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

NCT00213811 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 40

Last updated 2008-08-08

No results posted yet for this study

Summary

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.

Conditions

Interventions

BEHAVIORAL

clinical, biological, and radiological

Sponsors & Collaborators

  • University Hospital, Strasbourg, France

    lead OTHER

Principal Investigators

  • Hélène Dollfus, MD · Fédération Génétique

  • J-Louis Mandel, MD · IGBMC

  • Pascal Bousquet, MD · CIC Strasbourg

  • Christian Brandt, MD · CIC Strasbourg

  • Catherine Arnold, MD · CIC Strasbourg

  • Alain Verloes, MD · Unité de Génétique Robert Debré

  • Régis Hanfard, MD · CIC Robet Debré

  • Didier Lacombe, MD · Service de Génétique Médicale/Bordeaux

  • Virginie Bernard, MD · CIC Bordeaux

  • Sylvie Manouvrier, MD · Service de Génétique Médicale Lille

Eligibility

Min Age
16 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2003-06-30

Countries

  • France

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00213811 on ClinicalTrials.gov