Rare Disease Endpoint Advancement Pilot Program Workshop: Novel Endpoints for Rare Disease Drug Development


FDA Convening

Rare Disease Endpoint Advancement Pilot Program Workshop: Novel Endpoints for Rare Disease Drug Development

Event Graphics Including Name Time and Date of Event



Event Background and Objectives 

Although the Orphan Drug Act defines a rare disease as a disease or condition that affects less than 200,000 people in the United States, collectively these conditions impact an estimated 30 million people in the United States. Significant unmet treatment needs remain for many of those living with one of the 7,000-10,000 known rare diseases. Advancing the development of treatments for these individuals is critical, as many rare diseases are progressive, considered serious or life-threatening, and nearly half affect children. However, traditional clinical trials are challenging to conduct for therapies targeting small populations. Additionally, many rare disease communities have significant heterogeneity of disease presentation or poorly characterized natural history, further complicating clinical trials for products in the rare disease space. Well-developed efficacy endpoints, especially those that could apply to other rare diseases with similar manifestations, can help drive the general advancement of rare disease drug development.

In order to facilitate rare disease drug development, and as part of a performance goal and requirement related to the FDA User Fee Reauthorization Act of 2022 and the Food and Drug Omnibus Reform Act of 2022 (FDORA), respectively, the U.S. Food and Drug Administration (FDA) has established a pilot program for supporting the development of efficacy endpoints for rare disease treatments. The new Rare Disease Endpoint Advancement (RDEA) Pilot Program offers additional engagement opportunities with the FDA to sponsors of rare disease development programs that meet specific criteria. The PDUFA [Prescription Drug User Fee Act] Reauthorization Performance Goals and Procedures Fiscal Years 2023-2027, known as the PDUFA VII Commitment Letter, contains detailed requirements for participating in the program and outlines the FDA’s commitment to conduct up to three public workshops by the end of fiscal year 2027 to discuss topics relevant to endpoint development for rare diseases. In addition, FDORA requires the conduct of up to three public workshops to discuss topics relevant to the development of endpoints for rare diseases by September 30, 2026. This public workshop is intended to meet a performance goal under PDUFA VII and a requirement under FDORA.

The Duke-Margolis Center for Health Policy, under a cooperative agreement with the FDA, is convening this two-day event that will illustrate challenges and opportunities in rare disease endpoint development, introduce attendees to the RDEA Pilot Program, and highlight how the RDEA Pilot Program is structured to support sponsors who may encounter challenges with endpoint development. Attendees will hear from a variety of speakers about rare disease endpoint examples to gain a better understanding of endpoint development challenges and opportunities. Workshop programming will also facilitate a shared understanding of the RDEA Pilot Program’s purpose and structure, including key features of the program such as sponsor disclosure requirements. Learnings from other FDA pilot programs that share programmatic features with the new RDEA Pilot Program will also be discussed. This event is intended to serve as a resource for sponsors and other attendees interested in learning how they might engage with the FDA through this new program.

Stakeholders may submit written comments regarding this event to regulations.gov until July 23, 2023. For further information on submitting comments for the workshop, please visit Rare Disease Endpoint Advancement Pilot Program Workshop: Novel Endpoints for Rare Disease Drug Development; Public Workshop; Request for Comments.

Comments in the docket will be reviewed after the docket closes.



Funding Acknowledgement

This workshop is supported by the Food and Drug Administration (FDA) of the U.S. Department of Health and Human Services (HHS) as part of a financial assistance award [U19FD006602] totaling $4,241,714 with 100 percent funded by FDA/HHS. The contents are those of the author(s) and do not necessarily represent the official views of, nor an endorsement, by FDA/HHS, or the U.S. Government.




Duke-Margolis Project Team

Dure Kim Headshot

Dure Kim, PharmD

Assistant Research Director