Cystic Fibrosis Treatment Landscape: Progress, Challenges, and Future Directions.

Abstract

Cystic fibrosis (CF) is a monogenic autosomal recessive disorder that primarily affects the respiratory and gastrointestinal systems. It results from variants in the CFTR gene, leading to dysfunctional chloride channels, thickened mucus secretion, and subsequent multisystem complications. Significant advances have been made in CF treatment, particularly with the development of CFTR modulators, which are unique to genotypes and have improved clinical outcomes in many people with CF. However, the benefits of these therapies are not universal, with a considerable portion of the CF population-especially those with rare mutations-still without access to effective treatment options. This review provides a comprehensive overview of the pathophysiology and genetic basis of CF, explores current and emerging treatments, and discusses the ongoing challenges in the field.