Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE This pilot study evaluated the effect of short- and long-term ivacaftor treatment on hyperpolarized <sup>3</sup>He-magnetic resonance imaging (MRI)-defined ventilation defects in patients with cystic fibrosis aged ≥12years with a G551D-CFTR mutation. 28132845

2018

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) potentiator ivacaftor (Kalydeco®) improves clinical outcome in G551D cystic fibrosis (CF) patients. 28445004

2017

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Clinical studies in patients with cystic fibrosis and G551D-CFTR showed that the group treated with ivacaftor had improved clinical outcomes. 25755212

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Cystic Fibrosis is due to mutations in the CFTR gene.The missense mutation G551D (approx. 25712891

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Effect of ivacaftor in patients with advanced cystic fibrosis and a G551D-CFTR mutation: Safety and efficacy in an expanded access program in the United States. 25682022

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Ivacaftor has been previously assessed in patients with cystic fibrosis with Gly551Asp-CFTR or other gating mutations. 26070913

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The marked success of ivacaftor both in clinical trials and in post-licensing evaluation studies in treating patients with G551D and other gating mutations has greatly encouraged the ongoing development of similar therapies that can directly target the underlying cause of CF. 26091951

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Clinical trials have shown an improvement in lung function, weight and CF pulmonary exacerbation in adults with CFTR-G551D leading to the approval of ivacaftor as a novel CF therapy [1]. 25698453

2016

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE In 2014, ivacaftor was approved in the United States as a treatment for CF subjects aged greater than 6 years old with a copy of R117H-CFTR. 25698453

2016

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE To evaluate five common cystic fibrosis trans-membrane conductance regulator (CFTR) mutations (ΔF508, G542X, R117H, W1282X and N1303K) in the Iranian infertile men with noncongenital absence of vas deferens (CAVD) obstructive azoospermia. 21976147

2016

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE We did a 24-week, placebo-controlled, double-blind, randomised clinical trial, which enrolled 69 patients with cystic fibrosis aged 6 years and older with Arg117His-CFTR and percentage of predicted forced expiratory volume in 1 s (% predicted FEV1) of at least 40. 26070913

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE After several successful clinical trials the potentiator, ivacaftor, is now licenced for use in adults and children (>six years), with CF bearing the class III G551D mutation and FDA licence was recently expanded to include 8 additional class III mutations. 24932877

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Ivacaftor, a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator, is approved for the treatment of patients with cystic fibrosis aged 6 years or older with Gly551Asp-CFTR. 25311995

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Ivacaftor improves appearance of sinus disease on computerised tomography in cystic fibrosis patients with G551D mutation. 25145599

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Effect of ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation: patient-reported outcomes in the STRIVE randomized, controlled trial. 26135562

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation. 23757359

2014

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Although ivacaftor is currently only licensed for use in approximately 5% of the CF population (those who have at least one Gly551Asp mutation), the developmental pathway established by ivacaftor paves the way for other CFTR modulators that may benefit many more patients. 24039402

2014

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis. 24927234

2014

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The unprecedented success of ivacaftor treatment for the G551D CF patient population has generated excitement in the CF care community regarding the expansion of its use to other CF patient populations with primary or secondary gating defects. 24004658

2014

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The potentiator Kalydeco™ (also known as Ivacaftor or VX-770), developed by Vertex Pharmaceuticals, has been recently approved by the US FDA and the European Medicines Agency (EMA) for the treatment of CF patients carrying at least one CFTR allele with the p.Gly551Asp mutation (2-5 % of all patients). 23757197

2014

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The G551D cystic fibrosis transmembrane conductance regulator (CFTR) mutation is associated with severe disease in ∼5% of cystic fibrosis patients worldwide. 25148434

2014

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE A little CFTR goes a long way: CFTR-dependent sweat secretion from G551D and R117H-5T cystic fibrosis subjects taking ivacaftor. 24520399

2014

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D mutation. 23590265

2013

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE A CFTR potentiator in patients with CF and the G551D mutation.N. Engl.J.Med., 2011.365: 1663-1672.)]. 22914736

2013

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Ivacaftor (VX-770) is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator that was approved in the United States for the treatment of cystic fibrosis (CF) in patients ≥ 6 years of age who have a G551D mutation; however, the most prevalent disease-causing CFTR mutation, F508del, causes a different functional defect. 22383668

2013