Clinical Registry Investigating Bardet-Biedl Syndrome
Clinical Registry Investigating Bardet-Biedl Syndrome
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.
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 with the Global Rare Diseases Registry Data
 Repository (GRDR) maintained by the National Center for Advancing Translational Sciences
 at the National Institutes of Health and with other 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.
Inclusion Criteria: (1) Genetic confirmation of homozygosity for an established gene
 mutation associated with 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