‘Save Our Patients’ Lives’: Ataxia Expert Blasts FDA at Rare Disease Hearing
At a U.S. Senate hearing on Thursday examining the FDA’s handling of rare disease therapies, one of the country’s leading ataxia experts delivered a stark assessment of the agency’s review process.
“The members of the panel were like talking to a brick wall.”
Dr. Jeremy Schmahmann, a neurologist at Harvard Medical School and founding director of the Ataxia Center at Massachusetts General Hospital, testified before the Senate Special Committee on Aging. The hearing focused on whether the FDA’s current approach to reviewing rare disease therapies aligns with the flexibility Congress intended when it passed orphan drug and accelerated approval laws.
For the spinocerebellar ataxia community, the stakes were clear.
‘Rigid and Inflexible and Unyielding’
Schmahmann described three separate interactions with FDA review panels regarding Biohaven’s investigational therapy, troriluzole, which the agency declined to approve in late 2025.
He told senators that outside experts presented data and clinical experience showing benefit in a progressive neurological disease with no approved treatments. In his view, those arguments were not meaningfully engaged.
“They did not seem to see the suffering of the patients, and they didn’t hear the science,” he said. “They were rigid and inflexible and unyielding.”
He added that one panel member asked him, “Why should I listen to you?”
Schmahmann recounted writing six letters to FDA leadership between 2023 and 2025, co-signed by 17 expert colleagues, requesting that the agency reconsider aspects of its review and collaborate on a path forward. He said he never received a response.
He testified that earlier in the development process, the FDA had worked with the company on study design and endpoints. Later, however, he said the agency shifted course and raised concerns about the use of real world evidence and external control data after the application was filed.
The FDA ultimately issued a Complete Response Letter, citing methodological concerns and requesting additional data.
According to Schmahmann, conducting a new placebo controlled trial could take five to eight years.
“In a progressive neurodegenerative disease, that is time our patients do not have,” he told lawmakers.
He warned that hundreds of patients receiving the therapy through extension programs could lose access without a regulatory solution.
The Science and the Standards
Biohaven’s application relied in part on real world evidence comparing treated patients to an external control cohort. Schmahmann testified that the data showed statistically significant slowing of disease progression on the primary endpoint and multiple secondary measures.
He argued that in conditions like spinocerebellar ataxia, where patient populations are small and progression varies widely, traditional large placebo controlled trials are often difficult and sometimes ethically complex.
For families living with SCA, the impact of delay is cumulative. The disease affects coordination, speech, swallowing and mobility. Decline is irreversible.
Throughout the hearing, Schmahmann framed the issue as more than a scientific disagreement. He described a progressive neurodegenerative disease with no approved treatment and patients who measure time not in quarters or review cycles, but in function preserved or lost.
For people living with SCA, regulatory timelines are not abstract. They are deeply personal.
Wider Concerns Across the Rare Disease Ecosystem
Schmahmann’s remarks were echoed by other panelists who described growing concern within the rare disease community about inconsistent review practices, late emerging data requests, and what some see as hesitation to use tools Congress explicitly authorized to speed development for rare conditions, including accelerated approval pathways and the use of external control data.
Sen. Kirsten Gillibrand, the committee’s ranking member, noted that Congress has granted the FDA considerable flexibility in rare disease policy. The question raised at the hearing was whether that flexibility is being applied consistently in practice.
Sen. Ron Johnson reacted emotionally after hearing testimony from clinicians and patient advocates. “It enraged me,” he said. “That these families, these patients, are being denied effective treatments because of regulatory roadblocks.”
Patient advocates also pointed to broader trends. Several referenced what they described as an increase in Complete Response Letters, formal rejections requiring additional data, for rare disease therapies. These include programs reviewed under accelerated pathways, alongside a decline in advisory committee meetings for complex or contested decisions.
An FDA spokesperson has previously stated that the agency remains committed to ensuring therapies are safe and effective and that decisions are based on scientific standards.
But the hearing made clear that a growing number of clinicians, patients and lawmakers believe the conversation about rare disease flexibility is far from settled.
What Happens Now?
For the ataxia community, the hearing marked a rare moment of direct accountability.
A leading neurologist stood before the Senate and said the FDA had not heard the science or the suffering. He described years of outreach without response. He pleaded with lawmakers to intervene: “Senators, please, save our patients’ lives.”
Congress can decide whether rare disease flexibility is more than language in statute. The FDA can decide whether engagement with clinicians and patients changes in practice.
Patients, however, do not have the luxury of choosing when their disease progresses.
If the system is working as intended, this week’s testimony will be remembered as oversight in action.
If it is not, families will remember it as another moment when they were heard, but not helped.