A breakthrough therapy for cystic fibrosis goes beyond treating symptoms to improve lung function and target the genetic cause of the disease, according to The Washington Post.
The treatment could benefit up to 90 percent of patients with the disease, which is significantly greater than “previous drugs that worked in a tiny fraction of the people with the disease or had more modest effects.”
Trikafta — a combination of three drugs — was approved last week by the Food and Drug Administration, five months ahead of schedule due to the highly persuasive clinical results.
National Institutes of Health Director Francis Collins, who participated in the 1989 discovery of the gene defect that causes cystic fibrosis, was thrilled to see such a breakthrough finally take place.
“I’m overjoyed,” Collins said. “Thirty years along, with many bumps along the road and so many people waiting and hoping that something like this would happen — and here we are.”
Boston-based Vertex Pharmaceuticals developed the therapy, its fourth for treating cystic fibrosis.
About 300,000 people in the U.S. suffer from the disease, in which “thick mucus builds up in the body’s organs, damaging people’s lungs and digestive systems.” Patients spend hours a day coughing to clear their lungs, assisted by vibrating vests that help loosen the buildup.
Cystic fibrosis is caused by gene mutations that lead to a particular protein’s malfunction, scientists have discovered. The protein is responsible for maintaining the appropriate balance of salt and water in the lungs.
“There are more than 1,700 gene mutations that can cause the protein to malfunction, but in the most common mutation, the protein is misfolded and can’t reach the right spot in the cell — and even if it does reach that spot, it doesn’t work properly,” The Post explained. “The new combination therapy includes one drug that corrects the misfolded protein and two that activate the correctly folded protein when it reaches the right spot in the cell.”
Those who participated in Trikafta trials continued using their vests and daily coughing, but scientists believe it could one day be possible that such measures are no longer necessary.
At present, the drug is only approved for patients over the age of 12, but it is hoped to eventually gain approval for use in younger children. The disease causes scarring in the lungs that cannot be reversed, eventually leading to death. Currently, the life expectancy for a cystic fibrosis patient is 44 years, The Post reported. Scientists hope that eventually, with treatment beginning in early childhood, patients will live a full life well into retirement.