Patients with ultra‑rare diseases fear new FDA rules may leave them without treatment
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Imagine living with a disease so rare that only a few dozen people in the country even share your diagnosis.
Now imagine the only medication that’s ever worked is still not approved, and might disappear before you can get more.
That’s the situation families face with ultra-rare diseases, where small patient populations make drug trials nearly impossible. New FDA guidelines are raising hard questions about how we balance evidence, urgency, and hope.
A rare disease in the US affects fewer than 200,000 people, but ultra-rare diseases might only impact a few dozen.
For these conditions, there are often no approved treatments, no large trials, and no second chances.
Elamipretide, a drug developed by Stealth BioTherapeutics, is one such example—targeting mitochondrial disorders that affect energy production at the cellular level. With few alternatives in the pipeline, patients and their families are now deeply concerned.
Hope Filchak, a four-and-a-half-year-old girl from Georgia, is deaf and blind but still loves swimming and playing outside.
She was born with MLS syndrome, a mitochondrial condition so rare that only 64 cases had been documented in the US as of 2018.
Earlier this year, her energy collapsed, she was sleeping 17 hours a day, and her speech began to regress.
“Pretty soon, honestly, she had a lot more energy,” said her mother Caroline, after starting elamipretide—adding that her heart stabilized and her daughter began running and dancing again.
Stealth BioTherapeutics first submitted the drug for FDA review in 2019, after acquiring it from Barth syndrome advocates in 2014.
Also read: Have you heard of "Zombie Deer Disease"? Should we be worried about it spreading to humans?
The approval journey has stretched through four different divisions inside the FDA and has faced repeated obstacles.
In October 2024, an advisory committee voted 10–6 to recommend approval, prompting optimism among patients and caregivers.
“Patients and families saw the [advisory committee’s] endorsement as an encouraging sign because the FDA almost always follows its recommendation,” said Hope’s aunt, Anna Bower.
But in May 2025, the FDA rejected the application, saying the drug failed to meet its endpoint in phase 2 trials with only 12 participants.
“We don’t feel like they looked at a totality of evidence where the patient’s voice was heard in the decision,” said Caroline Filchak, who said it's nearly impossible to generate traditional trial data for a disease this rare.
The FDA did offer an alternative path to approval, but that process could take many months or even years. After the rejection, Stealth laid off 30% of its staff and may not survive to resubmit.
The new pathway also bars access for infants, even though two-thirds of the 35 patients currently receiving elamipretide globally are very sick babies.
“For children like Hope, there are no other options,” said Bower, emphasizing that no FDA-approved medications or similar drugs are even in late-stage development.
Also read: Is your mouth hiding the cause of Alzheimer’s disease?
Families now face the real possibility of running out of supply before the FDA makes another decision. At a congressional hearing in June, Rep. Buddy Carter raised Hope’s case directly to Health Secretary Robert F. Kennedy Jr., asking for immediate action.
FDA Commissioner Marty Makary recently pledged to speed up select approvals and has mentioned using machine learning to review applications.
But experts say the problem isn’t the speed of review—it’s the difficulty in proving efficacy when so few patients exist.
“It’s not the poster child of FDA efficiency,” said Holly Fernandez Lynch, a bioethicist at the University of Pennsylvania. “But it’s also not the poster child of ‘Oh my God, we have a drug that works amazingly well, and FDA is standing in the way, and why won’t they just use their regulatory flexibility?’”
The agency must base its decisions on hard data, not anecdotal success, even when it hurts. “If the evidence doesn’t support approval, if the systematic evidence collection doesn’t show benefit, then FDA really can’t approve it,” Fernandez Lynch said.
She warned that approving drugs without adequate evidence could harm future efforts to develop treatments for similar diseases. “The FDA has to make judgments for the population,” she added.
Caroline Filchak continues to advocate for her daughter and other children like her, even bringing her son Thomas to an FDA meeting last fall. “You don’t, when you think about having a kid, think that you’re going to be doing this, but you do what you’ve got to do for your kids,” she said.
Thomas now prays nightly for the FDA to say yes, and the family is doing everything they can to keep Hope’s supply going. “We call him our baby advocate,” Caroline said.
Read next: Are you eating this popular food? Doctors say it could be linked to Parkinson’s disease
What do you think the FDA should prioritize when it comes to ultra-rare diseases—rigorous data or urgent access? Share your thoughts, experiences, or questions in the comments below, and help elevate the voices of families still waiting for answers.
