A forgotten drug is giving new hope to kids with a rare disease
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A forgotten drug is giving new hope to kids with a rare disease
A decades-old drug could become a lifesaving breakthrough for one of the world’s rarest genetic disorders.
Date:
April 29, 2026
Source:
Corewell Health
Summary:
A decades-old drug once used to treat sleeping sickness is now showing surprising promise against an ultra-rare and life-threatening genetic disorder called Bachmann-Bupp syndrome (BABS). Early patient treatments suggest the drug, DFMO, may ease severe symptoms by targeting the underlying genetic malfunction. Researchers have already treated a handful of patients with encouraging results, but progress has been slowed by regulatory and logistical hurdles.
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FULL STORY
Marley Berthoud of Mattawan, Michigan, was the first patient to be diagnosed with Bachmann-Bupp Syndrome, with the help of her physician Dr. Caleb Bupp (pictured) at Corewell Health in Grand Rapids, Mich. There are now 20 patients diagnosed with the rare disorder worldwide. Credit: Corewell Health
A medication that has been around for decades and used to treat several conditions, including a chronic parasitic infection, is now emerging as a potential option for patients with a different and far rarer disease. Early findings suggest the drug could help people with Bachmann-Bupp syndrome (BABS), a life-threatening genetic disorder that affects only a small number of individuals worldwide.
This progress is being driven by a new collaboration between Corewell Health, Michigan State University, and Every Cure, a nonprofit biotech group focused on finding new uses for existing drugs.
"Beyond helping us build preclinical studies and retrospective analyses, the team at Every Cure has already begun helping us navigate regulatory pathways and compliance on so many levels in the hopes that we can treat more of our BABS patients," said Caleb Bupp, M.D., pediatric geneticist for Corewell Health Helen DeVos Children's Hospital in Grand Rapids, Michigan. "They are opening doors that we never would have been able to crack open. It's a hopeful and exciting time for all of us and more importantly, our patients."
What Is DFMO and How It Works
The drug, called difluoromethylornithine, also known as DFMO or eflornithine, has a long history in medicine. It has been used to treat West African sleeping sickness, a chronic illness spread by the tsetse fly. It is also used to reduce unwanted facial hair in women and to help prevent neuroblastoma from returning.
Researchers at Corewell Health and Michigan State University College of Human Medicine have now identified another possible use. They found that DFMO may help treat Bachmann-Bupp syndrome and have already administered it to a small number of patients through an FDA-approved, single-patient investigational protocol.
Understanding Bachmann-Bupp Syndrome (BABS)
BABS is caused by gain-of-function mutations in the ornithine decarboxylase, or ODC1 gene. These mutations lead to serious developmental challenges, including significant delays, low muscle tone, and hair loss.
DFMO directly targets this pathway. It works by inhibiting the ODC protein, which in turn reduces the excessive enzyme activity caused by the mutated gene. In the limited number of patients treated so far, this approach has led to improvements in several symptoms.
"I've studied DFMO and its effect on the ODC1 gene for three decades, including its clinical use in pediatric neuroblastoma," said MSU pediatrics professor André Bachmann, Ph.D., who along with Dr. Bupp collaborated to be the first to identify BABS in a patient. "It was a chance encounter with Dr. Bupp that we connected and were able to use DFMO on a patient -- and now five others -- with promising early results."
Challenges Slowing Progress
Despite the encouraging early outcomes, moving this potential treatment forward has not been easy. The condition itself is extremely rare, with only about 20 reported cases worldwide, making it difficult to build awareness and design large studies.
Regulatory requirements and the complexity of launching clinical trials have also delayed progress. Although the Food and Drug Administration (FDA) has encouraged Drs. Bupp and Bachmann to proceed with a formal trial, key hurdles remain, including defining study goals and reaching enough patients.
"For the past year, we've been at a standstill as far as moving our DFMO therapy forward," Dr. Bupp said.
New Partnership Aims to Accelerate Research
Every Cure is stepping in to help address these obstacles. The organization is working to strengthen the scientific evidence, increase awareness among doctors and rare disease groups, and support systems that ensure patients are properly identified and treated as research continues.
"Our role is to help bridge this gap by strengthening the evidence behind BABS and DFMO through preclinical studies, increasing awareness among