Registry for individuals with Bardet-Biedl Syndrome
Clinical Registry Investigating Bardet-Biedl Syndrome
This study is creating a registry to gather health information from people with Bardet-Biedl Syndrome to better understand the condition and help develop new treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1200 (estimated) |
| Sex | All |
| Sponsor | Marshfield Clinic Research Foundation Academic / other |
| Locations | 1 site (Marshfield, Wisconsin) |
| Trial ID | NCT02329210 on ClinicalTrials.gov |
What this trial studies
The Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) is an international registry designed to collect comprehensive health information from individuals diagnosed with Bardet-Biedl Syndrome (BBS), a rare genetic disorder. The registry aims to centralize data to enhance understanding of the disease's variable symptoms and to support the development of targeted treatment strategies. Participants are recruited through family support organizations and a dedicated website, where they can register and provide consent. Data collection involves interviews to gather demographic and health information while ensuring patient privacy.
Who should consider this trial
Good fit: Ideal candidates for this registry are individuals with a genetic confirmation of Bardet-Biedl Syndrome or those exhibiting specific clinical features of the condition.
Not a fit: Patients who do not meet the established genetic or phenotypic criteria for Bardet-Biedl Syndrome will not benefit from this registry.
Why it matters
Potential benefit: If successful, this registry could lead to improved understanding and treatment options for patients with Bardet-Biedl Syndrome.
How similar studies have performed: Other registries for rare genetic disorders have shown success in improving patient outcomes and advancing research, indicating that this approach is promising.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Marshfield, Wisconsin
- Marshfield Clinic Research Foundation — Marshfield, Wisconsin, United States (Recruiting)
Study contacts
- Principal investigator: Robert M Haws, M.D. — Marshfield Clinic Research Institute
- Study coordinator: Deborah L Johnson
- Email: cribbs@mcrf.mfldclin.edu
- Phone: 877-594-3499
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.