The Barth Syndrome Foundation (BSF) is a patient advocacy organisation dedicated to saving lives through research aimed at curing Barth syndrome, advancing therapies, and providing education. In September 2025, elamipretide was approved by the USFDA for treating Barth syndrome, which is marketed under the brand name FORZINITY. The FDA has authorised this medication as the first treatment for Barth syndrome.
After years of challenges, the Executive Director of BSF thanked and applauded the FDA for taking this action in response to Stealth Bio Therapeutics’ new drug application. While the approval is a major step forward, it currently applies only to patients weighing 30 kg or more and excludes younger pediatric patients.
Every person with Barth syndrome should have full access to therapy; hence, BSF collaborated with regulatory bodies, the sponsor Stealth, and physicians. The Sponsor has pledged to close the gap by maintaining enhanced access for children under 30 kg. Stealth collaborates with the FDA to generate the data necessary to expand the label to all age groups. BSF also welcomed Stealth’s commitment to maintain an Expanded Access Program (EAP), which guarantees continuity of care for patients in urgent need and those already on therapy.
No FDA-approved medications and no additional therapies in late-stage clinical research were available prior to this approval. According to clinical research, elamipretide can increase cardiac function by 40% and mitochondrial function and muscular strength by 45% in individuals with Barth syndrome.
Elamipretide has been administered to several patients who experienced severe cardiac distress through FDA-approved emergency access. Patients and their families, those affected by Barth syndrome, along with leading advocacy organisations, have worked together with BSF to highlight the urgent need for treatment and the lack of alternatives. They focused on enhancing clinical outcomes and quality of life for patients with Barth syndrome.
The small patient population makes it difficult to collect sufficient data, posing a challenge to the treatment of very rare diseases. The BSF has contributed more than $7 million USD and generated over $41 million USD in additional funding from external sources to advance global scientific efforts aimed at reducing the suffering and mortality associated with Barth syndrome.
For families and individuals with Barth syndrome, BSF offers lifelong personal support, educational seminars, and partnerships with specialised medical professionals to establish treatment, care, and quick diagnosis standards. The FDA’s approval of elamipretide represents meaningful progress, offering hope for expanded treatment options in the future and reinforcing the importance of continued collaboration in the fight against Barth syndrome.
Reference: Barth Syndrome Foundation. FDA Approves First Medication for Barth Syndrome. Published on September 19, 2025. Accessed on September 24, 2025. FDA Approves First Medication for Barth Syndrome : Home : Barth Syndrome Foundation
