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. Caitlin Nichols and Kristina Cotter at AllStripes Research examine patient engagement and real-world data drive innovation in orphan disease drug development.
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Patient Engagement and Real-World Data Drive Innovation in Orphan Disease Drug Development
With 350 million people worldwide affected by a rare disease, the collective impact of rare diseases on individuals and society is immense. Innovative technologies including gene therapy and gene editing are bringing effective treatments within reach for many conditions. In 2020, there was a 41% increase in orphan drug designation requests to the FDA from 2019, and 58% of approved drugs were orphan-designated products. While sponsors face many challenges in the orphan drug space, there has never been a better time to partner with the rare disease community to develop novel therapeutics. In particular, real-world data (RWD) is a powerful tool to assist drug developers in bringing better treatments to rare disease patients and families.
Challenges in Orphan Drug Development
Small, dispersed patient populations and a lack of adequate data often go hand-in-hand in orphan drug development. Small patient numbers can make recruiting for site-based natural history studies and clinical trials challenging, limiting the amount of information gathered about disease progression. Even when site-based studies do move forward, the time and travel involved may be prohibitive for some patients, potentially skewing study populations toward participants who have the time and resources necessary to seek care at tertiary care centres and away from those who primarily receive care in the community setting. For example, we analysed health-care facilities visited by 151 participants in our RWD platform with a self-reported diagnosis of one of nine lysosomal storage disorders (LSDs). Fifty-eight percent of these participants did not receive care from a health-care facility we scored as a top-tier centre for LSD care (unpublished results, AllStripes Research). For many of these patients and their families, participating in a site-based study may not be feasible.
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