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Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation

Author(s): Isabelle Sermet-Gaudelus

Journal: European Respiratory Review
ISSN 0905-9180

Volume: 22;
Issue: 127;
Start page: 66;
Date: 2013;
Original page

Keywords: CFTR mutations | CFTR potentiator | cystic fibrosis | G551D | ivacaftor | personalised medicine

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.

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