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 physicians and rare disease organizations, and ensuring that no child goes undiagnosed or untreated,” said David Fajgenbaum, M.D., co-founder and Every Cure president.

The three groups have already begun building on years of prior research led by Drs. Bachmann and Bupp, along with Corewell Health physician Surender Rajasekaran, M.D., and other collaborators. A preclinical study is expected to begin next year, marking an important step toward potentially bringing this therapy to more patients.