Clinical Registry Investigating Bardet-Biedl Syndrome

Status: Recruiting
Location: See location...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

• 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

Locations
United States
Wisconsin
Marshfield Clinic Research Foundation
RECRUITING
Marshfield
Contact Information
Primary
Deborah L Johnson
cribbs@mcrf.mfldclin.edu
877-594-3499
Backup
Robert M Haws, M.D.
haws.robert@marshfieldclinic.org
715-387-5092
Time Frame
Start Date: 2014-06
Estimated Completion Date: 2030-12
Participants
Target number of participants: 1200
Related Therapeutic Areas
Sponsors
Leads: Marshfield Clinic Research Foundation

This content was sourced from clinicaltrials.gov