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Volumn 3, Issue 7, 2015, Pages 524-533

Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: A double-blind, randomised controlled trial

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; IVACAFTOR; PLACEBO; AMINOPHENOL DERIVATIVE; CFTR PROTEIN, HUMAN; CHLORIDE CHANNEL; QUINOLONE DERIVATIVE; RESPIRATORY TRACT AGENT;

EID: 84943138352     PISSN: 22132600     EISSN: 22132619     Source Type: Journal    
DOI: 10.1016/S2213-2600(15)00201-5     Document Type: Article
Times cited : (199)

References (39)
  • 1
    • 0024453308 scopus 로고
    • Identification of the cystic fibrosis gene: chromosome walking and jumping
    • Rommens JM, Iannuzzi MC, Kerem B, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989, 245:1059-1065.
    • (1989) Science , vol.245 , pp. 1059-1065
    • Rommens, J.M.1    Iannuzzi, M.C.2    Kerem, B.3
  • 2
    • 34047166052 scopus 로고    scopus 로고
    • Airway surface dehydration in cystic fibrosis: pathogenesis and therapy
    • Boucher RC Airway surface dehydration in cystic fibrosis: pathogenesis and therapy. Annu Rev Med 2007, 58:157-170.
    • (2007) Annu Rev Med , vol.58 , pp. 157-170
    • Boucher, R.C.1
  • 3
    • 84878970875 scopus 로고    scopus 로고
    • Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation
    • Davies JC, Wainwright CE, Canny GJ, et al. Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation. Am J Respir Crit Care Med 2013, 187:1219-1225.
    • (2013) Am J Respir Crit Care Med , vol.187 , pp. 1219-1225
    • Davies, J.C.1    Wainwright, C.E.2    Canny, G.J.3
  • 5
    • 0027408231 scopus 로고
    • Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties
    • Sheppard DN, Rich DP, Ostedgaard LS, Gregory RJ, Smith AE, Welsh MJ Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties. Nature 1993, 362:160-164.
    • (1993) Nature , vol.362 , pp. 160-164
    • Sheppard, D.N.1    Rich, D.P.2    Ostedgaard, L.S.3    Gregory, R.J.4    Smith, A.E.5    Welsh, M.J.6
  • 6
    • 0027521663 scopus 로고
    • A mutation in CFTR produces different phenotypes depending on chromosomal background
    • Kiesewetter S, Macek M, Davis C, et al. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nat Genet 1993, 5:274-278.
    • (1993) Nat Genet , vol.5 , pp. 274-278
    • Kiesewetter, S.1    Macek, M.2    Davis, C.3
  • 8
    • 0036258208 scopus 로고    scopus 로고
    • Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening
    • Bobadilla JL, Macek M, Fine JP, Farrell PM Cystic fibrosis: a worldwide analysis of CFTR mutations-correlation with incidence data and application to screening. Hum Mutat 2002, 19:575-606.
    • (2002) Hum Mutat , vol.19 , pp. 575-606
    • Bobadilla, J.L.1    Macek, M.2    Fine, J.P.3    Farrell, P.M.4
  • 9
    • 79953094687 scopus 로고    scopus 로고
    • CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening
    • Chavez-Saldana M, Yokoyama E, Lezana JL, et al. CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening. Rev Invest Clin 2010, 62:546-552.
    • (2010) Rev Invest Clin , vol.62 , pp. 546-552
    • Chavez-Saldana, M.1    Yokoyama, E.2    Lezana, J.L.3
  • 10
    • 0033860259 scopus 로고    scopus 로고
    • Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France
    • Claustres M, Guittard C, Bozon D, et al. Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. Hum Mutat 2000, 16:143-156.
    • (2000) Hum Mutat , vol.16 , pp. 143-156
    • Claustres, M.1    Guittard, C.2    Bozon, D.3
  • 11
    • 34047265467 scopus 로고    scopus 로고
    • Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry
    • Alonso MJ, Heine-Suner D, Calvo M, et al. Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry. Ann Hum Genet 2007, 71:194-201.
