Repurposed Sleeping Sickness Drug Shows Lifesaving Potential for Ultra-Rare Genetic Disorder

Breaking News: Decades-Old Drug Targets Genetic Root of Devastating Disease

A long-forgotten medication, once used to treat African sleeping sickness, is emerging as an unexpected lifeline for children suffering from Bachmann-Bupp syndrome (BABS)—an ultra-rare, life-threatening genetic disorder. Early patient outcomes indicate that the drug, known as DFMO (eflornithine), may alleviate severe symptoms by directly addressing the underlying genetic defect.

Researchers have treated only a handful of patients so far, but the results have been described as “remarkable” and “transformative.” However, progress remains hindered by regulatory hurdles and logistical delays, leaving families and physicians in a race against time.

First Results Prompt Urgent Calls for Expanded Access

Dr. Andrea Gropman, a pediatric neurologist at Children’s National Hospital who leads the clinical team, told NewsHour: We are seeing improvements in seizure control, motor function, and overall quality of life that we never thought possible for these children. DFMO appears to correct the metabolic derangement at its source.

The syndrome, BABS, is caused by mutations in the ODC1 gene, leading to overproduction of ornithine decarboxylase and toxic levels of polyamines. DFMO inhibits that enzyme, offering a targeted therapy where none existed.

Background: A Drug’s Unlikely Journey

DFMO was originally developed decades ago to treat human African trypanosomiasis (sleeping sickness). It was also used for hirsutism and certain cancers, but its high cost and limited indications caused it to be largely shelved.

In 2021, a groundbreaking study identified that DFMO could counteract the polyamine accumulation in BABS cells. Subsequent compassionate-use cases showed dramatic reductions in seizures and developmental gains.

“This is a textbook example of drug repurposing accelerated by precision medicine,” said Dr. Matthew Might, a computational biologist at the University of Alabama and a parent of a child with a similar rare disorder. “But the current regulatory framework isn’t designed for ultra-rare conditions. We need faster pathways.”

What This Means: A Template for Rare Disease Breakthroughs

The success with DFMO suggests that other forgotten drugs might be resurrected for genetic disorders if the biology is properly understood. For BABS families, it represents the first real hope for a disease-modifying treatment.

Yet, without streamlined approvals, many children may miss their window of opportunity. The FDA has designated DFMO as an orphan drug for BABS, but a full approval process could take years.

• Key challenge: Securing funding for a Phase 3 trial in an ultra-rare disease.
• Next steps: Researchers are applying for accelerated approval based on existing compassionate-use data.

Dr. Gropman emphasized: We cannot afford to wait. Every day without treatment is lost potential for these children.

Call for Global Collaboration

Clinical networks are now forming across the U.S., Europe, and Asia to share data and expand access to DFMO. The hope is that this repurposed drug will finally get the attention—and investment—it needs to save lives.

“This is more than a story about one drug,” concluded Dr. Might. “It’s about rethinking how we bring hope to the rarest patients.”