Rome Foundation

EDUCATION AND PUBLIC AWARENESS FOR THE NEURODEVELOPMENTAL DISORDER RETT SYNDROM

CORNELIA DE LANGE SYNDROME EDUCATION AND AWARENESS FOR FAMILIES PROFESSIONALS AN

NATIONAL CENTER ON BIRTH DEFECTS AND DEVELOPMENTAL DISABILITIES DIRECTED SOURCE

EDUCATION AND PUBLIC AWARENESS FOR THE NEURODEVELOPMENTAL DISORDER RETT SYNDROME

2026 SCIENTIFIC AND MEDICAL CONFERENCE ON BARTH SYNDROME: NAVIGATING THE TRANSITIONFROM PROOF-OF-CONCEPT TO CLINICAL PRODUCT - PROJECT SUMMARY BARTH SYNDROME (BTHS) IS AN ULTRA-RARE (~350 INDIVIDUALS IDENTIFIED WORLDWIDE), LIFE-LIMITING GENETIC DISORDER CHARACTERIZED BY CARDIOMYOPATHY, SKELETAL MUSCLE MYOPATHY, NEUTROPENIA, GASTROINTESTINAL ISSUES, AND DEBILITATING FATIGUE [1]. IN SEPTEMBER 2025, FDA GRANTED ACCELERATED APPROVAL OF FORZINITY™ (ELAMIPRETIDE) FOR U.S. PATIENTS ³30 KILOGRAMS IN WEIGHT [2]. ALTHOUGH THIS MARKS A CRITICAL MILESTONE IN THE THERAPEUTIC LANDSCAPE, THE DRUG IS NOT CURATIVE AND THERE REMAINS SUBSTANTIAL CLINICAL UNMET NEED. MORTALITY DISPROPORTIONATELY AFFECTS YOUNG CHILDREN, WITH DEATHS PRIMARILY DRIVEN BY CARDIAC- RELATED CLINICAL MANIFESTATIONS [3-4], YET THE DRUG IS ONLY APPROVED FOR INDIVIDUALS ~12 YEARS AND OLDER. DRUG DEVELOPMENT FOR THIS ULTRA-RARE CONDITION IS INCREDIBLY CHALLENGING, HAMPERED BY LIMITATIONS IN RESOURCES AND INSUFFICIENT COMMERCIAL INTEREST CONSIDERING THE SMALL NUMBER OF PEOPLE AFFECTED. DESPITE THESE OBSTACLES, THE BARTH SYNDROME FOUNDATION (BSF)–A PATIENT GROUP FOR THOSE AFFECTED BY BTHS– HAS MADE ITS MISSION TO SAVE LIVES THROUGH EDUCATION, ADVANCES IN TREATMENTS, AND FINDING A CURE FOR THE DISEASE. A CORNERSTONE PROGRAM FOR BSF TO EVENTUALLY REALIZE THIS MISSION IS THE BIENNIAL SCIENTIFIC AND MEDICAL CONFERENCE ON BARTH SYNDROME. SINCE 2000, BSF HAS HELD A BARTH-FOCUSED BIENNIAL CONFERENCE THAT PROVIDES A UNIQUE OPPORTUNITY TO STIMULATE NEW CLINICAL AND SCIENTIFIC PROGRESS AND FORGE COLLABORATIONS BY BRINGING TOGETHER PHYSICIANS, HEALTHCARE PROVIDERS, RESEARCHERS, AFFECTED INDIVIDUALS, AND THEIR FAMILIES. AT THE PREVIOUS 2024 CONFERENCE, THE THEME WAS CLINICAL TRIAL READINESS, A CRITICAL MILESTONE FOR CONTINUED THERAPEUTIC DEVELOPMENT. MOREOVER, AHEAD OF PUBLICATION, A SEMINAL DISCOVERY WAS ANNOUNCED THAT IDENTIFIED A NOVEL, DRUGGABLE TARGET FOR THERAPEUTIC INTERVENTION [5]. LEVERAGING OUR LEARNINGS AND SUCCESSES FROM 2024, THE THEME FOR 2026 IS “NAVIGATING THE TRANSITION FROM PROOF-OF-CONCEPT TO CLINICAL PRODUCT.” THE “2026 SCIENTIFIC AND MEDICAL CONFERENCE ON BARTH SYNDROME: NAVIGATING THE TRANSITION FROM PROOF- OF-CONCEPT TO CLINICAL PRODUCT,” IS THE ONLY FORUM DEDICATED TO FURTHERING CLINICAL AND SCIENTIFIC PROGRESS IN BTHS THAT BRINGS TOGETHER PHYSICIANS, HEALTHCARE PROVIDERS, RESEARCHERS, AFFECTED INDIVIDUALS AND THEIR FAMILIES. A MAJOR FOCUS OF OUR PROGRAMMING FOR 2026 IS GEARED TOWARD ADVANCING EARLY-STAGE ACADEMIC DISCOVERIES TOWARD CLINICAL APPLICATION, EVALUATING THE THERAPEUTIC AND REGULATORY LANDSCAPE, AND SUPPORTING THE NEW GENERATION OF BTHS RESEARCHERS. THIS IS PARAMOUNT TO OUR COLLECTIVE GOAL OF A WORLD WHERE BTHS NO LONGER CAUSES SUFFERING OR LOSS OF LIFE.

