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This search function provides links to outputs produced by NIHR Innovation Observatory. These are briefing notes or reports on new or repurposed technologies. This search will not return all technologies currently in development as these outputs are produced as required for our stakeholders.

Innovation Observatory > Reports > Drugs > Tezacaftor/ivacaftor (fixed-dose combination) for cystic fibrosis heterozygous for F508del mutation and one residual mutation in patients aged 6 to 11 years

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Tezacaftor/ivacaftor (fixed-dose combination) for cystic fibrosis heterozygous for F508del mutation and one residual mutation in patients aged 6 to 11 years

Drugs

Cardiovascular Disease and Vascular Surgery

March 2019


The fixed-dose combination (FDC) tezacaftor/ivacaftor-FDC is in clinical development for cystic fibrosis (CF) that is heterozygous for F508del mutation and a residual mutation for patients aged 6 to 11 years. CF is a life-limiting inherited disease that affects about 10,000 people in the UK. Genetic mutations affect the CF transmembrane conductance regulator (CFTR) gene, which is essential for the regulation of salt and water movements across cell membranes. These mutations mean that the CFTR protein is not processed and moved through the cells normally, resulting in little to no CFTR protein at the cell surface. 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 therapy of tezacaftor/ivacaftor-FDC (Symkevi®) has been approved in the EU for patients aged 12 years and older with CF that have one of these gene mutations. If approved, this licence extension would mean that patients with these gene mutations could have access to this treatment regimen at an earlier age.

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