Resumen de Chapter Twenty - Disease-Modifying Agents for the Treatment of Cystic Fibrosis

Bradley D. Tait, John P. Miller

• Abstract Cystic fibrosis is a genetic disease caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene that affect transcription, folding, trafficking, degradation, or channel opening of the protein. The lack of CFTR chloride and bicarbonate conductance results in thick mucus accumulation in the pancreas, intestines, and lungs. Treatment of CF symptoms has improved lifespan and quality of life for patients. A key unmet need is drugs targeting the underlying cause of the disease, the defective CFTR protein. The approval of ivacaftor for Class III CFTR-gating mutations demonstrates the potential to address the underlying cause of CF with small molecules. This JOURter discusses recent CFTR correctors and potentiators that target defects associated with several different classes of CFTR mutations.