Barth Syndrome Foundation Responds to FDA's Proposed 'Path Forward' for Elamipretide

Families face more delay despite dire need, strong data and years and years of effort

The Barth Syndrome Foundation (BSF) today responded to new developments from the U.S. Food and Drug Administration (FDA) regarding elamipretide, a potential treatment for the ultra-rare and life-threatening condition.

Despite an already lengthy review and a 10-6 favorable FDA Cardiovascular and Renal Drugs Advisory Committee vote last October, the FDA now has indicated to Stealth BioTherapeutics that the agency will not approve the current application for this drug. However, for the first time, the agency issued a written recommendation outlining a potential path to accelerated approval based on previously submitted data showing more than 45 percent improvement in muscle strength and its correlation with increased physical function.

“It’s unconscionable that it now will take even longer for the FDA to rule on this drug for our very small population with no other specific therapies,” said Emily Milligan, executive director, Barth Syndrome Foundation. “This administration has sent strong signals it’s serious about defining a process that works for rare disease families. Now is the time to deliver. We need FDA leadership to take strong, decisive action and put an end to the hemming and hawing. This literally translates into life, death and better lives for our children.”

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 mitochondrial function and boost muscle strength by 45 percent and heart function by 40 percent 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, mostly infants, in acute cardiac distress have received elamipretide through emergency access requests approved by the FDA.

Despite the extensive safety record and strong vote of the advisory committee, the FDA has not granted approval. Nearly 20 percent of U.S. patients with Barth syndrome are currently receiving elamipretide through an expanded access program.

The FDA’s current proposed path, unfortunately, excludes the sickest babies, who make up a majority of those currently receiving the drug through emergency access. Over half of deaths in Barth syndrome occur in the first few years of life. Yet the FDA has declined to include these patients in the potential approval path, citing a lack of feasibility for pre-approval studies.

“No safety concerns have been raised, and the agency acknowledged the difficulty of conducting traditional trials in a disease this rare,” Milligan said. “Still, families are left in limbo, waiting on a treatment that medical experts, patient experiences and common sense overwhelmingly support.”

More than 50 clinicians and nearly 20,000 people from across the globe have signed letters and petitions over the last few years urging the FDA to approve elamipretide without further delay. Their views echo the lived experience of families and patients who have endured years of uncertainty.

“With no approved therapies and limited access to treatment, every day of inaction carries a devastating cost,” Milligan said. “The FDA made a promise to our community—to conduct a fair, thorough and equitable review of elamipretide through the advisory committee process. That promise remains unfulfilled.”

Stories Behind the Science

Families from across the country continue to fight for access to a treatment that could mean survival. Their stories offer a powerful reminder of what is at stake:

• In Mississippi, a mother describes her desperate effort to keep her son alive with no other options: "Mississippi’s Heartbeat"
• In California, one physician’s 3 a.m. call from the ICU leads to a life-saving intervention: "In the ICU at 3 a.m."
• In Ohio, a family spanning two generations shares what this drug means to them: "Two Generations, One Drug"
• In Texas, a newborn’s life is saved just in time by emergency access: "A Life Saved in the Nick of Time"
• In Georgia, one family measures survival in milligrams and urgency: "A Life Measured in Milligrams"
• In New York, a 13-year fight shows what resilience in rare disease looks like: "Too Rare to Care"
• And in Oklahoma, one young man explains why elamipretide is the drug that gave him his life back: "Walker Burger’s Fight"

Each of these families speaks with one voice: the time to approve this treatment is now.

About Barth Syndrome Foundation (BSF)

Barth Syndrome Foundation and our international affiliates comprise the only global network of families, health care 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 and catalyzed more than $41.4 million in funding from other sources to advance global scientific discoveries. BSF also provides a lifeline to families around the world through individualized support, educational conferences, a patient registry, and collaborations with expert providers to define standards of care, treatment, and rapid diagnosis.

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"We need FDA leadership to take strong, decisive action and put an end to the hemming and hawing. This literally translates into life, death and better lives for our children."