Тargeted therapy for CF patients with F508del/F508del genotype

Abstract

Targeted therapy for cystic fibrosis (CF) is a novel approach to CF treatment that can restore and potentiate CFTR channel activity. Lumacaftor/ivacaftor combination therapy is related to significant clinical and functional benefits in CF patients who are homozygous for F508del CFTR mutation. The authors described a case of effective treatment with lumacaftor/ivacaftor combination in a homozygous F508del CF patient with severe lung disease. This experience demonstrates an urgent need to make this pathogenic treatment available for patients with this genotype in Russia.