Old Drug Brings Hope to 20 Kids with Ultra-Rare Syndrome

Six children with a life-threatening genetic disorder are showing dramatic improvement thanks to a drug that's been sitting on pharmacy shelves for decades.

Bachmann-Bupp syndrome affects only about 20 children worldwide, causing severe developmental delays, muscle weakness, and hair loss. For years, families had no treatment options and little hope.

Then doctors Caleb Bupp and André Bachmann made a connection. Bachmann had spent 30 years studying a drug called DFMO, originally developed to treat sleeping sickness caused by tsetse flies. Bupp was searching desperately for anything to help his young patients with BABS.

The two scientists realized DFMO targets the exact protein causing the syndrome. Under special FDA approval, they treated their first patient.

It worked. Then it worked again in five more children.

"It was a chance encounter that we connected and were able to use DFMO on a patient with promising early results," said Bachmann, a pediatrics professor at Michigan State University.

But progress stalled. The disorder is so rare that launching a proper clinical trial seemed impossible. Regulatory hurdles piled up, and the small team at Corewell Health and MSU didn't have the resources to navigate them alone.

That's when Every Cure stepped in. The nonprofit biotech organization specializes in finding new uses for existing medicines, especially for rare diseases that big pharmaceutical companies overlook.

"They are opening doors that we never would have been able to crack open," said Bupp, a pediatric geneticist at Helen DeVos Children's Hospital. "It's a hopeful and exciting time for all of us and more importantly, our patients."

Why This Inspires

This story shows why rare disease research matters. Twenty children may seem like a small number, but for those families, it's everything.

The partnership between Corewell Health, Michigan State University, and Every Cure also demonstrates a smarter approach to drug development. Instead of spending billions creating new medicines from scratch, they're unlocking treatments hiding in plain sight.

DFMO already has decades of safety data. It's already FDA-approved for other conditions. That means children with BABS could access treatment far faster than with a brand-new drug.

The team hopes to launch a preclinical study next year. For families who've watched their children struggle without options, that timeline represents genuine hope where none existed before.