FDA’s rare disease decisions are strongest when the patient community has a voice in advisory committee decisions.
Public service is about serving people. Yet millions of patients, families and physicians worry that the Food and Drug Administration (FDA) has lost sight of that mission when it comes to approving emerging treatments for the 30 million Americans living with rare diseases.
A recent red flag for the rare disease community was an absence of adcomms for nine months starting in mid-2025 under former FDA leadership. Because advisory committee meetings are a critical forum for reviewing promising therapies, this pause created uncertainty, delayed important discussions, and deepened concerns that urgently needed treatments would face even longer waits.
Newly commissioned adcomms for several products is a start, but more is needed. Adcomms should not just convene medical and scientific experts that aid FDA in assessing benefits and risks of a new treatment; when it comes to rare diseases, they must also include the patient viewpoint.
My work in Duchenne muscular dystrophy research and listening to the rare disease advocacy community helped me realize that the work of adcomms is not just about science, but about humanity—a perspective that matters. That perspective is provided best by patients, their families and other patient advocates, but too often FDA adcomms are missing those voices.
The decisions before advisory committees are rarely simple. Members must sometimes weigh incomplete data, uncertain outcomes and the hopes of patients with devastating diagnoses. The goal is always to protect public health while making promising treatments available to those who need them.
When an adcomm evaluates a rare disease treatment, it should include experts with deep knowledge of that specific disorder and representatives from the patient community who live with its consequences every day. This is not a criticism of the dedicated scientists and physicians who currently serve on these panels but a recognition that rare diseases present unique challenges that often do not fit neatly into traditional regulatory frameworks.
Standard approval pathways were designed for common diseases affecting large patient populations. Rare diseases are different. Clinical trials may be limited to only dozens or hundreds of patients. Natural history data that track untreated disease progression may be limited as recruiting participants can take years these patients do not have.
Expertise in general medicine is not the same as expertise in a specific rare disease. Understanding disease progression, risk tolerance, clinical endpoints and meaningful outcomes requires specialized knowledge. And yet, with most rare diseases, patients live with realities that cannot be fully captured in charts, spreadsheets and briefing documents.
For families confronting progressive, life-limiting illnesses, time is not an abstract concept as every month can mean the loss of function, cognition or life itself. This can be difficult to fully appreciate without direct experience treating patients with the disease under review. When adcomms debate risk associated with approving a treatment on an accelerated timeline, patients and families bring a perspective that no dataset can provide—an understanding of the risk of waiting for treatment.
This is particularly important because risk tolerance is different in rare diseases, especially for the approximately 15 million American children living with rare conditions, 30% of whom will not even live to age five.
Families facing terminal or debilitating diseases make decisions differently than regulators reviewing from afar. They may reasonably accept uncertainty in exchange for the unproven possibility of improving health and quality of life.
Standard adcomm procedure should include a seat at the table for rare disease advocates and acknowledgement that in rare diseases, large randomized trials are often impossible. Placebo-controlled studies may require families to watch a child deteriorate while receiving no therapeutic benefit. For terminal diseases with short life expectancies, such designs raise difficult ethical questions.
The goal should be to evaluate evidence using approaches that reflect the realities of rare disease populations rather than force those populations into frameworks designed for entirely different circumstances. The FDA’s role is as an important gatekeeper to review clinical and scientific data, determine whether there is a meaningful chance that efficacy outweighs risk and make those facts available to the public.
But government is neither physician nor patient. Once a treatment is approved, a patient’s personal physician will carefully evaluate whether to prescribe a treatment, and the patient or caregiver will decide whether to accept it. These safeguards ensure treatment decisions remain individualized and informed.
Reforms should not weaken scientific standards but strengthen the quality of decision-making by ensuring that the right experts are in the room—including patients themselves—and that the realities of rare disease are fully understood.
America has long been the world’s leader in medical innovation. We can continue that tradition by modernizing how FDA adcomms evaluate therapies for rare diseases while ensuring patients are partners in the process.
Policymakers and regulators should be encouraged to embrace this common-sense approach that empowers patients and physicians to make informed treatment decisions without dedicated and well-meaning government officials unnecessarily limiting those choices.
For millions of Americans living with rare diseases, these decisions are not academic exercises. We must work diligently to get them right.
As physician and entrepreneur Peter Diamandis recently noted on X, “The most unethical thing in medicine is the patient who died waiting for a treatment that existed but wasn’t approved yet.”
As a fellow physician, I approve this message.
