12 November 2021 - - The European Medicines Agency's Committee for Medicinal Products for Human Use adopted a positive opinion for the label extension of Kaftrio (ivacaftor/tezacaftor/elexacaftor) in a combination regimen with ivacaftor, for the treatment of cystic fibrosis in patients ages 6 through 11 years old who have at least one F508del mutation in the cystic fibrosis transmembrane conductance regulator gene, UK-based Vertex Pharmaceuticals Inc. (NASDAQ: VRTX) said.

Cystic fibrosis is a rare, life-shortening genetic disease affecting more than 83,000 people globally. CF is a progressive, multi-organ disease that affects the lungs, liver, pancreas, GI tract, sinuses, sweat glands, and reproductive tract.

CF is caused by a defective and/or missing CFTR protein resulting from certain mutations in the CFTR gene.

Children must inherit two defective CFTR genes, one from each parent, to have CF, and these mutations can be identified by a genetic test.

While there are many different types of CFTR mutations that can cause the disease, the vast majority of people with CF have at least one F508del mutation. 

CFTR mutations lead to CF by causing the CFTR protein to be defective or by leading to a shortage or absence of CFTR protein at the cell surface.

The defective function and/or absence of CFTR protein results in poor flow of salt and water into and out of the cells in a number of organs.

In the lungs, this leads to the buildup of abnormally thick, sticky mucus, chronic lung infections and progressive lung damage that eventually leads to death for many patients.

The median age of death is in the early 30s.

In people with certain types of mutations in the CFTR gene, the CFTR protein is not processed or folded normally within the cell, and this can prevent the CFTR protein from reaching the cell surface and functioning properly.

Kaftrio (ivacaftor/tezacaftor/elexacaftor) in combination with ivacaftor is an oral medicine designed to increase the quantity and function of the CFTR protein at the cell surface.

Elexacaftor and tezacaftor work together to increase the amount of mature protein at the cell surface by binding to different sites on the CFTR protein.

Ivacaftor, which is known as a CFTR potentiator, is designed to facilitate the ability of CFTR proteins to transport salt and water across the cell membrane.

The combined actions of ivacaftor, tezacaftor and elexacaftor help hydrate and clear mucus from the airways.

Kaftrio (ivacaftor/tezacaftor/elexacaftor) in combination with ivacaftor is approved in the European Union for the treatment of cystic fibrosis in patients ages 12 years and older who have at least one copy of the F508del mutation in the CFTR gene.

Vertex is a global biotechnology company that invests in scientific innovation to create transformative medicines for people with serious diseases.

The company has multiple approved medicines that treat the underlying cause of cystic fibrosis, a rare, life-threatening genetic disease, and has several ongoing clinical and research programs in CF.

Beyond CF, Vertex has a robust pipeline of investigational small molecule medicines in other serious diseases where it has deep insight into causal human biology, including pain, alpha-1 antitrypsin deficiency and APOL1-mediated kidney diseases.