Lumacaftor and ivacaftor, a combination of cystic fibrosis drugs were found to be safe and effective in children of 2-5 years, two copies of F508del-CFTR gene mutation cause the most common and severe form of the disease. Earlier, the drug combination was approved for treatment in 6 years and older patients. However, the treatment with the drugs for two years and older administered as per the recently extended approval of Food and Drug Administration.
"With earlier treatment that targets the genetic cause of cystic fibrosis we hope to arrest disease progression and substantially improve long-term outcomes," says study author Susanna A. McColley, MD, from Stanley Manne Children's Research Institute at Lurie Children's and Professor of Pediatrics at Northwestern University Feinberg School of Medicine. "In this study, we also saw evidence of improved pancreatic function, which suggests that we might be able to reverse damage to the pancreas from cystic fibrosis."
Cystic fibrosis is a progressive genetic disease that damages multiple organs, including the lungs and pancreas, with average predicted survival of 47 years. It is caused by mutations in the CFTR gene that lead to insufficient flow of salt and water in and out of cells. In the lungs, this creates buildup of thick, sticky mucus that can result in chronic lung infections and severe lung disease. Damage to the pancreas occurs even before birth, which interferes with nutrition absorption and growth.
In addition to efficacy, the study also confirmed that lumacaftor/ivacaftor is well tolerated in the younger population. No new safety concerns were identified.
Dr. McColley is now leading an open label Phase 3 trial of this drug combination for children 1-2 years of age.