Erika Fullwood Augustine, MD, MS, on Optimizing End Points for Rare Disease Clinical Trials


The associate chief science officer of the Kennedy Krieger Institute discussed an aspect of clinical trial design highly relevant to gene therapy development for rare diseases.

“Over the years, it does take time to build that foundation of approvable end points and of robust outcome measures. Finding and honing in on what's meaningful really takes partnership with patient communities.”

Many rare genetic diseases are the result of a mutation in a single gene, or another well-understood genetic cause, and as such could be excellent candidates for treatment with a targeted gene therapy product or other form of genomic medicine. Although, conducting clinical trials for such candidate products is easier said than done. Trials for rare disease indications draw from an inherently limited pool of patients for enrollment, and thus tend to have to work with a small sample size. Furthermore, some patients with the same or similar genetic diseases can have substantially different symptoms and manifestations of different aspects of their disease at baseline. As such, comparing outcomes between different individual participants in a trial with one another, as well as with natural history study data, can be a complicated and difficult task. A critical element of addressing this challenge is selecting the ideal end points for new clinical trials. Erika Fullwood Augustine, MD, MS, the associate chief science officer of the Kennedy Krieger Institute, spoke about this topic in a session at the American Society of Gene & Cell Therapy (ASGCT) 27th Annual Meeting, held May 7 to 10, 2024, in Baltimore, MD.

Shortly after the close of the conference, CGTLive® spoke with Augustine about the background behind her talk and the key points she presented. Augustine emphasized that end points for rare disease clinical trials have to simultaneously work well for small samples, be meaningful for patients and their families, and be scientifically robust in an analytical approach. She concluded by expressing optimism for the future of the field based on the many new approaches to treatment presented at ASGCT’s Annual Meeting this year.

Click here to view more coverage of the 2024 ASGCT Annual Meeting.

1. Clinical trial endpoints - approaches to optimize natural history studies and engage patient advocacy groups. Presented at: ASGCT Annual Meeting 2024, May 7-10; Baltimore, Maryland.

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