Trials / NCT00213811
Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults
Completed Observational Natural history / observational
- Sponsor
- University Hospital, Strasbourg, France
- Treatment
- clinical, biological, and radiological
- Gene
- BBS1
- Conditions
- Bardet-Biedl Syndrome, Orphan Diseases
- Ages
- 16 Years to no upper limit
- Enrollment
- 40 participants
- Started
- 2003-06
- Main results expected
- Not stated
- Results posted
- Not yet
- Record last updated
- 2008-08-08
What the study is testing
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.
Where it runs
France (1)
- Hélène Dollfus, Strasbourg