The FDA Rejected a Rare Disease Treatment. Patients Say the Cost Is Their Future.
For people living with spinocerebellar ataxia (SCA), time is not an abstract concept.
It shows up in the space between walking independently and needing support. Between speaking clearly and struggling to be understood. Between living on your own and wondering how long that will remain possible.
So, when the U.S. Food and Drug Administration announced it would not approve Vyglxia (troriluzole), a potential treatment for SCA with positive data showing slowing of disease progression from a real-world evidence study, many patients and caregivers did not experience the news as a regulatory update. They experienced it as something personal.
‘Disappointing for the community’
In its public response, the National Ataxia Foundation described the decision as disappointing for the SCA community. The organization emphasized that people living with ataxia currently have no FDA-approved treatments and that any delay carries a unique cost in progressive rare diseases.
NAF acknowledged the FDA’s responsibility to ensure safety and effectiveness. That responsibility matters to patients and families. At the same time, the foundation urged regulators to more fully incorporate patient experience, urgency, and the realities of rare disease research into how decisions are made.
For many in the SCA community, that urgency is shaped by decades of generational experience.
“My family has spinocerebellar ataxia type 3,” said Jaclyn White, a medical social worker who lives with SCA. “I’ve seen the whole progression in my aunts and uncles. Out of eight siblings, six were diagnosed. My father was the last of the six to pass.”
She described the disease in terms familiar to many families.
“You start with a cane,” Jaclyn said. “Then a walker. Then a wheelchair. And eventually you need full-time adult support.”
This is the context patients bring with them when new treatments are evaluated. It is not abstract hope. It is informed urgency.
A gap between promise and practice
In recent years, the FDA has spoken openly about wanting to be more flexible and patient-centered when evaluating treatments for rare diseases. Agency leaders have highlighted the importance of real-world evidence, novel trial designs, and deeper engagement with patient communities. They have also acknowledged that traditional large placebo-controlled trials are often unrealistic for rare conditions. Congress has gone a step further by passing both the 21st Century Cures Act (Public Law 114-255) and the ACT for ALS (Public Law 117-79) which specifically includes provisions aimed at providing regulatory flexibility for the development and approval of treatments for rare diseases, especially neurodegenerative diseases like SCA that are life-threatening and have no current approved therapy.
That messaging has offered hope to rare disease communities.
Which is why this decision felt especially difficult.
In reviewing troriluzole, the FDA cited concerns about study design, particularly the use of real-world data and external comparisons rather than a traditional placebo group. From a regulatory perspective, those concerns reflect long-standing frameworks built for the research of common diseases that don’t have the same challenges associated with studying rare diseases.
From a patient perspective, the disconnect is painful.
Rare diseases do not pause while systems debate methodology. Progression of symptoms and worsening neurologic decline do not wait for perfect data.
What benefit looks like in daily life
Biohaven, the company behind troriluzole, said it was extremely disappointed on behalf of patients and pointed to over 8 years of research suggesting the drug could meaningfully slow disease progression and a comprehensive database establishing its safety. Several neurologists who work directly with people living with SCA echoed concerns that waiting for ideal data can come at the cost of irreversible loss.
For patients, benefit is often measured not in charts, but in daily moments.
“When I was given the opportunity to take this medication, it wasn’t a negotiation,” Jaclyn said. “I was taking it.”
The changes she noticed were simple, but meaningful.
“My balance is there,” she said. “I can put on not one, but two pant legs without needing a wall behind me.”
“It sounds small,” she added, “but I remember thinking, ‘Oh my gosh, this medication is working.’”
Those moments reshaped how she thought about her future.
“I started to believe I had a future,” Jaclyn said. “For almost ten years, I didn’t think that was an option.”
What waiting means now
The FDA has indicated it wants to evolve its approach to rare disease regulation. Patients and advocates are listening closely to see how those commitments translate into practice.
For now, the decision not to approve troriluzole means waiting continues.
“And now that future feels uncertain again,” Jaclyn said, “because I may not have access to this medication.”
Most patients understand the FDA’s role. Many say they respect it. What they are asking for is alignment between stated goals around flexibility and patient-centered review and how those principles show up when decisions are made.
Holding space for safety and urgency
This moment does not need to become a standoff. It can be a conversation.
It can be an opportunity for regulators, researchers, companies, and patients to ask difficult but necessary questions together. What does meaningful benefit look like to someone living with this disease? How should uncertainty be weighed when the alternative is guaranteed decline? How can flexibility be applied without sacrificing trust or safety?
Jaclyn offered her own perspective, as a social worker for children in underserved areas.
“I serve one of the most underserved populations,” she said. “Rare disease goes unnoticed, under-responded to, and under the radar. Those are the same kids I work with every day.”
“The way I show up for my students,” Jaclyn added, “I want the FDA to show up for me with this medication.”