%0 Journal Article
%T Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation
%A Isabelle Sermet-Gaudelus
%J European Respiratory Review
%D 2013
%I European Respiratory Society
%X Cystic fibrosis (CF) is an autosomal recessive lethal disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that encodes for CFTR, an epithelial cell-surface expressed protein responsible for the transport of chloride (Cl-). Gating mutations associated with defective conductance can be modulated by CFTR potentiators. Ivacaftor is a CFTR potentiator approved for the treatment of CF patients >6 yrs of age with at least one copy of the G551D-CFTR mutation. Herein, the clinical trial development programme for ivacaftor will be reviewed, including two pivotal studies in adolescents/adults and in children. These studies report sustained improvements in lung function and sweat chloride concentrations, and a reduction in pulmonary exacerbations over a 48-week treatment period. In the era of personalised medicine, ivacaftor offers an effective and well-tolerated treatment for the clinical management of CF patients with the G551D mutation. A long-term, open-label study will report the effects of ivacaftor over a further 48 weeks.
%K CFTR mutations
%K CFTR potentiator
%K cystic fibrosis
%K G551D
%K ivacaftor
%K personalised medicine
%U http://err.ersjournals.com/content/22/127/66.full.pdf+html