FDA Voices
Lessons Learned from our Roundtable with Rare Disease Advocates
By: Karim Mikhail, Acting Director, Center for Biologics Evaluation and Research, Mike Davis, Acting Director, Center for Drug Evaluation and Research, & Amy Comstock Rick, Director, Rare Disease Innovation Hub
There is no substitute for sitting across the table from the people we serve. Recently we had the privilege of joining Acting Commissioner Kyle Diamantas, Acting Chief of Staff Lowell Zeta, and Deputy Commissioner Grace Graham for a roundtable discussion with 15 dedicated rare disease leaders. Hearing directly from patients and family members who navigate these incredibly challenging conditions every day was both grounding and motivating. The conversation reinforced our shared mission and highlighted several key areas where the U.S. Food and Drug Administration must continue to evolve to meet the unique needs of the rare disease community.
During the discussion, we emphasized the FDA’s renewed unwavering commitment to the rare disease community. We made it clear that our medical product decisions must always be rooted in rigorous science and driven by the deep expertise of the FDA’s outstanding scientists and reviewers. While leadership sets the strategic vision, the real engine of this work is our incredibly hard-working career scientists across our medical product centers. Their dedication to evaluating complex data under intense timelines is what transforms scientific possibility into real-world hope for patients.
One of the most important takeaways from the roundtable was how crucial the patient perspective is in the rare disease space. Rare diseases are unlike many widespread chronic conditions where, even when there is disease heterogeneity, the number of patients and the long-term nature of the conditions generally allow for fewer unknowns about the condition. With rare diseases, the number of patients is typically small and the debilitation is rapid, often making the use of traditional drug development tools and large-scale clinical trials infeasible or even impossible to execute. This reality demands that we think differently about rare diseases.
As regulators, we recognize the need to improve how we talk about our regulatory approach to drugs that treat rare diseases — words matter. Historically, terms like regulatory flexibility have sometimes been understood as a willingness to lower our standards. Let us be clear that we are not lowering the bar. Instead, what we need to champion, and what we discussed at length with the advocates, is a tailored regulatory approach to drugs that treat rare diseases. This means utilizing innovative trial designs, real-world evidence, and biomarkers to support a regulatory approach that addresses the unique nature of these diseases while maintaining standards of safety and efficacy.
Finally, the roundtable underscored the critical importance of consistency. While our centers review different types of medical products, rare disease patients deserve consistency whether the product is a new drug, a biological product, or a gene therapy. We are actively working to ensure a unified and transparent approach across our medical product centers and to maintain consistency, whenever appropriate, given the specific product and the condition treated. The Rare Disease Innovation Hub will continue to be a crucial anchor for this cross-center collaboration.
Ultimately, a single meeting cannot solve every challenge. We are committed to a continued, transparent dialogue with the rare disease community, which is essential for establishing trust and keeping pace with the rapidly evolving and complex nature of the rare disease space. We are grateful to the advocates who shared their time and perspectives with us, and we look forward to continuing this vital work together.