NCT02329210Recruiting
Clinical Registry Investigating Bardet-Biedl Syndrome
Source: ClinicalTrials.gov · Last updated 19 Jul 2022 · Not updated for over 12 months - ask the site whether it is still open
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 1200 (estimated)
- First submitted
- 26 Dec 2014
- Start date
- Jun 2014
- Primary completion date
- Dec 2030
- Lead sponsor
- Marshfield Clinic Research Foundation
- NCT number
- NCT02329210
What you commit to
- Study type: Observational
- Planned participants: 1200
- From Jun 2014 to the primary completion date, Dec 2030
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- Individuals not meeting established genetic and/or phenotypic criteria
Who the study is looking for
- 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
Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Marshfield Clinic Research Foundation Coordinator of this site? Confirm its status | Marshfield | United States | Recruiting |
Related publications
- Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria.Am J Med Genet A · 2026 · PMID 42175648
This page is information, not medical advice. Discuss any trial with your doctor.