE
WANT WE ASK THEM WHAT DO YOU
WANT, WHAT DO YOU WANT TO LEARN
FROM, WE KEEP FOCUS ON RESEARCH
BUT WE SAY WE CAN'T DO
EVERYTHING FOR YOU BUT IN THIS
-- WITHIN THE SCOPE OF RESEARCH,
HOW CAN WE WORK WITH YOU.
PROGRAM ESTABLISH MENTORS FOR
NEW GROUPS BECAUSE WE RECOGNIZE
THE FACT THAT YOU MIGHT HAVE
SOMEONE WHO IS SITTING IN THEIR
KITCHEN TABLE IN KENTUCKY AND
THEN YOU HAVE ONES WITH FANCY
OFFICES IN WASHINGTON D.C. OR
NEW YORK.
LETS GROUP AT SAME LEVEL OF
EXPERIENCE LEARN TOGETHER LEARN
FROM EACH OTHER, TRYING TO
ESTABLISH A COMMUNITY WHERE
PEOPLE CAN LEARN FROM EACH OTHER
AND MENTOR EACH OTHER.
BUT IT IS ALSO GREAT, TO BRING
TOOLS TO THEM, WE BROUGHT THE
PAD THE TALK TO THEM WHEN YOU
HAVE QUESTIONS.
WE DON'T UNDERSTAND THE FDA
TIINA, LET'S BRING SOMEONE TO
TABLE SO WE WILL BRING WHOEVER
THEY ASK FOR AND I FEEL THAT IT
IS IMPORTANT THAT WHEN SOMEBODY
-- ESPECIALLY THE PATIENT AD VO
ADVOCACY GROUP LEAVES A MEETING
THEY ARE TAKING SOMETHING
HEADACHE USE AFTER THAT MEETING.
THANK YOU FOR THAT POINT, ANNIE.
>> THANK YOU.
EMPHASIS OF THOSE ACTIVITIES
JUST TO ANNIE'S POINT OF
ENSURING THAT WE ARE DOING EVEN
MORE THINKING ABOUT NAVIGATING
AND COORDINATING IN THOSE
THINGS.
SO THANK YOU.
PETER I SEE YOUR HAND UP BEFORE
MARSHALL.
>> A QUICK COMMENT IN ADDITION
TO WHAT TIINA SAID.
HUE FOR BY BRINGING UP THE TOOL
KIT.
WE TRIED TO STAY ON TIME TO GIVE
PEOPLE A CHANCE TO ASK QUESTIONS
SO WE DIDN'T HIT EVERYTHING WE
DO IN ORDR BUT TOOL KIT IS
IMPORTANT PROGRAM.
FOLLOWING UP ON YOU AND BECKY,
PATHWAYS AND ULTRA RARE, THOSE
TWO THINGS COME TOGETHER
THINKING WAYS TO GROUP DISEASE,
TIINA ALLUDED TO THIS ALSO THE
CURRENT ITERATION OF RDCRN WE
HAVE PATHWAY FOCUSED APPROACHES
INCLUDING CONGENITAL DISORDERS
OF GLYCOSYLATION AND I THINK WE
WILL CONTINUE TO ENCOURAGE
PEOPLE TO THINK ABOUT
ALTERNATIVE GROUPINGS THAT SOME
EXTENT REDEFINE WHAT DISEASE IS
AND CAN ADDRESS ISSUE HOW WE
DEAL WITH I WILL TR WITH ULTRA RARE DISORD ER.
>> MARSHALL.
GO I HEAD.
>> I GO BACK WITH RDCRN BEFORE
IT WAS RDCR IN IN 2000 WHEN
STEVE WAS IN THE BASEMENT
LEADING TO CONSORTIUM AND I WAS
ONE OF THE ORIGINAL PI E FOR ONE
OF THE FIRST UREA CYCLES
CONSORTIUM IN 2004 THAT WILL
FINALLY SUNSET AFTER MANY
CYCLES.
I HAVE BEEN INVOLVED IN
EDUCATION IN THE RDCRN.
SO THE REASON I SAY THIS IS I
HAVE A FAIRLY DEEP BASIS OF
EXPERIENCING THE PROGRAM SINCE
INCEPTION.
I THINK LOOKING ACROSS THE NIH
PORTFOLIO ACROSS ALL CENTERS
THIS IS ACTUALLY ONE OF THE MORE
SUCCESSFUL PROGRAMS.
HOWEVER, THERE ARE SOME THINGS I
THINK BEDEFINITELY NEED TO THINK
ABOUT.
-- WE DEFINITELY IMMEDIATE TO
THINK ABOUT.
LEGACY ISSUES AROUND DATA AND
NETWORKS PUT TOGETHER WITH A LOT
OF TIME AND TREASURE, THAT THE
NIH CANNOT FUND FOREVER NOR
SHOULD IT BUT NOT SURE WE HAVE
GIVEN THOUGHT HOW THE DATA THAT
IS COLLECTED PRESERVED MADE
AVAILABLE SO IT CAN BE CARRIED
FORWARD AND WHAT EFFORTS CAN WE
MAKE FOR THOSE CONSORTIUM TO
HAVING LIFE AFTER.
BECAUSE WE HAVE GOT 20 ALMOST
YEARS OF DATA IN THE UREA CYCLE
AND OTHER GROUPS, THAT IS
SCRATCHING THE SURFACE, AS WE
LOOK AT PATIENT WHOSE ARE
BECOMING ADULTS, PATIENTS
FURTHER SOME OF THE INTERESTING
THINGS YOU FIND THE THINGS YOU
NEED TO KNOW ABOUT DON'T HAPPEN.
UNTIL AFTER.
SO I THINK ONE THING I WOULD
LIKE TO SEE IS A CONCERTED AND
STANDARDIZED APPROACH TO WHETHER
WE INVOLVE ONE OF THE OTHER
NATIONAL PATIENT ORGANIZATIONS
AND DOES THE DATA BECOME
CUSTODIAL THERE AND USEFUL
THROUGH PATIENT A ADVOCACY GROUP,
NUMBER OF POSSIBILITIES FOR
THAT.
DURING MY TIME AS PI WE CARRIED
OVER TEN YEAR PERIOD LEE DRUGS
THROUGH FDA APPROVAL.
WHAT WE FOUND IS THE DATA IN THE
ACTUAL NATURAL HISTORY REGISTRY
WAS NOT UP TO FDA STANDARDS SO
WE HAVE TO CREATE PARALLEL
PROCESS.
WE USE OUR NETWORK BUT NOT ABLE
TO USE THE DATA FROM THE RDCRN.
I WOULD STRONGLY LOOK AT WAYS
WHERE WE CAN BRING FATD FOLKS IN
LOOK AT THE DATA STRUCTURE WE
BUILT BECAUSE ONE OF THE BEST
THINGS ABOUT HAVING THESE IS THE
ABILITY TO BRING NEW TREATMENT.
WE LEARN ABOUT THE DISEASE.
WE ABSOLUTELY DO.
BUT ALSO THIS DATA CAN BE
LEVERAGED AND PROVIDING GOOD
DATA STRUCTURE FOR THOSE AND
LIKE I SAID I KNOW MADE A LOT OF
EFFORTS THAT ARE -- BUT ONE
THING AND THIS OVERLAPS TO THE
NEXT MCC, WHICH IS WHAT CAN WE
DO AROUND STANDARDIZATION OF
TERMS, DATA COLLECTION,
INSTRUMENT TOOLS, WHAT NEW ONES
NEED TO BE BROUGHT FORWARD PJ
YOU TALKED ABOUT SOME OF THE
PROJECTS YOU GOT TO LOOK AT
DEVELOPING NEW TOOLS, YOU RDCRN
IS A GREAT PLACE TO DO THAT, YOU
GOT YOURSELF CAPTIVE AUDIENCE
FOR DOING SOME OF THOSE THINGS.
SO I REALLY LIKE TO SEE MORE
WORK LIKE THAT.
LAST COMMENT.
ONE THING WE FOUND IS A
GEOGRAPHIC COMPONENT TO THE
RDCRN.
PATIENTS CLOSE TO ASSISTANTER
TYPICALLY GOT TO PARTICIPATE.
IT WAS A TIGHT BURDEN OF
PARTICIPATION FOR FAMILIES IN
MORE REMOTE AREAS.
ONE THING I WOULD LOVE THE SEE
US DO, THERE IS ACCESS TO EQUITY
ISSUE HERE TOO.
PATIENTS IN UNDERSERVED AREAS,
WHO ARE REMOTE, HOW DO WE
STRUCTURE RDCRN PATIENT SO -- I
HATE TO CALL RDCRN IN LIGHT, ARE
WILL PATIENTS WHERE WE PULL IN,
ADD DATA INTO THAT, PATIENT IN
DATA WHICH WE ARE SEEING MORE
AND MORE WITH GOOD RELIABILITY.
CAN WE WE USE THOSE METHODS NOT
ONLY TO LOWER COSTS FOR THESE
STUDIES CENTER FOCUSED IS YOUR
MOST EXPENSIVE BUT CROWD
SOURCING THAT TO THE PATIENT AND
FAMILIES, SO IT IS EASIER FOR
THEM TO PARTICIPATE, THERE IS
LESS BURDEN OF PARTICIPATION IN
THAT.
BECAUSE AS ANNE AND REBECCA BOTH
KNOW PARTICIPATING IN THESE
STUDIES IS A HIGH BURDEN.
AND WE SHOULD BE LOOKING AT
CONCRETE WAYS TO REDUCE THAT
BURDEN AND I THINK THAT SHOULD
BE ONE GOAL IN RDCRN, REDUCE
THAT BURDEN WHILE MAINTAINING
QUALITY.
LOVE THE RDCRN BRNS A FAN FOR A
LONG TIME BUT THERE'S SOME
THINGS WE CAN DO.
>> GREAT.
>> THANK YOU, MARSHALL.
>> TIINA, PLEASE.
>> SORRY PJ YOU GO FIRST.
>> ON YOUR POINT MARSHALL THE
SHARED MICROETIOLOGIES
SPECIFICALLY CALLED OUT DISEASES
UNDER STUDY BY RDCRN IN BOTH
AWARDS ESSENTIALLY INVOLVED VERY
CLEARLY DISEASES UNDER STUDY BY
RDCRN IN TIGHT CLAN RATION WITH
RDCRCs, I'M NOT THINKING SO
MUCH ABOUT THE MISSOUR MOLECULAR
DIAGNOSIS, LONG TERM CLINICAL
HISTORY DATA MANY WAYS WE CAN
IMPROVE ACCESS FOR THAT.
>> MARSHALL I WAS GOING TO SAY
THAT IS GOING TO COME UP IN THE
NEXT -- WITH THE DMCC AND WHAT
WE HAVE DONE IN THIS CYCLE AND
WHAT WE PLAN ON CONTINUING DOING
IN THE NEXT CYCLE.
>> MAYBE THAT IS A GOOD SEGUE, I
WANT TO MAKE SURE WE HAVE
COVERED THIS TOPIC ARE THERE ANY
OTHER DISCUSSION POINTS HERE?
WHAT WE ARE GOING TO DO IS NOT
VOTE YET, WE ARE GOING TO DO
NEXT ROUND HERE AND THEN VOTE
FOR BOTH OF THESE AT THE END.
IS THAT RIGHT?
I SEE YOUR HEAD NODDING.
I DON'T HEAR YOU BUT I SEE YOUR
HEAD NODDING.
IN THAT CASE --
>> WE CAN DO IT THAT WAY.
KEEP GOING.
>> TIINA, DO CONCEPT NUMBER TWO,
THANK YOU SO MUCH.
>> I WANT TO THANK MARSHALL AND
ANMY FOR THE REMARKABLE
COMMENTS.
THANK YOU VERY MUCH.
NEXT COMMENT IS DATA MANAGEMENT
AND COORDINATING CENTER.
