Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS)

July 18, 2022 updated by: Jeremy Pomeroy, PhD, Marshfield Clinic Research Foundation

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.

Study Overview

Status

Recruiting

Conditions

Detailed Description

The Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) is an international registry for individuals with a rare genetic disorder called Bardet-Biedl syndrome (BBS). The registry is sustained by private philanthropic funding sources. The primary objective of establishing and sustaining CRIBBS is to enable clinical natural history studies and therapeutic trials in individuals with BBS.

Participation in CRIBBS is open to individuals meeting diagnostic criteria for BBS and/or genetic confirmation of the condition. Identification and recruitment of members will be accomplished in two approaches. First, family support organizations will share information regarding CRIBBS and encourage enrollment in the registry. Second, a website will be developed for participants, families and health care providers. This website provides a portal for registration as well as medical and new information impacting health care for individuals with BBS.

Selection and Enrollment of Participants:

A website portal at www.bbs-registry.org facilitates voluntary registration of interested individuals. A CRIBBS coordinator will contact the individual and/or family to establish that participants meet published diagnostic criteria and/or genetic criteria for BBS. Individuals meeting criteria will be consented and assigned a unique identifier.

Data collection:

Consented participants and/or their parent/guardian will be interviewed by a CRIBBS coordinator to collect demographic information as well as completion of a health questionnaire. Because CRIBBS is an international study and participants are geographically dispersed most individuals will be interviewed using secured telephone or Internet services. Participants will also be asked to complete behavioral health surveys. Health information from providers and treatment facilities will be obtained with appropriate authorization. The CRIBBS coordinator will conduct an annual update of health information and the behavioral health surveys will be repeated.

Data Safety Monitoring:

  • Participant confidentiality: Participation in CRIBBS is voluntary and every effort will be made to ensure participant privacy. Interviews with participants will be carried out by a CRIBBS coordinator in closed room. Personal Health Information obtained for health information abstraction will be stored securely in a double locked environment and destroyed following data abstraction. CRIBBS makes use primarily of an electronic database which is password protected and only accessible to CRIBBS staff members.
  • Data use: Participant information will be used to inform researchers of the natural history of BBS, refine research initiatives and facilitate new therapies for individuals with BBS. De-identified data will be shared researchers and organizations approved by the CRIBBS board of directors.
  • Registry Oversight: The Marshfield Clinic Research Foundation Institutional Review Board provides oversight of the CRIBBS registry while the CRIBBS board of directors determine the direction and focus of the registry.

Study Type

Observational

Enrollment (Anticipated)

1200

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Individuals meeting the diagnostic criteria of Bardet-Biedl syndrome and/or with genetic confirmation of the condition are eligible for participation in CRIBBS. Deceased individuals meeting diagnostic and/or genetic criteria may also be enrolled by their next of kin.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Clinical Registry Investigating Bardet-Biedl Syndrome
Time Frame: 15 years
Natural history observational study of Bardet-Biedl syndrome
15 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Marshfield Clinic Research Foundation

Investigators

  • Principal Investigator: Robert M Haws, M.D., Marshfield Clinic Research Institute

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

June 1, 2014

Primary Completion (Anticipated)

December 1, 2030

Study Completion (Anticipated)

December 1, 2030

Study Registration Dates

First Submitted

December 26, 2014

First Submitted That Met QC Criteria

December 26, 2014

First Posted (Estimate)

December 31, 2014

Study Record Updates

Last Update Posted (Actual)

July 19, 2022

Last Update Submitted That Met QC Criteria

July 18, 2022

Last Verified

July 1, 2022

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • HAW10113

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

Undecided

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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