Vertex Pharmaceuticals announced that the European Medicines Agency's (EMA's) Committee for Medicinal Products for Human Use (CHMP) adopted a positive opinion for the label expansion of KALYDECO®? (ivacaftor) for the treatment of infants with cystic fibrosis (CF) ages 1 month to less than 4 months old who have one of the following mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: R117H, G551D, G1244E, G1349D, G178R, G551S, S1251N, S1255P, S549N or S549R. In the European Union, KALYDECO®®?

is already approved for the treatment of people with CF ages 4 months old and above with specific mutations in the CFTR gene. Cystic fibrosis (CF) is a rare, life-shortening genetic disease affecting more than 92,000 people globally. 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 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 normally 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 30s, but with treatment, projected survival is improving. Diagnosis of CF is often made by genetic testing and is confirmed by testing sweat chloride (SwCl), which measures CFTR protein dysfunction.

The diagnostic threshold for CF is SwCl 60 mmol/L, while levels between 30-59 indicate CF is possible and more testing may be needed to make the diagnosis of CF.