S18 Ivacaftor treatment in preschool children with cystic fibrosis and a CFTR gating mutation: extended evaluation: Abstract S18 Table 1
نویسندگان
چکیده
منابع مشابه
Ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation.
Cystic fibrosis (CF) is an autosomal recessive lethal disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that encodes for CFTR, an epithelial cell-surface expressed protein responsible for the transport of chloride (Cl(-)). Gating mutations associated with defective conductance can be modulated by CFTR potentiators. Ivacaftor is a CFTR potentiator...
متن کاملTezacaftor/Ivacaftor in Subjects with Cystic Fibrosis and F508del/F508del-CFTR or F508del/G551D-CFTR.
RATIONALE Tezacaftor (formerly VX-661) is an investigational small molecule that improves processing and trafficking of the cystic fibrosis transmembrane conductance regulator (CFTR) in vitro, and improves CFTR function alone and in combination with ivacaftor. OBJECTIVES To evaluate the safety and efficacy of tezacaftor monotherapy and of tezacaftor/ivacaftor combination therapy in subjects w...
متن کاملGrowth in Prepubertal Children With Cystic Fibrosis Treated With Ivacaftor.
BACKGROUND AND OBJECTIVES Cystic fibrosis (CF) is known for its impact on the lung and pancreas of individuals; however, impaired growth is also a common complication. We hypothesized that targeting the biological defect in the CF transmembrane conductance regulator (CFTR) protein may affect growth outcomes. METHODS In this post hoc analysis, we assessed linear growth and weight in 83 childre...
متن کاملS18-02 Inferring molecular networks
The ability to maintain a proportionate body plan in individuals of different sizes is essential for proper development. Despite wide interest, little is known about the mechanisms underlying scaling with size. I will discuss our efforts to reveal the molecular basis for scaling in different systems. A general ‘‘Expansion– Repression’’ feedback topology will be presented, which ensures scaling ...
متن کاملLumacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease homozygous for F508del-CFTR.
OBJECTIVE Evaluation of the safety, tolerability, and efficacy of lumacaftor/ivacaftor in patients with cystic fibrosis (CF) with severe lung disease. METHODS Patients with CF 12 years of age and older, homozygous for F508del-CFTR, with percent predicted forced expiratory volume in 1 second (ppFEV1) <40 received lumacaftor 400 mg/ivacaftor 250mg every 12h (full dose) for 24weeks in an open-la...
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ژورنال
عنوان ژورنال: Thorax
سال: 2015
ISSN: 0040-6376,1468-3296
DOI: 10.1136/thoraxjnl-2015-207770.24