Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults

Completed

• Conditions: Bardet-Biedl Syndrome; Orphan Diseases

• Registration Number: NCT00213811
• Lead Sponsor: University Hospital, Strasbourg, France

Brief Summary

This study is based on the study of the natural history of a rare disorder: the Bardet-Biedl syndrome (BBS) (which is associated with retinitis pigmentosa, polydactyly, cognitive impairment, obesity, and kidney failure). The clinical, biological, and radiological features of adult patients are studied. In parallel, a molecular study is performed on the known genes to date (8 genes from BBS1 to BBS8) and to identify new genes involved. The parts of the study are combined in a phenotype-genotype correlation study.

Detailed Description

Not available

Study Timeline

• Study Start: 2003-06
• Study First Submitted: 2005-09-13
• Study First Submitted QC: 2005-09-13
• Study First Posted: 2005-09-21
• Status Verified: 2008-08
• Last Update Submitted: 2008-08-07
• Last Update Posted: 2008-08-08

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 40

Inclusion Criteria

• Adult (age over 16 years old)
• At least 3 of the five major criteria (retinitis pigmentosa, obesity, polydactyly, cognitive impairment, and kidney disorder) and/or BBS mutations identified

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Outcome evaluated end 2005 and 2006
Clinical results (natural history, phenotype-genotype correlations, genetic epidemiology, new genes identification

Secondary Outcome Measures

Name	Time	Method
This study may lead to further clinical investigations according to the results (new protocol to be established) and to further molecular investigations

Trial Locations

Locations (1)

Hélène Dollfus; 🇫🇷 Strasbourg, France