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

Sponsor
Nantes University Hospital (Other)
Overall Status
Completed
CT.gov ID
NCT00422721
Collaborator
(none)
360
Enrollment
1
Location

Study Details

Study Description

Brief Summary

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.

Condition or Disease Intervention/Treatment Phase
  • Procedure: realization of a family tree
  • Procedure: refractometry
  • Procedure: evaluation of the presence of a nystagmus
  • Procedure: ocular behavior
  • Procedure: test of baby vision
  • Procedure: test of keenness
  • Procedure: reading test
  • Procedure: visual field
  • Procedure: color vision
  • Procedure: electroretinographical activity
  • Procedure: biomicroscopical test
  • Procedure: retinal imaging
  • Procedure: retinal autofluorescence
  • Procedure: genotyping
 N/A

Study Design

Study Type:
Interventional
Anticipated Enrollment :
360 participants
Allocation:
Non-Randomized
Intervention Model:
Single Group Assignment
Masking:
None (Open Label)
Primary Purpose:
Diagnostic
Official Title:
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
Study Start Date :
Apr 1, 2007

Outcome Measures

Primary Outcome Measures

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    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

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 CHU de Nantes Nantes France 44093

    Sponsors and Collaborators

    • 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 Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    , ,
    ClinicalTrials.gov Identifier:
    NCT00422721
    Other Study ID Numbers:
    • BRD 06/8-F
    • ID RCB 2006-A00192-49
    First Posted:
    Jan 17, 2007
    Last Update Posted:
    Nov 24, 2011
    Last Verified:
    Nov 1, 2011
    Keywords provided by , ,
    early severe retinal dystrophy
    amaurosis of leber
    Additional relevant MeSH terms:
    Blindness
    Retinal Diseases
    Retinal Dystrophies

    Study Results

    No Results Posted as of Nov 24, 2011