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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)225-228
Number of pages4
JournalRespiratory Medicine
Volume131
DOIs
StatePublished - Oct 2017

Keywords

  • Cystic fibrosis
  • Gating mutation
  • Ivacaftor
  • p.Ser549Arg (S549R)

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