Drugmakers and advocacy groups are eyeing the FDA’s reconsideration of rare disease treatments in the coming months, searching for signals of a shift on products that struggled to secure approval under previous leadership
Food and Drug Administration Acting Commissioner Kyle Diamantas and senior leaders met behind closed doors in June and July with several rare disease groups to reaffirm the agency’s commitment to advancing critical treatments. The agency also recently convened an advisory committee to evaluate whether it should approve Capricor Therapeutics Inc.’s Deramiocel, an experimental therapy targeting Duchenne muscular dystrophy
The moves come after former FDA chief Marty Makary departed the agency in May after a tumultuous tenure marked by rejections or reversals on several rare drug applications, including Deramiocel. At least 23 complete response letters, notices determining the FDA can’t approve a product in its present form, have been issued since 2025 for rare therapies
Those determinations now sit under new agency leaders as regulators are slated to issue decisions or reconsider certain treatments in the next few months, giving fresh optimism to industry that FDA will pivot from previous moves
“There’s been a clear return to more science-based analyses of new therapeutics and clinical data to support approvals,” said Vinny Jindal, president and chief executive officer of Secretome Therapeutics, who’s working with the FDA to develop a treatment for Duchenne. “It’s a challenging job for the FDA to set standards, but when they do, it’s imperative they stick with them.”
The FDA has approved hundreds of drugs for rare diseases, but developing them remains a challenge due to regulatory requirements that are often unfeasible for medicines treating smaller patient populations. Some hurdles include limited clinical trial designs and few natural history studies that show the progression of a disease
The FDA launched a newsletter in July focused on rare diseases, in which Diamantas touted the agency’s path forward in making treatments available “with urgency and scientific rigor.”
“We remain fiercely committed to our medical mission, specifically for the rare disease community,” an FDA spokesperson said in an email. “We will continue to champion a set of flexible, science-based drug review standards to bring life-changing therapies to patients who cannot afford to wait.”
Upcoming Decisions
A handful of drugs are getting another shot at approval as the agency rescinds earlier setbacks
The FDA determined in June that existing data for Regenxbio Inc.’s gene therapy for Hunter syndrome could support an accelerated approval application, walking back a previous rejection that cited trial design issues
UniQure NV’s three-year analysis of a key trial would also be enough to support a forthcoming application for its gene therapy targeting Huntington’s disease, the FDA said that same month, reversing a decision that demanded another study
“We are encouraged by what we’ve seen,” the Huntington’s Disease Society of America, which met with the FDA in July, said in an email. “The FDA already has tools to exercise scientific flexibility, including the consideration of natural history data, innovative trial designs, and patient preference information.”
Other companies are awaiting an FDA decision after resubmitting an application that was previously rejected
Ultragenyx Pharmaceuticals Inc. is expecting a decision Sept. 19 for its Sanfilippo syndrome Type A treatment, and Saol Therapeutics Inc. is expecting a decision by Dec. 30 for its therapy to treat pyruvate dehydrogenase complex deficiency
“We’re really hopeful and it seems like things are moving in the right direction from our perspective,” said Dave Penake, CEO of Saol Therapeutics
Meanwhile, obtaining approval still remains an uphill battle for some companies, even with the agency’s renewed attention
“The CRL completely changed our path,” Linda Marbán, CEO of Capricor, said July 29 to the FDA advisory panel reviewing Deramiocel. “We are now fighting for the life of this therapeutic on the basis of a timeline that has been misconstrued.”
The committee concluded there wasn’t substantial evidence of effectiveness to approve Capricor’s therapy. While the panel can make recommendations, the FDA makes the final determination on the application
The agency, which also questioned Capricor’s application, is slated to issue a decision by Aug. 22
“The review team has not made the final decision on this application or else we would not have convened an advisory committee,” Karim Mikhail, acting director of the Center for Biologics Evaluation and Research, said at the meeting. “The reason we are here today is to discuss the key challenges and significant uncertainties we have encountered during our review process.”
Flexible Framework
Drugmakers continue to urge the FDA for more adaptive approaches, while also pledging to maintain high standards for safety and effectiveness
They’re also asking for consistency after encountering a moving bar in the last year as regulators raised or changed benchmarks for some drugs
“Rare diseases require bespoke endpoints,” Jindal said. “It’s important for FDA, especially in rare diseases where they have to de, the caregiver, and the sponsor to be flexible and define endpoints that are feasible.”
Groups meeting with the FDA have pressed the agency to consider more patient perspectives in its decisions
“Patient experience should inform every stage of drug development, not just isolated to meetings,” said Pamela Gavin, CEO of the National Organization for Rare Disorders, which met with the FDA in June. “If you’re going to look at new pathways, the patient voice should be included. If you’re going to look at training FDA staff, the patient voice should be included.”
“There was a blip in the road,” Gavin said. “But I feel like the train’s back on track and it’s moving in the right direction with good momentum.”
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