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Orphan Drugs and Rare Diseases

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Principles and Practice of Clinical Trials


There are approximately 8,000 recognized rare diseases affecting close to 30 million people in the United States. Sponsors choosing to engage in research and development of drugs for rare diseases, known as orphan drugs, face challenges and opportunities that are unique to orphan drug development. Small population size, disease heterogeneity, and unknown natural histories, among other factors, must be considered when designing clinical trials for orphan drugs. Additionally, sponsors need to consider the quality and quantity of clinical trial information needed to support the approval of an orphan drug. To further understand these unique challenges, sponsors should partner with patient groups who can provide disease-specific perspectives and experiences, as well as conduct natural history studies, to better inform the design and evaluation of results from clinical trials. Novel technologies are changing the clinical trial landscape which provide sponsors a unique opportunity to employ novel, lifesaving technologies that can truly “cure” rare diseases. Incentives provided by the Orphan Drug Act and other FDA policies, such as market exclusivity, priority review vouchers, and tax credits, recognize the unique status of orphan drugs and serve to stimulate the development of these products.

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Correspondence to Frank J. Sasinowski .

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Valentine, J.E., Sasinowski, F.J. (2022). Orphan Drugs and Rare Diseases. In: Piantadosi, S., Meinert, C.L. (eds) Principles and Practice of Clinical Trials. Springer, Cham.

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