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By: Patrizia Cavazzoni, MD, Director, Center for Drug Evaluation and Research and Peter Marks, MD, PhD, Director, Center for Biologics Evaluation and Research

An estimated 10,000+ rare diseases affect more than 30 million people – approximately one out of every 10 people – in the U.S., and about half of these people are children. Many rare conditions are life threatening, and most do not have approved treatments. Fundamental to the mission of the U.S. Food and Drug Administration is to engage patients and caregivers – to understand their unique perspectives and experiences and keep these front of mind as we review medical products for rare disease patients. 

The Rare Disease Innovation Hub

Recent rapid advances in the identification of promising drug targets and development of gene therapies offer momentum and potential to meet the needs of patients with rare diseases. In 2023, over half of all the novel drugs and biologics approved by the FDA’s Center for Drug Evaluation and Research (CDER) and the FDA’s Center for Biologics Evaluation and Research (CBER) were to prevent, diagnose or treat a rare disease or condition.

While there have been important advances in treatments for rare diseases, more needs to be done. Many rare diseases lack treatment options and therefore many patients have high unmet medical needs. This requires new approaches to expedite development and approval of safe and effective drugs and biologics. We see huge potential in establishing a new model, within the FDA, to leverage cross-agency expertise and greatly enhance our intercenter connectivity to spur the development of treatments for rare diseases.

To that end, we plan to establish a Rare Disease Innovation Hub (the Hub). The Hub will work across rare diseases but will especially focus on products intended for smaller populations or for diseases where the natural history is variable and not fully understood, as we recognize that development of therapies for these conditions can be particularly challenging. The Hub would have three primary functions:

• Serve as a single point of connection and engagement with the rare disease community, including patient and caregiver groups, trade organizations, and scientific/academic organizations, for matters that intersect CDER and CBER. The Hub will help the larger rare disease community navigate important intersections across the FDA that affect patients with rare diseases, such as medical devices, including diagnostic tests, and combination products. 
• Enhance intercenter collaboration to address common scientific, clinical and policy issues related to rare disease product development, including relevant cross-disciplinary approaches related to product review, and promote consistency across offices and Centers. 
• Advance regulatory science with dedicated workstreams for consideration of novel endpoints, biomarker development and assays, innovative trial design, real world evidence, and statistical methods.

The Hub will be co-led by the two of us, the Directors of CDER and CBER, in close collaboration with our colleagues in the FDA’s Center for Devices and Radiological Health, Oncology Center of Excellence, Office of Orphan Products Development, and Office of Combination Products. As Hub leaders, we will disseminate our shared vision and develop a comprehensive cross-center strategic agenda to align efforts, identify and enable innovative approaches, and streamline communication to better serve the rare disease community. 

The Hub will leverage the activities of the CDER Accelerating Rare disease Cures (ARC) program and CBER Rare Disease Program and will enhance existing cross-center collaborations. In addition, a newly created senior leadership position, Director of Strategic Coalitions for the Hub (Associate Director for Rare Disease Strategy), will act as a single point of connection and engagement with outside parties on behalf of the Hub on cross-cutting rare disease-related issues. The Director will develop approaches to ensure appropriate FDA staff involvement or appropriate settings for further external engagement and will seek input from the community to inform the priorities of the Hub. 

This collaborative Hub model will advance a shared vision to facilitate rare disease product development. It will leverage the skills of staff within their respective Centers, while staff will retain their existing decision-making authorities within their current organizations. This model will allow our reviewers to benefit from the deep expertise that resides within the many therapeutically aligned review divisions touched by rare disease indications. At the same time, the Hub will bring together scientific, clinical and policy leaders from CDER and CBER under a shared vision to address common challenges in rare disease drug development. 

The Hub will lead to even more collaboration among the FDA’s existing programs in the rare disease space, including the CDER Accelerating Rare disease Cures (ARC) Program and CBER Rare Disease Program. It will also provide a forum to understand and leverage what we learn from pilot programs currently being implemented across the agency, including the Rare Disease Endpoint Advancement (RDEA) Pilot Program and the Support for clinical Trials Advancing Rare disease Therapeutics (START) Pilot Program.

Our Vision for Patients

Our vision and goal for the Hub is ultimately to improve outcomes for patients. We are optimistic about the promise of new therapeutic options and emerging science and the positive impacts for patients with rare diseases. 

In this regard, we anticipate holding an open public meeting this fall, which will include the establishment of a public docket, to provide further information about our vision for the Hub and receive feedback from the community to help shape the Hub’s priorities and initiatives.

We look forward to expanding our shared work and our future collaborations with all interested parties, including patients, patient advocates, product developers and researchers, to help speed the development, review, and approval of safe and effective drugs and biologics for rare diseases.  

To Find Out More Information about FDA’s Rare Disease Programs:

Director of Strategic Coalitions for the Hub (Associate Director for Rare Disease Strategy)

Rare Diseases at FDA For Patients
CBER Rare Disease Program
CDER’s Rare Diseases Team
Accelerating Rare disease Cures (ARC) Program
FDA Voices: FDA Helps to Deliver Meaningful Advances for Rare Disease Patients
FDA Launches Pilot Program to Help Further Accelerate Development of Rare Disease Therapies