SO THE OBJECTIVE HERE IS TO
PROVIDE ADMINISTRATIVE CLINICAL
RESEARCH DATA MANAGEMENT AND
REGULATORY SUPPORT TO INDIVIDUAL
RDCRCs AND THE RDCRN.
WE WANT TO PROVIDE A CENTRALIZED
CLOUD BASED RESEARCH ENVIRONMENT
WITH SHARED RESOURCES FOR THE
RDCRN PARTICIPANTS.
WANT TO COORDINATE CROSS NETWORK
ACTIVITIES FOR THE RDCRN SUCH AS
WORKING GROUPS AND SPECIAL
INTEREST GROUPS ON A VARIETY OF
TOPICS.
THEY ARE TO SERVE AS CONDUIT OF
INFORMATION RELATED TO THE RARE
DISEASE RESEARCH BEING CONDUCTED
WITHIN THE NETWORK TO BOTH
RESEARCH COMMUNITY AND THE
GENERAL PUBLIC.
THE KEY AREAS THAT WE ARE
FOCUSED ON IS TO PROMOTE
CLINICAL TRIAL READINESS AS I
STATED BEFORE AND SUPPORT AND
FACILITATE CROSS CONSORTIA
COLLABORATION.
ONE OF OUR PRIMARY FOCUSES IS TO
ESTABLISH PROMOTE STANDARDS AND
GOOD DATA PRACTICES, EMPHASIZING
SCIENTIFIC RIGOR, FAIR DATA
PRINCIPLES AND DATA SHARING.
WE ALSO WANT TO DEVELOP MAINTAIN
A CLOUD BASED RESEARCH
ENVIRONMENT WITH SHARED TOOLS.
SO CURRENTLY THE DMCC HAS USERS
FROM FIVE CONTINENTS LOOKING TO
TAP INTO THE OTHER CONTINENTS
THEY PROVIDE SERVICES TO OVER
2000 AUTHENTICATED USERS.
THEY ARE BUILDING THESE TOOLS
FOR THE NETWORK SO RIGHT NOW
THERE'S 12 TOOLS FOR SHARED MET
WORK USE INCLUDING BIOSPECIMEN
TRACKING TOOLS, PEDIGREE TOOLS R
STUDIO AND THIS NUMBER IS
GROWING.
I'M NOT GOING TO READ THESE
NUMBERS, THERE'S 55 PROTOCOLS IN
RED CAP DATABASES, AGAIN USING
RED CAP THEY ARE DEVELOPING
STANDARDS, THERE ARE LOTS OF
FORMS LEGACY FORMS, VARIABLES
AND CURRENTLY THEY HAVE 1.5
TERABYTES OF DATA IN BOX.
AND THEY ARE ALL PUTTING THEIR
DATA INTO ONE ENVIRONMENT OR
MAJORITY OF THEM ARE PUTTING
DATA INTO ONE ENVIRONMENT.
THE RDCRN IS AGAIN ONE OF A KIND
TRANSLATIONAL RESEARCH NETWORK.
THE SUCCESS OF THE PROGRAM IS
ONE IN WHICH INVESTIGATORS ARE
WORKING IN A RESEARCH
ENVIRONMENT OR I LIKE TO THINK
OF IT AS A RESEARCH COMMUNITY,
ESTABLISHED BY A NETWORK USING
TOOLS MADE AVAILABLE.
SUCCESS WILL ALSO BE MEASURED BY
SUCCESS OF INDIVIDUAL RDCCs
AND USE AND ACCEPTANCE OF DMCC
HOSTED COLLABORATIVE TOOLS AND
ACTIVITIES.
NEXT SLIDE.
SO THE ROLE OF THE DMCC IS
SUPPORT THE RDCRN CONSORTIA AND
FACILITATE THEIR ABILITY TO WORK
FASTER, AGAIN THEY ARE
COORDINATING THE WORK OF
CONSORTIA INVESTIGATORS AND
PATIENT GROUPS, THEY FACILITATE
LONGITUDINAL STUDIES TO DEVELOP
A BETTER UNDERSTANDING OF RARE
DISEASES AND THIS IS ONE PLACE
WITH THE DATA STANDARDS AND IT
IS LIKE I SAID WHEN A STUDY
COMES IN, THEY START DEVELOPING
DATA STANDARDS DATA PRACTICES SO
WHEN THEY GET WHERE THEY HAVE A
FAIR NUMBER AND AMOUNT OF
LONGITUDINAL DATA THEY DON'T
HAVE TO REPLICATE.
WHEN THEY GO TO FDA THEY
SHOULDN'T HAVE TO GO BACK AND
REPLICATE THE DATA OR REDO THE
STUDY OR RE-EVALUATE THINGS.
THEY WORK IN A COST EFFECTIVE
MANNER BY PROVIDING SHARED TOOLS
AT WORK ENVIRONMENT CONSORTIA
USE SO INVESTIGATORS ARE USING
FUNDS THEY GET FROM THE GRANTS
NOT TO BUY LICENSES TO USE BUT
PUTTING TOWARDS A SCIENCE.
HIGH QUALITY RESEARCH ON AND
DATA AND REALLY EMPHASIZING
SCIENTIFIC RIGOR, FAIR
PRINCIPLES, AND BROAD REGULATORY
STANDARDS, I CAN'T EMPHASIZE
THAT ENOUGH.
THAT THAT'S WHAT WHICH ARE
FOCUSING ON.
AND ALSO FACILITATE DATA
SHARING.
BY PROVIDING DATA SHARING
ENVIRONMENTS THAT GET ACCESS AS
APPROPRIATE FOR THE BROADER RARE
DISEASE RESEARCH COMMUNITY AND
OTHERS.
AN EXCITING PART OF THE DMCC FOR
THIS COLLABORATION IS OUR
COLLABORATION WITH INFORMATION
TECHNOLOGY AND RESOURCES BRANCH.
I WOULD LIKE TO CALL OUT SAM
MICHAELS AND HIS TEAM FOR THE
GREAT WORK THEY HAVE BEEN DOING
WITH US TO ESTABLISH THIS.
AND WHAT THEY REALLY DO IS
DEVELOPING A TOOL -- TWO PRONG
CLOUD BASED WORK SPACE FOR RDCRN
RESEARCHERS SO FIRST AN
OPERATIONAL ENVIRONMENT WHERE
INDIVIDUAL CONSORTIUMS WORK
IMAGINE YOUR SPACE IN THE CLOUD
YOU HAVE ROOM FOR YOUR
CONSORTIA, DATA COLLECTED THERE
ALL YOUR INFORMATION HAVE,
THERE'S TOOLS YOU CAN USE IN
THIS ENVIRONMENT SHOULD YOU
CHOOSE TO AND IT IS THE ACTIVE
OPERATIONAL SITE.
THE SECOND ENVIRONMENT THAT WE
ARE IN THE PROCESS OF BUILDING
RIGHT NOW IS THE DATA SHARING
ENVIRONMENT.
THIS IS WHAT MANY OF YOU BROUGHT
UP FOR THE DATA WILL BE SHARED
WITH A BROADER COMMUNITY, IN A
CLOUD ENVIRONMENT WITH TOOLS FOR
QUERYING THE DATA AND DATA
ANALYSIS PROVIDED AND THAT
ENVIRONMENT IS GOVERNED BY
NCATS.
SO WE ARE REALLY BUILDING THIS
SHARING ENVIRONMENT THAT IS
GOVERNED BY NCATS BUT IS MANAGED
BY THE DATA COORDINATING CENTER
AND WHOEVER HAS THAT GRANT.
NEXT SLIDE PLEASE.
SO GENERAL QUESTIONS, ARE WILL
ANY OTHER AREAS OF STUDY OR
EMPHASIS OR SUPPORT BUT THE DMCC
SHOULD CONSIDER THAT WOULD HELP
ADVANCE RARE DISEASE RESEARCH.
AND ONE THING SOMEHOW GOT LEFT
OFF THE SLIDES IS THAT WE ARE
ALSO WORKING WITH THE GROUPS
CYCLING OFF SO THEIR DATA WILL
BE IN THE CLOUD ENVIRONMENT BUT
WILL STILL HAVE ACCESS FOR A
PERIOD OF TIME TO GO UP THERE
AND USE THAT ENVIRONMENT, HAVE
ACCESS FOR THEIR DATA AND WORK
IN THAT SO IT IS OFTEN USE THE
ANALOGY WE ARE GRADUATING AND
GOING OFF TO COLLEGE BUT THEY
CAN STILL COME BACK AND DO
LAUNDRY AT HOME, THEY ARE
BECOMING MORE INDEPENDENT BUT
NOT TOTALLY CUTTING THEM LOOSE
AND THERE WILL BE SUPPORT FOR
THEM.
I OPEN THIS UP FOR COMMENTS.
JONI.
>> THANK YOU, TIINA.
WE HAVE BECKY ANNIE AND MATTHIAS
SO BECKY YOU ARE UP FIRST AGAIN.
>> THANK YOU FOR THAT OVERVIEW.
SO IN A SLIDE BEFORE THIS, YOU
SAY DATA ACCESSIBILITY FOR THE
RESEARCH COMMUNITY, I WOULD
SLASH THE WORD RESEARCH AND
RUELY IS THE BROAD COMMUNITY OF
STAKEHOLDERS.
THAT INCLUDES SCIENTISTS,
INCLUDES PAGES, PATIENTS, AND
INCLUDES POLICY MAKERS, BROADLY.
I THINK THAT'S CRITICAL AND
NEEDS TO UNDERLINE THIS.
THE SECOND THING I DIDN'T SEE
BROUGHT OUT EITHER IN READING
THAT CONCEPT PROPOSAL, OR
LOOKING AT THE SLIDES OR IN YOUR
PRESENTATION I REALIZE THESE GET
TRUNCATED TO KEEP THEM WITHIN
THE TIME BUT IT IS BRINGING IN
AND ADDITIONAL DATA SETS THAT
ALLOW US TO UTILIZE NATIONAL
DATA TO UNDERSTAND THE
COMMUNITIES AND NATURAL HISTORY
AS WELL, I THINK ONE OF THE
ISSUES THAT I WILL GRAPPLE WITH
ARE MARGINALIZED POPULATIONS,
INDIVIDUALINGS WHO DON'T HAVE
THE SAME LEVEL OF CONTACT WHO
CARE FOR RARE DISEASE.
SO TO UNDERSTAND AND MAKE SURE
THAT THE DATA WE ARE PRESENTING
IS PUT WITHIN CONTEXT SOCIAL
DETERMINANTS OF HEALTH, AND
OTHER THINGS THAT IMPACT EQUITY,
I THINK REALLY IMMEDIATE TO MAKE
A RESPONSIBILITY OF THE DATA
COORDINATING CENTER NOT JUST FOR
THE INDIVIDUAL SPECIFIC NETWORKS
BUT FOR DATA COORDINATING CENTER
BRING MANY THOSE KIND OF
NATIONAL DATA.
AND BE ABLE NOW TO START TO LINK
THOSE TOGETHER.
WHICH ALLOWS I THINK MUCH MORE
UNBIASED DATA TO MOVE FORWARD TO
HELP MAKE SOME OF OUR DECISIONS.
AND THEN THE LAST THING IS
DIGITAL DIVIDE, OR DIGITAL
EQUITY, AND NOT JUST DATA
EQUITY.
BECAUSE IN MAKING THINGS
ACCESSIBLE WE HAVE TO RECOGNIZE
THAT THERE IS A WHOLE SET OF
ISSUES.
THAT INCLUDES MAKING THE
INFORMATION USABLE AND
UNDERSTANDABLE BY OTHERS.
