Modulators of CFTR. Updates on clinical development and future directions

Cystic fibrosis (CF) is the most frequent life-limiting autosomal recessive disorder in the Caucasian population. It is due to mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Current symptomatic CF therapies, which treat the downstream consequences of CFTR mutations, have increased survival. Better knowledge of the CFTR protein has enabled pharmacologic therapy aiming to restore mutated CFTR expression and function. These CFTR modulators have revolutionised the CF therapeutic landscape, with the potential to transform prognosis for a considerable number of patients. This review provides a brief summary of their mechanism of action and presents a thorough review of the results obtained from clinical trials of CFTR modulators. (C) 2021 Elsevier Masson SAS. All rights reserved.

Automated summary

Cystic fibrosis is the most frequent life-limiting autosomal recessive disorder in the Caucasian population caused by mutations in the CFTR gene. Current therapies focus on treating the downstream consequences of CFTR mutations, but pharmacologic therapy aims to restore mutated CFTR function and has the potential to transform patient prognosis.