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Research Brief: Cystic Fibrosis Studies Yielding Progress in Central Texas

Nov. 15, 2022

In 1938, the majority of people with cystic fibrosis did not live to see their first birthday. According to the latest Cystic Fibrosis Foundation Patient Registry data, median survival age is now 50 years old, meaning that current cystic fibrosis management deals with issues of adulthood, pregnancy and more. The substantial advances made in cystic fibrosis research to extend survival and quality of life have been made possible by the passion and perseverance of researchers in the field, like that of our team here at Dell Children’s Medical Center and the Department of Pediatrics.  

Jason Fullmer, M.D., directs the cystic fibrosis research program at Dell Children’s alongside clinical research coordinators Sarah Schwartz and Tina Adrean. The cystic fibrosis research program in Austin is supported by a grant from the Therapeutic Development Network — the research arm of the Cystic Fibrosis Foundation — and it is currently participating in several research studies, including work on cystic fibrosis transmembrane conductance regulator modulators (or CFTR modulators, for short).  

CFTR modulators are a class of drug developed to fix the dysfunctional protein channel responsible for causing cystic fibrosis. Our site was involved with early studies that led to the approval of several of these modulators. We are currently in a safety study evaluating the long-term efficacy of Trikafta, which is a relatively new and highly effective modulator that has shown to improve the quality of life among those living with cystic fibrosis. At the adult cystic fibrosis center in Austin, we worked diligently to get patients who qualified on Trikafta through early access programs or research studies.

We’ve seen patients who were hospitalized multiple times a year and had lung function significantly low enough to qualify them for lung transplant evaluation improve to a point where they were able to exit transplant lists. We’ve had patients who had previously not considered starting a family due to health concerns go on and pursue pregnancy. And among them, we’ve had 12 successful pregnancies in the past three years. Additional studies are still needed to learn more about the safety and long-term effects of these medications, including studies to investigate modulators in younger patients, but gains thus far have been rewarding to see.

Connecting Research & Quality of Life

Currently, we are participating in a study as part of a collaboration with National Jewish Health in Colorado that looks at the health care-associated links in the transmission of nontuberculous mycobacteria among patients with cystic fibrosis. Nontuberculous mycobacteria can cause serious pulmonary disease in people with cystic fibrosis and be very difficult to treat. There have been cases of health care-associated outbreaks of nontuberculous mycobacteria in cystic fibrosis patients, and it is important to learn more about how this infection is spread and what can be done to prevent it so that we can continue strategies to improve quality of life while researching treatments.   

We continue to participate in the cystic fibrosis patient registry, tracking every cystic fibrosis participant’s complete medical history. This invaluable tool follows about 50,000 individuals with cystic fibrosis nationwide, and it has been invaluable for epidemiological research. We also use it on a local level for quality improvement and routinely have several ongoing quality projects. As a cystic fibrosis center (adult and pediatric), we presented six of these quality improvement projects either as a poster or oral presentation at this year’s North American Cystic Fibrosis Conference.  

Soon, we’ll be starting a new study sponsored by the Cystic Fibrosis Foundation that looks at home lung function testing using home spirometry (a test that measures the amount of air that can be inhaled or exhaled). As health care evolves and telehealth visits become more popular, it’s important to compare spirometry tests done at home versus those done in the office to see if home tests are just as accurate.

The cystic fibrosis research team is not only committed to increasing awareness about studies offered at the center here in Austin, but also at other cystic fibrosis centers across the U.S. Around 10% of people with cystic fibrosis have rare mutations that may disqualify them for use of a highly effective modulator. It’s vitally important that we do further research with this group of patients and find therapies that can benefit them. Sarah Schwartz has started a systematic process to identify patients who may qualify for studies at other sites. Referring these patients can allow them to have early access to potentially beneficial therapies. Sarah has gone above and beyond, working with outside centers and advocating for our patients to gain access into these studies.   

With the support of the Cystic Fibrosis Foundation and well-coordinated, multicenter research studies organized through the Therapeutic Development Network, outcomes for people with cystic fibrosis have changed dramatically. We hope to continue to play a role in this research moving forward until a definitive cure for cystic fibrosis is found.