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Clinical Registry Investigating Bardet-Biedl Syndrome

Who can join

All ages · All sexes

Inclusion Criteria: (1) Genetic confirmation of BBS or (2) manifest four primary features of BBS or (3) manifest three primary features plus two secondary features.

Primary Features: Rod-Cone dystrophy, Polydactyly, Obesity, Learning disabilities, Hypogonadism in males, Renal anomalies

Secondary Features: Speech disorder/delay, Strabismus/cataracts/astigmatism, Brachydactyly/syndactyly, Developmental delay, Polyuria/polydipsia, Ataxia/poor coordination/imbalance, Mild spasticity (especially lower extremities), Left ventricular hypertrophy/congenital heart disease, Hepatic fibrosis

Exclusion Criteria:

Individuals not meeting established genetic and/or phenotypic criteria

About the study

Bardet-Biedl Syndrome (BBS) is a rare genetic disorder associated with a vast array of symptoms. The features of BBS are highly variable, even between siblings, making long-term follow-up and centralization of information vital to better understanding this complex disease and designing effective treatments.

Marshfield Clinic has developed the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) to gather comprehensive health information from patients diagnosed with BBS in a single repository. This information will be used to inform patients, families, and physicians about the complex features of BBS and will serve as a platform for researchers to develop effective and targeted treatment strategies for patients with BBS.

CRIBBS is a web-based, confidential database and the privacy of patients enrolled in the registry will always be respected. Information maintained in the database will be identifiable only by an assigned study identification number, not by name. The registry strictly complies with HIPAA regulations. CRIBBS participants may be contacted periodically with information regarding clinical trials or research studies, but participation is entirely voluntary.

CRIBBS will bring together complex genetic and clinical information from BBS patients to accelerate research into effective treatments, attract additional researchers, and make it easier for researchers to identify patients and find funding for innovative studies.

Sponsor: Marshfield Clinic Research Foundation · Participants: 1,200 · Started: 2014-06

Contact the study team

• Deborah L Johnson · Phone: 877-594-3499
• Robert M Haws, M.D. · Phone: 715-387-5092

Official record on ClinicalTrials.gov — NCT02329210

Locations in the U.S.

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.