The FDA is failing uncommon illness sufferers. I’m one among them.
I’ve been on elamipretide for 3 years now. It’s the solely therapy that has made a significant distinction in my life with major mitochondrial myopathy—a degenerative genetic situation that impairs how my cells convert meals and oxygen into power. Mitochondria present over 90 p.c of the power our our bodies want; after they fail, the highest-demand tissues—like muscle, mind, and coronary heart—are hit the toughest. For me, that has meant profound fatigue, muscle weak spot, shortness of breath, double imaginative and prescient, and severely decreased stamina. There isn’t any accepted disease-modifying therapy—solely supportive care. The illness is terminal, and till now, no remedy has reached this level in providing actual potential to alter its course.
Earlier than sickness compelled me to step again, I used to be a medical oncologist and doctor scientist. For over 20 years, I labored at a big tutorial medical heart within the Japanese United States, the place I helped advance most cancers care and led a Most cancers Survivorship Program. Now I discover myself on the opposite facet of the system I as soon as served.
For the final three years, I’ve obtained a drug known as elamipretide by an expanded entry program (the U.S. Meals and Drug Administration, or FDA, defines “expanded entry” as “a possible pathway for a affected person with a severe or instantly life-threatening illness or situation to achieve entry to an investigational medical product for therapy exterior of medical trials when no comparable or passable different remedy choices can be found”). Though I proceed to depend on an influence wheelchair and ventilator, elamipretide has helped me regain talents I had misplaced—like dressing and bathing—and keep a higher degree of independence at residence. By stabilizing bodily methods that had been in any other case in decline, it has allowed me to contribute extra meaningfully to every day life, enabling my household to proceed their work and routines, and decreasing the necessity for extra intensive and dear care—easing pressure on each our family and the broader well being system.
Elamipretide is the primary remedy to succeed in this stage of assessment for major mitochondrial ailments. Up to now, elamipretide has been utilized in medical trials and expanded entry applications around the globe—encompassing over a whole bunch of collected affected person‑years of publicity—offering significant actual‑world security and efficacy information. And now, with out clarification, the FDA is liable to ending all of it.
This isn’t about grudges: It’s in regards to the extremely advanced FDA regulatory cycle we’re caught in across the improvement of elamipretide for Barth syndrome, a associated ultra-rare situation that additionally falls beneath the class of major mitochondrial illness. Here’s a transient overview: the primary New Drug Utility (NDA), filed in 2019, was rejected for not assembly endpoints. For each that and the following NDAs, the FDA supplied steering on endpoint choice, however there have been variations in perspective between the company and the sponsor concerning how finest to measure significant therapy profit in such a uncommon and variable illness. The second NDA was submitted in January 2024 and positioned by the FDA into the usual (full) approval pathway, with precedence assessment designation. After demonstrating significant medical profit with minimal toxicity and incomes a good advisory vote in November 2024, the FDA denied the applying in June 2025—recommending as a substitute that the corporate submit a 3rd NDA however this time beneath the accelerated approval pathway. The Stealth firm that manufactures elamipretide is in search of reconsideration from the FDA, and the FDA’s ultimate determination is predicted in early August of 2025.
Why is that this related?
With out well timed approval, the expanded entry framework—together with therapy for folks like me—is liable to being discontinued. Though medical trials are ongoing for major mitochondrial myopathy, elamipretide can not stay in manufacturing with out an accepted indication producing earnings from insurers. If Barth syndrome shouldn’t be accepted, the producer will probably be compelled to cease manufacturing—seemingly inside months—together with for these of us at the moment receiving it by expanded entry (Stealth has already carried out a 30 p.c personnel discount). That’s not a dramatic risk—it’s simply enterprise actuality.
Any approval—accelerated or full—would enable elamipretide to stay in manufacturing. However solely full approval ensures the drug might be accessed reliably, reimbursed by insurers, and shielded from the sort of regulatory uncertainty that surrounds accelerated approval. It could additionally enable for important subsequent steps, like dose refinement and stratification by illness development—improvements inconceivable with out a basis of approval.
Some have argued that the FDA can’t approve a remedy just because sufferers are struggling—that it should adhere strictly to traditional proof requirements. However nobody is asking the FDA to desert rigor. Elamipretide for Barth syndrome has met the FDA-defined endpoints and earned a good advisory vote. Moreover, it additionally holds FDA orphan drug designation, formally recognizing the situation as uncommon, severe, and missing satisfactory therapies. The Orphan Drug Act was established many years in the past to facilitate approval of therapies for ailments too uncommon to fulfill conventional trial measurement or endpoint expectations. The FDA’s personal Uncommon Illness Steering affirms that it could settle for higher uncertainty and encourages using pure historical past, real-world information, and modern trial designs—exactly the pliability warranted right here.
What’s worse is that this isn’t nearly one drug. If the FDA walks away from elamipretide, it should ship a chilling message to researchers and builders: investing in uncommon ailments is just too dangerous. Why take an opportunity on a remedy that will by no means be accepted—even when it proves secure and useful?
Uncommon illness doesn’t discriminate. It might contact any household, any little one, at any time. And when it does, households need to know that our regulatory system gained’t abandon them. The science is right here. The security is confirmed. The necessity is simple.
We’re asking the U.S. Meals and Drug Administration to rethink its denial of elamipretide and grant full, conventional approval—the primary ever for major mitochondrial illness. Doing so would honor the advisory committee’s advice, uphold the usual NDA pathway the FDA itself chosen, and fulfill the intent of the Orphan Drug Act. We additionally urge the FDA to approve the drug with broad labeling, so that every one acceptable sufferers—not only a slim trial subset—can entry a remedy that has demonstrated significant profit. No extra delays. No extra deferrals. No extra round obstacles. This isn’t nearly one drug—it’s about whether or not we’re prepared to meaningfully advance therapy for (extremely) uncommon ailments in any respect.
G. van Londen is a medical oncologist, geriatrician, and doctor scientist.
