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


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


  • 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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