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

NCT ID: NCT01235624

Last Updated: 2013-11-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

1161 participants

Study Classification

INTERVENTIONAL

Study Start Date

2009-03-31

Study Completion Date

2013-04-30

Brief Summary

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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."

Detailed Description

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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.

Conditions

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Autosomal Dominant Retinitis Pigmentosa

Keywords

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Autosomal dominant retinitis pigmentosa Rare disease Genetics

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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patient

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

Group Type OTHER

genetic analysis

Intervention Type GENETIC

Interventions

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genetic analysis

Intervention Type GENETIC

Eligibility Criteria

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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

\-
Minimum Eligible Age

5 Years

Maximum Eligible Age

80 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Ministry of Health, France

OTHER_GOV

Sponsor Role collaborator

University Hospital, Montpellier

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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christian HAMEL, Pr Ph.D

Role: PRINCIPAL_INVESTIGATOR

Institut National de la Santé Et de la Recherche Médicale, France

José-Alain SAHEL, Pr

Role: STUDY_CHAIR

§ Centre hospitalier national d'ophtalmologie des XV-XX, Paris,FRANCE

Jean Louis DUFIER, Pr

Role: STUDY_CHAIR

Hopital Necker enfants-malades,Paris,FRANCE

Hélène DOLLFUS, Pr

Role: STUDY_CHAIR

CHU de STRASBOURG, FRANCE

sylvie ODENT, Pr

Role: STUDY_CHAIR

CHU de RENNES Unité INSERM 598,Paris,FRANCE

Sabine DEFOORT- DHELEMMES, Ph.D

Role: STUDY_CHAIR

CHRU de LILLE,FRANCE

Michel WEBER, Pr

Role: STUDY_CHAIR

CHU de NANTES,FRANCE

Xavier ZANLONGH, Ph.D

Role: STUDY_CHAIR

CLINIQUE SOURDILLE, NANTES,France

Laurence LO OLIVIER-FAIVRE, PH

Role: PRINCIPAL_INVESTIGATOR

Centre génétique Médicale - Children Hospital of DIJON

Locations

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CHRU Montpellier

Montpellier, , France

Site Status

Countries

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France

References

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Audo I, Manes G, Mohand-Said 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. doi: 10.1167/iovs.09-4766. Epub 2010 Feb 17.

Reference Type RESULT
PMID: 20164459 (View on PubMed)

Other Identifiers

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2008-A01238-47

Identifier Type: -

Identifier Source: secondary_id

UF 8300

Identifier Type: -

Identifier Source: org_study_id