CHMP recommends approval of Orkambi (lumacaftor/ivacaftor) to treat cystic fibrosis patients with two copies of the F508del mutation- Vertex

Vertex Pharmaceuticals Incorporated announced that the European Union Committee for Medicinal Products for Human Use (CHMP) issued a positive Opinion recommending Marketing Authorization of Orkambi (lumacaftor/ivacaftor), the first medicine to treat the underlying cause of cystic fibrosis (CF) in people ages 12 and older with two copies of the F508del mutation. In Europe approximately 12,000 people with CF ages 12 and older have two copies of this mutation.

Cystic fibrosis is caused by a defective or missing CFTR protein resulting from mutations in the CFTR gene. Children must inherit two defective CFTR genes — one from each parent — to have CF. There are approximately 2,000 known mutations in the CFTR gene. Some of these mutations, which can be determined by a genetic, or genotyping test, lead to CF by creating non-working or too few CFTR protein at the cell surface. The defective function or absence of CFTR proteins in people with CF results in poor flow of salt and water into and out of the cell in a number of organs. In the lungs, this leads to the build of abnormally thick, sticky mucus that can cause chronic lung infections and progressive lung damage in many patients that that eventually leads to death. Today, the median predicted age of survival for a person with CF is between 34 and 47 years, but the median age of death remains in the mid-20s.