‘Breakthrough’ cystic fibrosis drug that could treat 90 percent of patients gets FDA approval

The U.S. Food and Drug Administration approved a cystic fibrosis medication that is the first triple-combination therapy available to treat patients 12 and older who have the most common cystic fibrosis mutation, and medical professionals say it has the potential to treat up to 90 percent of all cystic fibrosis patients.

The new drug, Trikafta, which is manufactured by Vertex Pharmaceuticals, was found to cause significant improvements in several cystic fibrosis (CF) outcomes, such as a decrease in respiratory symptoms and reduced rate of pulmonary exacerbations.

More than 30,000 people in the U.S. are living with CF, according to the Cystic Fibrosis Foundation, with an estimated 1,000 new cases being diagnosed each year.

While a CF diagnosis 70 years ago almost certainly spelled out a death sentence in early childhood, recent medical advancements have allowed some CF patients to live very full, long lives.

But many patients’ lives are still cut short by the disease, and Trikafta has the potential to change that.

“Today marks a milestone for CF patients, their families and Vertex. After a 20-year journey together, we have received FDA approval of Trikafta: a single breakthrough medicine with the potential to treat up to 90% of all people with CF in the future,” said Jeffrey Leiden, MD, Ph.D., Vertex’s president and CEO.

“For approximately 6,000 people with CF in the U.S., Trikafta is the first medicine that can treat the underlying cause of their disease,” Leiden added.

Two clinical trials were performed to test the efficacy of Trikafta, involving a total of 510 cystic fibrosis patients. The first trial showed improved lung function compared with a different CF drug. The second trial also showed improved lung function, as well as increased sweat production and improvements in Body Mass Index (BMI) compared to a placebo.

The approval process was fast-tracked by four FDA programs that are committed to pushing out novel treatment options for diseases or illnesses with unmet patient needs, especially in the case of diseases affecting children.

“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. That’s why we used all available programs... to help advance today’s approval,” explained FDA Commissioner Ned Sharpless, M.D.

Cystic fibrosis is a rare, progressive and life-threatening disease which causes thick mucus to build up throughout the body, such as in the lungs and digestive tract, which results in severe respiratory and digestive problems. In the lungs, the mucus is an ideal breeding ground for bacteria, which can easily get caught in the thick mucus and lead to infections, inflammation, respiratory failure and other complications.

The disease is caused by a defective protein that results from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. There are approximately 2,000 mutations of the CFTR gene which can cause cystic fibrosis, but one mutation — the F508del mutation — is responsible for about 90 percent of the cystic fibrosis population.

Other CF drugs act as either correctors, which increase the amount of CFTR functional protein by “correcting” the F508del mutation, or potentiators, which increase the functional ability of CFTR in a cell. Some drugs are potentiator-corrector combinations.

Trikafta is the first triple combination treatment and function as a CFTR modulator, helping the defective CFTR protein to work more effectively.

It will be the first disease-modifying treatment for an estimated 6,000 CF patients in the U.S. who are over the age of 12 and have at least one F508del mutation.

“Today’s approval is a historic moment in cystic fibrosis care," said Steven Rowe, M.D., Director, Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham.

The drug doesn’t come without its risks, and the FDA urges any cystic fibrosis patients to have tests performed to determine which gene mutations they have and to talk to medical professionals about potential side effects before trying Trikafta.