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

Retinal Diseases Clinical Trial

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00422721
• Other study ID #: BRD 06/8-F
• Secondary ID: ID RCB 2006-A001
• Status: Completed
• Phase: N/A
• First received: January 12, 2007
• Last updated: November 23, 2011
• Start date: April 2007

Study information

• Verified date: November 2011
• Source: Nantes University Hospital
• Contact: n/a
• Is FDA regulated: No
• Health authority: France: Ministry of Health
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 360
• Accepts healthy volunteers: No
• Gender: Both
• Age group: N/A and older

Eligibility

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 Design

Allocation: Non-Randomized, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic

Related Conditions & MeSH terms

• Amaurosis
• Retinal Diseases
• Retinal Dystrophies

Intervention

Procedure:
• realization of a family tree

• refractometry

• evaluation of the presence of a nystagmus

• ocular behavior

• test of baby vision

• test of keenness

• reading test

• visual field

• color vision

• electroretinographical activity

• biomicroscopical test

• retinal imaging

• retinal autofluorescence

• genotyping

Locations

Country	Name	City	State
France	CHU de Nantes	Nantes

Sponsors (1)

Lead Sponsor	Collaborator
Nantes University Hospital

Country where clinical trial is conducted

France,