Clinical Trial: Clinical Registry Investigating Bardet-Biedl Syndrome

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational [Patient Registry]

Official Title: Clinical Registry Investigating Bardet-Biedl Syndrome

Brief Summary:

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.

Detailed Summary:

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 servic
Sponsor: Marshfield Clinic Research Foundation

Current Primary Outcome: Clinical Registry Investigating Bardet-Biedl Syndrome [ Time Frame: 10years ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

Original Secondary Outcome:

Information By: Marshfield Clinic Research Foundation

Dates:
Date Received: December 26, 2014
Date Started: June 2014
Date Completion: December 2025
Last Updated: September 12, 2016
Last Verified: September 2016