BOSTON (September 19, 2025) – The Barth Syndrome Foundation (BSF), the only patient advocacy organization solely dedicated to saving lives through education, advances in treatments, and finding a cure for Barth syndrome, today announced that the U.S. Food and Drug Administration’s (FDA) approved elamipretide, now trademarked as FORZINITY, for the treatment of Barth syndrome. This is the first drug to be approved by the FDA for use in Barth syndrome.
“We are grateful for and applaud this incredible step that was reached expeditiously by the FDA after Stealth BioTherapeutics’ (Stealth) most recent new drug application and following years of circuitous challenges. We also never would have arrived at this milestone without the persistence of Stealth,” said Emily Milligan, MPH, Executive Director of BSF. “We have worked tirelessly to support this outcome, and today is a day to celebrate - although much work remains.”
Labeled for individuals weighing 30 kilograms (kg) or more, the approval does not yet include younger pediatric patients who are commonly the most medically fragile. BSF remains committed to continue working with regulatory agencies, the sponsor Stealth BioTherapeutics (Stealth), and clinicians to pursue label expansions and ensure every individual with Barth syndrome—regardless of age—has the opportunity to access treatment.
While Stealth works with the FDA to provide data needed to expand the label to include all ages, the Sponsor has agreed to provide a critical stop gap in care and continue providing expanded access to children weighing less than 30 kg who are currently receiving treatment or require emergency access. “This regulatory journey has been a daily exercise of resilience,” says Shelley Bowen, BSF Director of Family Services and Advocacy. “For the past two years our community has tearfully pleaded to be heard in hundreds of Congressional meetings. Today, some of those pleas have been heard. While access for our most vulnerable population remains incomplete, we are deeply grateful for Stealth’s commitment to provide an Expanded Access Program (EAP) for this population to make sure that emergency cases and individuals who are already on the therapy will have access. They are doing right by our community while we continue to push for approval for all ages.”
Barth syndrome is an ultra-rare, life-threatening genetic disorder primarily affecting males. Until today and this approval, there have been no FDA-approved treatments and no other therapies in late-stage clinical development. Clinical studies show elamipretide can improve mitochondria function and boost muscle strength by 45% and heart function by 40% in patients with Barth syndrome. More than half of all patients from the original trial continue to take and benefit from this therapy more than eight years after initiating treatment. Many more individuals in acute cardiac distress have received elamipretide through emergency access requests approved by the FDA.
Individuals and families affected by Barth syndrome, and leading advocacy organizations including EveryLife Foundation for Rare Diseases, the United Mitochondrial Disease Foundation, MitoAction, and many others, have joined the Barth Syndrome Foundation in stressing the critical need for this treatment and the lack of alternatives. They collectively urged the FDA to approve elamipretide, emphasizing its potential to significantly enhance the quality of life and outcomes for patients with Barth syndrome.
“The significant regulatory challenges we have faced to get to today are not ours alone,” says Kate McCurdy, Chair of the BSF Board of Directors. “All of those in the ultra-rare disease community face immense hurdles to getting treatments for our patients, simply due to the consequences of our having, by definition, very small numbers of patients from whom to collect data. We all want therapies that are safe and effective, but sometimes it is entirely appropriate to broaden the sorts of approaches that can be taken and the kinds of information that will be included when making those determinations. We are very grateful that the FDA now seems to be on a road to positive reform that will allow more reasonable pathways forward in these circumstances, and we hope that this approval today gives others hope.”
About Barth Syndrome Foundation (BSF)
Barth Syndrome Foundation and our international affiliates comprise the only global network of families, healthcare providers, and researchers solely driven by the mission to save lives through education, advances in treatments and finding a cure for Barth syndrome. Considered a role model in rare disease advocacy, BSF has funded >$7M USD and catalyzed over $41M USD in funding from other sources (excluding clinical trials) to advance global scientific discoveries to end the suffering and loss of life from Barth syndrome. Additionally, BSF provides a lifeline to families and individuals living with Barth syndrome around the world, offering individualized support, educational conferences, a patient registry and collaborations with specialist healthcare providers to define standards of care, treatment and rapid diagnosis.
