Breakthrough Triple Therapies for Cystic Fibrosis

Cystic fibrosis (CF), an autosomal recessive disease that affects 80,000 people worldwide, is a multisystem disease that frequently leads to early death from lung disease. The pathophysiology of CF can be attributed to a protein mutation that leads to the defective function of an anion channel in epithelial cells called the cystic fibrosis transmembrane conductance regulator (CFTR). Among CF patients, 90% are either homozygous or heterozygous for the CFTR mutation leading to poor chloride transport.

Two types of CFTR modulators are currently approved and used in combination to treat CF; tezacaftor is a CFTR corrector that moves the mutated CFTR protein to the correct place on the epithelial cell surface membrane, and ivacaftor is a potentiat…