ABCMdb

PMID: 26410289

Nwokoro CE
Highlights of the 28(th) North American Cystic Fibrosis Conference 2014.
Paediatr Respir Rev. 2015 Oct;16 Suppl 1:12-4. doi: 10.1016/j.prrv.2015.07.009. Epub 2015 Sep 26., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Gly551Asp Moving from the discovery of the CFTR gene and the various mutation classes, he described the experience thus far with Ivacaftor, touching on the range of clinical effects seen in the G551D subgroup. Login to comment 7 ABCC7 p.Gly551Asp The GOAL study, a follow-on of 153 G551D patients prescribed Ivacaftor as part of routine therapy, was revisited to show that CFTR potentiation significantly reduced hospitalization and pseudomonas isolation compared to that observed prior to starting Ivacaftor [3]. Login to comment 23 ABCC7 p.Arg117His Data was also presented regarding the potential of Ivacaftor in R117H patients and of the class 1 corrector Ataluren, both of which have shown promise, while the failure of the Ivacaftor/Lumacaftor combination in F508del heterozygotes was also discussed. Login to comment 26 ABCC7 p.Gly551Asp Part A involved 9 G551D patients receiving BD Ivacaftor at 50 mg (<14 kg) or 75 mg (>14 kg) for 4 days, with pharmacokinetics and safety data collected. Login to comment 27 ABCC7 p.Gly551Asp Part B comprised a 34 patient follow on (all but 2 recruits were G551D carriers) which additionally recorded FEV-1, faecal elastase (FE-1), anthropometry and palatability data over 24 weeks. Login to comment 37 ABCC7 p.Gly551Asp Further expansion of modifier coverage will be possible following the alteration of the European Commission license for Ivacaftor to include patients with non-G551D gating mutations. Login to comment