Boston, MA — The Barth Syndrome Foundation is calling on the U.S. Food and Drug Administration to expedite its decision on elamipretide, a potential treatment for the ultra-rare genetic disorder, after learning that the agency has delayed its review of the drug’s approval.
In a statement released this week, BSF Executive Director Emily Milligan expressed disappointment over the delay but urged the FDA to complete its evaluation with urgency. “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,” Milligan said. “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.”
The delay comes months after a positive vote from the FDA’s Cardiovascular and Renal Drugs Advisory Committee, which in October recommended approval of elamipretide by a vote of 10 to 6. Despite that endorsement, no final decision has been announced.
Barth syndrome is a rare and life-threatening mitochondrial disorder that primarily affects males and currently has no FDA-approved treatments. Symptoms include weakened heart function, low muscle tone, growth delays, and serious infections. Elamipretide, developed to target mitochondrial dysfunction, has shown promising results in clinical studies, improving muscle strength by 45% and heart function by 40%. According to BSF, many of the original trial participants continue to take the drug more than eight years later, and others have accessed it under emergency use provisions.
The foundation has been joined by several other advocacy groups—including the United Mitochondrial Disease Foundation, MitoAction, Friedreich’s Ataxia Research Foundation, PolG Foundation, and the Children’s Cardiomyopathy Foundation—in urging the FDA to move forward with approval. Together, they emphasize the lack of alternative treatments and the significant improvements elamipretide has brought to patients’ quality of life.
“The community continues to wait with urgency, hope, and resolve,” Milligan said. “We are grateful to those at the FDA and within the Administration who are working to get this right, but the time to act is now.”
