Another Beginning for Cystic Fibrosis Therapy

Treatments for the fundamental defect in cystic fibrosis are beginning to come to fruition. Cystic fibrosis, an autosomal recessive disease of epithelial chloride transport, can be caused by more than 1000 mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). However, these mutations fall into six functional categories,1 which gives hope that therapies specific to particular mutant categories can be developed. The first success, ivacaftor, was approved by the Food and Drug Administration (FDA) in 2012 for treatment of the 4 to 5% of patients who have the Gly551Asp mutation in CFTR and later for . . .