

WELCOME TO THE
Bachmann-Bupp
Family Coalition
Our Foundation
The mission of the Bachmann-Bupp Syndrome Foundation 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.
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.
Disease Overview
Synonyms
ODC1 gain-of-function-related neurodevelopmental disorder
Our mission
The mission of the Bachmann-Bupp Family Coalition is to dedicated to transforming the individuals and families affected by Bachmann-Bupp Syndrome. Our mission is to drive awareness, support groundbreaking research, and provide resources that empower families diagnosed with Bachmann-Bupp. Through collaboration, advocacy, and education, we strive to foster a community of hope, resilience, and progress.
Programs & Resources
RareCare Assistance Programs
NORD strives to open new assistance programs as funding allows. If we don’t have a program for you now, please continue to check back with us.
RareCare Assistance Programs
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.

Clinical Trials and Studies
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.
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov