Read how Wolfram syndrome highlights key challenges in rare disease trial design, from small studies to patient-centered outcomes. Wolfram syndrome is a rare genetic disease that often starts in childhood. It typically begins with diabetes and vision loss caused by optic nerve damage. As the condition progresses, people may also develop hearing loss, bladder dysfunction, hormone imbalances and serious brain and nerve complications. Currently, there are no approved treatments to slow or stop the disease. This makes early diagnosis, specialized care and clinical research vital. Urano, Principal Investigator of the HELIOS trial and Samuel E. Schechter Professor of Medicine in the Division of Endocrinology, Metabolism & Lipid Research at WashU Medicine, discussed what clinical researchers should understand about Wolfram syndrome, small open-label studies and the design considerations facing rare disease trials. Fumihiko Urano, MD, PhD, has studied Wolfram syndrome for more than two decades, including the cellular stress pathways that help explain why insulin-producing beta cells and certain nerve cells are especially vulnerable in the disease. He also led the HELIOS Phase II trial, which evaluated an investigational treatment candidate for its potential use to address cellular stress pathways involved in Wolfram syndrome. Dr. Fumihiko Urano, MD, PhD Samuel E. Schechter Professor of Medicine Division of Endocrinology, Metabolism & Lipid Research WashU Medicine · In an exclusive Xtalks Clinical Edge interview, Dr. Natural history data help researchers understand how the disease progresses without treatment. “For many rare genetic diseases, we simply lack good quantitative data on how fast each feature declines,” said Dr.

Original title: “Clinical Trial Design in Wolfram Syndrome: Lessons from HELIOS and Rare Disease Research - Xtalks”