Treatment with Repurposed Drug Shows “Astounding” Early Success in Child with Rare Genetic Syndrome

Diagnosing a rare medical condition is difficult. Identifying a treatment for it can take years of trial and error. In a serendipitous intersection of research expertise, an ill patient in this case a child, and innovative technology, Bachmann-Bupp Syndrome has gone from a list of symptoms to a successful treatment in just 16 months. The paper chronicling this lightning-fast scientific response to the Bachmann-Bupp Syndrome was published on July 20, 2021 in the open-access journal, eLife. The article is titled “Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease.” For more than 25 years, André Bachmann (photo), PhD, Professor of Pediatrics in Michigan State University’s College of Human Medicine, had been studying the ODC1 gene. This gene and its protein product ODC (ornithine decarboxylase), which produces polyamines, are crucial for cell survival and contribute to many developmental processes, including muscle tone and motor skills in children. Through Dr. Bachmann's research, he also knew that the drug difluoromethylornithine (DFMO) (sometimes referred to as eflornithine), had already been successful and approved by the Food and Drug Administration for treating other diseases linked to problems with ODC like African sleeping sickness and hirsutism (excessive hair growth). It had also been studied in cancer clinical trials of colon cancer and pediatric neuroblastoma.