Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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

2013

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

2013

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The G551D mutation is reasonably common in the CF patient population and produces a CFTR protein that localizes normally to the plasma membrane, but fails to open in response to cellular cues. 24004658

2013

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

2013

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE We conducted a longitudinal cohort study in 2012-2013 in G551D CF patients age 6 and older with no prior exposure to ivacaftor. 24927234

2014

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 corrects the cystic fibrosis transmembrane conductance regulator (CFTR) gating defect associated with G551D mutation and is quickly becoming an important treatment in patients with cystic fibrosis (CF) due to this genetic mutation. 25049054

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Patients with CF and G551D mutation, within 6 months of starting ivacaftor had significant improvements in weight, BMI and mean % FEV1. 25145599

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

2014

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Case report of 1 patient with long-standing chronic sinus disease and a new diagnosis of CF with a mild mutation (P205S) and a severe mutation (G551D). 25363320

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The G551D Observational Study enrolled a longitudinal observational cohort of US patients with CF aged 6 years and older with at least 1 copy of the G551D mutation. 25425629

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Extensive medicinal chemistry and iterative structure-activity relationship (SAR) studies to evaluate potency, selectivity, and pharmacokinetic properties resulted in the identification of N-(2,4-di-tert-butyl-5-hydroxyphenyl)-4-oxo-1,4-dihydroquinoline-3-carboxamide (VX-770, 48, ivacaftor), an investigational drug candidate approved by the FDA for the treatment of CF patients 6 years of age and older carrying the G551D mutation. 25441013

2014

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 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

2015

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

2015

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

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Alterations in blood leukocytes of G551D-bearing cystic fibrosis patients undergoing treatment with ivacaftor. 25769931

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

2015

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

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE STRIVE, a double-blind, placebo-controlled randomized trial, evaluated ivacaftor (150 mg) in CF patients aged 12+ with the G551D-CFTR mutation for 48 weeks. 26135562

2015

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The most common mutations in CFTR are a deletion of a phenylalanine residue at position 508 (ΔF508-CFTR, 70-80 % of CF phenotypes) and a Gly551Asp substitution (G551D-CFTR, 4-5 % of alleles), which lead to decreased or almost abolished Cl(-) channel function, respectively. 26874684

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Variability of sweat chloride concentration in subjects with cystic fibrosis and G551D mutations. 26996268

2017

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The potentiator VX-770 (ivacaftor/KALYDECO™) targets defective gating of CFTR and has been approved for treatment of cystic fibrosis (CF) subjects carrying G551D, S1251N or one of 8 other mutations. 27160424

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The potentiator VX-770 was the first CFTR modulator approved by the FDA for treatment of CF patients with the gating mutation G551D. 27402691

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE This study analyzed plasma fatty acid levels and urine prostaglandin E metabolites (PGE-M) in 40 subjects with CF participating in the G551D observational (GOAL) study who demonstrated response to the medication by a significant decrease in sweat Cl levels. 27473897

2017