SO I WOULD ENCOURAGE AS THAT
DATA SHARING IS EXPANDED THAT WE
THINK ABOUT HOW TO DO THAT IN A
WAY THAT MEANINGFUL INFORMATION
CAN BE OBTAINED RATHER THIS THAN
JUST LARGE SETS OF NUMBERS WHICH
CAN OFTEN BE MISINTERPRETED AND
LEAD TO ERRONEOUS ASSUMPTIONS
GOING FORWARD.
I THINK THAT THERE'S LOTS OF
THINGS EXCITING ABOUT THIS AND
HEARING YOU TALK WHEN WE BROUGHT
IT UP BEFORE WE SHOULD HAVE
BROUGHT IT UP ABOUT SOME OF THE
INTERACTIONS WORKING WITH
COMMUNITY PATIENT ADVOCACY
GROUPS AND OTHERS.
I WOULD ENCOURAGE THAT STAYS AN
IMPORTANT INTERNAL AD VEUZRY
BOARD AND SOME OF THAT TRAINING
OF HOW TO USE DATA AND HOW TO
ADDRESS SOME OF THESE ISSUES
THAT ARE GIVEN AS TOOLS FOR
OTHER PEOPLE TO BE ABLE TO
DISSEMINATE TO THE POPULATIONS
THEY WORK WITH.
>> THANK YOU BECKY.
THAT WAS HELPFUL.
GO AHEAD TIINA.
>> THAT IS GREAT BUT ONE THING I
WASN'T ABLE TO PUT INTO THE
PRESENTATION IS AS WE ARE
DEVELOPING THESE TOOLS IN THE
DATA STANDARDS WHAT ARE THE MCC
HAS BEEN DOING IS REACHING OUT
TO OTHER GROUPS SO WHATEVER THEY
ARE BUILDING, WE ARE TRYING OUR
BEST TO MAKE SURE THAT IT IS
INTEROPERABLE, IF OTHER
ORGANIZATIONS ARE COLLECTING A
LOT OF RARE DISEASE RESEARCH, WE
WANT THE BRING THOSE DATA SETS
TOGETHER.
SO THERE ARE -- THEY HAVE BEEN
HAVING CONVERSATIONS WITH
EXTERNAL GROUPS, HARD TO PUT ALL
THIS INTO THE PRESENTATION.
THAT WAS A VERY IMPORTANT POINT
AND THAT'S VERY IMPORTANT TO US
TO MAKE SURE THAT AND I LOVE
YOUR POINT ABOUT I HI -- CPAC
USE EVERYTHING AS WELL.
>> ANNIE.
>> TIINA, YOU JUST AGAIN TO
ADDRESS THE FIRST THING WANTED
TO BRING OUT, MAYBE YOU HAVE A
MAGIC SOLUTION TO THIS.
BUT I JUST THINK IN THE RARE
DISEASE COMMUNITY, AND SOME WAYS
WE ARE DROWBING IN DATA AND
OTHER WAYS WE ARE DESPERATE NEED
OF DATA.
SO MANY DATA COLLECTION EFFORTS
UNDERWAY AND PLACES WHERE OUR
DATA IS BEING STORED AND
CHECKED: AND WHAT WE
DESPERATELY NEED IS FOR DATA
COLLECTION EFFORTS TO COME
TOGETHER AND HAVE LONGEVITY AS
MARSHALL WAS SAYING AND US TO
KNOW THAT THAT DATA IS GOING TO
BE STORED AND CONTINUED.
SO TO THE DEGREE YOU ARE ABLE, I
REALLY URGE THIS DATA COLLECTION
EFFORTS YOU LOOK AT THE MAJOR
COLLABORATIVE EFFORT CPA AND
NORD HAS DATA PLATFORMS ALL OF
YOUR PAGs PROBABLY HAVE THEIR
OWN REGISTRIES AND MANY OF O
THOSE EFFORTS ARE ALSO LOOKING
AT HOW TO PULL IN INDIVIDUAL
PATIENT EHR INTO BACK END DATA
POINTS THEY ARE COLLECTING.
THAT IS CRITICAL SO WE DON'T
HAVE INDIVIDUAL PATIENTS
FAMILIES AT THE END OF THE DAY
AFTER A LONG DAY OF LIVING OUR
LIVES WHICH ARE HARD RIGHT NOW
ANYWAY, PEOPLE ARE ENTERING
THEIR DATA INTO THE (INAUDIBLE)
DATA OR THINKING ABOUT WHERE
DATA IS COLLECTED OR WHERE
INFORMATION HAS TO BE UPLOADED.
SO JUST TO BE RESPECTFUL OF THAT
TIME AND ENERGY AND MAKE SURE
EVERYONE IS DOING ALL THAT.
THEN JUST MY OTHER THING I KNOW
THIS IS SORT OF FEEL LIKE IT IS
BECOMING MY RESOUNDING THEME BUT
ONE OF THE THINGS YOU HAVE
TALKED ABOUT I THINK YOU SAID IS
ONE OF THE GOALS IS WE WOULDN'T
HAVE TO RECOLLECT THE DATA WHEN
WE GET TO THE FDA.
WE DO IT RIGHT THE FIRST TIME, I
AM IN COMPLETE AGREEMENT WITH
BUT I URGE US TOT TO NOT THINK
OF THE FDA REGULATORY REVIEW AS
OUR END POINT AND END GOAL FOR
PATIENT COMMUNITIES, IF WHICH
CAN'T ACCESS IT IN PROVIDER
CAN'T CONSIDER IT, THEN NONE OF
THIS IS WORTH IT AT THE END OF
THE DAY, SO THE END GOAL NEEDS
TORR WHETHER OR NOT WE HAVE
CONSIDERED WHETHER OR NOT THIS
WILL INFORM DECISION MAKING IN
THE PAYER ENVIRONMENT SO WE
DON'T HAVE TO RECOLLECT
DIFFERENT DATA FOR CMS OR
MEDICAID STATES OR WHOM EVER IS
GOING TO BE ADDING A SEPARATE,
WE ARE NOW IN THIS SPACE WHERE
WE ARE ALMOST IN THE U.S. TO
EUROPEAN MODEL TO ADJUDICATION
SYSTEMS, WE DON'T HAVE THAT
HERE.
SO I THINK NCATS IS WELL POISED
TO BE THINKING ABOUT THESE
ISSUES AND BRINGING STAKEHOLDERS
IN TO THESE PROCESSES.
>> THANK YOU, ANNIE.
COULDN'T AGREE MORE.
MATTHIAS YOU ARE THIRD HERE.
LET YOU HAVE AN OPTION.
>> HUE SO MUCH.
FRIDAY AFTERNOON 3 P.M. AFTER
LONG WEEK LONG DAY BUT THIS IS
MOST IMPORTANT DISCUSSION FROM
MY VANTAGE POINT WE HAVE HAD
OVER THE LAST COUPLE OF DAYS.
THIS IS REALLY RARE DISEASE
SPACE, WE ARE AT A UNIQUE
OPPORTUNITY IN TIME AND IT HAS
NEARLY TRANSCENDED THE
DISCUSSION OVER THE LAST DAY AS
WELL, REDEFINING WHAT THE HUMANS
ARE ON MONOCLONAL CELL BASED
LEVEL OPENS OPPORTUNITIES TO
TRANSCEND THAT KNOWLEDGE TO
THERAPIES AND PJ FOR PRESENTING
IF WE HAVE TOOLS IN HAND TO
EFFECTIVELY TARGET TO COVER OR
ELIMINATE FUNCTION OF MOLECULES
AND CELLS CAUSING OUR DISEASE
(INAUDIBLE) IF WE ALLOW
KNOWLEDGE STATES.
THAT IS WHAT CAN AND NEEDS TO DO
AND WHAT THE DNCC WILL BE HAVE
TO DO THAT.
AND IT IS VERY EXCITING, WITH
TIINA, FOR THOSE THAT ARE RARE
-- STUDY NETWORK ONE OF THE
RDCRCs WHICH WILL BE
SUNSETTING SO I DON'T HAVE ANY
CONFLICT OF INTEREST.
REALLY STARTING TO SEE A CULTURE
CHANGE IN THE RDCRC AS WELL
INITIALLY A LOT OF THE NETWORKS
CAME ON EXPERTS WHO DEDICATED
THEIR LIVES TO A CERTAIN DISEASE
AND (INAUDIBLE) WHERE THE
DISEASE WAS GOING IN THE
TREATMENT CHANNEL.
WE ARE SEEING THE TRANSDEN SENSE
NOW TO DATA RICH FIELDS WHERE
DATA GAINS VALUE IF SHARED
WIDELY AND THAT DATA ISOLATION
NEEDS TO BE VIGOROUSLY OPENED UP
THAT IS A HARD -- THAT IS A
SENSITIVE PROCESS FOR MANY, MANY
REASONS.
TIINA HAS TO BE CONGRATULATED
WITH HER SYSTEMS IMPERSONATION
WITH THE CURRENT RDCRN TO GET TO
THAT TRIAL SO THE NEXT RFA TO
HAVE CULTURE CHANGE TAKE PLACE.
CLEARLY INCENTIVIZING ACTIVITIES
BETWEEN THE DIFFERENT RDCRCs
AND FOR THAT I SEE ANOTHER
NETWORK WHERE LEADERSHIP WAS
OPPORTUNITY POOLS, MEANING
DEDICATED RESOURCES FOR SPECIFIC
INTERACTIVITIES INSIDE THE NET
WORK WHO ARE NOT PREDEFINED BUT
AVAILABLE AND DEPLOYABLE IN A
GIVEN FUNDING SITE.
CAN BE VERY HELPFUL, IT HAS BEEN
FOR THE MEDICINE PROJECT WHERE
LEADS DATA COORDINATING CENTER,
HAS BEEN HELPFUL FOR US TO
REALLY BE NIMBLE AND FLEXIBLE TO
THE LATEST DEVELOPMENT AND IF
THIS IS CONSISTENT WITH THE
CONCEPT FOR YOUR RFA HAVE
(INAUDIBLE) SHOULD BE
IMPLEMENTED.
WF HAD DISCUSSION ON STANDARDS
AN ONTOLOGIES ESTABLISHING
EXPANDING YOUR KNOWLEDGE AFTER
WHAT YOU ALREADY HAVE MANY PLACE
IN N CATS WHERE YOU BRING
KNOWLEDGE TOGETHER.
WITH THE INTERNATIONAL
COMMUNITY, THE FOUNDRY IS A
GREAT PLACE TO START HUMAN
PHENOTYPE ONTOLOGY WHICH IS
INVOLVED WITH IRD IRC IS A GREAT
PLACE TO TRAND SEND NOW THE
BASIC SCIENCE CELL BIOLOGY
MONOCLONAL BIOLOGY UP TO THE
DISEASE PHENOTYPING ERTS.
PHENOTYPING EFFORTS.
ANOTHER INTERESTING FEATURE, HOW
CAN YOU GET THE DATA IF --
READY.
YES AND NO, MY CONCERN IS YOU
HAVE THESE DISCUSSIONS ALSO WITH
THE RETURN WITHOUT
DISCUSSIONINGS WITH A LOT OF OUR
WORK IN OUR NETWORKS.
WE ARE CAREFULLY CONSIDERING YES
YOU WOULD LIKE TO BRING THE DATA
BACK TO STUDY PARTICIPANTS.
BUT BE CAREFUL AND OBVIOUSLY
INSTITUTE OF MEDICINE SPENT TIME
AND EFFORT THINKING HOW TO DO
THAT.
IF BEESTABLISH QUALITY STANDARD
REQUIRES OUR RESEARCH STREAMS
TOP CLEAR EFFORTS AND OUR
EFFORTS VERY QUICKLY WILL
DIMINISH IN THEIR -- BUT FINDING
THE RIGHT BALANCE IN ACQUIRING
DATA WITH STANDARDS, WITH
TOOLBOXES HIGHEST QUALITY
POSSIBLE WITHOUT SUFFOCATING
RESEARCH EFFORTS, IS A VERY FINE
BALANCE.
