Rare disease leaders from the FDA’s drug and biologics centers and an interdisciplinary hub met for a candid “Town Hall” event at the Drug Information Association’s Global Annual Meeting on June 17. Here, AgencyIQ provides our takeaways, from cultural shifts to tactical advice.
Rare diseases were a focal point at the Drug Information Association global annual conference
- The DIA global annual conference featured four days of discussions about key regulatory issues. Held June 14-18 in Philadelphia, the event included both high-level remarks from agency leadership and in-depth sessions on more granular regulatory issues.
- On June 17, a “Rare Disease Town Hall” offered a candid conversation on the challenges and future directions, featuring AMY COMSTOCK RICK, head of the agency’s Rare Disease Innovation Hub, and two top regulators, VIJAY KUMAR, acting director of the Center for Biologics Evaluation and Research’s Office of Therapeutic Products, and JANET MAYNARD, director of the Center for Drug Evaluation and Research’s Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine. The conversation was moderated by Hyman Phelps & McNamara attorney JAMES VALENTINE.
- The backdrop for this discussion: In 2025 and early 2026, scrutiny – and criticism – of the FDA’s approach to supporting rare disease development reached a fever pitch following a series of events, including Complete Response Letters issued to Capricor Therapeutics, Biohaven, Pierre Fabre Pharmaceuticals and Regenxbio. Rare disease advocates and lawmakers reacted to the actions during a tense Senate hearing on Feb. 26, where speakers described as a pattern of shifting standards in the FDA’s review of rare disease drugs – pushback that highlighted clashes with the agency’s touting of new flexibilities brought in by the new presidential administration. [Read AgencyIQ’s full recap of the event here.].
- On June 3, 2026, the FDA convened an invitation-only roundtable between the FDA’s acting leadership and rare disease leaders. According to a June 18 FDA press release, the discussion had three major areas of focus: incorporation of the patient voice, tailored regulatory approaches and inter-center consistency.
What we heard at DIA regarding rare disease regulation
- The FDA’s external relationships: Rick shared some new insights from the June 3 roundtable event, saying that this was the first such meeting attended by Acting FDA Commissioner KYLE DIAMANTAS, highlighting the meeting’s importance. According to Rick, “The acting commissioner acknowledged that the interaction with the rare disease community had fallen off the track it had been on.” She explained that the meeting did not feature policy announcements, but the general tenor between the agency and around 50 participating organizations was positive, with an agreement to “start fresh.”
- Rebranding “regulatory flexibility”: Rick described another throughline from the roundtable—misconceptions associated with the often-used term “regulatory flexibility.” She said that the terminology could create the perception that the FDA is adopting a lower bar or standard for evidence. Appropriate alternatives could be “adaptable” or “context-specific” regulation.
- Unique development programs: “The drug development program may need to be as unique as the disease is,” Rick said. CBER’s Kumar added that rare disease development often faces issues beyond a small sample size, such as incomplete natural history characterization and heterogeneous disease genotypes and phenotypes. From the CDER perspective, Maynard added that reviewers are open to several alternative trial designs. For example, she said crossover designs have been efficient in situations “where you have disease that’s fairly stable, and you can see treatment effects fairly rapidly when patients are on- or off-drug.” She said that CDER has a group devoted to addressing these considerations, called the Rare Disease Drug Development Design program, or RD4.
- CMC-driven delays: Kumar described misalignment between chemistry, manufacturing and controls issues and clinical development as contributors to “potentially avoidable delays” in rare disease drug development. Referring to sponsors, he said, “They come in for a late phase meeting, and we suddenly realize that the assay validation has not progressed at all.” This is a major priority of Kumar, who spoke at length about the disconnect during a Friends of Cancer Research workshop last month. [Read in-depth AgencyIQ analysis here.] In his closing remarks, he described earlier engagement in CMC issues as an area where he wants to see progress in the next year.
- The role of advisory committees: Valentine reflected on the agency’s advisory committee system’s quiet year. “Expertise in rare disease is hard to find already,” he said. “Advisory committees maybe reflected one of those few opportunities for the agency to benefit from that external input – both scientific, medical experts, but also that opportunity to hear from the affected community.” Rick explained that there are ongoing conversations about optimizing the utility of advisory committee meetings, but she has not seen indications that they are off the table. Kumar said advisory committees should be looked at “as a continuum” of the agency’s tools to receive stakeholder input, which also include patient-focused drug development efforts.
- The agency’s ask for sponsors: Maynard issued a plea for rare disease sponsors to provide more clarity to the agency regarding a development program’s unique challenges. She said, “I think sometimes there may be apprehension that if you talk about what’s hard or what’s limited in your program, that FDA will have concerns or will be as supportive of the program, but to me it’s actually extremely helpful to know what are the specific issues, where are the limitations in the data, and how can we work with that.”
Featuring previous research by Ned Pagliarulo.