FDA Rare Disease Roundtable – June 3, 2026

The EveryLife Foundation for Rare Diseases was honored to be invited by the FDA to participate in a closed roundtable discussion with FDA leadership on Wednesday, June 3. 

Our Chief Mission Officer,  Annie Kennedy, and Board Member, James Valentine shared some of the challenges and opportunities prioritized by our community during our Community Congress partner engagements, PDUFA Ad hoc working group prioritization, and recent Scientific Workshop discussions.  

Below is a summary of this week’s conversation with the agency. We are grateful to Acting Commissioner, Kyle Diamantas, and Associate Director for Rare Disease Strategy, Amy Rick, for convening this meeting. We are optimistic about what comes next and look forward to working closely with the agency to ensure the voices of our community are heard. 

FDA leadership in attendance also included Chief of Staff, Lowell Zeta; CDER Acting Director, Michael Davis; CBER Acting Director, Karim Mikhai; Deputy Commissioner for Policy, Legislation, and International Affairs, Grace Graham; Director Public Engagement, Dayle Crintinzio; and advisor to FDA Leadership, Jim Traficant. 

Key Highlights from Opening Remarks by Acting Commissioner Kyle Diamantas & FDA Chief of Staff Lowell Zeta

• Mr. Diamantas noted that this was his first public meeting as Acting Commissioner and emphasized his commitment to finding new approaches to rare disease drug development and review.  
• The meeting was described as the beginning of an ongoing dialogue rather than a one-time event, indicating that FDA intends to schedule a broader series of engagements with the rare disease community, including additional patient groups, providers, and other stakeholder groups. 
• It was repeatedly stated that rare disease would be a top priority under this leadership team. 
• A strong sense of optimism and confidence in the leadership team was relayed, as was emphasis that the leadership team is committed to ensuring Agency personnel have the resources, authority, and support necessary to advance rare disease programs. 
• Central to the vision laid out was a science-first approach, relying on the scientific experts who form the backbone of the Agency. 
• The importance of regulatory flexibility was stressed, and Acting Commissioner Diamantas acknowledged that he did not need to explain the challenges inherent in developing therapies for very small patient populations to the rare disease community. 
• Reflecting on his prior legal career, Diamantas remarked that regulations work best when applied to standardized subject matter, and that few areas are less standardized than rare diseases. He reflected that, in his view, successful regulatory flexibility requires tailoring approaches to individual circumstances while simultaneously providing greater consistency and transparency. As an example of these principles in action, he pointed to the recent draft guidance, Leveraging Prior Knowledge in the Development of Human Gene Therapy Products Incorporating Genome Editing, which he described as embodying both consistency and flexibility. 
• Chief of Staff Zeta highlighted a shared belief among FDA leadership that the patient voice should be viewed as evidence rather than anecdote.  
• It was suggested that the existing regulatory framework should be revisited to better incorporate patient experience as evidence and to create opportunities for earlier engagement between patients and FDA review staff. At the same time, it was underscored that flexibility should not be equated with a lowering of scientific or regulatory standards. 
• Mr. Zeta acknowledged the important role of Advisory Committee meetings and announced that the Agency intends to hold more of them going forward. 

Rare Disease Community Leader Perspectives

Rare disease community leaders were asked to provide recommendations about short and long-term focus areas for rare diseases, ideas, and concerns. 

Overall, strong alignment in priorities brought forward by the community was evident in the complementary nature of the themes shared. Examples included: 

