Finding a Ready Treatment for a Newly Discovered, Ultra-Rare Disease

When a toddler with a neurodevelopmental delay, poor muscle tone, and no hair came to Caleb Bupp’s genetics clinic, it led not only to the discovery of a new, ultra-rare disease, but the identification of a potential treatment in DFMO, a drug long used to treat a chronic parasitic disease. Bupp is now collaborating with others including Every Cure, a nonprofit biotech working to expand the use of repurposed drugs. While a number of patients have begun using the drug, the U.S. Food and Drug Administration has urged the group to move forward with a clinical trial. We spoke to Bupp, pediatric geneticist at Corewell Health Helen DeVos Children’s Hospital in Grand Rapids, Michigan, about the discovery of the condition known as Bachmann-Bupp syndrome, how he and his colleagues identified a potential treatment in an existing drug, and the path forward.