Two studies partly funded by NHLBI have shown remarkable results in the treatment of patients with cystic fibrosis who also have at least one copy of the Phe508del CFTR, the most common CF-causing mutation. The findings are significant because this group represents approximately 90% of those affected by this life-shortening disease that affects the lungs and the digestive system.
The studies, published simultaneously in the New England Journal of Medicine and The Lancet, report on the results of two phase 3 clinical trials, conducted by international teams of researchers. The papers show impressive benefits from a triple drug therapy, which alleviates symptoms and attacks the genetic root of the disease.
“These findings indicate that it may soon be possible to offer safe and effective molecularly targeted therapies to 90 percent of persons with cystic fibrosis,” NIH director, Dr. Francis S. Collins, wrote in an accompanying editorial in the New England Journal of Medicine. Collins led the team that, in 1989, identified the gene that causes the disease.