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

Sponsor

University Hospital, Montpellier (Other)

Overall Status

Completed

CT.gov ID

NCT01235624

Collaborator

Ministry of Health, France (Other)

1,161

Enrollment

Location

Arm

Duration (Months)

23.7

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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 or Disease	Intervention/Treatment	Phase
Autosomal Dominant Retinitis Pigmentosa	Genetic: genetic analysis	N/A

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.

Study Design

Study Type:

Interventional

Actual Enrollment :

1161 participants

Allocation:

N/A

Intervention Model:

Single Group Assignment

Masking:

None (Open Label)

Primary Purpose:

Diagnostic

Official Title:

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

Study Start Date :

Mar 1, 2009

Actual Primary Completion Date :

Apr 1, 2013

Actual Study Completion Date :

Apr 1, 2013

Arms and Interventions

Arm	Intervention/Treatment
Other: patient Patient suffering of adRP that accept to participate at this study have a blood prelevement for genetic analysis (intervention)	Genetic: genetic analysis

Arm

Intervention/Treatment

Other: patient

Patient suffering of adRP that accept to participate at this study have a blood prelevement for genetic analysis (intervention)

Genetic: genetic analysis

Outcome Measures

Primary Outcome Measures

identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP) [for 5 years]

Eligibility Criteria

Criteria

Ages Eligible for Study:

5 Years to 80 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

Inclusion Criteria:

retinitis pigmentosa diagnosed
Autosomal dominant transmission diagnosed
Aged from 5 to 80 years
Informed consent
Affiliated or benefit from an insurance regimen

Exclusion Criteria:

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	CHRU Montpellier	Montpellier		France

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
Principal Investigator: Laurence LO OLIVIER-FAIVRE, PH, Centre génétique Médicale - Children Hospital of DIJON