Trials / Completed
CompletedNCT00213811
Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults
Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults
- Status
- Completed
- Phase
- —
- Study type
- Observational
- Enrollment
- 40 (planned)
- Sponsor
- University Hospital, Strasbourg, France · Academic / Other
- Sex
- All
- Age
- 16 Years
- Healthy volunteers
- —
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.
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| BEHAVIORAL | clinical, biological, and radiological |
Timeline
- Start date
- 2003-06-01
- First posted
- 2005-09-21
- Last updated
- 2008-08-08
Locations
1 site across 1 country: France
Source: ClinicalTrials.gov record NCT00213811. Inclusion in this directory is not an endorsement.