A pair of new studies report “impressive” benefits from a drug therapy for cystic fibrosis, a deadly and devastating disease that affects tens of thousands of people worldwide, the director of the National Institutes of Health wrote in an editorial published in The New England Journal of Medicine on Thursday.
“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,” wrote the director, Dr. Francis S. Collins, who led the team that in 1989 identified the gene that causes the genetic disease affecting the lungs and digestive system.
“This should be a cause for major celebration,” he wrote in the Thursday editorial.
The two studies, published by The New England Journal of Medicine and The Lancet, describe the results of clinical trials of a three-drug therapy for people with cystic fibrosis, which causes thick mucus to build up in the lungs and other parts of the body and drastically shortens life expectancy. Both studies found that, among other things, patients who received the therapy showed improvement in a key measure of lung capacity, findings that Dr. Collins described in a separate N.I.H. blog post as “striking.”
The studies were conducted with funding from Vertex Pharmaceuticals, which developed the triple-combination drug therapy, known as Trikafta. Last week, the Food and Drug Administration approved Trikafta for use with about 90 percent of patients with cystic fibrosis — those who have the most common cystic fibrosis gene mutation and are 12 or older.
The drug will cost about $311,000 per year, the same as Vertex’s previous cystic fibrosis drug, Kalydeco, a spokeswoman said, adding that the company also runs patient-assistance programs.
Vertex has been criticized in the past for the price it charges for its cystic fibrosis drugs. In a 2018 report, the Institute for Clinical and Economic Review, which evaluates the cost-effectiveness of drugs, found that the cystic fibrosis drugs the company sells should cost as much as 77 percent less. Drawing on that report, a state board in New York last year ruled that one of those drugs was overpriced and should be discounted by about 70 percent.
Despite the results published on Thursday, Dr. Collins tempered his enthusiasm in the New England Journal of Medicine editorial, writing that researchers must not forget about the 10 percent of patients who would not benefit from the drug therapy.
“The ‘best day ever’ for all of us traveling down this long road together will be the day when the more than 70,000 persons with cystic fibrosis worldwide do not need to take drug therapy at all and there finally is a permanent cure for cystic fibrosis that works for everyone,” he wrote.
