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, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann

eflornithine DFMO alopecia ODC1 gene mutations hair regrowth Vaniqa

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 Bachmann–Bupp Syndrome and Treatment

July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology”

This study found that patients with Bachmann-Bupp syndrome treated with DFMO showed improvements in hair growth, muscle tone, and development.

research Expanding the Phenotype: Four New Cases and Hope for Treatment in Bachmann-Bupp Syndrome

11 citations , September 2021 in “American Journal of Medical Genetics Part A”

This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.

research Biochemical Features of Primary Cells from a Pediatric Patient with a Gain-of-Function ODC1 Genetic Mutation

15 citations , June 2019 in “Biochemical Journal”

This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.

research Gain-Of-Function Variants In The ODC1 Gene Cause A Syndromic Neurodevelopmental Disorder Associated With Macrocephaly, Alopecia, Dysmorphic Features, And Neuroimaging Abnormalities

28 citations , November 2018 in “American Journal of Medical Genetics Part A”

This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

research Novel De Novo Pathogenic Variant in the ODC1 Gene in a Girl with Developmental Delay, Alopecia, and Dysmorphic Features

39 citations , September 2018 in “American Journal of Medical Genetics Part A”

This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

research Modulation of Murine Hair Follicle Function by Alterations in Ornithine Decarboxylase Activity

71 citations , May 1996 in “Journal of Investigative Dermatology”

This study found that overexpression of a mutated ornithine decarboxylase transgene in mice led to complete hair loss, which could be prevented or reversed with an ODC inhibitor.