STAKEHOLDERS IN PARTICULAR, TO
PEOPLE LIKE MYSELF INVESTIGATORS
AND BRANCHES WHO HAVE TO KEEP 6
SIDES OPERATIONAL AND MOVE
FORWARD AND KEEP DATA COMING IN,
WILL BE RELEVANT IN THAT
CONTEXT.
SO I WOULD REALLY ASK YOU TO
CONTINUE TO PUSH FOR CULTURE
CHANGE BUT BE INNOVATIVE TOWARDS
THE BASIC SCIENCE PERSPECTIVE,
THIS IS CHEERILY A CLINICAL
TRANSLATIONAL NETWORK.
BUT THE OPPORTUNITIES COMING
FROM THE BASIC SCIENCE ARE
TRANSFORMATIVE AND DMCC SHOULD
BE ABLE TO LIFT AND TRANSCEND
THESE ASPECTS AS WELL.
>> THANK YOU FOR THAT MATTHIAS.
COULDN'T AGREE MORE.
IT IS A CHANGING ENVIRONMENT AND
HA INCLUDES THE CULTURE ITSELF
IN THIS TYPE OF DATA WE ARE
WORKING WITH.
THAT'S SO IMPORTANT THAT WE KEEP
POLLING ON THOSE AS WELL TO KEEP
ADVANCING THEM AND DOING SO
RESPONSIBLY AND APPROPRIATELY.
TIINA, DID YOU HAVE SOMETHING?
>> I WAS NODDING MY HEAD IN
AGREEMENT AND EVALUATING EVERY
WORD COMING OUT -- THANK YOU SO
MUCH.
>> THANK YOU FOR THE LINKS AS
WELL.
FROM OUR PERSPECTIVE AT NCATS
ONE OF THE GREAT THINGS ABOUT
THIS PROGRAM TOO IS THE
IMPORTANCE OF THE COLLABORATIONS
WE HAVE ACROSS THE NIH AND SO I
SEE JILL MORRIS' HAND UP, FROM
HIND AND WONDERFUL TO -- FOR
EXAMPLE, AN INCREDIBLE PARTNER,
SO PLEASE GO AHEAD AND --
>> I AM A PROGRAM DIRECTOR AT
NINDS FOR THE RDCRN PROGRAM, TO
NCATS.
SO WE FUND NUMEROUS RDCRCs AND
CO-FUND DMCC, I APPRECIATE
BRIETDING THEM DOWN.
ONE THING TO EMPHASIZE THAT'S
NEW SINCE RDCRN IS TIINA PUT
TOGETHER FOR DATA STANDARD
WORKING GROUPS, AND SO THEY ARE
FOR THE DIFFERENT TYPES OF DATA
STANDARDS, THEY MEET ON A
MONTHLY BASIS, AND THEN THE
WHOLE GROUP, THE WHOLE DATA
STANDARD GROUP MEETS ON
QUARTERLY BASIS.
I SAT IN ON ONE LAST WEEK.
AND THEY WERE -- IT IS A SCOM BY
NATION OF -- COMBINATION OF
INVESTIGATORS AN PATIENT
ADVOCACY GROUPS AND DMCC ON
THESE.
AND THEY WERE TALKING ABOUT
DIFFERENT SKILLS IN THE
TELEHEALTH TYPE METHOD.
SO THEY ARE WORKING AS A TEAM TO
ESTABLISH DATA STANDARDS THAT I
THINK WILL BE USEFUL PUSHING
THESE STUDIES FORWARD TO CLINIC.
SO I JUST WANTED TO EMPHASIZE
THAT.
>> THANK YOU FOR THAT.
THANK YOU FOR YOUR PARTICIPATION
RDCRN TOO.
GREAT TO HAVE WONDERFUL PARTNERS
ACROSS THE NIH ON THIS.
SO IMPORTANT.
>> HAPPY TO DO IT.
I SEE MARSHALL YOUR HAND UP AND
GIVE YOU THE LAST WORD FOR
DISCUSSION AND I THINK WE NEED
TO MOVE ON.
>> TWO QUICK THINGS ONE FOR
REGULAR DATA COORDINATION, IS
THERE SOMEONE FROM AGENCY LIKE
FDA ALSO THERE SAYING HEY, THIS
IS NICE BUT THIS DOESN'T WORK.
TIINA, DO Y'ALL HAVE -- I
FIGURED Y'ALL HAD SOMEBODY IN
THERE.
>> WE REACH OUT BROADLY TO
VARIETY OF GROUPS COLLECTING ANY
KIND OF DATA, WE TALK TO THE FDA
BUT LIKE MATTHIAS SAID THEY ARE
NOT THE ONLY GAME IN TOWN.
WE ARE TRYING -- SO WE ARE
TRYING TO BALANCE.
WE ARE EQUAL OPPORTUNITY REACHER
OUTERS.
WE TALK TO EVERYONE DIFFERENT
ORGANIZATIONS THAT ARE BRINGING
THEIR DATA TOGETHER.
WE DON'T WANT TO REPLICATE.
WE WANT THINGS TO BE
INTEROPERABLE AND THAT IS THE
KEY WORD THAT WE USE.
>> CURIOUS TOO, THAT
INTEROPERABILITY IN EVERY --
>> UNDERSTOOD BUT AT THE END OF
THE DAY IT WOULD BE NICE WHEN WE
DO THESE CLINICAL TRIALS THAT
MOVE FORWARD THAT THE DATA CAN
IF NOTHING ELSE BE USED TO
ESTABLISH NATURAL HISTORY.
SO CONTROL THE STUDY OR
SOMETHING LIKE THAT.
>> THE FDA MARSHALL, I HAVE TO
SAY, IS THEY HAVE BEEN VERY
ACTIVELY PARTICIPATING IN OUR
MEETINGS COMING TO SESSIONS, I
HAVE A MONTHLY INDIVIDUAL
MEETING WITH WHERE WE TALK ABOUT
RDCRN AND WHAT WE CAN DO.
>> I HELPED TRAIN PETRELLA.
LAST IS A PHILOSOPHICAL THING.
INDULGE ME A SECOND HERE.
Y'ALL HAVE CREATED SOMETHING
THAT DOESN'T FIT THE CLASSIC NIH
MODEL OF FIVE YEAR PROJECTS AND
THINGS LIKE THAT, WHAT Y'ALL
CREATEDDED IS A COLLECTION OF
DATA THAT IS ALMOST A NATIONAL
TREASURE.
AND AS THESE PROGRAMS SUN DOWN
AND THOUGH IT SOUNDS LIKE THE
PLANS YOU CAN ACCESS FOR A
WHILE, I REALLY LIKEIAL TO COME
BACK -- Y'ALL TO COME BACK AND
THINK THROUGH HOW DO MAKE SURE
THIS STAYS EXTANT FOR A LONG
PERIOD OF TIME.
THE AMOUNT OF TREASURER AND
EFFORT FROM BOTH PATIENT
COMMUNITY, AS WELL AS THE
RESEARCH COMMUNITY TO CREATE
THESE DATA SETS IS MASSIVE.
THIS IS SOMETHING THAT I WOULD
LOVE TO SEE AROUND FOR VERY LONG
TIME.
SO MANY QUESTIONS WE HAVE COME
UP WITH 15 YEARS FROM NOW, 20
YEARS FROM NOW THAT MAY EXIST IN
THESE DATA SETS THAT ARE CHECKED
I DON'T EXPECT AN ANSWER BUT I
WANT YOU TO THINK ABOUT THIS
DIFFERENTLY THAN YOU DO YOUR
CLASSIC FIVE YEARS OR HOWEVER
LONG PROJECT IS GOING TO LAST.
>> I THOUGHT IN MY HEAD WE HAVE
CENTERS OF EXCELLENCE HERE AT
THE NIH, MAYBE WE NEED A GNASH
THAT WILL TREASURE DESIGNATION
AS WELL IN SOME WAY.
SO IT IS A GREAT IDEA, GREAT
POINT SO THANK YOU.
I WILL THINK ABOUT THAT MORE.
>> JODY, IF SAM MICHAELS IS ON,
IF THIS SOMETHING WE CAN TALK
ABOUT QUITE A LOT, I DON'T KNOW
IF SAM IS AVAILABLE TO SAY THIS
IS HOW WE ARE THINKING OF
BUILDING AND SUPPORTING THINGS.
>> THANK YOU.
>> THANKS.
>> WITH THAT I THINK WE WILL GO
AHEAD AND MOVE ON TO THE VOTE
HERE.
SO ANNA, I WILL TURN IT OVER TO
YOU TO DO THE NEXT STEP.
>> THIS IS JONI.
SO WE WILL VOTE ON TWO CONCEPTS
FROM OFFICE OF RARE DISEASE
RESEARCH.
THE FIRST ONE IS FOR THE RDCRN
CONSORTIA, MAY I HAVE A MOTION.
>> SO MOVED.
>> SECOND.
>> ALL IN FAVOR.
>> AYE.
>> ANY OPPOSED?
ANY ABSTENTIONS?
THANK YOU.
THE CONCEPT FOR THE RDCRN CON
SOR HA IS APPROVED.
NEXT MAY I HAVE A MOTION TO
ADVANCE THE DMCC CONCEPT FOR THE
RARE DISEASE CLINICAL RESEARCH
NETWORK?
>> MOVE.
SECOND.
>> ALL IN FAVOR.
>> AYE.
>> ANY OPPOSED?
ANY ABSTENTIONS?
THANK YOU VERY MUCH, ORDR RDCRN
CONCEPTS HAVE BEEN APPROVED.
>> THANK YOU, APPRECIATE THAT
AND THANK YOU FOR THE VOTES.
WE ARE ROUNDING THIRD HERE ON
OUR WAY HOME FOR THE REST OF THE
AFTERNOON AND WE HAVE A COUPLE
MORE THINGS WE NEED YOUR HELP
ON.
THE FIRST IS THE PRESENTATION
CALLED THE NCATS TRIENNIAL
INCLUSION REPORT AS MENTIONED
YESTERDAY, THIS IS ROUTINE BUT
NOT ROUTINE, DONE EVERY THREE
YEARS.
DR. VALERY GORDON IS OUR ACTING
DIRECTOR OF OFFICE OF
TRANSLATIONAL MEDICINE AND SHE'S
ALSO SENIOR ADVISOR FOR CLINICAL
RESEARCH AND INCLUSION POLICY
OFFICER HERE AT N CATS SO SHE IS
GOING TO DO THIS PRESENTATION
AND HOPE TO GIVE YOUR -- GET
YOUR INPUT ON THAT.
VALERY, PLEASE GO AHEAD.
>> WE CAN HEAR YOU.
>> I'M HERE TO PRESENT THE NCATS
TRIENNIAL REPORT ON MONITORING
ADHERENCE TO NIH POLICIES ON
INCLUSION OF WOMEN MINORITIES.
IN CLINICAL RESEARCH.
COULD I HAVE THE NEXT SLIDE
PLEASE.
IN CASE YOU ARE WONDERING WHY
I'M PRESENTING THIS.
THE PUBLIC HEALTH SERVICE ACT
REQUIRES NIH TO ENSURE INCLUSION
OF WOMEN AND MINORITIES IN NIH
FUNDED RESEARCH.
IN THE MANNER APPROPRIATE TO
SCIENTIFIC QUESTIONS UNDER
STUDY.
THAT IS A REALLY IMPORTANT
POINT.
NIH THEN REPORTS AGGREGATE DATA
TO CONGRESS IN A TRIENNIAL NIH
REPORT SO NCATS DATA WILL BE
COMBINED WITH ALL OTHER IC DATA.
FINAL REPORT.
BUT AS PART OF THE REPORT IN
PROCESS, EACH NIH IC NEEDS TO
PRESENT THEIR DATA TO THEIR
ADVISORY COUNCIL.
