Clinical Trial: Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults
Study Status: Completed
Recruit Status: Completed
Study Type: Observational
Official Title: Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults
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 Summary:
Sponsor: University Hospital, Strasbourg, France
Current Primary Outcome:
- Outcome evaluated end 2005 and 2006
- Clinical results (natural history, phenotype-genotype correlations, genetic epidemiology, new genes identification
Original Primary Outcome: Same as current
Current Secondary Outcome: This study may lead to further clinical investigations according to the results (new protocol to be established) and to further molecular investigations
Original Secondary Outcome: Same as current
Information By: University Hospital, Strasbourg, France
Dates:
Date Received: September 13, 2005
Date Started: June 2003
Date Completion:
Last Updated: August 7, 2008
Last Verified: August 2008
