Decades-old sleeping sickness drug shows promise for ultra-rare genetic disorder

A medicine developed to treat African sleeping sickness is getting a second life. Researchers at Michigan State University and Corewell Health have found that difluoromethylornithine—a drug that's been around for decades—may help treat Bachmann-Bupp syndrome, a devastating genetic disorder so rare that only about 20 cases have been identified worldwide.

Bachmann-Bupp syndrome stems from a mutation in the ODC1 gene that causes severe developmental delays, low muscle tone, and hair loss in affected children. The condition has no established treatment. What makes this discovery striking is that the drug they're testing, known as DFMO or eflornithine, was never designed for this purpose. It was originally created to combat West African sleeping sickness, and later repurposed to reduce facial hair growth and prevent neuroblastoma recurrence in children.

Dr. André Bachmann, a pediatrics professor at Michigan State, has studied DFMO and its effects on the ODC1 gene for three decades. When he and Dr. Bupp—who together first identified the syndrome in a patient—connected their work, they realized the drug's mechanism might address the root cause of BABS. The protein that DFMO inhibits is overactive in patients with this mutation, and early results from five children treated so far have shown meaningful improvement in their symptoms.

Getting from Promise to Treatment

Here's where the story gets complicated. The FDA has encouraged the research team to launch a formal clinical trial, but they've hit a wall. Regulatory requirements, the challenge of designing appropriate studies for such a rare condition, and the practical difficulty of raising awareness about a disease most doctors have never heard of have stalled progress. "For the past year, we've been at a standstill," Dr. Bupp said.

That's where Every Cure enters. The nonprofit organization specializes in finding new uses for existing drugs—exactly what's needed here. They're now working alongside Michigan State and Corewell Health to strengthen the evidence for DFMO as a BABS treatment, increase physician awareness, and ensure that the handful of children living with this condition actually get diagnosed and treated.

David Fajgenbaum, Every Cure's co-founder, frames their role plainly: "Our job is to help bridge this gap." The team expects preclinical studies to launch next year, building on the foundation that Bachmann, Bupp, and their colleagues have already laid.

What's remarkable here isn't just that an old drug might work for a new disease—that happens occasionally in medicine. It's that five children have already benefited while the formal machinery of clinical trials grinds slowly forward. The next phase will determine whether those early results hold up and whether DFMO can become the first real treatment option for families facing this diagnosis.