2026 SCIENTIFIC AND MEDICAL CONFERENCE ON BARTH SYNDROME: NAVIGATING THE TRANSITIONFROM PROOF-OF-CONCEPT TO CLINICAL PRODUCT - PROJECT SUMMARY BARTH SYNDROME (BTHS) IS AN ULTRA-RARE (~350 INDIVIDUALS IDENTIFIED WORLDWIDE), LIFE-LIMITING GENETIC DISORDER CHARACTERIZED BY CARDIOMYOPATHY, SKELETAL MUSCLE MYOPATHY, NEUTROPENIA, GASTROINTESTINAL ISSUES, AND DEBILITATING FATIGUE [1]. IN SEPTEMBER 2025, FDA GRANTED ACCELERATED APPROVAL OF FORZINITY™ (ELAMIPRETIDE) FOR U.S. PATIENTS ³30 KILOGRAMS IN WEIGHT [2]. ALTHOUGH THIS MARKS A CRITICAL MILESTONE IN THE THERAPEUTIC LANDSCAPE, THE DRUG IS NOT CURATIVE AND THERE REMAINS SUBSTANTIAL CLINICAL UNMET NEED. MORTALITY DISPROPORTIONATELY AFFECTS YOUNG CHILDREN, WITH DEATHS PRIMARILY DRIVEN BY CARDIAC- RELATED CLINICAL MANIFESTATIONS [3-4], YET THE DRUG IS ONLY APPROVED FOR INDIVIDUALS ~12 YEARS AND OLDER. DRUG DEVELOPMENT FOR THIS ULTRA-RARE CONDITION IS INCREDIBLY CHALLENGING, HAMPERED BY LIMITATIONS IN RESOURCES AND INSUFFICIENT COMMERCIAL INTEREST CONSIDERING THE SMALL NUMBER OF PEOPLE AFFECTED. DESPITE THESE OBSTACLES, THE BARTH SYNDROME FOUNDATION (BSF)–A PATIENT GROUP FOR THOSE AFFECTED BY BTHS– HAS MADE ITS MISSION TO SAVE LIVES THROUGH EDUCATION, ADVANCES IN TREATMENTS, AND FINDING A CURE FOR THE DISEASE. A CORNERSTONE PROGRAM FOR BSF TO EVENTUALLY REALIZE THIS MISSION IS THE BIENNIAL SCIENTIFIC AND MEDICAL CONFERENCE ON BARTH SYNDROME. SINCE 2000, BSF HAS HELD A BARTH-FOCUSED BIENNIAL CONFERENCE THAT PROVIDES A UNIQUE OPPORTUNITY TO STIMULATE NEW CLINICAL AND SCIENTIFIC PROGRESS AND FORGE COLLABORATIONS BY BRINGING TOGETHER PHYSICIANS, HEALTHCARE PROVIDERS, RESEARCHERS, AFFECTED INDIVIDUALS, AND THEIR FAMILIES. AT THE PREVIOUS 2024 CONFERENCE, THE THEME WAS CLINICAL TRIAL READINESS, A CRITICAL MILESTONE FOR CONTINUED THERAPEUTIC DEVELOPMENT. MOREOVER, AHEAD OF PUBLICATION, A SEMINAL DISCOVERY WAS ANNOUNCED THAT IDENTIFIED A NOVEL, DRUGGABLE TARGET FOR THERAPEUTIC INTERVENTION [5]. LEVERAGING OUR LEARNINGS AND SUCCESSES FROM 2024, THE THEME FOR 2026 IS “NAVIGATING THE TRANSITION FROM PROOF-OF-CONCEPT TO CLINICAL PRODUCT.” THE “2026 SCIENTIFIC AND MEDICAL CONFERENCE ON BARTH SYNDROME: NAVIGATING THE TRANSITION FROM PROOF- OF-CONCEPT TO CLINICAL PRODUCT,” IS THE ONLY FORUM DEDICATED TO FURTHERING CLINICAL AND SCIENTIFIC PROGRESS IN BTHS THAT BRINGS TOGETHER PHYSICIANS, HEALTHCARE PROVIDERS, RESEARCHERS, AFFECTED INDIVIDUALS AND THEIR FAMILIES. A MAJOR FOCUS OF OUR PROGRAMMING FOR 2026 IS GEARED TOWARD ADVANCING EARLY-STAGE ACADEMIC DISCOVERIES TOWARD CLINICAL APPLICATION, EVALUATING THE THERAPEUTIC AND REGULATORY LANDSCAPE, AND SUPPORTING THE NEW GENERATION OF BTHS RESEARCHERS. THIS IS PARAMOUNT TO OUR COLLECTIVE GOAL OF A WORLD WHERE BTHS NO LONGER CAUSES SUFFERING OR LOSS OF LIFE.

