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

NCT ID: NCT00213811

Last Updated: 2008-08-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

40 participants

Study Classification

OBSERVATIONAL

Study Start Date

2003-06-30

Brief Summary

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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.

Detailed Description

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Conditions

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Bardet-Biedl Syndrome Orphan Diseases

Keywords

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Bardet-Biedl syndrome, retinitis pigmentosa, obesity, genes

Interventions

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clinical, biological, and radiological

Intervention Type BEHAVIORAL

Eligibility Criteria

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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
Minimum Eligible Age

16 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University Hospital, Strasbourg, France

OTHER

Sponsor Role lead

Principal Investigators

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Hélène Dollfus, MD

Role: PRINCIPAL_INVESTIGATOR

Fédération Génétique

J-Louis Mandel, MD

Role: PRINCIPAL_INVESTIGATOR

IGBMC

Pascal Bousquet, MD

Role: PRINCIPAL_INVESTIGATOR

CIC Strasbourg

Christian Brandt, MD

Role: PRINCIPAL_INVESTIGATOR

CIC Strasbourg

Catherine Arnold, MD

Role: PRINCIPAL_INVESTIGATOR

CIC Strasbourg

Alain Verloes, MD

Role: PRINCIPAL_INVESTIGATOR

Unité de Génétique Robert Debré

Régis Hanfard, MD

Role: PRINCIPAL_INVESTIGATOR

CIC Robet Debré

Didier Lacombe, MD

Role: PRINCIPAL_INVESTIGATOR

Service de Génétique Médicale/Bordeaux

Virginie Bernard, MD

Role: PRINCIPAL_INVESTIGATOR

CIC Bordeaux

Sylvie Manouvrier, MD

Role: PRINCIPAL_INVESTIGATOR

Service de Génétique Médicale Lille

Locations

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Hélène Dollfus

Strasbourg, , France

Site Status

Countries

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France

Other Identifiers

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2899

Identifier Type: -

Identifier Source: org_study_id