AND MY -- THE DATA TABLES I'M
GOING TO SHOW ARE COMPLICATED.
AND MY RESPONSIBILITY TO FOCUS
ATTENTION ON THE MAJOR POINTS IN
EACH TABLE RATHER THAN GOING
OVER ALL THE DETAILS WHICH WOULD
TAKE A REALLY LONG TIME.
SO THE INFORMATION THESE TABLES
ARE IN YOUR COUNCIL NOTE BOOKS
SO IF YOU CAN ENCOURAGE THEM TO
READ THEM AT YOUR LEISURE.
NCATS TAKES DATA SERIOUSLY AND
WORK TO ENSURE WE ARE INCLUDING
RELEVANT POPULATIONS.
IN A STUDY WE SUPPORT.
NO ACTION BY COUNCIL IS
REQUIRED, SIMPLY REQUIRED TO
PRESENT DATA TO YOU.
NEXT SLIDE PLEASE.
SO I'M HERE TO REVIEW THE FISCAL
YEAR 2019 TO 2021 ENROLLMENT
DATA AND OFFICE OF NIH OFFICE OF
EXTRAMURAL RESEARCH, REQUIRES
CERTIFICATION BY IC DIRECTORS
THAT THE DATA ARE ACCEPT NL FOR
INCLUSION -- ACCEPTABLE FOR
INCLUSION MANY THIS TRIENNIAL
REPORT.
I'M GOING TO NOTE THAT THE DATA
TABLES REFLECT THE INFORMATION
COLLECTED AS OF THE DATE THE
REPORT WAS RUN AND THAT WAS IN
MAY AND NOVEMBER SO CHANGES ARE
MADE BY AWARDEES OR NCATS FOR
ONGOING STUDIES, THESE DATA
CHANGE ALL TIME.
ALTHOUGH FISCAL YEAR 2021 DATA
ARE LOCKED FOR CHANGES.
NEXT SLIDE PLEASE.
MAJORITY OF NCATS SUPPORTED
CLINICAL RESEARCH, MAJORITY
TAKES THE FORM OF FORMAL
PARTNERSHIPS WITH OTHER NIH
ICs YOU HEARD ABOUT SOME OF
THEM TODAY.
TO AVOID DUPLICATION OF --
PARTNERING I SEE NOT NCATS
REPORTS INCLUSION ENROLLMENT
DATA.
THIS MEANS THAT NCATS NUMBERS
ARE MODEST WHEN COMPARED TO
OTHER NIH ICs AND CREATES SOME
VARIABILITY IN NUMBERS BUT I
WANT TO SHOW EXAMPLES OF NCATS
PROGRAMS FOR WHICH OTHER NIH
ICs REPORT ENROLLMENT DATA
INCLUDE COMMUNITY ENGAGEMENT
ALLIANCE AGAINST COVID-19
DISPARITIES, HEEL INITIATIVES TO
END ADDICTION LONG TERM, NCATS
TRIAL INNOVATION NETWORK AND
RDCRN OUTLET YOU HEARD GREAT
DEAL TODAY.
EXAMPLES OF NCATS PROGRAMS FOR
WHICH NCATS ENROLLMENT DATA ARE
-- SO THOSE ARE THE NUMBERS YOU
SEE ARE THE CTSA PROGRAM
COLLABORATIVE INNOVATION AWARDS
SMALL BUSINESS INNOVATION
RESEARCH AWARDS SBIRs, AND
CTSA PILOT STUDIES I COULDN'T
GET EXACT NUMBER BUT OVER 330
FOR FISCAL YEAR 2021.
THEY ARE SMALL, I NEED TO NOTE
THAT THE NCATS INTRAMURAL
PROGRAM DIDN'T SUPPORT ANY
CLINICAL RESEARCH DURING THIS
PERIOD.
BUT THEY ARE PLANNING CLINICAL
TRIALS STEMMING FROM DTR
RESEARCH IN THIS CURRENT FISCAL
YEAR.
NEXT SLIDE PLEASE.
SO OVER THE PAST THREE YEARS,
I'M GOING TO GET TO THE DATA IN
A MINUTE.
NCATS HAS APPLIED INNOVATIVE
TRANSLATIONAL SCIENCE PARADIGM
TO ADDRESS HEALTH DISPARITIES,
IT UNDERSERVE AND VULNERABLE
POPULATIONS.
SPECIFICALLY WE LEVERAGE CTSA TO
PARTICIPATE IN NIH WIDE EFFORTS
TO EXPLORE WAYS TO INCREASE
INCLUSION OF THESE POPULATIONS.
AND EXAMPLES OF THESEN COLLUDE
THE RADX PROGRAMS, AND SEAL
WHICH I SPOKE ABOUT PREVIOUSLY.
AND ADDITIONALLY PUBLISHED A
NOTICE TO PROMOTE EXPANSION OF
CTS EFFORTS TO ACCELERATE
CLINICAL TRANSLATIONAL RESEARCH
TO ADDRESS HEALTH DISPARITIES,
AND SIGNIFICANT BURDEN OF
CONDITIONS, DISPROPORTIONATELY
AFFECT RURAL MINORITY AND OTHER
UNDERSERVED POPULATIONS.
AND IN 2021 NCATS ENHANCED CTSA
PROGRAM GOALS TO CREATE PROVIDE
DISSEMINATE INNOVATIVE RESEARCH
PROGRAMS PARTNERSHIPS ACROSS
INSTITUTIONS BETWEEN THESE TO
ADDRESS HEALTH DISPARITIES AND
DELIVER BENEFITS OF
TRANSLATIONAL SCIENCE TO ALL SO
AS YOU CAN TELL WE DO TAKE THIS
SERIOUSLY.
SO DATA NEXT SLIDE PLEASE.
FIRST TOTAL NUMBER OF NCATS
AWARDS WITH RESEARCH INVOLVING
HUMAN SUBJECTS OVER THE THREE
YEAR PERIOD.
AND IF YOU -- AS YOU LOOK, YOU
WILL SEE I WON'T SHOW TAKE HOME
MESSAGE AT THE BOTTOM OF EACH
TABLE BUT NUMBER OF AWARDS IS
LOWER MANY FISCAL YEAR 2021,
WHEN COMPARED TO PREVIOUS TWO
YEARS DUE TO COORDINATED EFFORTS
HAVING TO DO WITH THE PANDEMIC
MANY MANY MANY NIH WIDE
COLLABORATIVE PROJECTS INITIATED
IN FISCAL YEAR 2021.
SO I'M GOING TO EXPLAIN A LITTLE
BIT ABOUT INCLUSION ENROLLMENT
DATA, THE TABLES ON THE
FOLLOWING SLIDES SHOW INTERIM
CUMULATIVE DATA.
THEY ARE INTERIM BECAUSE THE
DATA REFLECT THE INFORMATION
COLLECTED BY NIH FOR STUDIES
THAT MAY CONTINUE PAST THE
SCHOOL YEAR 2021.
AND THEY ARE CUMULATIVE.
BECAUSE THEY COLLECT STUDIES
STARTED PRIOR TO FISCAL YEAR
2021.
SO THE FISCAL YEAR 19 AND 20
DATA ARE PROVIDED AS A BENCHMARK
FOR FISCAL YEAR 2021 DATA.
ALL STUDIES INVOLVING SECONDARY
DEALT ANALYSES ARE EXCLUDE --
DATA ANALYSES ARE EXCLUDED.
THE DATA EXISTS PRIOR TO THE
STUDY, THEY ARE NOT INCLUDED IN
INCLUSION TABLES.
THE DATA SHOWING THE TABLES ARE
STANDARDIZED AND ALL REPRESENT
RESPONSES TO SPECIFIC REQUESTS
MADE TO EACH.
SO NOT DIRECTLY COMPARABLE.
FINALLY INCLUSION ENROLLMENT
DATA BY RESEARCH CONDITIONS AND
DISEASE CATEGORIZATION RCDC ARE
AVAILABLE THROUGH THE LINK
PROVIDED HERE.
NEXT SLIDE PLEASE.
DATA TABLES I WILL SHOW YOU,
THERE ARE NOT TOO MANY BUT I
WILL SHOW YOU DOMESTIC VERSUS
FOREIGN INCLUSION ENROLLMENT
TABLES.
NIH DEFINED PHASE 3 CLINICAL
TRIALS.
ENROLLMENT BY SEX GENDER,
ENROLLMENT BY SEX GENDER AND
RACE ETHNICITY.
U.S. MINORITY ENROLLMENT.
ENROLLMENT BY MINORITY RACE, AND
U.S. ENROLLMENT BY ETHNICITY.
WE WILL GET TO DATA TABLES.
NEXT SLIDE PLEASE.
THIS TABLE SHOAS THERE WERE MANY
MORE STUDIES CONDUCTED IN THE
U.S. THAN ABROAD.
THAT'S IN THE PURPLE BOX.
WHEN REPORT NUMBER OF INCLUSION
REPORTS IF 2021 WE ARE CLOSE TO
NUMBER IN 2019 THERE WERE FEW
MORE INCLUSION ENROLLMENT
REPORTS THAT DID NOT REPORT
ENROLLMENT AND THAT IS BECAUSE
NUMBER OF STUDIES HAD TO DELAY
ENROLLMENT DUE TO COVID.
SOME SIMPLY HAD NOT YET STARTED.
APOLOGIES BUT -- SO THE LOWER
TABLE INDICATES N CATS DIDN'T
SUPPORT NIH DEFINED PHASE 3
CLINICAL TRIALS IN 2021, WE NEED
TO GO THROUGH SPECIAL PROSESES
RARE DISEASES IF WE WANT TO DO
THIS TYPE OF STUDY.
SO WE DON'T HAVE VERY MANY YOU
CAN SEE PRIOR YEARS, AND NONE IN
FY 20216789 SO THESE THIS TABLE
SHOWS AGGREGATE ENROLLMENT BY
SEX GENDER, WHAT I WANT TO POINT
OUT IS THAT THE NUMBER OF
UNKNOWNS WHICH IS PURPLE ARROW,
NUMBER OF FIRST NUMBER OF
FEMALES ENROLLED IN 2021 IS
SIMILAR TO THE NUMBER OF MALES
ENROLLED.
THAT IS WHERE THE DATABASE GOT
UPDATED.
SO THAT IF IT LOOKS LARGER IT IS
NOT REALLY LARGER.
BUT I WANTED TO FOCUS YOUR
ATTENTION ON THE PERCENT OF
UNKNOWN ENROW LEES WHICH
DECREASED SIGNIFICANTLY IN
FISCAL YEAR 2021, DUE TO FOCUSED
EFFORT BY DIVISION OF CLINICAL
INNOVATION.
AND WE HAVE NOW REACHED THE
LEVEL THAT NIH GENERALLY HAS
OVERALL FOR UNKNOWNS AROUND 3%
SO WE HAVE MADE A LOT OF
PROGRESS IN THAT AREA.
NEXT SLIDE PLEASE.
THIS LARGE TABLE SHOWS DATA BY
SEX GENDER AND RACE ETHNICITY.
YOU CAN LOOK AT THIS TABLE AT
YOUR LEISURE BUT THE TAKE HOME
MESSAGES ARE THE NUMBER SO YOU
WILL SEE 2021 ARE THE LAST THREE
ROWS.
THE NUMBER OF FEMALE AND MALE
MINORITY ENROLLEES ARE SIMILAR
EACH FISCAL YEAR.
MOST IF FISCAL YEAR 2021, AS THE
SECOND BOX SHOWS THEY WERE WHITE
AND NON-HISPANIC.
THIS ISN'T SO UNUSUAL BUT I NEED
TO POINT OUT AND I WILL ADDRESS
THAT, IN A MINUTE.
NEXT SLIDE PLEASE.
