Medical scientists have announced, this week, the discovery of what promises to be a truly breakthrough treatment for people living with cystic fibrosis. According to a report published in the New England Journal of Medicine, the results of the large, US FDA-led international phase 3 clinical trial, a three-drug combination could significantly improve lung function for up to 90 percent of patients with this life-threatening disease.
It is important to note that this study included patients who have a single copy of the most common genetic variant/mutation categorized with this disease. Accordingly, corresponding study author Dr. Raksha Jain comments, “Although there are over a thousand different disease-causing mutations, nearly 90 percent of people with cystic fibrosis have at least one copy of the most common mutation: the Phe508del CFTR allele.”
The remarkable development is the product of several decades of consistent, incremental, scientific work. Named Trikafta, the new drug combines elexacaftor, tezacaftor, and ivacaftor. It is manufactured by Vertex Pharmaceuticals, who markets the list price for the drug at $311,500 per year.
Jain is the director of the University of Texas Southwestern Medical Center Adult Cystic Fibrosis Center. In a university release, the doctor comments, “This three-drug combination was highly effective in people with cystic fibrosis who inherited the Phe508del CFTR mutation, improving health outcomes and symptoms.”
Cystic fibrosis, of course, is a progressive genetic disease categorized by the generation of thick mucus that builds up in the lungs and the digestive tract, among other parts of the body. This abundance of mucus results in a severe respiratory and/or digestive issues, as well as a host of other complications that could include infections and even diabetes.