Lumacaftor/ivacaftor reduces exacerbations in adults homozygous for Phe508del mutation with severe lung disease

Cystic Fibrosis (CF) is a genetic disorder caused by mutations in the gene that encodes for the Cystic Fibrosis Transmembrane Regulator (CFTR) protein, an epithelial ion channel that is crucial in regulating the flow of negatively charged ions across membranes and ensuring adequate hydration of mucus [1]. As a consequence, dysfunction results in a multisystem disorder that seriously impacts upon on the lungs, eventually leading to death or the need for lung transplantation. Lumacaftor/ivacaftor (LUM/IVA) is a combination agent that targets CFTR.

Source: Journal of Cystic Fibrosis - December 14, 2019 Category: Respiratory Medicine Authors: Koliarne Tong, Daniel Barker, Megan France, Lucy Burr, Hugh Greville, Simone Visser, Peter Middleton, Claire Wainwright, Douglas Dorahy, Peter Wark Tags: Original Article Source Type: research