MSU, Spectrum partnership strengthens cystic fibrosis research

Dr. Reda Girgis. Courtesy Spectrum Health

A team of Michigan State University College of Human Medicine physicians partnered with a group from Spectrum Health to advance studies into a potential cystic fibrosis treatment.

Dr. Xiapeng Li, an associate professor at MSU College of Human Medicine, was awarded a four-year, $2.1 million National Institutes of Health (NIH) grant to further explore potential gene therapies for cystic fibrosis (CF), expanding the college’s CF research partnership with Spectrum Health.

Li’s team on the project includes MSU College of Human Medicine researchers Dr. Jeremy Prokop, Dr. Christopher Waters and pulmonologist Dr. Ryan Thomas. Three pulmonologists from Spectrum Health and Helen DeVos Children’s Hospital Cystic Fibrosis Center, Dr. Susan Millard, Dr. John Schuen and co-investigator Dr. Reda Girgis, will join Li in his studies, with Girgis leading the team for Spectrum Health.

Li said the study is critical for this research and believes it has the potential to unlock new treatment methods for the disease.

Li’s past studies have looked into the cellular and infection mechanisms of CF, and the grant will allow for further research into the cystic fibrosis transmembrane regulator (CFTR) gene, which is responsible for the disease. Specifically, his studies will look into how CFTR gene mutations in small lung airways of CF patients lead to life-threatening infections.

“One reason we got the grant is we have a lot of data to show this is a feasible approach to treating the disease,” Li said.

Li said the significance of small airways was not thoroughly researched up to this point, but previous studies showed CS patients are unable to secrete bicarbonate, which helps maintain critical pH balance on cell surface area. Due to this imbalance, CS patients often develop a thick mucus obstruction in small lung airways, which can lead to bacterial infections potentially causing respiratory failure and death. The team plans to hone its studies into the possibility of replacing the defective gene with a normal gene and to understand why these small airways are susceptible to infection.

“For years, CF patients have had to spend hours doing nebulized medicines and airway clearance, in addition to other medications,” Millard said. “The newest CFTR modulators are one big step closer to improved health but are not available for all patients because of the variety of mutations present in the CFTR gene. Therefore, we have patients who need better options.”

More than 30,000 people in the U.S. and 70,000 people worldwide suffer from CF. The disease is typically diagnosed in infancy, and although a cure has yet to be discovered, current therapies treat symptoms and underlying causes, extending life expectancy to mid-40s. According to Cystic Fibrosis News Today, life expectancy prior to these therapies was 10 years.

“There have been multiple attempts to replace the gene or do gene therapy to correct the disease, which have not proven successful,” Girgis said. “It is hoped that this research can lead to a treatment that will prevent long-term lung disease.”