Old Sleeping Sickness Drug Helps Ultra-Rare Disease Patients

A Michigan family received devastating news when their child was diagnosed with Bachmann-Bupp syndrome, a genetic disease so rare that only about 20 people worldwide have it. Then came something almost unheard of: a possible treatment, discovered in just 16 months.

Dr. Caleb Bupp at Corewell Health connected the child's symptoms to the broken gene causing the disorder. By understanding exactly where the damage was happening, he realized an old drug called eflornithine might help.

Eflornithine has been around for decades, originally treating West African sleeping sickness. The medicine works by blocking an overactive enzyme that, in Bachmann-Bupp syndrome patients, runs far too hard because of a genetic mutation.

Five patients have now received the drug through special FDA approval. Families are reporting changes they can see: steadier muscle tone, new developmental milestones, and hair growth in their loved ones.

"They are opening doors that we never would have been able to crack open," said Dr. Bupp, referring to the partnership with Every Cure, a nonprofit that finds new uses for approved drugs.

The drug's history gives doctors a major advantage. They already know safe doses for children, understand the side effects, and have years of safety data. The FDA even approved it for childhood neuroblastoma in 2023, proving it works in kids who need long-term treatment.

The Bright Side

Rarity itself is both the challenge and the opportunity here. With only 20 diagnosed patients worldwide, traditional large clinical trials are impossible. But every single patient who tries the treatment adds crucial evidence.

Scientists at Michigan State University are now working to answer the harder questions: which patients benefit most, when treatment should start, and what signs indicate lasting change. Not every child with the genetic mutation may respond, since the drug targets a specific kind of enzyme overactivity.

The research matters beyond this one disease. The same chemical pathway affects cell growth and division in many conditions, so understanding how to fix it in Bachmann-Bupp syndrome could help researchers tackle related disorders affecting movement, growth, and brain development.

For rare disease families, speed matters enormously. Nearly one in ten Americans has a rare disease, yet only five percent of rare diseases have approved treatments. Going from diagnosis to treatment in 16 months is nearly miraculous in that world.

The next phase requires patience and precision to prove who benefits and why, but families already have something they didn't have before: real hope backed by visible change.