Now imagine the only medication that’s ever worked is still not approved, and might disappear before you can get more.
That’s the situation families face with ultra-rare diseases, where small patient populations make drug trials nearly impossible. New FDA guidelines are raising hard questions about how we balance evidence, urgency, and hope.
A rare disease in the US affects fewer than 200,000 people, but ultra-rare diseases might only impact a few dozen.
For these conditions, there are often no approved treatments, no large trials, and no second chances.
Elamipretide, a drug developed by Stealth BioTherapeutics, is one such example—targeting mitochondrial disorders that affect energy production at the cellular level. With few alternatives in the pipeline, patients and their families are now deeply concerned.
Hope Filchak, a four-and-a-half-year-old girl from Georgia, is deaf and blind but still loves swimming and playing outside.
Patients with ultra‑rare diseases fear new FDA rules may leave them without treatment. Image source: Caroline Filchak / Instagram
She was born with MLS syndrome, a mitochondrial condition so rare that only 64 cases had been documented in the US as of 2018.
Earlier this year, her energy collapsed, she was sleeping 17 hours a day, and her speech began to regress.
“Pretty soon, honestly, she had a lot more energy,” said her mother Caroline, after starting elamipretide—adding that her heart stabilized and her daughter began running and dancing again.
Stealth BioTherapeutics first submitted the drug for FDA review in 2019, after acquiring it from Barth syndrome advocates in 2014.
Also read: Have you heard of "Zombie Deer Disease"? Should we be worried about it spreading to humans?
The approval journey has stretched through four different divisions inside the FDA and has faced repeated obstacles.
In October 2024, an advisory committee voted 10–6 to recommend approval, prompting optimism among patients and caregivers.
“Patients and families saw the [advisory committee’s] endorsement as an encouraging sign because the FDA almost always follows its recommendation,” said Hope’s aunt, Anna Bower.
But in May 2025, the FDA rejected the application, saying the drug failed to meet its endpoint in phase 2 trials with only 12 participants.
“We don’t feel like they looked at a totality of evidence where the patient’s voice was heard in the decision,” said Caroline Filchak, who said it's nearly impossible to generate traditional trial data for a disease this rare.
The FDA did offer an alternative path to approval, but that process could take many months or even years. After the rejection, Stealth laid off 30% of its staff and may not survive to resubmit.
The new pathway also bars access for infants, even though two-thirds of the 35 patients currently receiving elamipretide globally are very sick babies.
“For children like Hope, there are no other options,” said Bower, emphasizing that no FDA-approved medications or similar drugs are even in late-stage development.
Also read: Is your mouth hiding the cause of Alzheimer’s disease?
Families now face the real possibility of running out of supply before the FDA makes another decision. At a congressional hearing in June, Rep. Buddy Carter raised Hope’s case directly to Health Secretary Robert F. Kennedy Jr., asking for immediate action.
FDA Commissioner Marty Makary recently pledged to speed up select approvals and has mentioned using machine learning to review applications.
But experts say the problem isn’t the speed of review—it’s the difficulty in proving efficacy when so few patients exist.
“It’s not the poster child of FDA efficiency,” said Holly Fernandez Lynch, a bioethicist at the University of Pennsylvania. “But it’s also not the poster child of ‘Oh my God, we have a drug that works amazingly well, and FDA is standing in the way, and why won’t they just use their regulatory flexibility?’”
The agency must base its decisions on hard data, not anecdotal success, even when it hurts. “If the evidence doesn’t support approval, if the systematic evidence collection doesn’t show benefit, then FDA really can’t approve it,” Fernandez Lynch said.
She warned that approving drugs without adequate evidence could harm future efforts to develop treatments for similar diseases. “The FDA has to make judgments for the population,” she added.
Caroline Filchak continues to advocate for her daughter and other children like her, even bringing her son Thomas to an FDA meeting last fall. “You don’t, when you think about having a kid, think that you’re going to be doing this, but you do what you’ve got to do for your kids,” she said.
Thomas now prays nightly for the FDA to say yes, and the family is doing everything they can to keep Hope’s supply going. “We call him our baby advocate,” Caroline said.
Read next: Are you eating this popular food? Doctors say it could be linked to Parkinson’s disease