• Establishment of a new meeting mechanism for patient advocacy groups (PAGs) to engage with the agency, acknowledging the scientific endeavors being led by PAGs independent of a specific therapeutic or sponsor relationship (“Type P meeting”). 
• Facilitation of innovative collaborations and approaches in ultra-rare diseases with high unmet need: 
  • Was flagged as a priority by several rare disease leaders, through several examples (N of 1 models, communities for which mutation specific product approvals are leaving those with rarer mutations behind, rare cancers)  
• Priorities cited included solving for scalability, the imperative for pathways to approval for N of 1 products to enable commercial access, and efforts to increase investor confidence 
• Enhanced labeling practices to be more reflective of eligible patient populations to support inclusive access. 
• Increased emphasis on pediatric rare disease populations; protecting children “with” clinical trials, not “from” clinical trials. 
• Enhanced transparency, especially with respect to decision-making within clinical trial design and patient experience data. 
• Facilitate a forum to explore the optimization of the use of Patient Experience Data to ensure maximum levels of alignment between the agency and sponsors, enhance the use of PED checklist, increase transparency around which PED information informed decision-making throughout the trial and review. 
• Creation of knowledge management system that leverages the use of artificial intelligence and other tools to enable reviewers across the agency to access information about parallel situations to mitigate for variations and shifts in expertise within and across review divisions and medical product centers. 
• Application of RISE Workshop learnings into reviewer practice: 
  • Multiple participants emphasized the value and importance of the Rare Disease Innovation Hub, and opportunities to serve as a catalyst for the priorities being brought forward if appropriately scaled and resourced. 
• Restoration of confidence in the rare disease regulatory ecosystem. 
• Calibration of the Benefit-Risk Threshold to disease specific populations: 
  • Leaders emphasized that the question isn’t whether there is no uncertainty, the question is whether the remaining uncertainty represents value for the target population. 
• Ensure multi-disciplinary expertise (biostats, medical) in the science of small trials and rare disease in primary review. 
• Resume the use of Advisory Committee Meetings to receive external expertise on product reviews and key policy topics: 
  • While several leaders called for the resumption of product-specific Advisory Committees, opportunities to enhance the AdComm format and mechanism were recognized. 
• Full application of the Accelerated Approval pathway to rare disease therapies, including efficient qualification of surrogate biomarkers. 

CDER, CBER & Rare Disease Innovation Hub Perspectives

During a question-and-answer session moderated by Amy Comstock Rick, Acting CDER Director Mike Davis and Acting CBER Director Karim Mikhail were asked how rare disease patient organizations could engage more substantively with the Centers and support them in their new leadership roles. 

Highlights from those reflections include: 

Acting CDER Director, Michael Davis 

• Emphasized the importance of bringing forward ideas, welcoming thoughtful input from the community.  
• He reflected on both formative experiences earlier in his professional training and FDA career, as well as recent experiences, listening directly to patient perspectives and specialized expertise had a meaningful impact on his understanding of rare disease.  
• He also noted that he is actively seeking ideas from staff within CDER and intends to consider those ideas alongside input from the rare disease community, bringing people together to solve problems collaboratively.  
• He concluded that he would take all good ideas seriously. 
• Dr. Davis noted that Amy Rick, through her leadership of the Rare Disease Innovation Hub, regularly brings forward valuable ideas originating from the community. He also observed that, during his tenure as Deputy Director of CDER, he served as the Center’s primary representative to the Hub and has seen firsthand the value of those interactions.  
• With respect to staffing, he indicated that both he and Mr. Mikhail have been reaching out to former FDA employees about returning to the Agency, with a particular focus on strengthening the organization and fostering collaboration across Centers, including support from CDER to CBER where appropriate. 

Acting CBER Director, Karim Mikhail 

• Focused on the importance of greater alignment across the rare disease community.  
• Encouraged stakeholders to look for common threads and shared priorities. 
• He also expressed a dislike for the term “flexibility,” explaining that he has encouraged his senior leadership team instead to think in terms of “adaptive tools” that create common frameworks for decision-making within FDA.  
• He emphasized the strong moral compass he has observed among FDA staff and their commitment to fairness. Speaking as a father, he remarked that if a product were safe, he knew he would do everything possible to gain access for his own child.  
• He concluded by emphasizing that he is there to support the FDA staff carrying out the Agency’s mission. 
• Mr. Mikhail took the opportunity to recognize the review teams for their dedication and commitment. He suggested that stakeholders could benefit from engaging not only with review divisions but also with Office-level leadership within the Centers. 

Deputy Commissioner for Policy, Legislation, and International Affairs, Grace Graham  

• Emphasized that the rare disease community could play an important role in helping FDA recruit talent by sharing job opportunities with experts in the field.  
• Noted that FDA’s evolving approach to hiring should make it easier for individuals who have left the Agency for industry or academia to return to public service. 

The meeting closed with a thank you to the community leaders gathered from both Amy Rick and Acting Commissioner Diamantas.