For which mutation is lumacaftor-ivacaftor FDA approved?

Lumacaftor-ivacaftor is specifically FDA approved for the treatment of cystic fibrosis in patients who are homozygous for the F508del mutation in the CFTR gene. The F508del mutation is the most common mutation associated with cystic fibrosis, leading to misfolding of the CFTR protein, which results in its improper function and reduced chloride transport across epithelial cells.

Lumacaftor acts as a corrector that helps the misfolded protein to properly reach the cell surface, while ivacaftor is a potentiator that enhances the function of the CFTR protein once it reaches the cell surface. By combining these two mechanisms, lumacaftor-ivacaftor effectively addresses the underlying cause of cystic fibrosis in patients with two copies of the F508del mutation, improving lung function and reducing pulmonary exacerbations.

The other mutations listed, such as heterozygous R117H, homozygous G551D, and heterozygous F508del, do not have the same FDA approval for treatment with lumacaftor-ivacaftor, as this combination therapy is specifically targeted for those with the homozygous F508del mutation, showcasing its unique therapeutic application in managing