O’Sullivan BP, Freedman SD. Cystic fibrosis. Lancet. 2009;373:1891–904.
Article
Google Scholar
Döring G, Ratjen F. Immunology of cystic fibrosis. In: Hodson ME, Geddes D, Bush A, editors. Cystic fibrosis. London, England: Arnold Hammer; 2007. p. 69–80.
Berger HA, Anderson MP, Gregory RJ, Thompson S, Howard PW, Maurer RA, et al. Identification and regulation of the cystic fibrosis trans-membrane conductance regulator-generated chloride channel. J Clin Invest. 1991;88:1422–31.
CAS
Article
Google Scholar
Choi JY, Muallem D, Kiselyov K, Lee MG, Thomas PJ, Muallem S. Aberrant CFTR-dependent HCO3-transport in mutations associated with cystic fibrosis. Nature. 2001;410:94–7.
CAS
Article
Google Scholar
Derichs N. Targeting a genetic defect: cystic fibrosis trans-membrane conductance regulator modulators in cystic fibrosis. Eur Respir Rev. 2013;22:58–65.
Article
Google Scholar
Clinical and Functional Translation of CFTR (CFTR2). https://www.cftr2.org/index.php. Accessed 15 Feb 2018.
Lukacs GL, Mohamed A, Kartner N, Chang XB, Riordan JR, Grinstein S. Conformational maturation of CFTR but not its mutant counterpart (delta F508) occurs in the endoplasmic reticulum and requires ATP. EMBO J. 1994;13:6076–86.
CAS
Article
Google Scholar
Van GF, Straley KS, Cao D, Gonzalez J, Hadida S, Hazlewood A, et al. Rescue of DeltaF508-CFTR trafcking and gating in human cystic fibrosis airway primary cultures by small molecules. Am J Physiol Lung Cell Mol Physiol. 2006;290:L1117–30.
Article
Google Scholar
Dalemans W, Barbry P, Champigny G, Jallat S, Dott K, Dreyer D, et al. Altered chloride ion channel kinetics associated with the delta F508 cystic fibrosis mutation. Nature. 1991;354:526–8.
CAS
Article
Google Scholar
US Food and Drug Administration. FDA Approves New Treatment for Cystic Fibrosis. Silver Spring, MD: US Food and Drug Administration, 2015. Accessed 15 Feb 2018.
ORKAMBI (lumacaftor/ivacaftor). European Public Assessment Report Product Information. Vertex Pharmaceuticals Inc. London, UK, July 2016. Accessed 15 Feb 2018.
Wainwright CE, Elborn JS, Ramsey BW, Marigowda G, Huang X, Cipolli M, et al. Lumacaftor-ivacaftor in patients with cystic fibrosis homozygous for Phe508del CFTR. N Engl J Med. 2015;373:220–31.
CAS
Article
Google Scholar
Boyle MP, Bell SC, Konstan MW, McColley SA, Rowe SM, Rietschel E, et al. A CFTR corrector (lumacaftor) and a CFTR potentiator (ivacaftor) for treatment of patients with cystic fibrosis who have a phe508del CFTR mutation: a phase 2 randomised controlled trial. Lancet Respir Med. 2014;2:527–38.
CAS
Article
Google Scholar
Ratjen F, Hug C, Marigowda G, Tian S, Huang X, Stanojevic S, et al. Efficacy and safety of lumacaftor and ivacaftor in patients aged 6–11 years with cystic fibrosis homozygous for F508del-CFTR: a randomised, placebo-controlled phase 3 trial. Lancet Respir Med. 2017;5:557–67.
CAS
Article
Google Scholar
Donaldson SH, Pilewski JM, Griese M, Cooke J, Viswanathan L, Tullis E, et al. Tezacaftor/ivacaftor in subjects with cystic fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR. Am J Respir Crit Care Med. 2018;197 (2):2, 214–24.
Liberati A, Altman DG, Tetzlaff J, Mulrow C, Gøtzsche PC, Ioannidis JPA, et al. The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration. J Clin Epidemiol. 2009;62(10):e1–34.
Article
Google Scholar
Higgins JP, Green S. Cochrane handbook for systematic reviews of interventions version 5.3.0. Oxford: the Cochrane collaboration, 2014. Updated March 2014. http://www.cochrane-handbook.org. Accessed 15 Feb 2018.
