Barth Syndrome Foundation Calls for Urgent FDA Action Following Elamipretide Delay

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 issued the following statement in response to learning the U.S. Food and Drug Administration (FDA) will delay its decision on the New Drug Application for elamipretide as a treatment for Barth syndrome.

“We are deeply disappointed by this further delay but remain hopeful the FDA is taking the time needed to complete a thorough and thoughtful review,” said Emily Milligan, BSF executive director. “This therapy has been in development for more than a decade, and for many individuals living with Barth syndrome—including children receiving it under emergency access—it has offered real and lasting benefit. We urge the FDA to stay focused on completing this review, provide a clear new decision date, and approve the therapy for all Barth patients, regardless of age. Our community continues to wait with urgency, hope and resolve, and we are grateful to those at the FDA and within the Administration who are working to get this right.”

Last October, the U.S. Food and Drug Administration (FDA) Cardiovascular and Renal Drugs Advisory Committee, by a 10-6 vote, concluded that elamipretide is effective for the treatment of Barth syndrome, thereby supporting approval of the New Drug Application for elamipretide to treat Barth syndrome.

Barth syndrome is an ultra-rare, life-threatening genetic disorder primarily affecting males. There are 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. Most 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, along with leading advocates from the United Mitochondrial Disease Foundation, MitoAction, Friedreich’s Ataxia Research Foundation, PolG Foundation, and Children’s Cardiomyopathy Foundation, have joined the Barth Syndrome Foundation in stressing the critical need for this treatment and the lack of alternatives. They collectively urge the FDA to approve elamipretide, emphasizing its potential to significantly enhance the quality of life and outcomes for patients with Barth syndrome.

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 $7 million USD and catalyzed over $41.4 million USD in funding from other sources 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.

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