ABCMdb

PMID: 24882694

Beekman JM, Sermet-Gaudelus I, de Boeck K, Gonska T, Derichs N, Mall MA, Mehta A, Martin U, Drumm M, Amaral MD
CFTR functional measurements in human models for diagnosis, prognosis and personalized therapy: Report on the pre-conference meeting to the 11th ECFS Basic Science Conference, Malta, 26-29 March 2014.
J Cyst Fibros. 2014 Jul;13(4):363-72. doi: 10.1016/j.jcf.2014.05.007. Epub 2014 Jun 2., [PubMed]

Sentences

No. Mutations Sentence Comment

5 ABCC7 p.Gly551Asp Recent FDA/EMEA approval of the first CFTR modulator drug (ivacaftor) for clinical use in patients with the G551D gating mutation and more recent FDA approval for another 8 class III mutations provided strong proof-of-concept that pharmacological manipulation of CFTR protein synthesis and/or function can bring clear clinical benefit to CF patients, albeit only for 4-5% of all CF patients. Login to comment 25 ABCC7 p.Gly551Asp Nasal PD (NPD) has been successfully used to measure CFTR modulator therapy in G551D patients with the potentiator ivacaftor [5]. Login to comment 58 ABCC7 p.Asp1152His Further, based solely on QPIT, patients carrying certain CFTR mutations such as 3849+10kbCNT or D1152H may not be identified as CF [15,16]. Login to comment 73 ABCC7 p.Asp1152His As shown earlier, the b2;-adrenergic sweat secretion was half-maximal in heterozygotes when compared to healthy controls and completely absent in all CF patients including those with 3849+10kbCNT or D1152H and normal sweat Cl- results. Login to comment