Bardet-Biedl Syndrome (BBS)

What is Bardet-Biedl Syndrome (BBS)?

Bardet-Biedl Syndrome (BBS) is a rare, multisystem genetic disorder that affects development and function of the cilia, the hair-like structures on cells that help with signaling and movement. The hallmark of BBS is a combination of retinal degeneration, obesity, polydactyly, kidney abnormalities, intellectual disability, and hypogonadism, which are caused by mutations in genes responsible for ciliary function. In BBS, patients experience progressive vision loss (often starting in childhood), extra fingers or toes, weight gain, learning difficulties, and sometimes kidney dysfunction. More information about BBS may be found on the NIH’s website: https://rarediseases.info.nih.gov/diseases.

What is the prevalence of Bardet-Biedl Syndrome (BBS)?

The estimated incidence of BBS is 1 in 140,000 to 160,000 people worldwide, although prevalence is higher in some populations with higher rates of consanguinity. There are fewer than 5,000 people affected by BBS in the US.

How is Bardet-Biedl Syndrome (BBS) diagnosed?

BBS is diagnosed based on clinical evaluation, family history, and the presence of primary and secondary features including retinal dystrophy, polydactyly, obesity, genital anomalies, and kidney abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in one of at least 26 known BBS genes.

Is there any specific gene/pathway in Bardet-Biedl Syndrome (BBS) that has been identified?

BBS is caused by mutations in genes that affect the structure and function of cilia, such as BBS1, BBS2, BBS10, and others. These genes encode proteins that form the BBSome complex, which is essential for proper ciliary signaling and intracellular transport. Disruption of these pathways leads to the wide range of symptoms seen in BBS.

How is Bardet-Biedl Syndrome (BBS) treated?

There is currently no cure for BBS. Treatment is symptom-based and supportive, including low-vision aids, weight management, hormone therapy, special education services, renal monitoring, and management of associated conditions like diabetes or hypertension. More information on treatment may be found here: https://rarediseases.org/rare-diseases/.

Are there any clinical trials underway for Bardet-Biedl Syndrome (BBS)?

The National Institutes of Health (NIH) has completed 4 clinical trials for BBS. Currently, there are 6 clinical trials underway, including gene therapy and pharmacologic agents targeting ciliary pathways and obesity. More information on future studies and patient recruitment can be found here: https://clinicaltrials.gov/.

How can RareShare be helpful to Bardet-Biedl Syndrome (BBS) patients and families?

The BBS community has 7 members. There is currently 1 active discussion underway. New discussions can help connect patients, health workers, caregivers, and families interested in BBS and provide them with continual access to community resources. Join the Rare Share community here: https://rareshare.org/communities/bardet-biedl-syndrome