    • (2007) Ann Hum Genet , vol.71 , pp. 194-201
    • Alonso, M.J.1    Heine-Suner, D.2    Calvo, M.3
  • 12
    • 0030754623 scopus 로고    scopus 로고
    • Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium
    • Estivill X, Bancells C, Ramos C Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. Hum Mutat 1997, 10:135-154.
    • (1997) Hum Mutat , vol.10 , pp. 135-154
    • Estivill, X.1    Bancells, C.2    Ramos, C.3
  • 13
    • 0028877929 scopus 로고
    • Geographic and ethnic distributions of the more frequent cystic fibrosis mutations in Europe show that a founder effect is apparent for several mutant alleles
    • Lucotte G, Hazout S Geographic and ethnic distributions of the more frequent cystic fibrosis mutations in Europe show that a founder effect is apparent for several mutant alleles. Hum Biol 1995, 67:562-576.
    • (1995) Hum Biol , vol.67 , pp. 562-576
    • Lucotte, G.1    Hazout, S.2
  • 14
    • 72449149800 scopus 로고    scopus 로고
    • The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
    • Thauvin-Robinet C, Munck A, Huet F, et al. The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening. J Med Genet 2009, 46:752-758.
    • (2009) J Med Genet , vol.46 , pp. 752-758
    • Thauvin-Robinet, C.1    Munck, A.2    Huet, F.3
  • 15
    • 77249140148 scopus 로고    scopus 로고
    • Clinical phenotype of cystic fibrosis patients with the G551D mutation
    • Comer DM, Ennis M, McDowell C, et al. Clinical phenotype of cystic fibrosis patients with the G551D mutation. QJM 2009, 102:793-798.
    • (2009) QJM , vol.102 , pp. 793-798
    • Comer, D.M.1    Ennis, M.2    McDowell, C.3
  • 16
    • 0038663174 scopus 로고    scopus 로고
    • Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study
    • McKone EF, Emerson SS, Edwards KL, Aitken ML Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. Lancet 2003, 361:1671-1676.
    • (2003) Lancet , vol.361 , pp. 1671-1676
    • McKone, E.F.1    Emerson, S.S.2    Edwards, K.L.3    Aitken, M.L.4
  • 17
    • 84862776940 scopus 로고    scopus 로고
    • Ivacaftor potentiation of multiple CFTR channels with gating mutations
    • Yu H, Burton B, Huang CJ, et al. Ivacaftor potentiation of multiple CFTR channels with gating mutations. J Cyst Fibros 2012, 11:237-245.
    • (2012) J Cyst Fibros , vol.11 , pp. 237-245
    • Yu, H.1    Burton, B.2    Huang, C.J.3
  • 18
    • 73249114731 scopus 로고    scopus 로고
    • Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770
    • Van Goor F, Hadida S, Grootenhuis PD, et al. Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770. Proc Natl Acad Sci USA 2009, 106:18825-18830.
    • (2009) Proc Natl Acad Sci USA , vol.106 , pp. 18825-18830
    • Van Goor, F.1    Hadida, S.2    Grootenhuis, P.D.3
  • 19
    • 80455162465 scopus 로고    scopus 로고
    • A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
    • Ramsey BW, Davies J, McElvaney NG, et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med 2011, 365:1663-1672.
    • (2011) N Engl J Med , vol.365 , pp. 1663-1672
    • Ramsey, B.W.1    Davies, J.2    McElvaney, N.G.3
  • 20
    • 84911493956 scopus 로고    scopus 로고
    • Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation
    • De Boeck K, Munck A, Walker S, et al. Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation. J Cyst Fibros 2014, 13:674-680.
    • (2014) J Cyst Fibros , vol.13 , pp. 674-680
    • De Boeck, K.1    Munck, A.2    Walker, S.3
  • 21
    • 0031900652 scopus 로고    scopus 로고
    • The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel
    • Rosenstein BJ, Cutting GR The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 1998, 132:589-595.
    • (1998) J Pediatr , vol.132 , pp. 589-595
    • Rosenstein, B.J.1    Cutting, G.R.2
  • 22
    • 0029090616 scopus 로고
    • Standardization of spirometry, 1994 update
    • American Thoracic Society
    • Standardization of spirometry, 1994 update. Am J Respir Crit Care Med 1995, 152:1107-1136. American Thoracic Society.
