Tezacaftor/ivacaftor in people with cystic fibrosis who stopped lumacaftor/ivacaftor due to respiratory adverse events

Cystic fibrosis (CF) —a rare, autosomal recessive, life-shortening disease—affects more than 90,000 people worldwide [1]. CF is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene that lead to decreased quantity and/or defective function of epithelial cell–surface CFTR proteins, resulting in reduced ion transport and dysfunction in numerous organ systems [2,3]. Phe508del is the most prevalent CFTR mutation worldwide; approximately 45% of people with CF (pwCF) in the United States [4] and 38% with CF worldwide are homozygous for the Phe508del-CFTR mutation [5].

Source: Journal of Cystic Fibrosis - June 22, 2020 Category: Respiratory Medicine Authors: Carsten Schwarz, Sivagurunathan Sutharsan, Ralph Epaud, Ross C. Klingsberg, Rainald Fischer, Steven M. Rowe, Paul K. Audhya, Neil Ahluwalia, Xiaojun You, Thomas J. Ferro, Margaret E. Duncan, Bote G. Bruinsma Tags: Original Article Source Type: research