2024 SCIENTIFIC AND MEDICAL CONFERENCE ON BARTH SYNDROME: BENCHTOP TO TREATMENTS - PROJECT SUMMARY BARTH SYNDROME (BTHS) IS AN ULTRA-RARE (<500 INDIVIDUALS IDENTIFIED WORLDWIDE), LIFE-THREATENING GENETIC DISEASE THAT PRIMARILY AFFECTS MALES. BTHS PATIENTS MAY DEVELOP CARDIOMYOPATHY, SKELETAL MYOPATHY, NEUTROPENIA, FEEDING DIFFICULTIES, GROWTH DELAY, AND/OR DEBILITATING FATIGUE. THERE IS CURRENTLY NO CURE FOR BTHS. SIMILAR TO MANY OTHER RARE DISEASES, DEVELOPING TREATMENTS IS AN IMMENSE CHALLENGE DUE TO LIMITATIONS IN RESOURCES AND INSUFFICIENT COMMERCIAL INTEREST CONSIDERING THE SMALL NUMBER OF PEOPLE AFFECTED. DESPITE THESE OBSTACLES, THE BARTH SYNDROME FOUNDATION (BSF)–A PATIENT ADVOCACY GROUP FOR THOSE AFFECTED BY BTHS–HAS MADE ITS MISSION TO SAVE LIVES THROUGH EDUCATION, ADVANCES IN TREATMENTS, AND FINDING A CURE FOR THE DISEASE. A CORNERSTONE PROGRAM, FOR BSF TO EVENTUALLY REALIZE THIS MISSION, IS THE BIENNIAL SCIENTIFIC AND MEDICAL CONFERENCE ON BARTH SYNDROME. SINCE 2000, BSF HAS HELD A BIENNIAL CONFERENCE THAT PROVIDES A UNIQUE OPPORTUNITY TO STIMULATE NEW CLINICAL AND SCIENTIFIC PROGRESS BY BRINGING TOGETHER PHYSICIANS, HEALTHCARE PROVIDERS, RESEARCHERS, AFFECTED INDIVIDUALS, AND THEIR FAMILIES. THE 2014, 2016, AND 2018 CONFERENCES USHERED IN AN ERA OF SPECIFIC THERAPIES FOR BTHS AND TWO CLINICAL TRIALS, TAZPOWER AND CARDIOMAN. VIRTUAL SYMPOSIA WERE HELD IN 2020 AND 2022, WHERE RESEARCHERS PRESENTED THE FIRST PROOF-OF-CONCEPT FOR AAV GENE THERAPY IN BTHS MOUSE MODELS, EXTANT THERAPIES FOR CARDIOMYOPATHY INCLUDING HEART TRANSPLANTATION, AND PROMISING FINDINGS IN THE ELAMIPRETIDE OPEN LABEL EXTENSION DATA. THE “2024 SCIENTIFIC AND MEDICAL CONFERENCE ON BARTH SYNDROME: BENCHTOP TO TREATMENTS,” PROVIDES A UNIQUE OPPORTUNITY TO STIMULATE NEW CLINICAL AND SCIENTIFIC PROGRESS. AT THE 2024 CONFERENCE, PHYSICIANS, HEALTHCARE PROVIDERS, RESEARCHERS, AND THE AFFECTED COMMUNITY WILL MEET IN AN INTIMATE AND SUPPORTIVE ENVIRONMENT. ALIGNED WITH OUR THEME OF “BENCHTOP TO TREATMENTS,” A NOVEL FOCUS FOR OUR 2024 CONFERENCE WILL BE ON CLINICAL TRIAL READINESS, WHICH IS CRITICAL IN DEVELOPING THERAPIES FOR BTHS TO ACHIEVE THE OVERARCHING GOAL OF A WORLD WHERE BTHS NO LONGER CAUSES SUFFERING OR LOSS OF LIFE.

