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.
