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

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

Status

Completed

Phases

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT00422721

Enrollment

360

Registered

2007-01-17

Start date

2007-04-30

Completion date

Unknown

Last updated

2011-11-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Amaurosis, Retinal Diseases

Keywords

early severe retinal dystrophy, amaurosis of leber

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.

Interventions

PROCEDURErealization of a family tree

PROCEDURErefractometry

PROCEDUREevaluation of the presence of a nystagmus

PROCEDUREocular behavior

PROCEDUREtest of baby vision

PROCEDUREtest of keenness

PROCEDUREreading test

PROCEDUREvisual field

PROCEDUREcolor vision

PROCEDUREelectroretinographical activity

PROCEDUREbiomicroscopical test

PROCEDUREretinal imaging

PROCEDUREretinal autofluorescence

PROCEDUREgenotyping

Study design

Allocation

NON_RANDOMIZED

Intervention model

SINGLE_GROUP

Primary purpose

DIAGNOSTIC

Masking

NONE

Eligibility

Sex/Gender

ALL

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

Countries

France

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026