Rare disease drug development has a design problem. In this episode of The Emerging Biotech Leader, hosts Kim Kushner and Ramin Farhood speak with Marshall Summar, CEO and founder of Uncommon Cures, who has run more than 200 rare disease trials across academic medicine and industry. His core argument: sponsors are still defaulting to trial models built for large, homogeneous populations, in diseases where the entire patient pool may number fewer than 150 people. 

"You need to pick a design that's appropriate for the size of the population you have and the outcomes you're looking at."  - Marshall Summar 

The double-blind placebo-controlled trial has its place. That place is not a disease with 80 patients in the world. 

Better-fit designs exist: patient-as-own-control models, adaptive phases that allow course corrections before they become costly, natural history studies funded through patient organizations before a trial opens. Reducing patient burden, home drug delivery, remote consent, home nursing visits, is a data integrity decision as much as a patient experience one. Pediatric inclusion from the start produces stronger evidence and a cleaner access story than studying adults and moving to off-label pediatric use later. 

Study design, patient engagement, access, and reimbursement are not a relay race. Know your patient population before you design the study, and the rest tends to follow. 

If rare disease trial design is a live issue in your programme, we work with teams to make these calls early, with fewer trade-offs. Let’s talk. [email protected]