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

Bardet-Biedl Syndrome Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00213811
• Other study ID #: 2899
• Status: Completed
• Phase: N/A
• First received: September 13, 2005
• Last updated: August 7, 2008
• Start date: June 2003

Study information

• Verified date: August 2008
• Source: University Hospital, Strasbourg, France
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 40
• Gender: Both
• Age group: 16 Years and older

Eligibility

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

Study Design

N/A

Related Conditions & MeSH terms

• Bardet-Biedl Syndrome
• Orphan Diseases
• Syndrome

Intervention

Behavioral:
• clinical, biological, and radiological

Locations

Country	Name	City	State
France	Hélène Dollfus	Strasbourg

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Strasbourg, France

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Outcome evaluated end 2005 and 2006
Primary	Clinical results (natural history, phenotype-genotype correlations, genetic epidemiology, new genes identification
Secondary	This study may lead to further clinical investigations according to the results (new protocol to be established) and to further molecular investigations