WELCOME TO THE
Bachmann-Bupp
Family Coalition
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Our Foundation
BBF's mission is to advance medical and scientific research related to Bachmann-Bupp Syndrome and related disorders, with the goal of finding a cure or treatments that will improve the lives of those affected. We strive to connect our rare community and provide support to our SBB families.
What is BABS?
Bachmann-Bupp syndrome (BABS) is a rare genetic disorder caused by gain-of-function changes (pathogenic variants or mutations) in the ODC1 gene. Affected individuals have a distinctive type of hair loss (alopecia), global developmental delay, low muscle tone (hypotonia), nonspecific abnormal physical characteristics (dysmorphic features) and behavioral abnormalities. There is no cure for the disorder, but research is underway to better understand and treat this disease. Current treatment is aimed at the specific symptoms present in each individual.
BABS is also referred to as ODC1-Related Neurodevelopmental Disorder
Under an investigational new drug approval through the FDA, a compassionate-use protocol is investigating the use of difluoromethylornithine (DFMO, also known as eflornithine) in the treatment of individuals with BABS through the International Center for Polyamine Disorders. Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
BABS News & Updates
