Adi Dagan1, Malena Cohen-Cymberknoh2, Michal Shteinberg3, Hagit Levine4, Daphna Vilozni5, Yael Bezalel5, Bat-El Bar Aluma5, Ifat Sarouk5, Moshe Ashkenazi5, Moran Lavie5, Reuven Tsabari2, Hannah Blau4, Eitan Kerem2, Lea Bentur6, Ori Efrati5, Galit Livnat3. 1. Pediatric Pulmonary Unit and the National Center for Cystic Fibrosis, Edmond and Lili Safra Children's Hospital, Chaim Sheba Medical Center at Tel Hashomer, Affiliated with Sackler Medical School, Tel Aviv University, Israel. Electronic address: adi.dagan@sheba.health.gov.il. 2. Cystic Fibrosis Center, Hebrew University Hadassah Medical Center, Jerusalem, Israel. 3. Cystic Fibrosis Center, Carmel Hospital, Ruth and Bruce Rappaport Faculty of Medicine, Technion - Institute of Technology, Haifa, Israel. 4. Graub Cystic Fibrosis Center, Schneider Children's Medical Center, Petach Tikva, Affiliated with Sackler Faculty of Medicine, Tel Aviv University, Israel. 5. Pediatric Pulmonary Unit and the National Center for Cystic Fibrosis, Edmond and Lili Safra Children's Hospital, Chaim Sheba Medical Center at Tel Hashomer, Affiliated with Sackler Medical School, Tel Aviv University, Israel. 6. Cystic Fibrosis Center, Rambam Health Care Campus, Haifa, Israel.
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.
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 CFpatients receiving ivacaftor for one year. RESULTS: Eight CFpatients, 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.
Authors: Sumaya Al Oraimi; Hussain Mohsin; Zainab Al Musawi; Younis Al Balushi; Khoula Al Shidhani; Qasem Al Salmi Journal: Int J Pediatr Adolesc Med Date: 2021-11-29
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