Breakthrough drug combo for cystic fibrosis found

A new three-drug combo for treating cystic fibrosis was found to be effective in treating 90 percent of patients who have the life-threatening disease, according to a recent study.

Called Trikafta, the new three-drug combination is effective even in patients with a single copy of the most common genetic mutation of the disease.

The positive results of an international phase 3 clinical trial led the U.S. Food and Drug Administration to approve Trikafta therapy in October.

The study’s findings were published Oct. 31 in the New England Journal of Medicine.

“This should be a major cause for celebration,” Dr. Francis Collins, director of the U.S. National Institutes of Health, wrote in an editorial accompanying the new study.

Cystic fibrosis (CF) is a progressive genetic disease that causes thick mucus to build up in the lungs, digestive tract and other parts of the body. The result is severe respiratory and digestive problems, as well as additional complications like infections and diabetes.

“Although there are over a thousand different disease-causing mutations, nearly 90% of people with cystic fibrosis have at least one copy of the most common mutation, the Phe508del CFTR allele,” said study corresponding author Dr. Raksha Jain. She’s director of the Adult Cystic Fibrosis Center at University of Texas Southwestern Medical Center in Dallas.

About 80,000 people worldwide have mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein, according to Jain.

Victims inherit a gene from each parent that encodes the CFTR protein.

“This three-drug combination was highly effective in people with cystic fibrosis who inherited the Phe508del CFTR mutation, improving health outcomes and symptoms,” Jain said in a university news release.

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