Clinical Registry Investigating Bardet-Biedl Syndrome

Launched by MARSHFIELD CLINIC RESEARCH FOUNDATION · Dec 26, 2014

Keywords

ClinConnect Summary

The Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) is a new study aimed at gathering important health information from patients diagnosed with Bardet-Biedl Syndrome (BBS). BBS is a rare genetic disorder that can cause a variety of symptoms, which can differ widely even among family members. By collecting this information in a secure online database, researchers hope to better understand the different features of BBS and develop more effective treatments for those affected. This registry will also help keep patients and their families informed about the disease and research opportunities.

To be eligible for CRIBBS, participants must either have a confirmed genetic diagnosis of BBS or show at least four main symptoms of the condition. These symptoms can include vision problems, extra fingers or toes, obesity, learning difficulties, and more. The registry is open to everyone, regardless of age or gender, and participation is completely voluntary. Participants can expect their privacy to be protected, as their information will be kept confidential and identified only by a study number. Throughout the study, participants may receive updates about new clinical trials or research studies that they can choose to join.

Gender

ALL

Eligibility criteria

• • 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