Guyatt GH, Oxman AD, Vist GE, Kunz R, Falck-Ytter Y, Alonso-Coello P, et al. GRADE: an emerging consensus on rating quality of evidence and strength of recommendations. BMJ. 2008;336:924–6.
Article
Google Scholar
Hubert D, Chiron R, Camara B, Grenet D, Prévotat A, Bassinet L, et al. Real-life initiation of lumacaftor/ivacaftor combination in adults with cystic fibrosis homozygous for the Phe508del CFTR mutation and severe lung disease. J Cyst Fibrosis. 2017;16:388–91.
CAS
Article
Google Scholar
Michael WK, Edward FM, Richard BM, Gautham M, Simon T, David W, et al. Assessment of safety and efficacy of long-term treatment with combination lumacaftor and ivacaftor therapy in patients with cystic fibrosis homozygous for the F508del-CFTR mutation (PROGRESS): a phase 3, extension study. Lancet Respir Med. 2017;5:107–18.
Carlos EM, Felix R, Gautham M, Fang L, David W, Margaret R, et al. Lumacaftor/ivacaftor in patients aged 6–11 years with cystic fibrosis and homozygous for F508del-CFTR. Am J Resp Crit Care. 2017;195:7.
Article
Google Scholar
Chilvers M, Tian S, Marigowda G, Bsharat M, Hug C, Solomon M, et al. An open-label extension (EXT) study of lumacaftor/ivacaftor (LUM/IVA) therapy in patients aged 6 to 11 years with cystic fibrosis (CF) homozygous for F508del-CFTR. J Cyst Fibrosis. 2017;16:S77.
Article
Google Scholar
Jennings MT, Dezube R, Paranjape S, West NE, Hong G, Braun A, et al. An observational study of outcomes and tolerances in patients with cystic fibrosis initiated on lumacaftor/ivacaftor. Ann Am Thorac Soc. 2017;14:1662–6.
Article
Google Scholar
Stallings VA, Stark L, Robinson KA, Feranchak AP, Quinton H, Clinical Practice Guidelines on Growth and Nutrition Subcommittee, et al. Evidence-based practice recommendations for nutrition-related management of children and adults with cystic fibrosis and pancreatic insufficiency: results of a systematic review. J Am Diet Assoc. 2008;108:832–9.
Rowe SM, Heltshe SL, Gonska T, Donaldson SH, Borowitz D, Gelfond D, et al. Clinical mechanism of the cystic fibrosis trans-membrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis. Am J Respir Crit Care Med. 2014;190:175–84.
CAS
Article
Google Scholar
Vaisman N, Pencharz PB, Corey M, Canny GJ, Hahn E. Energy expenditure of patients with cystic fibrosis. J Pediatr. 1987;111:496–500.
CAS
Article
Google Scholar
Quittner AL, Buu A, Messer MA, Modi AC, Watrous M. Development and validation of the cystic fibrosis questionnaire in the United States: a health-related quality-of-life measure for cystic fibrosis. Chest. 2005;128:2347–54.
Article
Google Scholar
Quittner AL, Modi AC, Wainwright C, Otto K, Kirihara J, Montgomery AB. Determination of the minimal clinically important difference scores for the Cystic Fibrosis Questionnaire-Revised respiratory symptom scale in two populations of patients with cystic fibrosis and chronic Pseudomonas aeruginosa airway infection. Chest. 2009;135:1610–8.
Article
Google Scholar
Elborn JS, Ramsey BW, Boyle MP, Konstan MW, Huang XH, Marigowda G, et al. Efficacy and safety of lumacaftor/ivacaftor combination therapy in patients with cystic fibrosis homozygous for Phe508del CFTR by pulmonary function subgroup: a pooled analysis. Lancet Respir Med. 2016;4:617–26.
CAS
Article
Google Scholar
Marigowda Gautham, Liu Fang, Waltz David. Effect of bronchodilators in healthy individuals receiving lumacaftor/ivacaftor combination therapy. J Cyst Fibros. 2017;16(2):246–9.
CAS
Article
Google Scholar
Labaste A, Ohlmann C, Mainguy C, Jubin V, Perceval M, Coutier L, et al. Real-life acute lung function changes after lumacaftor/ivacaftor first administration in pediatric patients with cystic fibrosis. J Cyst Fibros. 2017;16:709–12.
CAS
Article
Google Scholar