Seven-month-old Gilbert Dryden’s parents are counting vials of medication in their refrigerator, fearing their son’s supply may not last beyond October. Gilbert has Barth syndrome, a rare genetic condition that causes heart failure, severe muscle weakness, and dramatically shortens life expectancy. Most children with the disease do not live past age five.
For Gilbert, an experimental drug called elamipretide has been a lifeline. Developed by Stealth BioTherapeutics, the therapy has shown promise in small studies, improving both muscle strength and heart function in patients. Families and advocates say it is the only treatment that offers real hope for children with Barth syndrome, which affects just 150 people in the United States.
“This drug saves lives,” said Kate McCurdy, co-founder of the Barth Syndrome Foundation. “Without it, our kids are dying.”
But after more than a decade of research, elamipretide remains stuck in regulatory limbo. Despite an FDA advisory panel’s 10–6 vote recommending approval last year, the agency rejected the drug in May without publicly explaining its decision.
Stealth has faced repeated hurdles with the FDA. An earlier inspection cited issues at a manufacturing facility, though the company says those problems have since been resolved. In June, following another meeting with regulators, the agency informed the company it would need to resubmit its drug application for the third time. While the FDA suggested using its “accelerated approval” pathway, the process could delay access for at least six more months.
The uncertainty has left families like the Drydens devastated. “When we heard this news, we immediately checked how many vials we had left,” said Gilbert’s mother, Madison, of Aurora, Colorado. “That’s the only guarantee we have right now that our son won’t die.”
Doctors treating Barth patients say the delay is especially concerning given the lack of alternatives. “Without this therapy, these children face a high risk of heart failure, hospitalization, and potentially needing transplants,” said Dr. Kathryn Chatfield, a pediatric cardiologist at Children’s Hospital Colorado.
Barth syndrome almost exclusively affects boys and is caused by a defect in mitochondrial function—the tiny “power plants” inside cells. Standard treatments, such as heart medications, can manage symptoms but do not address the underlying cellular damage. Elamipretide, given as a daily injection, works by repairing mitochondria. In long-term studies, some patients have safely taken it for more than eight years.
Families and advocates argue the drug’s small patient population makes traditional large-scale trials nearly impossible. “It is virtually impossible to get data that meets the standard level of statistical certainty,” McCurdy explained.
The FDA’s rejection has drawn scrutiny from lawmakers, including Rep. Buddy Carter (R-Ga.), who has pressed the agency for answers. “This is really the only drug we know of that works for Barth syndrome,” Carter said. “Time is of the essence.”
Meanwhile, Stealth warns that ongoing delays could threaten its ability to continue development. For families, each day without approval feels like a race against time.
“I can’t be OK with sacrificing my child’s life for a bureaucratic process,” said Madison Dryden.
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