NCT00422721

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
• Phase: N/A
• Study type: Interventional
• Enrollment: 360 (estimated)
• Sponsor: Nantes University Hospital · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Amaurosis
• Retinal Diseases

Interventions

Type	Name	Description
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

Timeline

• Start date: 2007-04-01
• First posted: 2007-01-17
• Last updated: 2011-11-24

Locations

1 site across 1 country: France