Clinical Registry Investigating Bardet-Biedl Syndrome

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