CDLS SCIENTIFIC SYMPOSIA, COHESIN BIOLOGY AND COHESINOPATHY MEETINGS

2020 SCIENTIFIC AND MEDICAL CONFERENCE ABOUT BARTH SYNDROME

SCIENTIFIC AND MEDICAL CONFERENCE ABOUT BARTH SYNDROME

2018 SCIENTIFIC AND MEDICAL CONFERENCE ABOUT BARTH SYNDROME

2016 SCIENTIFIC AND MEDICAL CONFERENCE ABOUT BARTH SYNDROME

SCIENTIFIC AND MEDICAL MEETINGS ABOUT BARTH SYNDROME

CONSORTIUM FOR AUTISM, NEURODEVELOPMENTAL DISORDERS, ANDDIGESTIVE DISEASES (CANDID) - ABSTRACT THERE IS AN INCREASED PREVALENCE OF GASTROINTESTINAL DISORDERS (GI) IN PATIENTS WITH  NEURODEVELOPMENTAL DISORDERS (NDDS) AND AUTISM.  A DIVERSE SET OF GI CONDITIONS  WITH VERY HIGH PREVALENCE IN THE AUTISM COMMUNITY ARE DEFINED AS FUNCTIONAL  GASTROINTESTINAL DISORDERS (FGIDS) BY INTERNATIONAL CONSENSUS VIA THE ROME IV  CRITERIA, THE SYMPTOMS OF WHICH LIKELY HAVE A NEUROLOGICAL BASIS (2). GI SYMPTOMS  ARE ONE OF THE MAIN DETERMINANTS FOR DECREASED QUALITY OF LIFE IN PATIENTS AND MAY  INCLUDE: GERD, IBS-­-LIKE SYMPTOMS, DYSMOTILITY, CHEWING AND SWALLOWING  DYSFUNCTION, FEEDING DIFFICULTY, GASTROESOPHAGEAL REFLUX, DELAYED GASTRIC EMPTYING,  BILIARY TRACT DISEASE, GAS BLOATING, AND CONSTIPATION (1). THE PREVALENCE OF FGIDS IN  THESE POPULATIONS MAY BE A GROSS UNDER-­-ESTIMATE BECAUSE MANY OF THESE PATIENTS  ARE NONVERBAL AND DO NOT EXPRESS PAIN AND DISCOMFORT NORMALLY (1). FAILURE TO  THRIVE CAN DEVELOP DUE TO FEEDING PROBLEMS AND GROWTH PROBLEMS PERSIST INTO  ADULTHOOD IN SOME DISORDERS. A PERCENTAGE OF INDIVIDUALS WITH NDDS HAVE G-­-TUBES  AND GJ-­-TUBES PLACED TO FACILITATE FEEDING.  PATIENTS ARE OFTEN HOSPITALIZED DUE TO THE  SEVERITY OF SYMPTOMS AND GI SYMPTOM-­-INDUCED STRESS CONTRIBUTES TO INCREASED  SEIZURE FREQUENCY AND SLEEP DISTURBANCE.      