Bardet-Biedl Syndrome

Overview

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy with retinal dystrophy as a primary feature. It is characterized by the hexad of rod-cone dystrophy, obesity, polydactyly, renal anomalies, learning difficulties, and hypogonadism. BBS is caused by mutations in at least 24 genes encoding components of the primary cilium, a cellular organelle critical for photoreceptor function and development.

Genetics

BBS is genetically heterogeneous with 24+ causative genes, all encoding ciliary proteins. BBS1 and BBS10 are the most common, together accounting for ~30% of cases.

Clinical Presentation

Diagnosis

• Clinical criteria: Diagnosis requires 4 primary features, or 3 primary + 2 secondary
• ERG: Rod-cone dystrophy pattern
• Renal ultrasound: Structural anomalies in ~50%
• Genetic testing: BBS gene panel (24+ genes)
• Metabolic evaluation: Glucose, insulin, lipid profile
• Developmental assessment: Cognitive and behavioral evaluation

Current Research & Treatment

BBS lacks disease-specific treatments, but management focuses on individual features. Setmelanotide (Imcivree), an MC4R agonist, was FDA-approved in 2021 for obesity in BBS. Gene therapy for the retinal component is in preclinical development. The ciliopathy research community is actively working on understanding the BBSome complex to identify therapeutic targets.

Active Clinical Trials

The following active clinical trials are investigating treatments for Bardet-Biedl Syndrome. Trial status and enrollment may change; always verify directly on ClinicalTrials.gov.

Supporting Organizations

The following nonprofit organizations fund research, support patients, and advocate for advances in the treatment and cure of Bardet-Biedl Syndrome.