    • (1995) Am J Respir Crit Care Med , vol.152 , pp. 1107-1136
  • 23
    • 27144479427 scopus 로고    scopus 로고
    • Development and validation of The Cystic Fibrosis Questionnaire in the United States: a health-related quality-of-life measure for cystic fibrosis
    • 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, 128:2347-2354.
    • (2005) Chest , vol.128 , pp. 2347-2354
    • Quittner, A.L.1    Buu, A.2    Messer, M.A.3    Modi, A.C.4    Watrous, M.5
  • 24
    • 66649116259 scopus 로고    scopus 로고
    • 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
    • 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, 135:1610-1618.
    • (2009) Chest , vol.135 , pp. 1610-1618
    • Quittner, A.L.1    Modi, A.C.2    Wainwright, C.3    Otto, K.4    Kirihara, J.5    Montgomery, A.B.6
  • 25
    • 84890435909 scopus 로고    scopus 로고
    • Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function
    • Van Goor F, Yu H, Burton B, Hoffman BJ Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. J Cyst Fibros 2014, 13:29-36.
    • (2014) J Cyst Fibros , vol.13 , pp. 29-36
    • Van Goor, F.1    Yu, H.2    Burton, B.3    Hoffman, B.J.4
  • 26
    • 84937632681 scopus 로고    scopus 로고
    • Ivacaftor as salvage therapy in a patient with cystic fibrosis genotype F508del/R117H/IVS8-5T
    • published online Feb 16.
    • Carter S, Kelly S, Caples E, et al. Ivacaftor as salvage therapy in a patient with cystic fibrosis genotype F508del/R117H/IVS8-5T. J Cyst Fibros 2015, published online Feb 16. 10.1016/j.jcf.2015.01.010.
    • (2015) J Cyst Fibros
    • Carter, S.1    Kelly, S.2    Caples, E.3
  • 27
    • 84895543366 scopus 로고    scopus 로고
    • A little CFTR goes a long way: CFTR-dependent sweat secretion from G551D and R117H-5T cystic fibrosis subjects taking ivacaftor
    • Char JE, Wolfe MH, Cho HJ, et al. A little CFTR goes a long way: CFTR-dependent sweat secretion from G551D and R117H-5T cystic fibrosis subjects taking ivacaftor. PLoS One 2014, 9:e88564.
    • (2014) PLoS One , vol.9
    • Char, J.E.1    Wolfe, M.H.2    Cho, H.J.3
  • 28
    • 0034894085 scopus 로고    scopus 로고
    • Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C
    • Massie RJ, Poplawski N, Wilcken B, Goldblatt J, Byrnes C, Robertson C Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. Eur Respir J 2001, 17:1195-1200.
    • (2001) Eur Respir J , vol.17 , pp. 1195-1200
    • Massie, R.J.1    Poplawski, N.2    Wilcken, B.3    Goldblatt, J.4    Byrnes, C.5    Robertson, C.6
  • 29
    • 84943204203 scopus 로고    scopus 로고
    • Clinical characteristics of CF patients with R117H mutation and different polythymidine tract variants
    • [abstract]. Presented at the 28th Annual North American Cystic Fibrosis Conference, Atlanta, GA, October 9-11
    • Shteinberg M, Downey D, Beattie D, et al. Clinical characteristics of CF patients with R117H mutation and different polythymidine tract variants [abstract]. Presented at the 28th Annual North American Cystic Fibrosis Conference, Atlanta, GA, October 9-11, 2014.
    • (2014)
    • Shteinberg, M.1    Downey, D.2    Beattie, D.3
  • 30
    • 0027860357 scopus 로고
    • Inhibition of the cystic fibrosis transmembrane conductance regulator by ATP-sensitive K+ channel regulators
    • Sheppard DN, Welsh MJ Inhibition of the cystic fibrosis transmembrane conductance regulator by ATP-sensitive K+ channel regulators. Ann NY Acad Sci 1993, 707:275-284.
