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

November 23, 2011 updated by: Nantes University Hospital

Genetical, Multi-center, Prospective Study of Phenotyping and Genotyping of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy in the Aim of the Realisation of a Clinical Trial of Gene Therapy

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Anticipated)

360

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Nantes, France, 44093
        • CHU de Nantes

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: Non-Randomized
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Nantes University Hospital

Investigators

  • Principal Investigator: Michel Weber, MD, CHU de Nantes
  • Principal Investigator: Sabine Defoort, MD, CHU de Lille
  • Principal Investigator: Bernard Puech, MD, CHU de Lille
  • Principal Investigator: Isabelle Drumaré, MD, CHU de Lille
  • Principal Investigator: Christian Hamel, MD, CHU de Montpellier
  • Principal Investigator: Carl Arndt, MD, CHU de Montpellier
  • Principal Investigator: Olivier Roche, MD, Hôpital Necker
  • Principal Investigator: Christophe Orssaud, MD, Hôpital Necker
  • Principal Investigator: Emmanuel Bui Quoc, MD, Hôpital Necker
  • Principal Investigator: Saddek Mohand Saïd, MD, CNO XV-XX
  • Principal Investigator: José-Alain Sael, MD, CNO XV-XX
  • Principal Investigator: Hélène Dollfus-Waltmann, MD, CHU de Strasbourg

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

April 1, 2007

Study Registration Dates

First Submitted

January 12, 2007

First Submitted That Met QC Criteria

January 12, 2007

First Posted (Estimate)

January 17, 2007

Study Record Updates

Last Update Posted (Estimate)

November 24, 2011

Last Update Submitted That Met QC Criteria

November 23, 2011

Last Verified

November 1, 2011

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • BRD 06/8-F
  • ID RCB 2006-A00192-49

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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