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

This study has been completed.

Sponsored by:	University Hospital, Strasbourg, France
Information provided by:	University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier:	NCT00213811

Purpose

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.

Condition	Intervention
Bardet-Biedl Syndrome Orphan Diseases	Behavioral: clinical, biological, and radiological

MedlinePlus related topics: Obesity Obesity in Children

U.S. FDA Resources

Study Type:	Observational
Official Title:	Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults

Further study details as provided by University Hospital, Strasbourg, France:

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

Estimated Enrollment:	40
Study Start Date:	June 2003

Eligibility

Ages Eligible for Study:	16 Years and older
Genders Eligible for Study:	Both

Criteria

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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00213811

Locations

France
Hélène Dollfus
Strasbourg, France

Sponsors and Collaborators

University Hospital, Strasbourg, France

Investigators

Principal Investigator:	Hélène Dollfus, MD	Fédération Génétique
Principal Investigator:	J-Louis Mandel, MD	IGBMC
Principal Investigator:	Pascal Bousquet, MD	CIC Strasbourg
Principal Investigator:	Christian Brandt, MD	CIC Strasbourg
Principal Investigator:	Catherine Arnold, MD	CIC Strasbourg
Principal Investigator:	Alain Verloes, MD	Unité de Génétique Robert Debré
Principal Investigator:	Régis Hanfard, MD	CIC Robet Debré
Principal Investigator:	Didier Lacombe, MD	Service de Génétique Médicale/Bordeaux
Principal Investigator:	Virginie Bernard, MD	CIC Bordeaux
Principal Investigator:	Sylvie Manouvrier, MD	Service de Génétique Médicale Lille

More Information

Study ID Numbers:	2899
Study First Received:	September 13, 2005
Last Updated:	August 7, 2008
ClinicalTrials.gov Identifier:	NCT00213811
Health Authority:	France: Afssaps - French Health Products Safety Agency

Keywords provided by University Hospital, Strasbourg, France:

Bardet-Biedl syndrome, retinitis pigmentosa, obesity, genes

Study placed in the following topic categories:

Pigmentary retinopathy
Hypothalamic Diseases
Obesity
Bardet-Biedl Syndrome
Cone rod dystrophy
Retinitis Pigmentosa

Abnormalities, Multiple
Rare Diseases
Retinitis
Central Nervous System Diseases
Congenital Abnormalities
Brain Diseases

Additional relevant MeSH terms:

Disease Attributes
Pathologic Processes
Disease
Syndrome
Nervous System Diseases

ClinicalTrials.gov processed this record on January 14, 2009