P268 Liver tests in F508del homozygous cystic fibrosis patients on Orkambi
نویسندگان
چکیده
منابع مشابه
Lumacaftor/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...
متن کاملDecoding F508del Misfolding in Cystic Fibrosis
The functional deficiency of the cystic fibrosis transmembrane conductance regulator (CFTR), a plasma membrane chloride channel, leads to the development of cystic fibrosis. The deletion of a phenylalanine at residue 508 (F508del) is the most common cause of CFTR misfolding leading to the disease. The F508del misfolding originates in the first nucleotide-binding domain (NBD1), which induces a g...
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 کاملLumacaftor-ivacaftor (Orkambi) for cystic fibrosis: behind the 'breakthrough'.
Lumacaftor-ivacaftor (Orkambi) was recently approved by the Food and Drug Administration (FDA) in the USA to treat patients at least 12 years old who have cystic fibrosis due to two copies of the F508del (Phe508del) mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Lumacaftor-ivacaftor has been designated a ‘breakthrough’ and is slated to cost $259 000 per year pe...
متن کاملMaintaining Respiratory Health in Cystic Fibrosis Patients
Cystic fibrosis (CF) is an inherited disease that primarily affects the lungs and the digestive system, however, it also affects a number of other organs and systems. More than 90% of mortality of CF patients is due to lung complications. Healthy lungs are important for a long life for people with CF, We will discuss two important topics for maintaining respiratory health. Chronic use of drug...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2019
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(19)30561-2