Grand Rapids and Southfield, Mich.-based Corewell Health, Michigan State University in East Lansing, and nonprofit biotech organization Every Cure are partnering to advance research into a decades-old drug, difluoromethylornithine (DFMO), as a potential treatment for Bachmann-Bupp syndrome, a rare neurodevelopmental condition caused by mutations in the ODC1 gene.
DFMO, also known as eflornithine, has historically been used to treat parasitic diseases such as West African sleeping sickness and to reduce recurrence in pediatric neuroblastoma. Corewell physicians and MSU researchers were the first to observe its potential in treating patients with the condition, according to a Jan. 8 news release from Corewell Health. Several individuals have received the medication under FDA-approved single-patient investigational protocols, with early improvements reported.
The syndrome is extremely rare, with only about 20 known cases worldwide. It is characterized by severe developmental delay, muscle hypotonia and alopecia. Researchers said in the release that they believe DFMO may help by inhibiting the overactive ODC1 protein that drives the disorder’s pathology.
While the FDA has encouraged the team to pursue a clinical trial, Corewell and Michigan State have cited challenges with regulatory navigation, study design and awareness for the ultra-rare condition. Every Cure has joined the effort to support preclinical study development and help accelerate access by offering regulatory, scientific and outreach support. The researchers hope to launch a preclinical trial in 2026.
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