Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults
Overview
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.
Full Title of Study: “Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the Adults”
Study Type
- Study Type: Observational
Interventions
- Behavioral: clinical, biological, and radiological
Clinical Trial Outcome Measures
Primary Measures
- Outcome evaluated end 2005 and 2006
- Clinical results (natural history, phenotype-genotype correlations, genetic epidemiology, new genes identification
Secondary Measures
- This study may lead to further clinical investigations according to the results (new protocol to be established) and to further molecular investigations
Participating in This Clinical Trial
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
Gender Eligibility: All
Minimum Age: 16 Years
Maximum Age: N/A
Investigator Details
- Lead Sponsor
- University Hospital, Strasbourg, France
- Overall Official(s)
- Hélène Dollfus, MD, Principal Investigator, Fédération Génétique
- J-Louis Mandel, MD, Principal Investigator, IGBMC
- Pascal Bousquet, MD, Principal Investigator, CIC Strasbourg
- Christian Brandt, MD, Principal Investigator, CIC Strasbourg
- Catherine Arnold, MD, Principal Investigator, CIC Strasbourg
- Alain Verloes, MD, Principal Investigator, Unité de Génétique Robert Debré
- Régis Hanfard, MD, Principal Investigator, CIC Robet Debré
- Didier Lacombe, MD, Principal Investigator, Service de Génétique Médicale/Bordeaux
- Virginie Bernard, MD, Principal Investigator, CIC Bordeaux
- Sylvie Manouvrier, MD, Principal Investigator, Service de Génétique Médicale Lille
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