JCS Article: Patient Engagement and Real-World Data Drive Innovation in Orphan Disease Drug Development | AllStripes

An estimated one in 10 people are affected by a rare disease, and the cumulative economic burden of rare diseases surpasses that of common conditions like cancer or diabetes. Yet of the 7,000 known rare diseases, approximately 95% lack effective treatments. Rare disease research is complicated by small and dispersed patient populations and often limited understanding of disease pathogenesis and progression. These realities create a range of challenges for drug development, including patient identification, endpoint selection, and trial design. However, the orphan disease landscape also offers compelling opportunities to explore innovative patient partnerships and uses of real-world data (RWD) to accelerate medical breakthroughs for individuals with rare disease. In this article that was featured in the December 2021 issue of the Journal for Clinical Studies (JCS), we explore how patient engagement strategies and real-world data are driving innovation in orphan disease drug development.