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

This study has been completed.
Sponsor:
Information provided by:
University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier:
NCT00213811
First received: September 13, 2005
Last updated: August 7, 2008
Last verified: August 2008
  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

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

No publications provided

ClinicalTrials.gov Identifier: NCT00213811     History of Changes
Other Study ID Numbers: 2899
Study First Received: September 13, 2005
Last Updated: August 7, 2008
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)

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

Additional relevant MeSH terms:
Bardet-Biedl Syndrome
Laurence-Moon Syndrome
Rare Diseases
Hypothalamic Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Disease Attributes
Pathologic Processes

ClinicalTrials.gov processed this record on April 17, 2014