THIS TABLE SHOWS PERCENT
MINORITY ENROLLMENT FOR FISCAL
YEAR 2021 IN THE UNITED STATES
IS QUITE SIMILAR ACROSS THE LAST
THREE YEARS SO LOOK AT THE
PERCENT MINORITY ENROLLEES IT
ISN'T VERY DIFFERENT, BUT
PERCENT MINORITY ENROLLEES IN
THE UNITED STATES WAS LOWER IN
2021.
SHOWN ON PREVIOUS SLIDE.
NEXT SLIDE PLEASE.
SO NOW WE HAVE ENROLLMENT BY
RACE WHICH IS ANOTHER TABLE BUT
WHAT I WANT YOU TO TAKE FROM
THIS IS THAT FISCAL YEAR 2021
SHOWS INCREASING PERCENTAGE OF
WHITE AND MORE THAN ONE RACE
ENROLLEES.
THESE DATA ARE SELF-REPORTED SO
THIS IS WHAT PARTICIPANTS
REPORTED.
THE PERCENTAGE OF ENROLLEES
GREATER THAN ONE RACE INCREASED
OVER THE LAST THREE YEARS.
AND PERCENTAGE ENROLLEES WITH
UNKNOWN RACE DECREASED THE LAST
THREE YEARS.
AS SHOWN BY ARROW ON THE RIGHT
SIDE.
NEXT SLIDE PLEASE.
ENROLLMENT BY ETHNICITY.
WHAT IT SHOWS IS PERCENTAGE OF
HISPANIC ENROLLEES DECREASED
BETWEEN FISCAL YEAR 2019 AND
2021.
NOT A LOT BUT SOME.
HA IS WHAT WE WILL ADDRESS GOING
FORWARD.
NEXT SLIDE PLEASE.
NCATS SUPPORTS EFFORTS TO
INCREASE MINORITY PARTICIPATION
AND DIVERSITY.
NCATS SPECIFIC PROGRAMS AND IN
NIH PROGRAMS THAT LEVERAGE NCATS
PROGRAMS AND RESOURCES.
WE RECOGNIZE THE RELATIONSHIP
BETWEEN DIVERSITY AND INCLUSION
AND RESEARCH FUNDING TRAINING
RESEARCH PARTICIPATION ACCESS TO
RESEARCH BENEFIT HEALTHCARE AND
POPULATION HEALTH.
THE GOAL OF NCATS TRANSLATIONAL
SCIENCE IS TO FACILITATE
EQUITABLE BENEFIT TO ALL
REGARDLESS OF RACE ETHNICITY
SEXUAL O ORIENTATION,
SOCIOECONOMIC IS A TUS OR
BACKGROUND, WE WANT TO
STRENGTHEN PARTNERSHIPS WITH
COLLABORATORS TO ENSURE THAT
EQUITY DIVERSITY AND INCLUSION
ARE MEANINGFULLY ADDRESSED AT
ALL NCATS INITIATIVES.
AND WE TEND TO PROVIDE PUBLIC
TRANSPARENCY ON THE EQUITY
DIVERSITY ANDEN COLLUSION GOALS.
ACTION AND METRICS OF NCATS
RESEARCH PROJECT AND ACTIVITIES.
INCLUDING GRANTS, INTRAMURAL
PROJECTS TRAINING PROGRAMS
WORKSHOPS, COLLABORATIONS, AND
AREAS OF TRANSLATIONAL FOCUS.
AND THAT IS ALL I'M GOING TO
PRESENT TO YOU TODAY BUT I'M
HAPPY TO ANSWER QUESTIONS
PARTICIPATE IN DISCUSSION.
THANK YOU.
>> THANK YOU SO MUCH, VALERY.
I WILL REITERATE REMINDER THIS
IS SOMETHING THAT IS REQUIRED
FOR US TO DO TO PRESENT THIS TO
COUNCIL.
AND YOU ALSO HAVE THE MUCH
DEEPER SET OF INFORMATION IN
YOUR COUNCIL BOOKS SO YOU CAN
REVIEW THEM AND ANOTHER
IMPORTANT ASPECT OF THIS IS THAT
I ALSO GO THROUGH AND CERTIFY
THESE NUMBERS AS WELL TO SEND
THEM TO NIH AND AS THAT BIGGER
ALL OF NIH REPORT GETS PUT
TOGETHER AND SO UNDERSTANDING
THE IMPACTS OF WHAT NIH
CONTRIBUTES TO THESE NUMBERS AS
WELL AS THEN UNDERSTANDING WHAT
IT IS IN THE LARGER PICTURE WHEN
WE SEE THAT FINAL REPORT IS
IMPORTANT.
SO WE WILL BE LOOKING AT THAT
WHEN IT COMES OUT TOO.
THESE WERE NCATS NUMBERS I WANT
TO GIVE YOU AN OPPORTUNITY TO
ASK ANY QUESTIONS YOU MIGHT HAVE
IN TERMS OF THIS REPORT SO I SEE
PAULA AND MARSHALL HAVE YOUR
HAND UP, PAULA YOU GO FIRST.
>> THANKS, IT WAS A VERY
ILLUMINATING PRESENTATION.
ANOTHER THING I FIND SURPRISING
IS HITS PANIC ENROLLMENT WENT
DOWN WHEN HISPANIC ETHNICITY IS
THE MORE RAPIDLY GROWING
SEGMENTS OF OUR POPULATION IN
THE UNITED STATES.
YOU ALSO NOTE THAT THE UNKNOWNS,
RACE AND ETHNICITY THE ALWAYS A
CHALLENGE WHEN IT COMES TO
LOOKING AT ANYTHING.
BECAUSE THE DATA IS OFTEN
MISSING WRONG INCORRECT
CONFLICTING AND EVERYTHING ELSE.
I GUESS ONE QUESTION IS HOW DO
WE IMPROVE THAT SO WE DON'T HAVE
A BIGGER UNKNOWN CATEGORY THAN
WE HAVE OF ANY SPECIFIC RACE OR
ETHNICITY.
SO HA IS ONE.
AND THE IDEA OF THE DIVERSITY
EQUITY AND INCLUSION IN WHAT WE
HAVE SEEN WITH LOW RESOURCE
AREAS LIKE RAWRL (INAUDIBLE) HOW
WE BEGIN TO ADD THOSE VARIABLES.
INTO THE MIX OF WHAT IS ALREADY
A VERY COMPLEX AREA AND TOPIC.
SO YES, I DO APPRECIATE THE
CHALLENGE YET WE HAVE TO
OVERCOME CHALLENGES (INAUDIBLE)
>> I COULDN'T AGREE WITH YOU
MORE.
WE WERE SURPRISED BY THE LOWER
HISPANIC ENROLLMENT AS I SAID,
THE LOW NUMBERS THAT WE HAVE
MAGNIFY THE DIFFERENCES.
SO I HOPE THAT YOU WON'T TAKE
THIS AS THAT WE ARE NOT PAYING
ATTENTION TO THIS BECAUSE WE ARE
PAYING ATTENTION TO THIS AND
THAT ANY HICCUPS MANY THE DATA,
THAT WILL BE CORRECTED LATER
STILL SHOW UP IN THE REPORT
BECAUSE IT IS ONLY RUN ONCE.
SO I CAN'T PROMISE EXRU THESE
DATA ARE ABSOLUTELY CORRECT.
I CAN PROMISE YOU THAT THAT'S
WHAT WAS IN THE DATABASE ON THE
-- THAT THE DAY THE REPORT WAS
RUN.
IN ANY CASE WE ARE STILL TRYING
TO -- WE HAVE A GOAL TO ENSURE
THAT EQUITY DIVERSITY AND
INCLUSION ARE MEANINGFULLY
ADDRESSED BY N CATS.
>> VALERY, I WILL ADD AS WELL,
THESE NUMBERS ARE DYNAMIC SO
WHEN YOU LOOK AT THEM, THEY ARE
DIFFICULT TO INTERPRET BECAUSE
THEY ARE SO DYNAMIC, SO WE DON'T
WANT TO OVERREACT BUT SOMETHING
LIKE THAT YOU POINTED OUT, I
THINK OVER REACTION IS NOT BAD
THING.
SOME OF THE THINGS WE ARE
WORKING ON TOO FOR EXAMPLE ARE
DISCUSSIONS WITH NIMHD IN
TALKING ABOUT THEIR RCMI
INSTITUTIONS HOW WE CAN FIND
COORDINATION COLLABORATION.
SO EVEN THOUGH THOSE NUMBERS
MIGHT BE DYNAMIC AND THAT IS
IMPORTANT TO KNOW THERE'S STILL
-- THEY STILL HIGHLIGHT SOME
ISSUES WE STILL NEED TO ADDRESS
AND THAT IS ONE OF THOSE THAT
YOU POINT OUT THAT I THINK WE
CAN.
SO JUST SOME OF THOSE THINGS WE
ARE TRYING TO DO ARE ENCOURAGING
MORE INTERACTION ACROSS
INSTITUTIONS, THE CTSA PROGRAM
IS FOR EXAMPLE MANY THE COVID
ENVIRONMENT THEY HAVE BEEN
WORKING WITH NHLBI FOR THIS SEAL
INITIATIVE IN TERMS OF DOING
MORE IN TERMS OF ENGAGEMENT.
AND COMMUNICATION ABOUT COVID
ACTIVITIES.
AND THAT IS REALLY ENHANCED THE
AWARNESS OF HOW PEOPLE GET
INVOLVED IN THESE TYPES OF
STUDIES.
THAT IS ONE ASPECT WE CAN TRY TO
CONTINUE TO PROMOTE AND THOSE
INTERACTIONS.
I WANT TO REITERATE WHAT VALERY
SAID, THOUGH SYSTEM ISN'T
PERFECT IT IS STILL SOMETHING WE
CAN REALLY HANG OUR HAT ON AND
TRY TO BOLSTER WORK IN THIS
SPACE.
>> JONI, LET ME JUST ADD THAT AS
VALERY POINTED OUT, HOPEFULLY IT
DIDN'T GET LOST, SOME LARGE
EFFORTS AT NCATS IS INVOLVED
WITH ACTIONS SUCH AS HING THINGS LIKE
SEAL, NHLBI RUN THE TRIAL
INNOVATION NETWORK, THAT'S NOT
PART OF THIS REPORTING BECAUSE
THAT IS REPORTED ELSEWHERE SO
WILL IS A LOT OF ENGAGEMENT BY
NCATS BUT OTHER PEOPLE ARE
REPORTING THOSE NUMBERS.
SO OURS IS A VERY SMALL SUBSET
OF THE TOTAL ACTIVITIES THAT WE
ARE ENGAGED WITH AND TENDS TO BE
FOCUSED ON SMALLER PILOT SCALE
PROJECTS WITH YOUNGER
INVESTIGATORS.
SO IT IS SOMETHING WE PUT A LOT
OF EFFORT INTO WORKING MORE
CLOSELY WITH.
>> AND AGAIN EVEN SO, IT IS
STILL SOMETHING WE WANT TO
RECOGNIZE TO ADDRESS FURTHER.
PAUL I SEE YOUR HAND UP NEXT.
PLEASE GO AHEAD.
>> THANK YOU FOR THE
PRESENTATION.
SOME OF THE NUMBERS WERE A
LITTLE DISTURBING BUT I DO
UNDERSTAND THEIR FLUID.
THERE IS ALWAYS ROOM FOR
IMPROVEMENT SO I APPRECIATE YOU
GOING DEEPER THAN THE LAST SLIDE
IN TERMS OF THE TACTICS FOR THE
REMEDIATION PLAN.
AS THE EAC IS IT APPROPRIATE TO
ASK FOR UPDATE NEXT TIME WE
MEET?
MAINLY DETAILING SOME OF THE
STRATEGIES AND TACTICS UNDERWAY
THERE?
>> HAPPY TO DO THAT.
>> THANKS.
>> GOOD SUGGESTION.
THANK YOU.
