Cystic Fibrosis | Niche and Rare Pharmacor | G7 | 2015
Cystic fibrosis (CF) is a genetic disease affecting chloride transport in a variety of tissues, most notably the lungs and pancreas, and is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is inherited in an autosomal recessive manner, and more than 2,000 different mutations in the CFTR gene have been identified. CF patients generally suffer from pancreatic damage, which affects metabolism and nutrient absorption and is associated with failure to thrive in infants. Chronic respiratory problems, such as persistent lung infection stemming from 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 physical therapy to dislodge mucus build-up, inhaled antibiotics, and pancreatic replacement therapy. However, in 2012, Vertex’s Kalydeco, a small-molecule CFTR potentiator, reached the market. Vertex’s combination of Kalydeco and the CFTR corrector lumacaftor reached the market in 2015, significantly expanding the pool of patients eligible for treatment. Interviewed experts are very excited about Kalydeco, Orkambi, and emerging agents that address the underlying cause of CF.
