Ivacaftor for the p.Ser549Arg (S549R) gating mutation – The Israeli experience

Adi Dagan; Malena Cohen-Cymberknoh; Michal Shteinberg; Hagit Levine; Daphna Vilozni; Yael Bezalel; Bat El Bar Aluma; Ifat Sarouk; Moshe Ashkenazi; Moran Lavie; Reuven Tsabari; Hannah Blau; Eitan Kerem; Lea Bentur; Ori Efrati; Galit Livnat

doi:10.1016/j.rmed.2017.08.026

Ivacaftor for the p.Ser549Arg (S549R) gating mutation – The Israeli experience

Adi Dagan^*
, Malena Cohen-Cymberknoh
, Michal Shteinberg
, Hagit Levine
, Daphna Vilozni
, Yael Bezalel
, Bat El Bar Aluma
, Ifat Sarouk
, Moshe Ashkenazi
, Moran Lavie
, Reuven Tsabari
, Hannah Blau
, Eitan Kerem
, Lea Bentur
, Ori Efrati
, Galit Livnat

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

27 Scopus citations

Abstract

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 FEF_25-75, 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.

Original language	English
Pages (from-to)	225-228
Number of pages	4
Journal	Respiratory Medicine
Volume	131
DOIs	https://doi.org/10.1016/j.rmed.2017.08.026
State	Published - Oct 2017
Externally published	Yes

Bibliographical note

Publisher Copyright:
© 2017 Elsevier Ltd

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Cystic fibrosis
Gating mutation
Ivacaftor
p.Ser549Arg (S549R)

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10.1016/j.rmed.2017.08.026

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Dagan, A., Cohen-Cymberknoh, M., Shteinberg, M., Levine, H., Vilozni, D., Bezalel, Y., Bar Aluma, B. E., Sarouk, I., Ashkenazi, M., Lavie, M., Tsabari, R., Blau, H., Kerem, E., Bentur, L., Efrati, O., & Livnat, G. (2017). Ivacaftor for the p.Ser549Arg (S549R) gating mutation – The Israeli experience. Respiratory Medicine, 131, 225-228. https://doi.org/10.1016/j.rmed.2017.08.026

@article{66c47c12fdfb4e6c9e26302f950b0eea,

title = "Ivacaftor for the p.Ser549Arg (S549R) gating mutation – The Israeli experience",

abstract = "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.",

keywords = "Cystic fibrosis, Gating mutation, Ivacaftor, p.Ser549Arg (S549R)",

author = "Adi Dagan and Malena Cohen-Cymberknoh and Michal Shteinberg and Hagit Levine and Daphna Vilozni and Yael Bezalel and \{Bar Aluma\}, \{Bat El\} and Ifat Sarouk and Moshe Ashkenazi and Moran Lavie and Reuven Tsabari and Hannah Blau and Eitan Kerem and Lea Bentur and Ori Efrati and Galit Livnat",

note = "Publisher Copyright: {\textcopyright} 2017 Elsevier Ltd",

year = "2017",

month = oct,

doi = "10.1016/j.rmed.2017.08.026",

language = "אנגלית",

volume = "131",

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Dagan, A, Cohen-Cymberknoh, M, Shteinberg, M, Levine, H, Vilozni, D, Bezalel, Y, Bar Aluma, BE, Sarouk, I, Ashkenazi, M, Lavie, M, Tsabari, R, Blau, H, Kerem, E, Bentur, L, Efrati, O & Livnat, G 2017, 'Ivacaftor for the p.Ser549Arg (S549R) gating mutation – The Israeli experience', Respiratory Medicine, vol. 131, pp. 225-228. https://doi.org/10.1016/j.rmed.2017.08.026

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

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 - https://www.scopus.com/pages/publications/85029088795

U2 - 10.1016/j.rmed.2017.08.026

DO - 10.1016/j.rmed.2017.08.026

M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???

C2 - 28947035

AN - SCOPUS:85029088795

SN - 0954-6111

VL - 131

SP - 225

EP - 228

JO - Respiratory Medicine

JF - Respiratory Medicine

ER -

Ivacaftor for the p.Ser549Arg (S549R) gating mutation – The Israeli experience

Abstract

Bibliographical note

UN SDGs

Keywords

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