>> WE GENERATE INTERNAL REPORT
ANNUALLY.
SO THAT -- THOSE NUMBERS WILL BE
AVAILABLE TO YOU.
>> OKAY.
ANY OTHER -- I SEE MARSHALL YOUR
HAND UP MAYBE THE LAST WORD
HERE.
>> THAT'S TWICE NOW.
TWO SHORT OBSERVATIONS.
ONE VALERY, ONE OF THE THINGS WE
SEE IN OUR STATIC POPULATION
CLINICS AT LEAST THE CHILDREN'S
HOSPITAL IS FAMILY MORE
FREQUENTLY IDENTIFYING MORE THAN
ONE RACE.
SO WE HAVE SEEN A BIG SHIFT
WITHOUT NECESSARILY SHIFT WHO
THE ACTUAL PATIENTS ARE SO THAT
DOES NOT SURPRISE ME.
THAT IS CONSISTENT WITH OTHER
TRENDS ELSEWHERE.
WHEN WE WENT BACK AND
INTERVIEWED PEOPLE WHO CHOSE NOT
TO PARTICIPATE IN RESEARCH FROM
DIVERSE OR FROM OUR HISPANIC
NON-ENGLISH SPEAKING COMMUNITIES
ONE BIG IDENTIFIER WAS THE IRB.
PEOPLE FELT THREATENED, VERY
OVERWHELMED, IT IS LIKE THAT
APPLE AGREE THING WHERE YOU LOOK
AND SAY WHAT DID I AGREE TO ONLY
MORE SIGNIFICANT HERE.
SO ONE AREA YOU CAN LOOK AT THAT
IS ISSUES AROUNDISHRB AND
CONSENT.
>> A MORE OBVIOUS STATEMENT, THE
ELEPHANT IN THE ROOM IS THE
PANDEMIC CLEARLY HAS AFFECTED
OUR SOCIETY UNEQUALLY AND SHOWN
CHALLENGES.
WHAT YOU SEE IN NUMBERS IN THE
SLEKS OF THAT AND THAT'S BACK TO
PAUL'S COMMENT WE HAVE TO ENSURE
THAT THAT IS A CONSEQUENCE OF
EXTERNAL FORCE WE ARE UNDER
RATHER THE THAN INTRINSIC THAT
MIGHT BE A REASONABLE WAY TO
FOLLOW HOW CLOSE WE PARTICULARLY
OUR MINORITY POPULATIONS RECOVER
FROM THE PANDEMIC.
WE TAKE AS AN OPPORTUNITY TO
ENGAGEMENT.
>> THANK YOU, MATTHIAS.
WELL TAKEN.
ANY OTHER COMMENTS ON THIS
TOPIC?
FROM PAUL AND MATTHIAS, I WILL
MAKE SURE WE PRESENT THIS NEXT
TIME TO YOU TO GIVE A DEEPER
SENSE IN TERMS OF OUR MANAGING
THESE ISSUES.
I THINK WE WILL GO AHEAD AND
MOVE ON TO THE NEXT
PRESENTATION.
THIS IS THE LAST PRESENTATION OF
THE DAY.
BY KEITH LAMIRANDE, OUR
EXECUTIVE OFFICER.
HE DOESN'T OFTEN GET A CHANCE TO
PRESENT TO COUNCIL SO I'M
EXCITED, AND HE WILL BE TALKING
ABOUT SOME PROPOSED CHANGES THAT
REQUIRE PUBLIC PRESENTATION.
KEITH, I WILL TURN IT OVER TO
YOU.
>> GOOD AFTERNOON, EVERYBODY.
THANK YOU, JONI.
I'M EXECUTIVE OFFICER FOR NCATS.
THRILLED TO BE HERE WITH YOU
THIS AFTERNOON AS LAST THING
BETWEEN YOU AND NOT ONLY THE END
OF COUNCIL BUT THE WEEKEND.
SO WITH THE REFERENCE HERE LET
ME SAY MOW FOR SOMETHING
COMPLETELY DIFFERENT.
WE WILL TALK ABOUT
ORGANIZATIONAL CHANGES AND
SAUSAGE MAKING WITHIN THE
ORGANIZATIONAL STRUCTURE AT NIH.
I DON'T THINK I'M DRIVING THE
SLIDES SO I'LL SAY NEXT SLIDE
SEE WHAT HAPPENS.
PERFECT.
SO I'M GOING TO TALK AGAIN ABOUT
THE NIH REFORM ACT OF 2006.
IT WAS REFERENCED YESTERDAY WHEN
DR. SCHWETZ WAS TALKING AN'T
ARPA H AND THE LANGUAGE IN THAT
ACT THAT TALKS THE NEED FOR NO
MORE THAN 27 INSTITUTES AND
CENTERS.
IN ADDITION TO THAT LANGUAGE,
PART OF THE NIH REFORM ACT THERE
IS A DISCUSSION ABOUT THE
INTERNAL REORGANIZATION OF
INSTITUTES AND CENTERS.
THIS IS THE NEED FOR SERIES OF
PUBLIC HEARINGS AND THE APPROVAL
OF DIRECTOR OF NIH TO ALLOW US
TO REORGANIZE DIVISION CENTERS
AND OTHER ADMINISTRATIVE UNITS
WITHIN INSTITUTE OR CENTER.
THIS DOESN'T APPLY TO LOWER
LEVEL TYPES OF ORGANIZATIONAL
CHANGES.
WHICH MIGHT BE CREATING SECTIONS
UNDERNEATH EXISTING DIVISION OR
OFFICE BUT TO ELEVATE OR ADD
DIVISIONS TO ORGANIZAL STRUCTURE
INSTITUTE AN CENTER PARTICULARLY
ONE THAT ADDS REPORTING
STRUCTURE TO THE DIRECTOR
THEMSELVES.
WE ARE REQUIRED TO HAVE TWO
PUBLIC HEARINGS.
AND SINCE DWRAWL ARE KIND ENOUGH
TO HAVE COUNCIL AND OPEN COUNCIL
SESSION WE CHOSE TO JUMP ON IT
AND USE THIS AS ONE OF OUR TWO
PUBLIC HEARINGS.
THANK YOU VERY MUCH FOR THAT.
NEXT SLIDE PLEASE.
HERE YOU WILL SEE AS I THINK WE
STARTED OUR COUNCIL MEETING WITH
EXAMPLE OF ORGANIZATIONAL CHART
LOOKS LIKE.
THIS IS AN ORGANIZATIONAL CHART
THAT IDENTIFIES THE DIVISION OF
PRE-CLINICAL INNOVATION AND
DIVISION OF CLINICAL INNOVATION,
THESE ARE TWO DIVISIONS THAT
CURRENTLY EXIST WITHIN NCATS.
ALL THE OTHER REPORTING UNITS
ARE UNDERNEATH THE NCATS OFFICE
OF THE DIRECTOR AS OFFICES.
SO WE KNOW ABOUT OFFICE OF
STRATEGIC ALLIANCE, THE OFFICE
OF SPECIAL INITIATIVES, WE HAVE
OFFICE OF DRUG DEVELOPMENT
PARTNERSHIP PROGRAMS
TRANSLATIONAL MEDICINE.
IN ADDITION THAT YOU HEARD A LOT
FROM ANNE AND PJ ABOUT RARE
DISEASE RESEARCH.
AND THE FOLKS WHO ARE RUNNING
THIS COUNCIL MEETING IN ADDITION
TO DOING REVIEW AND GRANTS
MANAGEMENT IS THE OFFICE OF
GRANTS MANAGEMENT AND SCIENTIFIC
REVIEW.
SO WHAT WE ARE DISCUSSING TODAY
AND PROPOSING THIS AFTERNOON IS
ACTUALLY THE ELEVATION OF THESE
TWO OFFICES, OF AN
ORGANIZATIONAL LEVEL WITHIN
NCATS TO HIGHEST ORGANIZATIONAL
LEVEL WITHIN NCATS AND CREATING
THE DIVISION OF RARE DISEASES
RESEARCH INNOVATION OUT OF THE
OFFICE OF RARE DISEASE RESEARCH
AND THE DIVISION OF EXTRAMURAL
ACTIVITIES OUT OF THE OFFICE OF
GRANTS MANAGEMENT AND SCIENTIFIC
REVIEW.
AND WITHIN THOSE OFFICES, OGMS
OFFICE OF GRANTS MANAGEMENT AND
SCIENTIFIC REVIEW ALREADY HAVE
TWO SUE BORT NANT PIECES WHICH
ARE GRANTS MANAGEMENT AND
SCIENTIFIC REVIEW PROPOSING
RENAMING THOSE TO GRANTS
MANAGEMENT BRANCH AND SCIENTIFIC
REVIEW BRANCH WITH CREATION OF
THE OFFICE OF DEA DIRECTOR.
SO NEXT SLIDE GO INTO MORE
DETAIL ABOUT WHAT THESE TWO
CHANGES ENTAIL.
MAJORITY OF GRANTS ISSUING
INSTITUTION AND CENTERS AT THE
NIH HAVE THE GRANTS REVIEW
FUNCTION MANAGEMENT BY DIVISION
OF EXTRAMURAL ACTIVITIES.
WE CURRENTLY HAVE OGSR AS I
MENTION WE PROPOSE TO ALIGN
NCATS WITH THE MAJORITY OF THE
OTHER ICs ACROSS NIH BY
CREATING THE PROPOSED STRUCTURE
OF THE DEA DIRECTOR, GRANTS
MANAGEMENT BRANCH AND SCIENTIFIC
REVIEW BRANCH, RENAMING THOSE
AND RENAMING OGMSR TO DIVISION
OF EXTRAMURAL ACTIVITIES, WHICH
WOULD BE OVERSEEN COORDINATED BY
OFFICIAL OFFICE OF DEA DIRECTER
TO.
SO THOSE ARE THE CHANGES THAT WE
ARE PROPOSING TO TAKE PLACE
WITHIN OGMSR AND ELEVATING
DIVISION OF EXTRAMURAL
ACTIVITIES.
WE PROPOSE TO CHANGE TO DIVISION
OF RARE DISEASE RESEARCH
INNOVATION.
ORDR IS PART OF NCATS SINCE
CREATION AND YOU HAVE HEARD A
LOT ABOUT ACTIVITIES THIS
AFTERNOON SO I DON'T HAVE TO GO
INTO DETAIL AND TELL YOU HOW
IMPORTANT ORDR WITHIN NCATS AND
THE FACT THAT DESPITE RARE
DISEASE ARE NOT RARE YOU KNOW
THAT ALREADY.
WE ARE SEEKING TO ELEVATE OFFICE
TO DIVISION FURTHER REINFORCE
IMPORTANCE OF THE WORKS BEING
DONE AND ALLOW FOR
SPECIALIZATION FOR CREATION OF
OPERATING BRANCH WITHIN THIS
PROPOSED DIVISION.
THE BRANCHES THAT ARE BEING
PROPOSED ARE ADVANCE
THERAPEUTICS AND RESEARCH BRANCH
OR ATRB AND THAT BRANCH FOCUSES
ON THERAPEUTICS.
AND THE SECOND BRANCH WOULD BE
COLLABORATIVE RESEARCH
INFORMATICS AND SPECIAL PROGRAMS
BRANCH WHICH WOULD BE
ABBREVIATED AND YOU CAN TALK TO
PJ ABOUT THINKING OF THE
ABBREVIATION OF THAT, JUST TURNS
OUT TO SUM THAT WAY BUT FOCUSED
ON INFORMATICS.
SO THIS WOULD ENABLE MORE
TARGETED APPROACH TO STAFFING
AND OPERATIONS IN THIS PROPOSED
DIVISION.
NEXT SLIDE PLEASE.
