RISE to the Challenge: Statistical Considerations for Rare Disease Clinical Investigations

This public workshop, co-convened by Duke Margolis and the FDA Rare Disease Innovation Hub, will explore statistical considerations in the design, conduct, and analysis of clinical investigations for rare disease medical products. The small patient populations inherent to rare disease present unique challenges that increase the risk of obtaining inconclusive trial results. Addressing these challenges requires careful attention to statistical rigor while utilizing tailored approaches that are necessary to make medical product development feasible in this space. Reliable and timely evidence that relies on data from all available information is critically important to patients and families affected by rare diseases, making the optimization of clinical investigation design, conduct, and analysis a matter of both scientific and ethical urgency.

The workshop will focus on key statistical considerations for tailored approaches employed across the full arc of rare disease development programs. Topics will include the role of randomization and blinding, strategies for enhancing efficiency, and endpoint selection. Discussions will explore the interplay between statistical considerations and regulatory pathways, with the goal of identifying efficient approaches that maintain scientific rigor for rare disease product development.

Statistical considerations affect every aspect of drug development, testing, and review, including clinical trial design and measuring product effectiveness; understanding the role of statistical review is important for sponsors, patients, and disease advocates alike.  All members of the rare disease community, regardless of prior familiarity with statistical approaches, are encouraged to attend.

This project 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 $5,192,495 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.