    • (1993) Ann NY Acad Sci , vol.707 , pp. 275-284
    • Sheppard, D.N.1    Welsh, M.J.2
  • 31
    • 0027517995 scopus 로고
    • The Cystic Fibrosis Genotype-Phenotype Consortium
    • Correlation between genotype and phenotype in patients with cystic fibrosis
    • The Cystic Fibrosis Genotype-Phenotype Consortium. N Engl J Med 1993, 329:1308-1313. Correlation between genotype and phenotype in patients with cystic fibrosis.
    • (1993) N Engl J Med , vol.329 , pp. 1308-1313
  • 32
    • 15844373505 scopus 로고    scopus 로고
    • Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers
    • Morral N, Dork T, Llevadot R, et al. Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers. Hum Mutat 1996, 8:149-159.
    • (1996) Hum Mutat , vol.8 , pp. 149-159
    • Morral, N.1    Dork, T.2    Llevadot, R.3
  • 33
    • 0028043995 scopus 로고
    • Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC->T provide evidence of mutation recurrence in the CFTR gene
    • Morral N, Llevadot R, Casals T, et al. Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC->T provide evidence of mutation recurrence in the CFTR gene. Am J Hum Genet 1994, 55:890-898.
    • (1994) Am J Hum Genet , vol.55 , pp. 890-898
    • Morral, N.1    Llevadot, R.2    Casals, T.3
  • 34
    • 0031037337 scopus 로고    scopus 로고
    • The molecular basis of partial penetrance of splicing mutations in cystic fibrosis
    • Rave-Harel N, Kerem E, Nissim-Rafinia M, et al. The molecular basis of partial penetrance of splicing mutations in cystic fibrosis. Am J Hum Genet 1997, 60:87-94.
    • (1997) Am J Hum Genet , vol.60 , pp. 87-94
    • Rave-Harel, N.1    Kerem, E.2    Nissim-Rafinia, M.3
  • 35
    • 31344474603 scopus 로고    scopus 로고
    • Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8
    • Peckham D, Conway SP, Morton A, Jones A, Webb K Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8. J Cyst Fibros 2006, 5:63-65.
    • (2006) J Cyst Fibros , vol.5 , pp. 63-65
    • Peckham, D.1    Conway, S.P.2    Morton, A.3    Jones, A.4    Webb, K.5
  • 36
    • 77449133011 scopus 로고    scopus 로고
    • Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond
    • Borowitz D, Parad RB, Sharp JK, et al. Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. J Pediatr 2009, 155:S106-S116.
    • (2009) J Pediatr , vol.155 , pp. S106-S116
    • Borowitz, D.1    Parad, R.B.2    Sharp, J.K.3
  • 37
    • 9144235448 scopus 로고    scopus 로고
    • Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign
    • Groman JD, Hefferon TW, Casals T, et al. Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign. Am J Hum Genet 2004, 74:176-179.
    • (2004) Am J Hum Genet , vol.74 , pp. 176-179
    • Groman, J.D.1    Hefferon, T.W.2    Casals, T.3
  • 38
    • 0033852601 scopus 로고    scopus 로고
    • Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations
    • Nissim-Rafinia M, Chiba-Falek O, Sharon G, Boss A, Kerem B Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations. Hum Mol Genet 2000, 9:1771-1778.
    • (2000) Hum Mol Genet , vol.9 , pp. 1771-1778
    • Nissim-Rafinia, M.1    Chiba-Falek, O.2    Sharon, G.3    Boss, A.4    Kerem, B.5
  • 39
    • 84880065252 scopus 로고    scopus 로고
    • Two salt bridges differentially contribute to the maintenance of cystic fibrosis transmembrane conductance regulator (CFTR) channel function
    • Cui G, Freeman CS, Knotts T, Prince CZ, Kuang C, McCarty NA Two salt bridges differentially contribute to the maintenance of cystic fibrosis transmembrane conductance regulator (CFTR) channel function. J Biol Chem 2013, 288:20758-20767.
    • (2013) J Biol Chem , vol.288 , pp. 20758-20767
    • Cui, G.1    Freeman, C.S.2    Knotts, T.3    Prince, C.Z.4    Kuang, C.5    McCarty, N.A.6


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