ABCMdb

PMID: 24832698

Balfour-Lynn IM
Personalised medicine in cystic fibrosis is unaffordable.
Paediatr Respir Rev. 2014 Jun;15 Suppl 1:2-5. doi: 10.1016/j.prrv.2014.04.003. Epub 2014 Apr 13., [PubMed]

Sentences

No. Mutations Sentence Comment

22 ABCC7 p.Gly551Asp In cystic fibrosis (CF), the best example is the CFTR (CF transmembrane conductance regulator) potentiator, ivacaftor, relevant to the 5% of cystic fibrosis patients with the p.Gly551Asp gene mutation. Login to comment 35 ABCC7 p.Gly551Asp The best example of personalised medicine in CF is the drug ivacaftor currently in clinical use for one of the gating mutations - p.Gly551Asp. Login to comment 37 ABCC7 p.Gly551Asp ABCC7 p.Gly551Ser ABCC7 p.Gly1244Glu ABCC7 p.Gly1349Asp ABCC7 p.Ser1255Pro ABCC7 p.Ser1251Asn ABCC7 p.Gly970Arg ABCC7 p.Gly178Arg It is currently licensed for use only in those with the p.Gly551Asp mutation; but a further license has been recently approved in the USA for use in other rarer gating mutations (G178R, G551S, S549N, S549R, G970R, G1244E, S1251N, S1255P, or G1349D). Login to comment 74 ABCC7 p.Gly551Asp According to the CF Registry 2012 annual report (https://www.cysticfibrosis.org.uk/media/316760/Scientific%20 Registry%20Review%202012.pdf), there are 471 patients with at least one p.Gly551Asp gene mutation in the UK. Login to comment