The work of two faculty members at the University at Buffalo (UB), Jacob School of Medicine and Biomedical Sciences — Danielle M. Goetz, MD, and Carla A. Frederick, MD — were instrumental in the research that led to the approval of Symdeko (tezacaftor/ivacaftor and ivacaftor) for the treatment of cystic fibrosis (CF).
CF is a genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The defect causes thick and sticky mucus to accumulate in the lungs, pancreas, and other organs, leading to difficulty breathing and an increased risk of infection.
Symdeko is for cystic fibrosis patients, ages 12 years and older, with two copies of the F508del mutation in the CFTR gene (the most common CF-causing mutation) or with one mutation that responds to tezacaftor/ivacaftor.
In Phase 3 clinical trials, Symdeko improved lung function by 4 percent in CF patients with two copies of F508del mutation compared to a placebo, and by 6.8 percent in patients with any one of the 26 mutations responsive to the drug combination.
Treatment with Symdeko also lowered the occurrence of disease exacerbations (sudden worsening of symptoms) by 35 percent, improving the patients’ quality of life.
Both Goetz and Frederick were involved in the clinical trials that contributed to the approval of Symdeko. Goetz is a pediatric center director, and Frederick is an adult center director, of the Cystic Fibrosis Center of Western New York.
“Because the disease spans the transition from pediatric to adulthood, it’s good to have directors in both realms,” Frederick said in a press release, referring to her involvement with Goetz in these studies.
Acknowledging the importance of Symdeko, Goetz said: “It means hope. There are a lot of new therapies now available. The goal is that there will be correctors for 93 percent of CF patients in the next five years and 100 percent in the next 10 years.”
“This trial covered individuals who have a combination of two mutations, and about 60 percent of individuals with CF will have access to this medication to improve their lung functions, decrease exacerbations and likely lengthen their lives,” Frederick added.
Phase 3 clinical trials with a combination treatment using three different drugs including tezacaftor and ivacaftor will begin in the near future.
“Every positive trial builds momentum toward other promising new therapies. That’s really what we saw with this trial,” Frederick said. “It’s an important stepping stone to therapies that are going to be available for most individuals with CF in the near future.”