Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes

The recruitment status of this study is unknown because the information has not been verified recently.

Verified November 2010 by University Hospital, Montpellier.
Recruitment status was Recruiting

Sponsor:

Collaborator:

Ministry of Health, France

Information provided by:

University Hospital, Montpellier

ClinicalTrials.gov Identifier:

NCT01235624

First received: November 4, 2010

Last updated: NA

Last verified: November 2010

History: No changes posted

Purpose

Identify new genes responsible for autosomal dominant retinitis pigmentosa (ADRP), one of the most common causes of hereditary diseases of the retina, and thus better understand the mechanisms involved of the disease."

Condition	Intervention
Autosomal Dominant Retinitis Pigmentosa	Genetic: genetic analysis

Study Type:	Interventional
Study Design:	Intervention Model: Single Group Assignment Masking: Open Label Primary Purpose: Diagnostic
Official Title:	Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes

Resource links provided by NLM:

Genetics Home Reference related topics: Lenz microphthalmia syndrome oculofaciocardiodental syndrome Peters plus syndrome retinitis pigmentosa X-linked juvenile retinoschisis

U.S. FDA Resources

Further study details as provided by University Hospital, Montpellier:

Estimated Enrollment:	250
Study Start Date:	March 2009
Estimated Study Completion Date:	March 2012
Estimated Primary Completion Date:	March 2011 (Final data collection date for primary outcome measure)

Detailed Description:

Two hundred and fifty samples from unrelated patients, from which 150 were provided by the national reference center of rare disease in Montpellier and 100 recruited in the 9 participating centers over a period of two years."To identify the missing genes, we proceed in two steps. A first step in selecting families negative for the 8 major genes genes, by systematic sequencing of exons most frequently involved. A second step in finding new loci / genes by locus exclusion using microsatellite markers and SNP genotyping.

Eligibility

Ages Eligible for Study:	5 Years to 80 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes

Criteria

Inclusion Criteria:

retinitis pigmentosa diagnosed
Autosomal dominant transmission diagnosed

Exclusion Criteria:

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT01235624

Contacts

Contact: christian HAMEL, Pr Ph.D

+33 4 99 63 60 10

Christian.hamel@inserm.fr

Locations

France
CHRU Montpellier	Recruiting
Montpellier, France
Contact: CHRISTIAN HAMEL, Pr Ph.D +33 4 99 63 60 10 Christian.hamel@inserm.fr

Sponsors and Collaborators

University Hospital, Montpellier

Ministry of Health, France

Investigators

Principal Investigator:	christian HAMEL, Pr Ph.D	Institut National de la Santé Et de la Recherche Médicale, France
Study Chair:	José-Alain SAHEL, Pr	§ Centre hospitalier national d'ophtalmologie des XV-XX, Paris,FRANCE
Study Chair:	Jean Louis DUFIER, Pr	Hopital Necker enfants-malades,Paris,FRANCE
Study Chair:	Hélène DOLLFUS, Pr	CHU de STRASBOURG, FRANCE
Study Chair:	sylvie ODENT, Pr	CHU de RENNES Unité INSERM 598,Paris,FRANCE
Study Chair:	Sabine DEFOORT- DHELEMMES, Ph.D	CHRU de LILLE,FRANCE
Study Chair:	Michel WEBER, Pr	CHU de NANTES,FRANCE
Study Chair:	Xavier ZANLONGH, Ph.D	CLINIQUE SOURDILLE, NANTES,France

More Information

Publications:

Audo I, Manes G, Mohand-Saïd S, Friedrich A, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Zanlonghi X, Hamel CP, Sahel JA, Bhattacharya SS, Zeitz C. Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3687-700. Epub 2010 Feb 17.

Responsible Party:	Christian HAMEL, Pr Ph.D, INSERM
ClinicalTrials.gov Identifier:	NCT01235624 History of Changes
Other Study ID Numbers:	UF 8300, 2008-A01238-47
Study First Received:	November 4, 2010
Last Updated:	November 4, 2010
Health Authority:	France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)

Keywords provided by University Hospital, Montpellier:

Autosomal dominant retinitis pigmentosa
Rare disease
Genetics

Additional relevant MeSH terms:

Retinitis
Retinitis Pigmentosa
Retinal Diseases
Eye Diseases

Eye Diseases, Hereditary
Retinal Dystrophies
Retinal Degeneration
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on May 16, 2013

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