Old Sleeping Sickness Drug Shows Promise for Rare Disorder

When doctors first diagnosed Marley Berthoud with a brand-new genetic disorder in Michigan, they had no treatment options. Now, a forgotten drug once used to fight sleeping sickness is changing that story.

Bachmann-Bupp syndrome affects only about 20 people worldwide. Kids with this ultra-rare condition face serious developmental delays, low muscle tone, and hair loss because of a genetic mutation that causes one enzyme to work overtime.

But researchers at Corewell Health and Michigan State University discovered that DFMO, a drug that's been around for decades, targets exactly that problem. The medication works by dialing down the overactive enzyme, directly addressing what goes wrong in these children's bodies.

Dr. Caleb Bupp, a pediatric geneticist at Helen DeVos Children's Hospital, has already treated six patients through special FDA approval. Early results look promising, with improvements showing up across several symptoms.

The drug has quite a history. Doctors have used DFMO to treat West African sleeping sickness spread by the tsetse fly, reduce unwanted facial hair, and help prevent a childhood cancer from returning. Now it might add another life to its resume.

Dr. André Bachmann, who helped identify the syndrome, has studied this drug for 30 years. He calls his connection with Dr. Bupp a "chance encounter" that opened an unexpected door for these families.

The Bright Side

Progress hasn't been smooth sailing. With only 20 known cases worldwide, building awareness and designing studies has been tough. Regulatory requirements and the complexity of launching trials created a standstill that lasted more than a year.

That's where Every Cure steps in. This nonprofit biotech group specializes in finding new uses for existing drugs, and they're now helping navigate the regulatory maze. They're working to strengthen the scientific evidence, spread awareness among doctors and rare disease organizations, and make sure no child goes undiagnosed.

"They are opening doors that we never would have been able to crack open," Dr. Bupp said. The collaboration means families who might have waited years for answers could see help arrive much sooner.

A preclinical study is set to begin next year. For the handful of families affected by Bachmann-Bupp syndrome, that timeline represents real hope after years of uncertainty.

Sometimes the solutions we need have been sitting on pharmacy shelves all along, just waiting for the right scientists to connect the dots.