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

Tracking Information

First Received Date ^ICMJE

September 13, 2005

Last Updated Date

August 7, 2008

Start Date ^ICMJE

June 2003

Primary Completion Date

Current Primary Outcome Measures ^ICMJE

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

Original Primary Outcome Measures ^ICMJE

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

Change History

Complete list of historical versions of study NCT00213811 on ClinicalTrials.gov Archive Site

Current Secondary Outcome Measures ^ICMJE

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

Original Secondary Outcome Measures ^ICMJE

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

Descriptive Information

Brief Title ^ICMJE

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

Official Title ^ICMJE

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

Brief 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.

Detailed Description

Study Phase

Study Type ^ICMJE

Observational

Study Design ^ICMJE

Condition ^ICMJE

Bardet-Biedl Syndrome
Orphan Diseases

Intervention ^ICMJE

Behavioral: clinical, biological, and radiological

Study Arms / Comparison Groups

Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status ^ICMJE

Completed

Enrollment ^ICMJE

Completion Date

Primary Completion Date

Eligibility Criteria ^ICMJE

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

Both

Ages

16 Years and older

Accepts Healthy Volunteers

Contacts ^ICMJE

Contact information is only displayed when the study is recruiting subjects

Location Countries ^ICMJE

France

Administrative Information

NCT ID ^ICMJE

NCT00213811

Responsible Party

Study ID Numbers ^ICMJE

2899

Study Sponsor ^ICMJE

University Hospital, Strasbourg, France

Collaborators ^ICMJE

Investigators ^ICMJE

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

Information Provided By

University Hospital, Strasbourg, France

Verification Date

August 2008

^ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP