Existing Drug DFMO Shows Promise for Rare Genetic Disorder BABS
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An existing medication, difluoromethylornithine (DFMO), has been identified as a potential treatment for the rare and life-threatening Bachmann-Bupp syndrome (BABS). Researchers have administered the drug to five patients under a special FDA protocol, and the agency has encouraged the team to proceed with a formal clinical trial. A preclinical study is expected to begin next year.
Facts First
- DFMO, an existing drug, may treat Bachmann-Bupp syndrome (BABS), a rare, life-threatening genetic disorder.
- The drug has been given to five BABS patients under an FDA-approved investigational protocol.
- The FDA has encouraged researchers to begin a formal trial, with a preclinical study expected next year.
- BABS is caused by a specific genetic mutation and symptoms include developmental delays and hair loss.
- A collaboration between Corewell Health, MSU, and nonprofit Every Cure is driving the research forward.
What Happened
Researchers at Corewell Health and Michigan State University (MSU) identified the existing drug difluoromethylornithine (DFMO) as a potential treatment for Bachmann-Bupp syndrome (BABS). The research team, which includes pediatric geneticist Caleb Bupp, M.D., and MSU pediatrics professor André Bachmann, Ph.D., has administered DFMO to five patients with BABS through an FDA-approved, single-patient investigational protocol. The Food and Drug Administration (FDA) has since encouraged the doctors to proceed with a formal trial.
Why this Matters to You
While BABS is extremely rare, with only about 20 reported cases worldwide, this development represents a significant advance in the field of drug repurposing. It demonstrates a pathway where an existing, approved medication could be rapidly adapted to treat a new, life-threatening condition, which could serve as a model for other rare diseases. For families affected by BABS, this research may offer the first tangible hope for a treatment.
What's Next
A preclinical study is expected to begin next year. The research is being supported by a collaboration between Corewell Health, Michigan State University (MSU), and the nonprofit biotech group Every Cure, which is focused on finding new uses for existing drugs.