Abstract
Cystic fibrosis (CF) is the most common life-shortening genetic disease. It affects approximately 85,000 people worldwide.
The disease is caused by bi-allelic mutations in the gene encoding the CFTR (cystic fibrosis conductance regulator) protein, which plays a major role in ion transport across the apical membrane of the epithelial cells. Until recently, treatment of this disease was solely symptomatic.
Causal therapy targeting molecular defect of CFTR protein has been available since 2012, when first therapeutic agent was registered. These therapeutic agents (CFTR modulators) repair synthesis and function of the CFTR protein.
Currently, there are four CFTR modulators available and all together they can work in up to 90% of all patients with CF. Determining parameter of the respective treatment is the genotype of the patient.