UNLOCKING HOPE: THE PROMISE OF IVACAFTOR, LUMACAFTOR, THEIR COMBINATION IN CYSTIC FIBROSIS TREATMENT AND GENE THERAPY

Cystic fibrosis (CF) is an inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body. A protein that controls the flow of salt into and out of cells are altered in cystic fibrosis due to a flaw (mutation) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. As a result, sweat becomes more salted and the respiratory, digestive, and reproductive systems produce thick, sticky mucus. A novel medicinal drug called ivacaftor modifies the function of the CFTR channel. For patients who are homozygous for the F508del mutation in the CFTR gene, lumacaftor is a protein chaperone that is used in conjunction with ivacaftor to treat cystic fibrosis. Lumacaftor-ivacaftor is indicated for treatment of CF in patients homozygous for the Phe-508del CFTR gene mutations. Without the treatment and perfect knowledge on the disease leads to death of the patient on suffering with CF. A significant step in the development of CF gene therapy was the cloning of the CFTR gene. This review mainly describes about the cystic fibrosis and its treatment ways and procedures. The drugs like ivacaftor, lumacaftor, different combinations of drugs and also discussed about the gene therapy and agents of gene therapy for cystic fibrosis.

Key words: Cystic fibrosis, ivacaftor, lumacaftor, gene therapy.