Tezacaftor and ivacaftor for cystic fibrosis homozygous or heterozygous for F508del mutation in patients aged 12 years and older who discontinued treatment with Orkambi

The fixed-dose combination (FDC) tezacaftor/ivacaftor-FDC has received approval for patients with cystic fibrosis (CF) aged 12 years and older who are homozygous for the F508del mutation or who are heterozygous for the F508del mutation and one of a number of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF is a life-limiting inherited disease that affects about 10,000 people in the UK. Genetic mutations affect the CFTR gene, which is essential for the regulation of salt and water movements across cell membranes. This results in thickened secretions in organs with epithelial cell lining, mainly affecting the lungs and digestive system.
Tezacaftor is designed to increase the amount of mature protein at the cell surface by targeting the processing and trafficking defect of the F508del CFTR protein. Ivacaftor is designed to enhance the function of the CFTR protein once it reaches the cell surface. The combination of tezacaftor and ivacaftor may result in an effective treatment for people with CF and may especially be a treatment option for those who cannot take a combination of ivacaftor and lumacaftor (another cystic fibrosis medicine), due to side effects or interactions with other medicines they are taking.