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

Nantes University Hospital (NUH)

Status: Completed

Conditions: Amaurosis; Retinal Diseases

Treatments: Procedure: retinal imaging; Procedure: genotyping; Procedure: ocular behavior; Procedure: reading test; Procedure: test of baby vision; Procedure: biomicroscopical test; Procedure: realization of a family tree; Procedure: retinal autofluorescence; Procedure: test of keenness; Procedure: electroretinographical activity; Procedure: refractometry; Procedure: evaluation of the presence of a nystagmus; Procedure: visual field; Procedure: color vision

Study type: Interventional

Funder types: Other

Identifiers

NCT00422721

BRD 06/8-F

ID RCB 2006-A00192-49

Details and patient eligibility

About

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.

Enrollment: 360 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Single Group Assignment

Masking: None (Open label)