Patients With a Progressive Rare Disease Have a Message for the FDA
“Even if it’s not perfect, even if it just slows the progression of the disease a little, it’s worth it.”
“Any little progress is better than what is available now.”
“Give me a chance, please.”
Those statements come from people living with spinocerebellar ataxia, or SCA, and from caregivers who responded to a large community survey conducted by the National Ataxia Foundation. The survey was completed before the Food and Drug Administration reviewed Biohaven’s application for an SCA treatment, troriluzole, and before the agency declined to approve it.
SCA is a rare, progressive neurological disease that gradually takes away balance, coordination, speech, and independence. There are currently no treatments approved by the FDA to slow or stop its progression.
For regulators, benefit is typically defined through clinical endpoints and statistical thresholds. For people living with SCA, benefit is defined by whether they can stand without falling, speak clearly, or hold on to independence a little longer. Those definitions are often not aligned. What’s even more frustrating for individuals with SCA is that the troriluzole external control study submitted in the NDA filing was positive – the trial statistically achieved the study’s primary and secondary endpoints, but the FDA said that aspects of the design and methodological bias prevented approval. As the FDA weighs whether to reconsider its decision on Biohaven’s SCA treatment, patients say that gaps between regulators and the patient community has never mattered more.
When Not Getting Worse Is Progress
SCA does not progress in straight lines. Symptoms worsen over time, often unevenly, and vary from person to person. For many people living with the disease, simply not getting worse represents meaningful progress.
That perspective is reflected in qualitative research with people living with SCA. In interviews, patients most often identified problems with speech, balance, and walking as both the most common symptoms and the most disruptive to daily life, affecting basic activities, physical function, sleep, and social engagement. When asked to prioritize what mattered most in tracking disease progression, patients consistently pointed to walking and speech.
Those findings closely mirror what respondents emphasized in the NAF survey. Many did not describe improvement. They described stability.
“I did not get worse.”
“If my mother could have done one thing independently, held a spoon, moved herself from a chair, uttered a word, it would have made all the difference.”
Patients framed benefit in terms of preserving function. Fewer falls. Clearer speech. A longer stretch of independence. These changes shape daily safety and quality of life, even when they are difficult to capture through standardized clinical measures.
How Living With SCA Shapes Risk
Living with a progressive, incurable disease changes how people think about risk. Without treatment, decline is expected. Doing nothing is not a neutral option.
Survey respondents repeatedly acknowledged uncertainty and said they were willing to accept it. One person living with advanced SCA wrote,
“Any risk would be worth it. What have I to lose? My life is spiraling down at this stage.”
Others emphasized choice rather than certainty.
“Patients should be given the choice to make informed decisions on available therapies,” one respondent wrote.
In the NAF survey, the overwhelming majority of respondents said they would want the option to try a drug even if its chance of benefit were uncertain. Many made clear they were not expecting dramatic improvement. They were hoping for time.
What Clinicians See in Practice
Clinicians who treat people with spinocerebellar ataxia describe similar patterns. SCA is untreatable and devastating, and care is largely limited to managing symptoms as the disease progresses.
Clinicians involved in treating people with SCA have noted that the disease typically follows a predictable course of gradual decline, making stability over time clinically meaningful when compared with expected progression. For clinicians, stabilization in a progressive disease is not trivial. It can mean fewer falls, preserved speech, and delayed loss of independence, even if those changes do not register as dramatic improvement.
That clinical perspective mirrors what patients describe in daily life and underscores why some argue that traditional measures may miss changes that matter most.
Asking for Review, Not Shortcuts
Patients and families responding to the survey were clear about what they are not asking for. They are not asking regulators to ignore safety, for guarantees or for standards to be abandoned.
They are asking for full consideration of available data, even when trials are imperfect. They are asking for regulatory flexibility in a disease with no approved treatments. They are asking for lived experience to be considered alongside clinical endpoints.
“All information should be completely reviewed prior to making a decision,” one respondent wrote.
“Any little progress is better than what is available now,” wrote another.
A Definition of Benefit Rooted in Real Life
For people living with SCA, meaningful benefit does not look like a cure. It looks like stability and more years with fewer losses layered on top of one another.
It looks like standing without falling. Eating without choking. Speaking without rehearsing every word. Staying independent for as long as possible.
One respondent in the NAF survey, whose father had passed away from SCA, addressed regulators directly, writing,
“I do not know if I will face the same demise or if my children will suffer. I understand the standard you want to hold drugs to, but even if this could benefit in the smallest way, you have no idea what it would mean to families suffering from this.”