|
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 |
|
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 |
|
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 |
|
rs75527207
|
|
0.900 |
GeneticVariation |
BEFREE |
Cystic Fibrosis is due to mutations in the CFTR gene.The missense mutation G551D (approx.
|
25712891 |
2016 |
|
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 |
|
rs75527207
|
|
0.900 |
GeneticVariation |
BEFREE |
Ivacaftor has been previously assessed in patients with cystic fibrosis with Gly551Asp-CFTR or other gating mutations.
|
26070913 |
2016 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs75527207
|
|
0.900 |
GeneticVariation |
BEFREE |
Ivacaftor improves appearance of sinus disease on computerised tomography in cystic fibrosis patients with G551D mutation.
|
25145599 |
2015 |
|
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 |
|
rs75527207
|
|
0.900 |
GeneticVariation |
BEFREE |
Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation.
|
23757359 |
2014 |
|
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 |
|
rs75527207
|
|
0.900 |
GeneticVariation |
BEFREE |
Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis.
|
24927234 |
2014 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |