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J Cyst Fibros. 2017 Jan;16(1):45-48. doi: 10.1016/j.jcf.2016.08.006. Epub 2016 Sep 20.

Changes of CFTR functional measurements and clinical improvements in cystic fibrosis patients with non p.Gly551Asp gating mutations treated with ivacaftor.

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INSERM U 1151, Service de Pneumo-Pédiatrie, Université Paris-Sorbonne, Paris, France.
Cystic Fibrosis Center, Carmel Medical Center, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Cystic Fibrosis Center, Hadassah-Hebrew University Medical Centre, Jerusalem, Israel.
Service d'ORL, Centre Intercommunal de Créteil, Créteil, France.
Cystic Fibrosis Center, Bambino Jesu Hospital, Roma, Italy.
Cystic Fibrosis Center, Bambino Jesu Hospital, Roma, Italy. Electronic address:
Service de Pneumologie, Centre Intercommunal de Créteil, Créteil, France.


Ivacaftor, a CFTR potentiator, has been found to improve CFTR function and clinical outcomes in patients with cystic fibrosis (CF) gating mutations. We investigated the effects of ivacaftor on CFTR functional measurement in CF patients carrying gating mutations other than p.Gly551Asp. Two siblings aged 13 and 12 carrying the p.Ser549Asn mutation, two sisters (45 and 43years old) compound heterozygotes for p.Asp1152His and p.Gly1244Glu, a 37year old man homozygous for the p.Gly1244Glu mutation, and a 7year old girl with p.Arg352Gln and p.Gly1244Glu mutations commenced treatment with ivacaftor. NPD was performed in all the patients and approached normal for four patients who had also clinical improvement (p.Ser549Asn compound heterozygotes, and p.Asp1152His/p.Gly1244Glu siblings). Beta-adrenergic sweat chloride secretion performed in thep.Asp1152His/p.Gly1244Glu patients improved significantly. The p.Gly1244Glu mutation homozygous patient, who had undergone an ileal resection with ileostomy and enterocutaneous fistula, did not respond clinically to ivacaftor and did not modify his sweat test. These results highlight the importance of different CFTR activity measurements to explore CFTR modulator efficacy.


CFTR modulators; Cystic fibrosis; Evaporimetry; Ivacaftor; Nasal potential difference; Short circuit current

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