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

August 7, 2008 updated by: University Hospital, Strasbourg, France

Bardet-Biedl Syndrome: Clinical and Genetic Epidemiology Study in the 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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment

40

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Strasbourg, France
        • Hélène Dollfus

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

16 years and older (ADULT, OLDER_ADULT, CHILD)

Accepts Healthy Volunteers

N/A

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Outcome evaluated end 2005 and 2006
Clinical results (natural history, phenotype-genotype correlations, genetic epidemiology, new genes identification

Secondary Outcome Measures

Outcome Measure
This study may lead to further clinical investigations according to the results (new protocol to be established) and to further molecular investigations

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

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

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

June 1, 2003

Study Registration Dates

First Submitted

September 13, 2005

First Submitted That Met QC Criteria

September 13, 2005

First Posted (ESTIMATE)

September 21, 2005

Study Record Updates

Last Update Posted (ESTIMATE)

August 8, 2008

Last Update Submitted That Met QC Criteria

August 7, 2008

Last Verified

August 1, 2008

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2899

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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