Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

    April 2025 in “ American Journal of Medical Genetics Part C Seminars in Medical Genetics ”
    Caleb Bupp, Elizabeth VanSickle, Julianne Michael … André S. Bachmann
    Studysummary The researchers reported that repurposing the drug eflornithine may offer a treatment option for Bachmann-Bupp Syndrome, highlighting a potential model for other rare diseases.
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    Research cited in this study 6

    1. Bachmann–Bupp Syndrome and Treatment Developmental medicine and child neurology/Developmental medicine & child neurology · 2023
    2. Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome American Journal of Medical Genetics Part A · 2021
    3. Biochemical Features of Primary Cells from a Pediatric Patient with a Gain-of-Function ODC1 Genetic Mutation Biochemical Journal · 2019
    4. Gain-Of-Function Variants In The ODC1 Gene Cause A Syndromic Neurodevelopmental Disorder Associated With Macrocephaly, Alopecia, Dysmorphic Features, And Neuroimaging Abnormalities American Journal of Medical Genetics Part A · 2018
    5. Novel De Novo Pathogenic Variant in the ODC1 Gene in a Girl with Developmental Delay, Alopecia, and Dysmorphic Features American Journal of Medical Genetics Part A · 2018
    6. Modulation of Murine Hair Follicle Function by Alterations in Ornithine Decarboxylase Activity Journal of Investigative Dermatology · 1996