Cystic Fibrosis | Niche & Rare Disease Landscape & Forecast | US/EU5 | 2017
Cystic fibrosis (CF) is a genetic disease caused by any one of the more than 2,000 mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR mutations lead to aberrant chloride transport in a variety of tissues, most notably the lungs and pancreas. As a result, CF patients generally suffer from pancreatic damage, which affects metabolism and nutrient absorption. Chronic respiratory problems, such as persistent lung infection stemming from the accumulation of thick, viscous mucus in the lungs, can result in respiratory failure—the leading cause of death in CF. Historically, therapeutic options for CF were limited to therapies to dislodge mucus buildup, inhaled antibiotics, and pancreatic replacement therapy. With the market entry of Vertex Pharmaceuticals’ Kalydeco, a small-molecule CFTR potentiator, and Orkambi, a combination of Kalydeco and the CFTR corrector lumacaftor, disease-modifying therapy (DMT) has become a reality for a subset of CF patients. Pipeline agents, including next-generation combinations, seek to improve on the performance of marketed DMTs (e.g., Vertex’s ivacaftor/tezacaftor) or further expand the reach of DMT in the CF population (e.g., triple combinations).
