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

This study has been completed.
Information provided by:
University Hospital, Strasbourg, France Identifier:
First received: September 13, 2005
Last updated: August 7, 2008
Last verified: August 2008
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

Ages Eligible for Study:   16 Years and older   (Child, Adult, Senior)
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
  Contacts and Locations
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Please refer to this study by its identifier: NCT00213811

Hélène Dollfus
Strasbourg, France
Sponsors and Collaborators
University Hospital, Strasbourg, France
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 Identifier: NCT00213811     History of Changes
Other Study ID Numbers: 2899
Study First Received: September 13, 2005
Last Updated: August 7, 2008

Keywords provided by University Hospital, Strasbourg, France:
Bardet-Biedl syndrome, retinitis pigmentosa, obesity, genes

Additional relevant MeSH terms:
Bardet-Biedl Syndrome
Rare Diseases
Pathologic Processes
Hypothalamic Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Disease Attributes processed this record on August 18, 2017