Sumary of Child with Bachmann-Bupp Syndrome successfully treated in just 16 months:
- 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 in the open-access journal, eLife.
- For more than 25 years, André Bachmann, professor of pediatrics in Michigan State University College of Human Medicine, had been studying the ODC1 gene.
- In 2018, Caleb Bupp, a medical geneticist at Helen DeVos Children’s Hospital in Grand Rapids and clinical assistant professor in the Department of Pediatrics and Human Development in Michigan State University College of Human Medicine, had an unusual patient.
- Bupp recalled a presentation by Surender Rajasekaran, a pediatric ICU physician at Helen DeVos and assistant professor in the Department of Pediatrics and Human Development in the Michigan State University College of Human Medicine, and Bachmann about ODC1, and he reached out to them.
- With her family’s approval, Marley started taking DFMO in 2019. This was the first FDA-approved single-patient study in the world to treat a patient with an ODC1 mutation using DFMO.
- Bupp contacted Metabolon, a health technology company based in Morrisville, North Carolina, that has developed a tool for the detecting biological markers of rare diseases and response to treatment.
- Metabolon’s Precision Metabolomics technology could test Marley’s blood samples before and during treatment to find out exactly how her body’s metabolism responded to DFMO treatment and the effect the drug was having on her body.