Registry for individuals with Bardet-Biedl Syndrome
Official title: Clinical Registry Investigating Bardet-Biedl Syndrome
Run by Marshfield Clinic Research Foundation · NCT02329210 · Data updated 2026-11-12
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 |
|---|---|
| Sex | All |
| Enrollment | 1200 (estimated) |
| Sponsor | Marshfield Clinic Research Foundation Academic / other |
| Locations | 1 site (Marshfield, Wisconsin) |
| Status | Recruiting |
| Started | June 2014 |
| Main results expected | December 2030 |
| Study ends | December 2030 |
| Registry record updated | July 19, 2022 |
| Trial ID | NCT02329210 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably not a fit
Patients who do not meet the established genetic or phenotypic criteria for Bardet-Biedl Syndrome will not benefit from this registry.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: Other registries for rare genetic disorders have shown success in improving patient outcomes and advancing research, indicating that this approach is promising.
Who can join: the full rules
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 it's running
-
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
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
Setmelanotide in BBS and related genetic obesity: real-world effects
This study tests how well Setmelanotide works and is tolerated in people with Bardet-Biedl syndrome or similar genetic obesity conditions in routine clinical care.
-
Observing the health management of patients with rare genetic syndromes
This study looks at how patients with rare genetic syndromes like Prader-Willi and Klinefelter manage their health as they move from children's care to adult care to see what support they need.
-
Cohort for Bardet-Biedl and Alström Syndromes
This study is trying to learn more about Bardet-Biedl and Alström Syndromes by collecting health information from both kids and adults to see how these rare conditions affect their lives over time.
-
Registry for inherited retinal degenerative diseases
This study is creating a registry for people with rare inherited eye diseases to help track their health and experiences over time, making it easier to understand these conditions and support research.
-
Resource for Hepato/Renal Fibrocystic Diseases
This study is trying to collect detailed health and genetic information from people with hepato/renal fibrocystic diseases to improve understanding and treatment options for these conditions.
-
First-in-human, dose-escalation test of AXV-101 for BBS1-related retinal degeneration
AXV-101 is tested in children and teens with BBS1 retinal degeneration to see if it is safe, find a good dose, and measure how much drug appears in blood, urine, and tears.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.