Ivacaftor in severe cystic fibrosis lung disease and a G551D mutation

Respirology Case Reports

Michelle E. Wood¹  Daniel J. Smith¹  David W. Reid¹  Philip J. Masel¹  Megan W. France¹ 

[1] Department of Thoracic Medicine, The Prince Charles Hospital, Brisbane, Queensland, Australia

关键词: CFTR;    cystic fibrosis;    G551D mutation;    ivacaftor;   

DOI  :  10.1002/rcr2.27

来源: Wiley

【 摘 要 】

Abstract

Ivacaftor is gene-specific oral therapy for patients with cystic fibrosis who have a cystic fibrosis transmembrane conductance regulator mutation, G551D. To date, limited information is available about the benefit in patients with severe CF related lung disease, as such patients were excluded from the phase III trials. We report the early results on clinical outcomes, sweat electrolytes and C-reactive protein in three adults with a G551D mutation and advanced lung disease. A mean increase of 6% in FEV₁ was observed at 2 weeks and a mean reduction in sweat chloride of −48.9 mmol/L. While improvements in spirometry, weight gain and reduction in sweat electrolytes are similar with those reported in the phase III trials, a formal comparison was not performed.

【 授权许可】

CC BY-NC   
© 2013 The Authors. Respirology Case Reports published by John Wiley & Sons Ltd on behalf of The Asian Pacific Society of Respirology.

Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.