A Carrboro mother has pulled in close with UNC researchers after watching her 15-year-old son lose basic skills to a devastating genetic disease. Over several years, Cole regressed, losing most of his spoken language by about age eight, and his mother says an investigational therapy in a clinical trial slowed that decline. She is now working directly with a UNC pediatric geneticist who leads trials that aim to deliver enzyme therapy into the brain.
As reported by CBS17, the boy, identified as 15‑year‑old Cole Mausolf of Carrboro, received investigational infusions through a clinical trial that his mother, Kim Stephens, says slowed his rate of decline. Stephens is now the executive director of the Muenzer MPS Research and Treatment Center and has relocated to Chapel Hill to be near care and trials, according to the report.
UNC research aims to reach the brain
The UNC School of Medicine and its Muenzer MPS Research and Treatment Center are testing an intravenous enzyme replacement designed to cross the blood–brain barrier and remove sugar‑waste buildup that damages brain and body cells, according to UNC Health. The center’s director, Dr. Joseph Muenzer, served as lead investigator on the trial of tividenofusp alfa, an experimental treatment developed in collaboration with Denali Therapeutics.
Early trial data show biological impact…