Renal transplantation in Bardet-Biedl Syndrome.
Robert M Haws, Aditya Joshi, Siddharth A Shah...
https://pubmed.ncbi.nlm.nih.gov/27245600Actively Recruiting
All Genders
ID02329210
Clinical Registry Investigating Bardet-Biedl Syndrome
Led by Marshfield Clinic Research Foundation · Updated on 2022-07-19
1200
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Bardet-Biedl Syndrome (BBS) is a rare genetic disorder with a wide range of symptoms that can vary greatly even among family members. Researchers have created the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) to collect detailed health information from people diagnosed with BBS in one secure database. This helps families, doctors, and researchers better understand the disease and supports the development of targeted treatments for BBS. CRIBBS is a confidential, web-based registry where participants provide health details through interviews and surveys, often conducted by phone or online due to geographic distances. Participants or their guardians complete health questionnaires and behavioral surveys initially and annually. Medical records are also collected with permission to enrich the data. The registry operates under strict privacy rules, using unique identifiers instead of names and following HIPAA regulations. Participants help by sharing their health information regularly, which is securely stored and used to study the natural history of BBS and support future research. The registry is overseen by an institutional review board and a board of directors to guide its focus. CRIBBS aims to accelerate research for effective treatments by gathering and sharing de-identified data with approved researchers worldwide.
CONDITIONS
Brief Title
Clinical Registry Investigating Bardet-Biedl Syndrome
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Genetic confirmation of Bardet-Biedl Syndrome (BBS) or
- Presence of four primary features of BBS or
- Presence of three primary features plus two secondary features of BBS
Primary Features: Rod-Cone dystrophy, Polydactyly, Obesity, Learning disabilities, Hypogonadism in males, Renal anomalies
Secondary Features: Speech disorder or delay, Strabismus, cataracts or astigmatism, Brachydactyly or syndactyly, Developmental delay, Polyuria or polydipsia, Ataxia or poor coordination or imbalance, Mild spasticity especially in lower extremities, Left ventricular hypertrophy or congenital heart disease, Hepatic fibrosis
You will not qualify if you...
- Individuals not meeting the established genetic and/or clinical criteria for Bardet-Biedl Syndrome
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (remote via phone or internet)
Surveillance
Duration - Up to 15 years
Participants are observed through periodic updates to collect health and behavioral information over time.
Annual interviews and behavioral health surveys (remote via phone or internet)
Trial Site Locations
Total: 1 location
1
Marshfield Clinic Research Foundation
Marshfield, Wisconsin, United States, 54449
Actively Recruiting
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Research Team
D
Deborah L Johnson
R
Robert M Haws, M.D.
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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Published Research Related To This Trial
Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease.
A Panny, I Glurich, R M Haws...
https://pubmed.ncbi.nlm.nih.gov/28662344Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy.
Andrew J Olson, Anthony D Krentz, Kathleen M Finta...
https://pubmed.ncbi.nlm.nih.gov/30293640Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome.
Jeremy Pomeroy, Anthony D Krentz, Jesse G Richardson...
https://pubmed.ncbi.nlm.nih.gov/32700463Kidney failure in Bardet-Biedl syndrome.
Jennifer R Meyer, Anthony D Krentz, Richard L Berg...
https://pubmed.ncbi.nlm.nih.gov/35112343