WS23.6 Ivacaftor treatment in patients with cystic fibrosis who have an R117H-CFTR mutation, the KONDUCT study
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چکیده
منابع مشابه
Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation.
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...
متن کاملMolecular screening of R117H mutation in non caucasian cystic fibrosis patients in the north of Iran
Cystic fibrosis is an autosomal recessive disease caused by a wide spectrum of mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator protein. These mutations that correlate with different phenotypes, vary in their frequency and distribution in different populations. In this study missense mutation R117H that associated with the different clinical symptoms wa...
متن کاملPseudomonas aeruginosa in cystic fibrosis patients with G551D-CFTR treated with ivacaftor.
BACKGROUND Ivacaftor improves outcomes in cystic fibrosis (CF) patients with the G551D mutation; however, effects on respiratory microbiology are largely unknown. This study examines changes in CF respiratory pathogens with ivacaftor and correlates them with baseline characteristics and clinical response. METHODS The G551D Observational Study enrolled a longitudinal observational cohort of US...
متن کاملTezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR.
RATIONALE Tezacaftor (formerly VX-661) is an investigational small molecule that improves processing and trafficking of the cystic fibrosis transmembrane conductance regulator (CFTR) in vitro, and improves CFTR function alone and in combination with ivacaftor. OBJECTIVES To evaluate the safety and efficacy of tezacaftor monotherapy and of tezacaftor/ivacaftor combination therapy in subjects w...
متن کاملLumacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease homozygous for F508del-CFTR.
OBJECTIVE Evaluation of the safety, tolerability, and efficacy of lumacaftor/ivacaftor in patients with cystic fibrosis (CF) with severe lung disease. METHODS Patients with CF 12 years of age and older, homozygous for F508del-CFTR, with percent predicted forced expiratory volume in 1 second (ppFEV1) <40 received lumacaftor 400 mg/ivacaftor 250mg every 12h (full dose) for 24weeks in an open-la...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2014
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(14)60137-5