A medication that has sat on pharmacy shelves for decades, primarily used to treat a parasitic sleeping sickness in Africa, is now showing unexpected promise against one of medicine's rarest genetic diseases. Researchers are moving fast to develop Bachmann-Bupp syndrome as a treatment pathway using difluoromethylornithine, commonly called DFMO.
The condition, known as BABS, strikes only about 20 people worldwide. It stems from mutations in the ODC1 gene that trigger severe developmental delays, muscle weakness, and hair loss in children. Until now, there was no targeted treatment.
Doctors at Corewell Health and Michigan State University began administering DFMO to BABS patients under an FDA-approved protocol for individual cases. Six children have received the drug so far, and early results show measurable symptom improvement. The breakthrough came almost by accident when pediatric geneticist Caleb Bupp connected with MSU professor André Bachmann, who had spent three decades studying DFMO's effects on cellular pathways.
DFMO works by blocking the ODC protein, which becomes overactive when the gene mutates. By suppressing that excess activity, the drug appears to slow or reverse the cascade of problems that define BABS. The mechanism is straightforward, which is why researchers are optimistic about scaling up treatment.
But moving from six patients to a formal clinical trial has stalled. Extreme rarity cuts both ways. It makes the need urgent but the logistics brutal. Identifying enough patients for a statistically meaningful study is nearly impossible. Regulatory pathways for ultra-rare diseases remain murky, and designing a trial that answers meaningful questions requires expertise most hospitals lack.
"For the past year, we've been at a standstill," Bupp said recently. The FDA encouraged the research team to proceed but stopped short of providing a clear roadmap through the regulatory maze.
Enter Every Cure, a nonprofit biotech group focused on rescuing existing drugs for new diseases. The organization partnered with Corewell Health and MSU to remove the obstacles slowing progress. Their mission is to strengthen the scientific foundation with preclinical studies, alert physicians and rare disease networks about BABS and DFMO, and create systems to identify undiagnosed patients before they slip through the cracks.
"We are opening doors that we never would have been able to crack open," Bupp said of Every Cure's regulatory and logistical support. A preclinical study is scheduled to begin next year, which researchers hope will generate the data needed to convince regulators that a full trial is warranted.
The case of DFMO and BABS exemplifies a growing trend in medicine. Thousands of older drugs sit forgotten in pharmaceutical archives, each potentially useful for conditions their original developers never imagined. Most never get a second look because the financial incentive is too thin. DFMO is not patented, so no company stands to profit massively from rebranding it. That's exactly why nonprofits like Every Cure exist: to pursue treatments that market forces ignore.
Author Jessica Williams: "This is what happens when curiosity and persistence collide with institutional support, and it shows just how many children we might help if we bothered to look at old medicines with fresh eyes."
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