Cystic Fibrosis (CF) is a progressive genetic disease that causes respiratory infections and disabilities. It is caused by mutations in the gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, leading to the dysfunctionality of this protein. It affects mostly the lungs, generating chronic infection, inflammation, respiratory failure and other complications.
Over 2000 variants in the CFTR gene have been identified, and over 300 are known to cause disease. A small number of well-studied variants are responsible for illness in most CF patients.
The past decade has seen a dramatic change in CF care. However, approved CFTR modulators do not support all patients with CF or offer a cure for the disease. While ~80% of patients are supported by an approved treatment, 20% are left with an unmet need. New strategies of medication development are essential to address non-responsive mutations.