THE PROPOSED MEETING “CONSORTIUM FOR AUTISM, NEURODEVELOPMENTAL DISORDERS, AND  DIGESTIVE DISEASES (CANDID)” AIMS TO CONVENE STAKEHOLDERS FROM NIH INSTITUTES,  PATIENT ADVOCACY GROUPS (RETT SYNDROME RESEARCH TRUST, RETTSYNDROME.ORG, DRAVET  SYNDROME FOUNDATION, PHELAN-­-MCDERMID SYNDROME FOUNDATION, PTEN HAMARTOMA  TUMOR SYNDROME FOUNDATION, ADNP KIDS RESEARCH FOUNDATION, DUP15Q ALLIANCE,  ANGELMAN SYNDROME FOUNDATION, SYNGAP EDUCATION AND RESEARCH FOUNDATION,  RING14 USA, INTERNATIONAL FOUNDATION FOR CDKL5 RESEARCH, AUTISM SCIENCE  FOUNDATION, AND AUTISM SPEAKS), AND ACADEMIA IN A COORDINATED EFFORT TO DEVELOP A  SET OF SHORT-­- AND LONG-­-TERM GOALS FOR BOTH BASIC AND CLINICAL RESEARCH IN DIGESTIVE  HEALTH ACROSS AUTISM SPECTRUM DISORDERS AND OTHER NDDS TO INCREASE THERAPEUTIC  DISCOVERY FOR GI DISORDERS IN TRADITIONALLY UNDER-­-FUNDED NEUROLOGICAL RARE DISEASES.   PATIENT ADVOCACY LEADERS WILL PROVIDE NECESSARY AND COMPLEMENTARY INSIGHTS TO THAT  OF CLINICAL AND RESEARCH EXPERTS TO WRITE COMPETITIVE APPLICATIONS TO RELEVANT NIH  ICS, WITH THE POTENTIAL FOR THE CREATION OF CONTENT-­-SPECIFIC INTERDISCIPLINARY RESEARCH  TEAMS.    DURING THE MEETING, WE WILL FORM WORKING GROUPS COMPOSED OF RELEVANT EXPERTS IN  THESE FIELDS, SO THAT AT THE CONCLUSION OF THE CONFERENCE, MOMENTUM FOR THESE GOALS  CAN CONTINUE. SPECIFICALLY, WE AIM TO (1) BEGIN THE DEVELOPMENT OF A CATALOG OF  EXISTING CLINICAL AND GENETIC DATA REPOSITORIES MAINTAINED BY INDIVIDUAL  ORGANIZATIONS WITH RELEVANCE TO EXPLORATORY RESEARCH INTO DIGESTIVE DISEASES IN THE  AUTISM AND NDD COMMUNITY, (2) PUBLISH A SUMMARY OF THE DISCUSSION AND CONSENSUS  IN THE SCIENTIFIC LITERATURE, AND DEVELOP A WEB PAGE AS A RESOURCE FOR SHARED  REPOSITORIES AND FACILITATION OF COLLABORATION, AND (3) INFORM POSTGRADUATE MEDICAL  EDUCATION FOR PEDIATRIC AND ADULT GI FELLOWS FOCUSED ON THE NEEDS OF PATIENTS WITH  ASD.

SCIENTIFIC AND MEDICAL CONFERENCE ABOUT BARTH SYNDROME

RESTLESS LEGS SYNDROME SCIENTIFIC MEETING

2ND COHESIN BIOLOGY AND THE COHESINOPATHIES MEETING