‘Bureaucratic Idiocy’: FDA Faces Bipartisan Pressure on Rare Disease Drugs
Frustration with how the Food and Drug Administration reviews rare disease treatments has been building for months among patients, researchers, and biotechnology companies.
Now that frustration is moving into the open, and in a rare moment in Washington the concern is coming from both parties.
In recent weeks, lawmakers have questioned the agency’s decisions at Senate hearings, a former FDA commissioner has warned that the review process has lost experienced judgment, a key regulator tied to several controversial rulings has announced his departure, and a Senate investigation has been launched into recent drug rejections.
For families who have already run out of time to wait, the question is whether this pressure will come soon enough.
Rare disease advocates say the agency already has the authority to show flexibility when trials are small and data is limited. Recent disputes over gene therapies, neurological drugs, and one case involving sham brain surgery have forced that debate into the open.
A former FDA chief warns the system is losing experience
At the CNBC Cures Summit in New York a few weeks ago, former FDA commissioner Scott Gottlieb, who led the agency from 2017 to 2019 under President Donald Trump, said decisions involving rare diseases often require judgment that goes beyond traditional clinical trial data.
“These are situations where data sets are imperfect, you are dealing with small trials, and you are dealing with randomization against natural history studies rather than placebo-controlled trials,” Gottlieb said. “It requires a lot of judgment and a willingness to accept some uncertainty.”
He warned that recent staff departures inside the agency mean the FDA has lost experienced judgment in some of its reviews.
“When you lose the people who have been doing this for a long time, and they continue to lose that caliber of personnel, it starts to affect review decisions,” he said.
Gottlieb pointed to a decline in approvals through the accelerated approval pathway, one of the main tools used for serious and rare diseases, as a sign that something may be changing.
In 2024 the agency approved 20 drugs through accelerated approval. Last year only nine were approved through the same pathway.
“That is a pretty big drop in just one year,” he said. “You are seeing the effects of losing experienced reviewers play out in these decisions.”
Senate hearing highlights rare disease frustrations
Those concerns were echoed a few weeks ago during a Senate hearing examining the FDA’s review process for rare disease therapies.
Dr. Jeremy Schmahmann, a neurologist who studies spinocerebellar ataxia, described efforts to work with the agency on the drug troriluzole, which has been studied as a treatment for the progressive neurological disorder but has not received approval.
“I have written six letters to FDA leadership asking the agency to review the application again, and I have never heard back,” he testified.
Schmahmann said the experience of working with the agency felt like talking to a brick wall.
He told senators that patients who had been stable on the drug during studies could lose access after the application was rejected.
“Now 300 patients stable on troriluzole will have to come off the drug, and they are destroyed,” he said.
Lawmakers from both parties questioned whether the system was working the way Congress intended.
“Congress has provided the agency with significant regulatory flexibility,” Senator Kirsten Gillibrand said during the hearing. “But it is not working the way it should.”
Leadership change adds to sense of turning point
The debate intensified after the announcement that Vinay Prasad, director of the FDA’s Center for Biologics Evaluation and Research, will step down at the end of April after overseeing several recent high-profile drug review decisions.
His tenure coincided with a series of disputes over rare disease and gene therapy applications that drew criticism from patient groups, lawmakers, and biotechnology companies, who said the agency had become harder to work with on therapies for small patient populations.
The FDA has not said his departure was tied to those disputes, but it comes as scrutiny of the agency’s decisions has increased and as former regulators and members of Congress have questioned whether the review process has become too rigid.
Analysts noted that shares of several companies developing rare disease treatments rose after news of the change, reflecting expectations that the regulatory environment could become more predictable under new leadership.
For many advocates, the reaction showed how closely the rare disease community is watching the agency’s next moves.
Congress opens investigation into recent rejections
The pressure on the FDA is now moving beyond hearings and public criticism.
Bloomberg reported this week that Senator Ron Johnson of Wisconsin has opened an investigation into recent FDA decisions involving rare disease and gene-therapy treatments, raising questions about whether the agency has become overly rigid in its reviews.
Analysts at the investment firm H.C. Wainwright said in a research note that at least five cell and gene therapies could have been approved under prior FDA leadership but instead faced additional requirements or delays, according to reporting on the investigation.
One of the most closely watched cases involves AMT-130, a gene therapy developed by uniQure for Huntington’s disease, a terminal, neurodegenerative condition.
The treatment is delivered through brain surgery in which small holes are drilled in the skull to infuse the therapy directly into the brain. The FDA asked the company to conduct another trial that could include a sham surgery, meaning patients would undergo the operation, including drilling into the skull, but would not receive the experimental treatment.
“The community is not looking for any shortcuts. They want drugs to be safe and effective, and they want to uphold scientific rigor,” said Amy Gray, president and CEO of the Huntington’s Disease Society of America (HDSA), adding that they “just want the FDA to honor their previous guidance.” Huntington advocates delivered two petitions with 48,000 signatures to the FDA.
Johnson criticized the agency’s approach, calling the request “bureaucratic idiocy.”
The dispute has become a symbol for many in the rare disease community of what they see as a shift toward a more rigid regulatory climate, and a test of whether that approach will continue under new leadership.
With a senior regulator departing, bipartisan scrutiny growing, and multiple drug decisions under investigation, the coming months could determine whether the FDA returns to the flexibility Congress intended for rare-disease treatments, or continues down a path that has left many patients waiting.