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

Primary Purpose

Bardet-Biedl Syndrome, Orphan Diseases

Status

Completed

Phase

Locations

France

Study Type

Observational

Intervention

clinical, biological, and radiological

About this trial

This is an observational trial for Bardet-Biedl Syndrome focused on measuring Bardet-Biedl syndrome, retinitis pigmentosa, obesity, genes

Eligibility Criteria

16 Years - undefined (Child, Adult, Older Adult)All Sexes

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

Sites / Locations

Hélène Dollfus

Outcomes

Primary Outcome Measures

Outcome evaluated end 2005 and 2006

Clinical results (natural history, phenotype-genotype correlations, genetic epidemiology, new genes identification

Secondary Outcome Measures

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

Full Information

NCT ID

NCT00213811

First Posted

September 13, 2005

Last Updated

August 7, 2008

Sponsor

University Hospital, Strasbourg, France

1. Study Identification

Unique Protocol Identification Number

NCT00213811

Brief Title

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

Official Title

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

Study Type

Observational

2. Study Status

Record Verification Date

August 2008

Overall Recruitment Status

Completed

Study Start Date

June 2003 (undefined)

Primary Completion Date

undefined (undefined)

Study Completion Date

undefined (undefined)

3. Sponsor/Collaborators

Name of the Sponsor

University Hospital, Strasbourg, France

4. Oversight

5. Study Description

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Bardet-Biedl Syndrome, Orphan Diseases

Keywords

Bardet-Biedl syndrome, retinitis pigmentosa, obesity, genes

7. Study Design

Enrollment

40 (false)

8. Arms, Groups, and Interventions

Intervention Type

Behavioral

Intervention Name(s)

clinical, biological, and radiological

Primary Outcome Measure Information:

Title

Outcome evaluated end 2005 and 2006

Title

Clinical results (natural history, phenotype-genotype correlations, genetic epidemiology, new genes identification

Secondary Outcome Measure Information:

Title

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

10. Eligibility

Sex

All

Minimum Age & Unit of Time

16 Years

Eligibility Criteria

Overall Study Officials: