Doctors have discovered that a medicine used for many years may help children with a very rare genetic disease called Bachmann‑Bupp syndrome (BABS). Early tests show the drug could improve several serious symptoms.
The breakthrough comes from a partnership between Corewell Health, Michigan State University, and the nonprofit group Every Cure, which looks for new uses of existing medicines.
"Every Cure is helping us design studies, look at past records, and figure out the rules we need to follow," said Dr. Caleb Bupp, a pediatric geneticist at Corewell Health. "Their support opens doors we could not open on our own, giving hope to our patients."
What Is DFMO?
DFMO, also called difluoromethylornithine or eflornithine, is an old drug. It has been used to treat West African sleeping sickness, to slow unwanted facial hair growth, and to keep a type of childhood cancer from returning.
Researchers at Corewell Health and Michigan State University now think DFMO might also help people with BABS. They have already given the drug to a few patients under an FDA‑approved, single‑patient study.
Understanding Bachmann‑Bupp Syndrome
BABS is caused by a mutation in the ODC1 gene, which makes an enzyme work too much. The disease leads to big developmental problems, weak muscles, and hair loss.
DFMO works by blocking the ODC protein, calming the overactive enzyme. In the small group of patients treated so far, doctors have seen improvements in several symptoms.
"I have studied DFMO for more than 30 years, especially its use in pediatric neuroblastoma," explained Dr. André Bachmann, a professor at MSU. "When I met Dr. Bupp, we tried DFMO on a BABS patient and now on five more, with encouraging early results."
Barriers to Faster Progress
Even with positive signs, moving the treatment forward is hard. BABS is extremely rare—only about 20 cases are known worldwide—so gathering enough patients for big studies is difficult.
Regulatory steps and the complexity of launching clinical trials also slow things down. The FDA has encouraged the researchers to start a formal trial, but they still need clear goals and enough participants.
"We have been stuck for a year trying to push DFMO therapy forward," Dr. Bupp said.
New Partnership Aims to Speed Up Research
Every Cure is stepping in to help clear these hurdles. The group plans to strengthen scientific proof, raise awareness among doctors and rare‑disease advocates, and create systems to find and treat more patients.
"Our job is to bridge the gap by building stronger evidence for DFMO and BABS, educating physicians, and ensuring no child is left undiagnosed or untreated," said Dr. David Fajgenbaum, co‑founder of Every Cure.
The three teams are now preparing a pre‑clinical study that should start next year, moving the therapy one step closer to reaching more families.