Cystic fibrosis is a deadly disease that affects an estimated 30,000 people in the United States. The disease builds over time, impairing lung function — which is why this new therapy is so groundbreaking. The three-drug combination (called Trikafta) is said to target the genetic root of cystic fibrosis rather than simply alleviating the symptoms of the disease.
A breakthrough therapy
According to the U.S. Food and Drug Administration (FDA), Trikafta has been approved for people who are 12 years and older who have the most common cystic fibrosis mutations. This means that the drug could benefit up to 90% of the cystic fibrosis population (or roughly 27,000 people in the United States), which is remarkable in comparison with previous drugs.
“In the past few years, we have seen remarkable breakthroughs in therapies to treat cystic fibrosis and improve patients’ quality of life, yet many subgroups of cystic fibrosis patients did not have approved treatment options,” acting FDA Commissioner Ned Sharpless, M.D. stated in a press release.
“Today’s landmark approval is a testament to [our] efforts, making a novel treatment available to most cystic fibrosis patients, including adolescents, who previously had no options and giving others in the cystic fibrosis community access to an additional effective therapy,”
Francis Collins, director of the National Institutes of Health and member on a 1989 team that discovered the gene defect that causes cystic fibrosis told the Washington Post that she is overjoyed by this news. “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,” said Collins.
A new chapter for cystic fibrosis patients
People who suffer from cystic fibrosis are faced with a rare, progressive disease that causes thick mucus to build up in the lungs, digestive tract, and other internal organs. Along with being life-threatening, the disease complicates an individual’s overall health by causing severe digestive and respiratory problems. Complications include infections and diabetes.
The life expectancy for people with cystic fibrosis used to be the teenage years, but nowadays, patients live on average 44 years. The cause of this disease is a defective protein that results from mutations in the CFTR gene. Trikafta, however, combines three drugs that target the defective protein made by the CFTR gene mutation and helps the protein function more smoothly.
The new drug is so encouraging that doctors may be able to tell patients who often wouldn’t have otherwise even planned to go to college, that they should consider planning for retirement.
Regarding the advancement of therapy to treat a complex disease, Brian P. O’Sullivan, a pediatric pulmonologist at the Geisel School of Medicine at Dartmouth told the Washington Post: “I’m in my 60s now, and I never thought I would see this day. It’s pretty amazing.”