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

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00213811
First Posted: September 21, 2005
Last Update Posted: August 8, 2008
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.
Information provided by:
University Hospital, Strasbourg, France
  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

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

Resource links provided by NLM:


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

Information from the National Library of Medicine

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Ages Eligible for Study:   16 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
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
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 ClinicalTrials.gov identifier (NCT number): 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

ClinicalTrials.gov Identifier: NCT00213811     History of Changes
Other Study ID Numbers: 2899
First Submitted: September 13, 2005
First Posted: September 21, 2005
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:
Syndrome
Rare Diseases
Bardet-Biedl Syndrome
Disease
Pathologic Processes
Disease Attributes
Hypothalamic Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities


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