Families of children with a rare genetic disease are pleading with federal regulators to move faster on approving a potentially lifesaving treatment, warning that further delays could cost young lives.
Seven-month-old Gilbert Dryden of Aurora, Colorado, is among the children whose survival hinges on an experimental drug called elamipretide. Diagnosed with Barth syndrome shortly after birth, Gilbert suffers from a disorder that severely impairs energy production in cells, leading to heart failure, extreme muscle weakness, and shortened life expectancy. Most children with the condition do not live past the age of five.
“There’s a vial count in our refrigerator — that’s how long we know Gilbert has to live,” said his mother, Madison Dryden. “It’s the highest level of desperation.”
A Drug Caught in Regulatory Delays
Elamipretide, developed by Massachusetts-based Stealth BioTherapeutics, has shown promising results in small clinical trials. Patients reported significant improvements in heart and muscle function, and many have safely remained on the therapy for more than eight years. The drug is the first of its kind to target Barth syndrome, which affects only about 150 people in the United States.
In October 2024, an FDA advisory committee voted 10-6 in favor of approval. Yet the agency declined to clear the drug in May, citing undisclosed concerns. Earlier, FDA inspectors flagged problems at a Stealth manufacturing facility, though the company said those issues have been resolved.
The FDA has since told Stealth to resubmit its application — the third such request — possibly through an accelerated approval pathway. That process, however, could stretch the review timeline by at least six months, leaving families like the Drydens in limbo.
Families and Advocates Sound Alarm
Advocates say the regulatory hurdles are especially daunting for ultra-rare diseases where large clinical trials are impossible. “Our kids are dying. We have seen that this drug works,” said Kate McCurdy, co-founder of the Barth Syndrome Foundation. “This drug totally saves the lives of babies.”
Two infants with Barth syndrome died in the past week alone, according to the foundation.
Members of Congress are also applying pressure. Rep. Buddy Carter (R-Ga.) said he has urged the FDA for clarity. “There aren’t many options out there,” he said. “For Barth syndrome, elamipretide is really the only drug that we know of that works.”
A Race Against Time
For Gilbert’s doctors, the uncertainty is alarming. Dr. Kathryn Chatfield, a pediatric cardiologist and geneticist at Children’s Hospital Colorado, warned that without treatment, patients face rapid decline. “We just don’t know what’s going to happen,” she said. “Some children may need transplants, but that doesn’t fix the underlying muscle problems.”
Families say they feel trapped between bureaucratic process and medical urgency. “I can’t be OK with sacrificing my child’s life for paperwork,” Madison Dryden said.
As parents count down dwindling supplies of the experimental drug, they say the question of approval has become more than a policy matter — it is a matter of survival.
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