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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.

Image by Katie Rainbow 🏳️‍🌈

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

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 The Bachmann-Bupp Syndrome Foundation is a 501(c)(3) non-profit organization.

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