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Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy

NCT ID: NCT00422721

Last Updated: 2011-11-24

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

360 participants

Study Classification

INTERVENTIONAL

Study Start Date

2007-04-30

Brief Summary

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Retinal dystrophies are responsible for numerous cases of blindness, and there are no therapeutic possibilities today. Gene therapy is efficient in a dog model concerning dystrophy linked to a mutation of the rpe65 gene. If such a therapy is to be considered for humans, it is urgent to select, at a national level, patients suffering from dystrophy linked to a mutation of the rpe65 gene. The systematic correlation of phenotype/genotype is an anatomical-functional approach, but it also identifies patients who may be potentially included in a future gene therapy study. Indeed, identification of people with a mutation of rpe65 is still insufficient in France (compared to other European countries) because of a lack of systemic genotyping of retinal dystrophy.

Detailed Description

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Conditions

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Amaurosis Retinal Diseases

Keywords

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early severe retinal dystrophy amaurosis of leber

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

SINGLE_GROUP

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Interventions

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realization of a family tree

Intervention Type PROCEDURE

refractometry

Intervention Type PROCEDURE

evaluation of the presence of a nystagmus

Intervention Type PROCEDURE

ocular behavior

Intervention Type PROCEDURE

test of baby vision

Intervention Type PROCEDURE

test of keenness

Intervention Type PROCEDURE

reading test

Intervention Type PROCEDURE

visual field

Intervention Type PROCEDURE

color vision

Intervention Type PROCEDURE

electroretinographical activity

Intervention Type PROCEDURE

biomicroscopical test

Intervention Type PROCEDURE

retinal imaging

Intervention Type PROCEDURE

retinal autofluorescence

Intervention Type PROCEDURE

genotyping

Intervention Type PROCEDURE

Eligibility Criteria

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Inclusion Criteria

* Patients with clinical characteristics of amaurosis of Leber
* Patients suffering from an early severe retinal dystrophy
* Patients with social insurance
* Patients with a consent form signed

Exclusion Criteria

* Retinal dystrophy with autosomal dominant transmission
* Retinal dystrophy occuring after 5 years of age
* Syndromical retinal dystrophy with one or more systemic manifestations
* Familial macular degeneration
* Familial choroid dystrophy
* Non-degenerative retinopathology
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Nantes University Hospital

OTHER

Sponsor Role lead

Principal Investigators

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Michel Weber, MD

Role: PRINCIPAL_INVESTIGATOR

Nantes University Hospital

Sabine Defoort, MD

Role: PRINCIPAL_INVESTIGATOR

CHU de Lille

Bernard Puech, MD

Role: PRINCIPAL_INVESTIGATOR

CHU de Lille

Isabelle Drumaré, MD

Role: PRINCIPAL_INVESTIGATOR

CHU de Lille

Christian Hamel, MD

Role: PRINCIPAL_INVESTIGATOR

CHU de Montpellier

Carl Arndt, MD

Role: PRINCIPAL_INVESTIGATOR

CHU de Montpellier

Olivier Roche, MD

Role: PRINCIPAL_INVESTIGATOR

Hôpital Necker

Christophe Orssaud, MD

Role: PRINCIPAL_INVESTIGATOR

Hôpital Necker

Emmanuel Bui Quoc, MD

Role: PRINCIPAL_INVESTIGATOR

Hôpital Necker

Saddek Mohand Saïd, MD

Role: PRINCIPAL_INVESTIGATOR

CNO XV-XX

José-Alain Sael, MD

Role: PRINCIPAL_INVESTIGATOR

CNO XV-XX

Hélène Dollfus-Waltmann, MD

Role: PRINCIPAL_INVESTIGATOR

CHU de Strasbourg

Locations

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CHU de Nantes

Nantes, , France

Site Status

Countries

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France

Other Identifiers

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ID RCB 2006-A00192-49

Identifier Type: -

Identifier Source: secondary_id

BRD 06/8-F

Identifier Type: -

Identifier Source: org_study_id