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

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00422721
First Posted: January 17, 2007
Last Update Posted: November 24, 2011
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by:
Nantes University Hospital
  Purpose
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 Intervention
Amaurosis Retinal Diseases 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

Study Type: Interventional
Study Design: 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

Further study details as provided by Nantes University Hospital:

Estimated Enrollment: 360
Study Start Date: April 2007
  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Criteria

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
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00422721


Locations
France
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
  More Information

ClinicalTrials.gov Identifier: NCT00422721     History of Changes
Other Study ID Numbers: BRD 06/8-F
ID RCB 2006-A00192-49
First Submitted: January 12, 2007
First Posted: January 17, 2007
Last Update Posted: November 24, 2011
Last Verified: November 2011

Keywords provided by Nantes University Hospital:
early severe retinal dystrophy
amaurosis of leber

Additional relevant MeSH terms:
Retinal Diseases
Blindness
Retinal Dystrophies
Eye Diseases
Vision Disorders
Sensation Disorders
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Retinal Degeneration