November 15, 2019
The FDA recently approved a breakthrough drug for people with cystic fibrosis called Trikafta™. Trikafta therapy is dramatically improving lung function in patients with the genetic disease. As 1 of 115 sites that participated in a clinical trial that led to FDA-approval, the University of Kansas Medical Center is among the nation's first providers of Trikafta.
Cystic fibrosis affects approximately 30,000 people in the U.S. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR). To have cystic fibrosis, you must inherit a damaged copy of the CFTR gene from both parents. The protein produced by the CFTR gene regulates the flow of salt and water in and out of cells, including the lungs and digestive system. When the CFTR gene is damaged, the CFTR protein cannot function properly or isn't produced.
Trikafta is the latest in a series of new therapies called CFTR modulators that address the cause of cystic fibrosis. It consists of 3 modulators that help fix defective CFTR protein. Trikafta has been approved for cystic fibrosis patients, ages 12 years and older, who have at least 1 copy of the F508del mutation. Trikafta has the potential to be significantly effective for up to 90% of people with CF in the US.
The new CF treatment has shown dramatic improvements in lung function and overall nutritional status. People who participated in the 24-week clinical trial reported an unprecedented significant increase in their quality of life with CF.
If you or someone you know has cystic fibrosis and would like to learn more about Trikafta therapy, make an appointment with one of our cystic fibrosis specialists at The University of Kansas Health System.
Steven Stites: We've talked a lot about precision medicine and about drugs that can go in and reverse basic defects of genetic diseases. Hello, we're here. This is the story.
Narrator: The FDA just fast tracked the approval of a breakthrough drug for cystic fibrosis patients and it's a game changer.
Steven Stites: They have to plan for what it's like to be old and to say that to a patient who when they were born would have been thought they were going to die when they are 18, or 19, or 20, is just like the greatest thing ever.
Narrator: Patients like Sarah Carollo.
Sarah Carollo: Before starting the drug, the summer when I was asked to participate, I was considering quitting my job because my health was declining.
Narrator: The University of Kansas Medical Center was chosen as one of the academic medical centers around the world to participate in the 24 week trial study.
Deepika Polineni: This is really incredible because the studies that were done allow the therapy to be approved for people even if they only have one copy of the Delta F508 mutation. That means that eventually this treatment will be able to reach approximately 90% of people with cystic fibrosis.
Sarah Carollo: Before starting this clinical trial, my quality of life was definitely declining pretty quickly.
Narrator: Now Sarah is doing things she's never done before.
Sarah Carollo: I now had the opportunity to do something with my health and my life, and so what better way to do that than to sign up for a 5K?
Deepika Polineni: Typically, we're looking for an improvement of 4 on the quality of life questionnaire and in this case people with CF reported that they had a score improvement of 20, so 5 times the minimum of what we're typically looking to see.
Narrator: It's all good news for about 27,000 CF patients in the US, but what about the other 10%?
Steven Stites: We won't stop until it's done, so we've got work to do and we've got more people to treat.
Sarah Carollo: I can go out at night, I don't get tired easily. Just an overall quality of life increase that is just remarkable.
Steven Stites: Every day is a great day to be in medicine, and some days you remember why you're alive. This is one of those moments.