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

This study has been completed.
Sponsor:
Information provided by:
Nantes University Hospital
ClinicalTrials.gov Identifier:
NCT00422721
First received: January 12, 2007
Last updated: November 23, 2011
Last verified: November 2011
  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: 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

Resource links provided by NLM:


Further study details as provided by Nantes University Hospital:

Estimated Enrollment: 360
Study Start Date: April 2007
  Eligibility

Genders Eligible for Study:   Both
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
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: 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

No publications provided

ClinicalTrials.gov Identifier: NCT00422721     History of Changes
Other Study ID Numbers: BRD 06/8-F, ID RCB 2006-A00192-49
Study First Received: January 12, 2007
Last Updated: November 23, 2011
Health Authority: France: Ministry of Health

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

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

ClinicalTrials.gov processed this record on July 24, 2014