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"FIBROSIS"
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Tezacaftor–Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis
Approximately 5% of patients with cystic fibrosis express one allele with some retained CFTR function. In a prospective trial, tezacaftor–ivacaftor had a greater effect on increasing FEV
1
than ivacaftor alone, and both ivacaftor alone and the combination were more effective than placebo.
Journal Article
Who took my breath away ? : one man's fight against a fatal lung disease
\"In 2018, I was diagnosed with Idiopathic Pulmonary Fibrosis, a fatal lung disease that typically hits people in their 60s. Not the new I expected to hear a few weeks after turning 38. The universe sure has a strange way of making us feel special!\", back cover.
Book
Efficacy and Safety of Ivacaftor in Patients Aged 6 to 11 Years with Cystic Fibrosis with a G551D Mutation
Ivacaftor (VX-770), a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator, has been shown to improve lung function, pulmonary exacerbation rate, respiratory symptoms, and weight gain compared with placebo in patients with cystic fibrosis aged 12 years or older with a G551D-CFTR mutation.
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.
Patients were randomly assigned to receive ivacaftor administered orally at 150 mg (n = 26) or placebo (n = 26) every 12 hours for 48 weeks in addition to existing prescribed cystic fibrosis therapies.
Despite near-normal mean baseline values in FEV1, patients receiving ivacaftor had a significant increase in percent predicted FEV1 from baseline through Week 24 versus placebo group (treatment effect, 12.5 percentage points; P < 0.001). Effects on pulmonary function were evident by 2 weeks, and a significant treatment effect was maintained through Week 48. Patients treated with ivacaftor gained, on average, 2.8 kg more than those receiving placebo at Week 48 (P < 0.001). The change from baseline through Week 48 in the concentration of sweat chloride, a measure of CFTR activity, with ivacaftor was -53.5 mmol/L (P < 0.001) versus placebo. The incidence of adverse events was similar in the two groups.
In patients who are younger and healthier than those in previously studied populations, ivacaftor demonstrated a significant improvement in pulmonary function, weight, and CFTR activity compared with placebo. Clinical trial registered with www.clinicaltrials.gov (NCT00909727).
Journal Article
The power of two : a twin triumph over cystic fibrosis
\"Born in 1972, twins who share this life-threatening disease give an honest portrayal of their struggle to live normal lives, their interdependence, day-to-day health care, the impact of chronic illness on marriage and family, and the importance of a support network to continuing survival\"--Provided by the publisher.
Book
Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation
BackgroundVX-809, a cystic fibrosis transmembrane conductance regulator (CFTR) modulator, has been shown to increase the cell surface density of functional F508del-CFTR in vitro.MethodsA randomised, double-blind, placebo-controlled study evaluated the safety, tolerability and pharmacodynamics of VX-809 in adult patients with cystic fibrosis (n=89) who were homozygous for the F508del-CFTR mutation. Subjects were randomised to one of four VX-809 28 day dose groups (25, 50, 100 and 200 mg) or matching placebo.ResultsThe type and incidence of adverse events were similar among VX-809- and placebo-treated subjects. Respiratory events were the most commonly reported and led to discontinuation by one subject in each active treatment arm. Pharmacokinetic data supported a once-daily oral dosing regimen. Pharmacodynamic data suggested that VX-809 improved CFTR function in at least one organ (sweat gland). VX-809 reduced elevated sweat chloride values in a dose-dependent manner (p=0.0013) that was statistically significant in the 100 and 200 mg dose groups. There was no statistically significant improvement in CFTR function in the nasal epithelium as measured by nasal potential difference, nor were there statistically significant changes in lung function or patient-reported outcomes. No maturation of immature F508del-CFTR was detected in the subgroup that provided rectal biopsy specimens.ConclusionsIn this study, VX-809 had a similar adverse event profile to placebo for 28 days in F508del-CFTR homozygous patients, and demonstrated biological activity with positive impact on CFTR function in the sweat gland. Additional data are needed to determine how improvements detected in CFTR function secondary to VX-809 in the sweat gland relate to those measurable in the respiratory tract and to long-term measures of clinical benefit.Clinical trial numberNCT00865904
Journal Article
Not as we know it
Can a mysterious sea creature save eleven-year-old Jamie's very sick twin brother?
Book
Nutritional Status Improved in Cystic Fibrosis Patients with the G551D Mutation After Treatment with Ivacaftor
Background
The cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gating mutation
G551D
prevents sufficient ion transport due to reduced channel-open probability. Ivacaftor, an oral CFTR potentiator, increases the channel-open probability.
Aim
To further analyze improvements in weight and body mass index (BMI) in two studies of ivacaftor in patients aged ≥6 years with CF and the
G551D
mutation.
Methods
Patients were randomized 1:1 to ivacaftor 150 mg or placebo every 12 h for 48 weeks. Primary end point (lung function) was reported previously. Other outcomes included weight and height measurements and CF Questionnaire-Revised (CFQ-R).
Results
Studies included 213 patients (aged ≤ 20 years,
n
= 105; aged > 20 years,
n
= 108). In patients ≤20 years, adjusted mean change from baseline to week 48 in body weight was 4.9 versus 2.2 kg (ivacaftor vs. placebo,
p
= 0.0008). At week 48, change from baseline in mean weight-for-age
z
-score was 0.29 versus −0.06 (
p
< 0.0001); change in mean BMI-for-age
z
-score was 0.26 versus −0.13 (
p
< 0.0001). In patients >20 years, adjusted mean change from baseline to week 48 in body weight was 2.7 versus −0.2 kg (
p
= 0.0003). Mean BMI change at week 48 was 0.9 versus −0.1 kg/m
2
(
p
= 0.0003). There was no linear correlation evident between changes in body weight and improvements in lung function or sweat chloride. Significant CFQ-R improvements were seen in perception of eating, body image, and sense of ability to gain weight.
Conclusions
Nutritional status improved following treatment with ivacaftor for 48 weeks.
Journal Article
Salt in my soul : an unfinished life
\"Diagnosed with cystic fibrosis at the age of three, Mallory Smith grew into a determined, talented young woman who inspired others even as she raged against her illness. Despite the daily challenges of endless medical treatments and a deep understanding that she'd never lead a normal life, Mallory was determined to 'live happy,' a mantra she followed until her death\"-- Provided by publisher.
Book
A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation
Ivacaftor, a potentiator of CFTR, was studied in patients with cystic fibrosis (CF) who had mutations that reduced the function of the CFTR protein. Ivacaftor significantly improved FEV
1
and reduced pulmonary exacerbations; it holds promise in the treatment of selected patients with CF.
Cystic fibrosis, the most common lethal genetic disease in whites, affects approximately 70,000 people worldwide.
1
–
3
There is no cure for this disease, and the progressive lung disease associated with it is the leading cause of death. Current treatments for cystic fibrosis target the secondary effects of dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) protein.
The CFTR protein is an epithelial ion channel contributing to the regulation of absorption and secretion of salt and water in various tissues, including the lung, sweat glands, pancreas, and gastrointestinal tract.
4
,
5
Cystic fibrosis is caused by mutations in
CFTR
that affect . . .
Journal Article