Pharmacological Management of Cystic Fibrosis

Abstract

Cystic Fibrosis is a complex, multi-system, genetic disease caused by an autosomal recessive mutation of the CFTR gene, leading to defective chloride and bicarbonate transport across the plasma membrane of epithelial cells. Traditional therapy strategies over the years focused mainly on symptomatic management and prevention of secondary complications without correcting the underlying molecular defect. The emergence of CFTR modulators over the past decades has significantly transformed the pharmacological management of cystic fibrosis by introducing mutation-directed therapeutic strategies, dramatically modifying the trajectory of disease progression. Combination therapies, particularly Elexacaftor/Tezacaftor/Ivacaftor (ETI) triple therapy, have demonstrated substantial clinical benefits, including improved lung function, reduced pulmonary exacerbations, and enhanced quality of life. Despite those advancements, important limitations related to genotype-dependent efficacy, financial barriers, and limited accessibility persist. Ongoing research focuses on gene-based therapeutic strategies that may provide broader and more durable treatments in the future.