Bachman-Bupp syndrome, or BABS, is a genetic condition caused by mutations in the ODC1 gene, which causes developmental delays in children, as well as total hair loss.
“It is what we would call ultra-rare. We’ve been at this now for eight years and we know of 21 patients in the world that have it.”
That’s Dr. Caleb Bupp with Corewell Health who, along with Michigan State University pediatrics professor Dr. Andre Bachman, collaborated to be the first to identify BABS in a patient.
A decades-old drug known as DFMO, which has historically been used to treat West African sleeping sickness, is now being used to treat BABS.
“So, our first patient we started treating in 2019 and she has done absolutely marvelous on treatment, and as we have heard from additional patients, we have been trying to figure out how to get more of them access to treatment.”
Corewell and MSU have teamed up with nonprofit Every Cure, which helps increase awareness among physicians and rare disease organizations.
“We’re at a little bit of an impasse here where, how do we do what we did with one patient on a broader scale when that broad scale is still really, really small?”
The team is seeking patients for a preclinical study.
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