rs75527207
|
|
Cystic Fibrosis
|
|
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 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Cystic Fibrosis is due to mutations in the CFTR gene.The missense mutation G551D (approx.
|
25712891 |
2015 |
rs75527207
|
|
Cystic Fibrosis
|
|
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 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Clinical trials have shown an improvement in lung function, weight and CF pulmonary exacerbation in adults with CFTR-G551D</span> leading to the approval of ivacaftor as a novel CF therapy [1].
|
25698453 |
2015 |
rs75527207
|
|
Cystic Fibrosis
|
|
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 |
rs75527207
|
|
Cystic Fibrosis
|
|
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 |
rs75527207
|
|
Cystic Fibrosis
|
|
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 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Ivacaftor has been previously assessed in patients with cystic fibrosis with Gly551Asp-CFTR or other gating mutations.
|
26070913 |
2015 |
rs75527207
|
|
Cystic Fibrosis
|
|
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 |
rs75527207
|
|
Cystic Fibrosis
|
|
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 |
rs75527207
|
|
Cystic Fibrosis
|
|
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 |
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Spectrum and distribution of CFTR gene mutations in asthma and chronic pancreatitis cases of North Indian population.
|
24440239 |
2014 |
rs75527207
|
|
Cystic Fibrosis
|
|
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 |
rs75527207
|
|
Cystic Fibrosis
|
|
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 |
rs75527207
|
|
Cystic Fibrosis
|
|
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 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recently, one such modulator, the CFTR potentiator ivacaftor, was approved as an oral therapy for CF patients with the G551D-CFTR mutation.
|
23457166 |
2013 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation.
|
23757359 |
2013 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
The G551D CFTR mutation is the third most common CF disease-causing mutation, in which the CFTR protein localizes to the epithelial cell membrane but has defective gating.
|
23616952 |
2013 |
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Ivacaftor in a G551D homozygote with cystic fibrosis.
|
24066763 |
2013 |
rs75527207
|
|
Cystic Fibrosis
|
|
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 |
rs75527207
|
|
Cystic Fibrosis
|
|
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 |
rs75527207
|
|
Cystic Fibrosis
|
A |
0.900 |
CausalMutation
|
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
In the era of personalised medicine, ivacaftor offers an effective and well-tolerated treatment for the clinical management of CF patients with the G551D mutation.
|
23457167 |
2013 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
This randomized, double-blind, placebo-controlled trial evaluated ivacaftor in patients with cystic fibrosis aged 6-11 years with a G551D-CFTR mutation on at least one allele.
|
23590265 |
2013 |
rs75527207
|
|
Cystic Fibrosis
|
|
0.900 |
GeneticVariation
|
BEFREE |
Ivacaftor was approved by the Food and Drug Administration (FDA) to be taken orally at a dose of 150 mg twice a day in G551D CF patients older than 6 years.
|
22739718 |
2012 |