A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation

• Published in: The New England journal of medicine Vol. 365; no. 18; pp. 1663 - 1672
• Main Authors: Ramsey, Bonnie W, Davies, Jane, McElvaney, N. Gerard, Tullis, Elizabeth, Bell, Scott C, Dřevínek, Pavel, Griese, Matthias, McKone, Edward F, Wainwright, Claire E, Konstan, Michael W, Moss, Richard, Ratjen, Felix, Sermet-Gaudelus, Isabelle, Rowe, Steven M, Dong, Qunming, Rodriguez, Sally, Yen, Karl, Ordoñez, Claudia, Elborn, J. Stuart
• Format: Journal Article
• Language: English
• Published: Waltham, MA Massachusetts Medical Society 03.11.2011
• Subjects: Administration, Oral; Adolescent; Adult; Aminophenols - adverse effects; Aminophenols - pharmacology; Aminophenols - therapeutic use; Biological and medical sciences; Child; Chlorides; Conductance; Cystic fibrosis; Cystic Fibrosis - drug therapy; Cystic Fibrosis - genetics; Cystic Fibrosis - physiopathology; Cystic Fibrosis Transmembrane Conductance Regulator - genetics; Cystic Fibrosis Transmembrane Conductance Regulator - metabolism; Drug Synergism; Errors of metabolism; Female; Forced Expiratory Volume - drug effects; General aspects; Humans; Lungs; Male; Medical sciences; Metabolic diseases; Middle Aged; Miscellaneous hereditary metabolic disorders; Mutation; Patients; Proteins; Quality of life; Quinolones - adverse effects; Quinolones - pharmacology; Quinolones - therapeutic use; Regulatory approval; Respiratory function; Sweat; Therapeutic applications; Young Adult; Human; Medicine; Respiratory disease; Metabolic diseases; Digestive diseases; Genetics; Patient; Cystic fibrosis; Mutation; Cystic fibrosis transmembrane conductance regulator; Genetic disease; Pancreatic disease
• ISSN: 0028-4793; 1533-4406; 1533-4406
• DOI: 10.1056/NEJMoa1105185

Ivacaftor, a potentiator of CFTR, was studied in patients with cystic fibrosis (CF) who had mutations that reduced the function of the CFTR protein. Ivacaftor significantly improved FEV 1 and reduced pulmonary exacerbations; it holds promise in the treatment of selected patients with CF. Cystic fibrosis, the most common lethal genetic disease in whites, affects approximately 70,000 people worldwide. 1 – 3 There is no cure for this disease, and the progressive lung disease associated with it is the leading cause of death. Current treatments for cystic fibrosis target the secondary effects of dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The CFTR protein is an epithelial ion channel contributing to the regulation of absorption and secretion of salt and water in various tissues, including the lung, sweat glands, pancreas, and gastrointestinal tract. 4 , 5 Cystic fibrosis is caused by mutations in CFTR that affect . . .