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A new treatment for cystic fibrosis was approved by the FDA. It could help 90 percent of patients

Posted at 12:14 PM, Oct 23, 2019

BALTIMORE — "I was diagnosed at 3 months old so having cystic fibrosis is all I've ever known," said Jeff Breslin, who lives in Baltimore.

Breslin is one of 70,000 people worldwide living with CF, a rare, progressive and life-threatening disease that results in the formation of thick mucus that builds up in the lungs, digestive tract and other parts of the body. It leads to severe respiratory and digestive problems as well as other complications, such as infections and diabetes.

"It really is an invisible illness," he said. "We may be sick at times or there may be times that you can tell something is wrong, but for the most part, it's not something you can see. With that comes an entire battle just to stay healthy and that fight every day for those of us with CF. Sometimes it's an hour, sometimes its four hours of treatments and medicine a lot of those medicines focus on the symptoms versus this new focus on the underlying causes."

There is no cure.

"When I was 12 years old, the life expectancy was 36 and now I sit here at 37 years old and there's no conversation about life expectancy because of drugs like the one that was just announced," Breslin said.

In a huge breakthrough for people with cystic fibrosis, the U.S. Food and Drug Administration has approved the first triple combination therapy available to treat patients with the most common cystic fibrosis mutation. According to the FDA, Trikafta (elexacaftor/ivacaftor/tezacaftor) is approved for patients 12 years and older with cystic fibrosis who have at least one F508del mutation, which is estimated to represent 90% of the cystic fibrosis population. Until now, most of those patients did not have an approved treatment for the underlying cause of CF.

"When you see something tangible, when you see a pill that literally is addressing the underlying reason for the disease instead of just the symptoms, you start to say, 'We really could cure this thing,' " Breslin said.

“Today marks a tremendous breakthrough and exciting news for people with cystic fibrosis,” said Dr. Preston W. Campbell III, president and CEO of the Cystic Fibrosis Foundation. “This milestone is the result of an extraordinary community working together against great odds, and we are overjoyed that this will mean more people will have effective treatments for their disease.”

“At the FDA, we’re consistently looking for ways to help speed the development of new therapies for complex diseases, while maintaining our high standards of review. Today’s landmark approval is a testament to these 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,” said acting FDA Commissioner Dr. Ned Sharpless. “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, including Priority Review, Fast Track, Breakthrough Therapy, and orphan drug designation, to help advance today’s approval in the most efficient manner possible, while also adhering to our high standards. The FDA remains committed to advancing novel treatment options for areas of unmet patient need, particularly for diseases affecting children.”

Cystic fibrosis is caused by a defective protein that results from mutations in the CFTR gene. While there are approximately 2,000 known mutations of the CFTR gene, the most common mutation is the F508del mutation.

Trikafta is a combination of three drugs that target the defective CFTR protein. It helps the protein made by the CFTR gene mutation function more effectively. Therapies currently available that target the defective protein are treatment options for some patients with cystic fibrosis, but many patients have mutations that are ineligible for treatment. Trikafta is the first approved treatment that is effective for cystic fibrosis patients 12 years and older with at least one F508del mutation, or roughly 27,000 people in the United States.

The efficacy of Trikafta in patients with cystic fibrosis 12 years old and older was demonstrated in two trials. People with two copies of the F508del mutation had a 10 percent increase in lung function compared to treatment with the modulator tezacaftor/ivacaftor (Symdeko), and people with one copy of F508del had more than a 14 percent increase in lung function compared to a placebo.

“As we celebrate today, we will not lose sight of the many individuals in our community who are still waiting for a breakthrough that will treat their mutations,” said Dr. Michael P. Boyle, senior vice president of therapeutics development at the Cystic Fibrosis Foundation. “We will not be done until every person with CF has a treatment for the underlying cause of their disease and, one day, a cure.”

"It's really hard not to get emotional about what this is, not just for us, those of us with CF, but there are far too many that never saw this day. So while it's really hopeful and really joyful, there's a lot that never saw this day. There’s also a percentage of those of us with CF that won't eligible for this because we're not there yet for them," Breslin said.

The price tag is also $311,000 and what insurance will cover is a big question, but Breslin said with help from doctors and the Cystic Fibrosis Foundation, he's very hopeful it will soon be helping him.

"I'm pretty sure that myself and the other 90% are going to fight like hell to make sure we can get it," Breslin said.

The drug comes with warnings related to elevated liver function tests, drug interactions with products that are inducers or inhibitors of a certain liver enzym and the risk of cataracts.

Late-stage clinical trials of Trikafta are underway for children with CF ages 6 to 11. Data from that trial is expected in 2020.

This story was originally published by Abby Isaacs on WMAR.