TY - JOUR
T1 - Ivacaftor for the p.Ser549Arg (S549R) gating mutation – The Israeli experience
AU - Dagan, Adi
AU - Cohen-Cymberknoh, Malena
AU - Shteinberg, Michal
AU - Levine, Hagit
AU - Vilozni, Daphna
AU - Bezalel, Yael
AU - Bar Aluma, Bat El
AU - Sarouk, Ifat
AU - Ashkenazi, Moshe
AU - Lavie, Moran
AU - Tsabari, Reuven
AU - Blau, Hannah
AU - Kerem, Eitan
AU - Bentur, Lea
AU - Efrati, Ori
AU - Livnat, Galit
N1 - Publisher Copyright:
© 2017 Elsevier Ltd
PY - 2017/10
Y1 - 2017/10
N2 - Background Ivacaftor is a drug that increases the probability of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel remaining open. Information about the efficacy of ivacaftor in patients carrying the rare p.Ser549Arg (S549R) CFTR mutation is sparse. Aim Efficacy of ivacaftor treatment in patients carrying the p.Ser549Arg (S549R) CFTR mutation. Methods Data obtained from CF patients receiving ivacaftor for one year. Results Eight CF patients, mean age 21 ± 10 years, received ivacaftor. After one year, significant improvement was found in FEV1, increasing from 74% to 88% (p < 0.001), FVC, 89% to 101% (p = 0.019), and FEF25-75, 59%–76% (p = 0.019). Sweat chloride concentration decreased from 116 ± 8 mmol/L to 51 ± 17 mmol/L (p < 0.001), and BMI increased from 20 ± 3 to 22 ± 4 (p = 0.003). Glucose tolerance improved in five patients. There was no significant change in bacterial colonization. Conclusions Ivacaftor therapy resulted in significant clinical improvement in patients carrying the p.Ser549Arg (S549R) CFTR mutation.
AB - Background Ivacaftor is a drug that increases the probability of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel remaining open. Information about the efficacy of ivacaftor in patients carrying the rare p.Ser549Arg (S549R) CFTR mutation is sparse. Aim Efficacy of ivacaftor treatment in patients carrying the p.Ser549Arg (S549R) CFTR mutation. Methods Data obtained from CF patients receiving ivacaftor for one year. Results Eight CF patients, mean age 21 ± 10 years, received ivacaftor. After one year, significant improvement was found in FEV1, increasing from 74% to 88% (p < 0.001), FVC, 89% to 101% (p = 0.019), and FEF25-75, 59%–76% (p = 0.019). Sweat chloride concentration decreased from 116 ± 8 mmol/L to 51 ± 17 mmol/L (p < 0.001), and BMI increased from 20 ± 3 to 22 ± 4 (p = 0.003). Glucose tolerance improved in five patients. There was no significant change in bacterial colonization. Conclusions Ivacaftor therapy resulted in significant clinical improvement in patients carrying the p.Ser549Arg (S549R) CFTR mutation.
KW - Cystic fibrosis
KW - Gating mutation
KW - Ivacaftor
KW - p.Ser549Arg (S549R)
UR - http://www.scopus.com/inward/record.url?scp=85029088795&partnerID=8YFLogxK
U2 - 10.1016/j.rmed.2017.08.026
DO - 10.1016/j.rmed.2017.08.026
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C2 - 28947035
AN - SCOPUS:85029088795
SN - 0954-6111
VL - 131
SP - 225
EP - 228
JO - Respiratory Medicine
JF - Respiratory Medicine
ER -