ABCMdb

PMID: 25088968

Chen JH
A cocktail drug therapy for patients with cystic fibrosis?
J Cyst Fibros. 2014 Sep;13(5):489-90. doi: 10.1016/j.jcf.2014.07.002. Epub 2014 Jul 24., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Gly551Asp Ivacaftor (VX-770), a CFTR potentiator approved by the US Food and Drug Administration (FDA) and the European Medicines Agency (EMA) for patients with CF aged 6 years and older carrying the G551D mutation, shows significant improvement to patients' lung function, elevating the predicted forced expiratory volume in 1 second (FEV1) by about 10% and reducing the time to first pulmonary exacerbation by about 50% [10]. Login to comment 6 ABCC7 p.Gly551Asp ABCC7 p.Gly551Ser ABCC7 p.Gly1244Glu ABCC7 p.Gly1349Asp ABCC7 p.Ser1255Pro ABCC7 p.Ser1251Asn ABCC7 p.Ser549Arg ABCC7 p.Ser549Asn ABCC7 p.Gly178Arg More recently, VX-770 has been approved by the FDA (NDA 203188, www.fda.gov) and recommended by the EMA (EMA/CHMP/365663/2014) for use with an additional eight CF gating (class III) mutations (G178R, S549N, S549R, G551S, G1244E, S1251N, S1255P and G1349D), although, including G551D, these mutations still just occur in ~5% of CF patients worldwide. Login to comment 14 ABCC7 p.Glu1371Ser Second, the mutation E1371S, which greatly stimulates channel activity by preventing ATP hydrolysis-mediated channel closure, had modest effects on the action of VX-770 [6]. Login to comment