I WANT TO TELL YOU ABOUT
DELEGATION OF AUTHORITY FOR
APPROVAL ONCE PUBLIC HEARING
PROCESS IS OVER AND THE TWO
PUBLIC HEARING SESSION WE WILL
BE HAVING, AND PROVIDE WE DON'T
HAVE COMMENTS THAT REALLY SAY WE
SHOULDN'T BE DOING THIS, THAT IS
NOT THE CASE.
THE CHANGE FROM OGMSR TO DEA IS
DONE BY NIH DEPUTY DIRECTOR FOR
MANAGEMENT, DR. ALFRED JOHNSON
REPORTS TO THE ACTING NIH
DIRECTOR DR. TABAK.
CHANGE FROM ORDR TO DRI IS MORE
TRICKY GOING BACK TO NIH BEFORE
2006 BECAUSE REFORM ACT PUT IN
LEGISLATIVE LANGUAGE THE NAME
OFFICE OF RARE DISEASES
RESEARCH.
SO ONCE WE HAVE APPROVAL OR WE
HAVE RECEIVED COMMENTS FROM THE
PUBLIC HEARING PROCESS, WE WILL
HAVE TO GO TO THE SECRETARY OF
HHS TO SEEK APPROVAL TO CHANGE
THE NAME FROM OFFICE OF RARE
DISEASE RESEARCH TO DIVISION OF
RARE DISEASE RESEARCH INVASION.
THEN FORMULATE LEGISLATION WILL
HAVE TO BE PASSED FOLLOWING
APPROVAL FROM SECRETARY BECERRA
SO THAT WOULD BE THE PROCESS
FOLLOWING THE PUBLIC COMMENT
PERIOD.
NEXT SLIDE PLEASE.
AS WE TALK ABOUT THE
OPPORTUNITIES FOR PUBLIC COMMENT
THIS IS ONE OF THEM.
THERE WILL BE COUNCIL PUBLIC
COMMENT OPPORTUNITIES THAT CAN
BE SAID TO BE EMAIL TO THE EMAIL
YOU SEE HERE AND NCATS COUNCIL
INPUT@MAIL.NIH.GOV YOU DON'T
HAVE TO WRITE THAT DOWN THAT YOU
HAVE THIS INFORMATION AVAILABLE
TO YOU.
IF YOU WISH TO SUBMIT COMMENTS
AFTER THE PRESENTATION THIS
AFTERNOON.
AND YOU HAVE UNTIL FEBRUARY 5
PUBLIC THIS HEARING IS NOW UNTIL
FEBRUARY 5 TO SUBMIT PUBLIC
COMMENT ON THESE RELATED
CHANGES.
IN ADDITION WE ARE SEEKING
PUBLIC COMMENT THROUGH NCATS
PUBLIC FACING WEBSITE.
AND WE DO HAVE THE WEB ADDRESS
HERE AND YOU CAN FIND THAT
THROUGH NCATS.NIH.GOV.
THERE IS INFORMATION THERE
ASSOCIATED WITH THIS THAT YOU
ARE WELCOME TO LIKE AT AS WELL.
WE HAVE A PROCESS FOR SUBMITTING
FEEDBACK THROUGH THE WEBSITE.
AND THAT FEEDBACK WILL BE
REVIEWED, WEEK OF JANUARY 21ST,
AND SUMMARIZE FOR THE RESPECTIVE
ORGANIZATIONAL CHANGE PACKAGES
FOLLOWING THAT.
SO HOPEFULLY I HAVE ONLY TAKEN
15 MINUTES OF YOUR TIME THIS
AFTERNOON, I THINK THAT IS MY
LAST SLIDE, WE TALK ABOUT THE
PROPOSE REORGANIZATIONAL CHANGES
AND I WILL CERTAINLY PROVIDE YOU
WITH THE OPPORTUNITY FOR ANY
QUESTIONS OR DISCUSSION AS WELL
SO THANK YOU.
>> SOUND LIKE A GREAT IDEA.
>> THANK YOU, KEITH, AND THANK
YOU, MARSHALL.
COMMENTS, OTHER COMMENTS?
>> ALL SOUND LIKE A GOOD IDEA.
JUST HAVE A QUESTION ABOUT THE
NAME OF THE DIVISION OF
(INAUDIBLE) INNOVATION, SO I'M
WONDERING IF RESEARCH INVASION
NARROWS A BIT TOO MUCH TO WE
NEED THE MOD FIE THE RESEARCH.
-- MODIFY THE RESEARCH.
THIS IS THE ONLY HOME WE HAVE
OFFICIALLY AT THE NIH FOR RARE
DISEASES.
AND ALL THE INNOVATION AT NIH IS
REALLY CENTERED AND SO MUCH OF
WHAT WE HAVE TALKED ABOUT TODAY
IS NOT JUST ABOUT RESEARCH,
REALLY ABOUT DATA COLLECTION AND
DIAGNOSTIC AND NEWBORN SCREENING
AND OTHER THINGS BUT CERTAINLY
DO HELP MOVE THE RESEARCH NEEDLE
TO DO SOME OF THE OTHER THINGS
FOR THE RARE DISEASE COMMUNITY.
SO WITHIN THE LARGER CHARGE OF
NIH AND HEALTH WONDERING P WE
NEED THE RESEARCH MODIFIER IN
THE TITLE.
>> THAT IS GREAT QUESTION.
WE TALKED ABOUT WHETHER OR NOT
WE WOULD DIVISION OF RARE
DISEASE AND DIVISION OF RARE
DISEASE RESEARCH INVASION.
IT IS INTERESTING THOSE ARE TWO
WE WANTED BACK AND FORTH.
GO AHEAD.
>> I THOUGHT YOU WERE DONE.
I'M SORRY.
I WAS GOING TO SAY WE ARE
WORRIED ABOUT THE ACRONYM.
>> YOU ALREADY SAID IT.
>> I KNOW NIH IS DOING RARE
DISEASE SO (INAUDIBLE)
>> WE ARE DOING THE DIRTY WORK.
CARRYING THE LOAD.
>> NO, THANK YOU.
WE -- THAT WAS ONE OF THE
CONVERSATIONS THAT WE HAVE HAD
BACK AND FORTH AND WE WELCOME
ANY OTHER POTENTIAL OTHER
OPPORTUNITIES THAT WOULD CAPTURE
THAT NAME.
I SEE PJ IS ON SCREEN AS WELL SO
I DON'T KNOW PJ YOU WANT TO ADD
TO THAT.
>> NO I MOVED PLACES SO HAPPY
THE HEAR PEOPLE'S THOUGHTS.
>> THANK YOU.
>> YOU CAN GO WITH DIVISION OF
RARE INNOVATION, DRIVE.
>> I WOULD HOPE THAT INVASION
WOULDN'T BE RARE, MARSHALL.
-- INNOVATION WOULDN'T BE RARE
MARSHALL.
>> WE WILL CERTAINLY TAKE THIS
INTO CONSIDERATION THINKING
ABOUT WE CAN ALSO MOVE THE EYES
AND THE Ns AND ALL THAT AROUND
OR Ds ALL AROUND.
>> DIVISION OF RARE -- DIVISION
OF INNOVATION AND RARE DISEASE.
>> RIGHT.
>> NOT WHAT YOU INTEND TO SAY.
YOU ARE -- ELIMINATING RARE
DISEASE BECAUSE IF YOU PUT RARE
DEERS RESERGE ININNOVATION AT
END IT'S NOT CLEAR.
IT QUOWB INNOVATIONS AT LARGE AS
OPPOSED TO INNOVATION IN RARE
DISEASE.
>> WE ARE AT THE END OF LONG
WEEK AND ASK US US TO BE
CREATIVE.
>> WE FIGURED LATE FRIDAY
AFTERNOON WE GET THE MOST
POSSIBILITIES FOR AFTERNOON,
THAT WAS ANOTHER --
>> SINCE I CAME UP WITH THE
NCATS ACRONYM ORIGINALLY, NOBODY
WILL GIVE CREDIT FOR ME, WE
SHOULD LISTEN TO ME.
>> RAJESH YOU DID A GREAT JOB.
>> ALL I THOUGHT ABOUT FOR THAT
PARTICULAR FATEFUL NIGHT WHEN I
SENT THE EMAIL WAS HERDING CATS
UNFORTUNATELY.
>> I THINK AS WE ARE TRYING TO
GET THE IDEA THAT NCATS IS PLACE
FOR RARE DISEASE, AT THE NIH AND
SO I REALLY DO WANT TO GET THAT
POINT ACROSS, IT IS A HOLISTIC
IDEA.
WE DO RESEARCH AT THE NIH OF THE
COURSE AND SO I THINK HOW WE
THINK ABOUT MAYBE THE ACRONYMS
AREN'T AS IMPORTANT OR IF WE
PICK ONE THAT IS A LITTLE ODD WE
EMBRACE THAT AND WE USE IT.
SO I THINK WE HAVE A LOT TO
CONSIDER.
WE HOPE FIRST AND FOREMOST WE
CAN ELEVATE THIS TO A DIVISION
BECAUSE THAT TO US SEEMS REALLY
IMPORTANT, REALLY ON PAR WITH
EVERYTHING ELSE THAT WE ARE
DOING AT THE NIH.
SO THAT IS THE GOAL HERE.
WE WILL GET THE ACRONYM RIGHT.
I HOPE.
>> ANY OTHER COMMENTS ON THIS?
THANK YOU VERY MUCH FOR THAT,
THANKS.
>> THANK YOU ALL.
>> THAT CONCLUDES THE
PRESENTATIONS FOR TODAY.
AND THE PRESENTATIONS FOR THE
29TH NCATS COUNCIL MEETING.
SO FIRST AND FOREMOST BEFORE WE
CLOSE OUT I WANT TO OPEN UP TO
THE FLOOR TO SEE IF THERE ARE
ANY OTHER ADDITIONAL COMMENTS OR
QUESTIONS OR IDEAS, AND THEN
MORE I GUESS TIMELY IS A CHANCE
TO SAY AGAIN KRISTINA, THANK YOU
SO MUCH FOR YOUR WORK ON
COUNCIL, WE ARE GOING TO MISS
YOU, WE'LL MISS YOUR VOICE BUT I
DO LOOK FORWARD TO WORKING WITH
YOU IN YOUR NEW POSITION.
THANK YOU AGAIN FOR JOINING US
TODAY.
I'M SO GLAD YOU WERE ABLE TO
MAKE IT TODAY AND THANKS FOR
YOUR EFFORTS ON THIS COUNCIL.
>> THANK YOU, JONI.
I APPRECIATE ALL THE WORK YOU
GUYS ARE DOING AND JUST THE
CHAMPIONS WE HAVE FOR RARE
DISEASE NCATS IS INCREDIBLE.
THRILLED TO HAVE WORKED WITH YOU
AND KNOW Y'ALL AND LOOK FORWARD
TO WORKING WITH YOU UNOFFICIALLY
IN MY CAPACITY AT THE ALLIANCE.
>> THANK YOU VERY MUCH.
>> OPEN UP THE FLOOR AND SEE IF
THERE ARE ANY OTHER QUESTIONS OR
COMMENTS GOING FORWARD.
OKAY.
SOUNDS LIKE YOU ARE READY TO GO,
HAVE A GOOD WEEKEND.
I REALLY APPRECIATE AGAIN ALL OF
YOUR COMMENTS OVER THE LAST
COUPLE OF DAYS, MY HEAD IS
SWIMMING, IT WILL BE SWIMMING
THIS WEEKEND.
I VERY MUCH APPRECIATE YOUR
IDEAS AND INPUT ON THE THREE
GOALS WE WILL CONTINUE TO HONE
THOSE.
I FEEL EMPOWERED EVEN MORE SO TO
DO THAT WITH YOUR ENTHUSIASM AS
WELL.
THANK YOU FOR THAT SPECIFICALLY.
WE LOOK FORWARD TO SEEING YOU IN
MAY.
THANK YOU, EVERYONE.