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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00213811
Recruitment Status : Completed
First Posted : September 21, 2005
Last Update Posted : August 8, 2008
Information provided by:
University Hospital, Strasbourg, France

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.

Condition or disease Intervention/treatment
Bardet-Biedl Syndrome Orphan Diseases Behavioral: clinical, biological, and radiological

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Study Type : Observational
Enrollment : 40 participants
Official Title: Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults
Study Start Date : June 2003

Primary Outcome Measures :
  1. Outcome evaluated end 2005 and 2006
  2. Clinical results (natural history, phenotype-genotype correlations, genetic epidemiology, new genes identification

Secondary Outcome Measures :
  1. This study may lead to further clinical investigations according to the results (new protocol to be established) and to further molecular investigations

Information from the National Library of Medicine

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Ages Eligible for Study:   16 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00213811

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Hélène Dollfus
Strasbourg, France
Sponsors and Collaborators
University Hospital, Strasbourg, France
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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
Layout table for additonal information Identifier: NCT00213811    
Other Study ID Numbers: 2899
First Posted: September 21, 2005    Key Record Dates
Last Update Posted: August 8, 2008
Last Verified: August 2008
Keywords provided by University Hospital, Strasbourg, France:
Bardet-Biedl syndrome, retinitis pigmentosa, obesity, genes
Additional relevant MeSH terms:
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Bardet-Biedl Syndrome
Laurence-Moon Syndrome
Rare Diseases
Pathologic Processes
Disease Attributes
Hypothalamic Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Retinitis Pigmentosa
Eye Diseases, Hereditary
Eye Diseases
Abnormalities, Multiple
Congenital Abnormalities
Genetic Diseases, Inborn