The rapid pace of innovation in the biotechnology industry, and new generation of modern, targeted medicine, has created exciting opportunities to bring cutting edge treatments to patients with rare diseases. Despite increased interest and investment in rare disease product development, challenges in the development and regulatory process still threaten the pipeline of lifesaving therapies.

This fall, the EveryLife Foundation for Rare Diseases will convene its 11th annual Rare Disease Scientific Workshop to explore the science of small trials in the age of biological plausibility. Historically, randomized controlled trials were considered the “gold standard” to provide evidence of clinical benefit for specific therapeutic interventions in large populations. The workshop will consider whether there are other approaches better suited to severe diseases with high levels of heterogeneity. In the precision medicine era, we are capable of matching genotypes and specific mutations to the right therapies which should enrich studies for responsive patients. How do we manage these even narrower definitions and smaller patient populations with the challenge of conducting trials?

The goal of the workshop was to gather key thought-leaders from industry, the FDA, and patient organizations to discuss potential models, best practices and the pathway forward for alternative trial designs. The presentation of successful case studies will provide issues for discussion and potential solutions for others seeking to develop rare disease therapies. Following the workshop, a “guide” will be published detailing recent successful approaches to clinical trials for small, heterogenous patient populations.

The Workshop also prioritized finding actionable takeaways to the following questions:

What methodologies would improve approval pathways for small heterogeneous patient populations?
How can novel clinical trial designs effectively manage variation in small study sizes while still retaining the rigor required for pivotal studies?
How can multi-domain responder analyses assess a magnitude of clinical effect across multiple domains that are deemed to be clinically relevant in a small clinical trial?
How can we foster acceptance and use of biomarker-based endpoints as sufficient primary measures to support approval, as well as better utilize the totality of data, to reasonably predict clinical benefit during rare disease drug development?

Senior leadership from FDA was also invited to present their perspectives on trial design. While this event is free and open to the public, space is limited to 125 attendees to yield productive collaboration and discussion.

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