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

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00213811

Enrollment

Registered

2005-09-21

Start date

2003-06-30

Completion date

Unknown

Last updated

2008-08-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Bardet-Biedl Syndrome, Orphan Diseases

Keywords

Bardet-Biedl syndrome, retinitis pigmentosa, obesity, genes

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.

Interventions

BEHAVIORALclinical, biological, and radiological

Eligibility

Sex/Gender

ALL

Age

16 Years to No maximum

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

Design outcomes

Primary

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

Secondary

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

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026