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Cystic fibrosis (CF) is an inherited condition that affects approximately 30 000 individuals in the United States.1 Rare genetic diseases such as CF are increasingly seen as unique niche markets for pharmaceutical companies. An unsustainable price structure for novel drugs developed by pharmaceutical companies for this rare condition and others is developing. In January 2012, the US Food and Drug Administration approved Vertex Pharmaceuticals’ drug ivacaftor (Kalydeco) for use in a subpopulation of patients with CF who carry a specific genetic mutation, G551D. Ivacaftor is the first drug that treats the underlying molecular defect in CF, and its introduction illustrates an application of personalized medicine. The development program that led to the discovery of this drug was firmly grounded and incrementally built on the many contributions made during at least 3 decades by a highly supportive community built by and around patients and their families affected by this disease. The work of the CF community has been used as an example of how to advance discovery toward a cure for rare conditions in partnership with industry.2
O’Sullivan BP, Orenstein DM, Milla CE. Pricing for Orphan DrugsWill the Market Bear What Society Cannot?. JAMA. 2013;310(13):1343-1344. doi:10.1001/jama.2013.278129