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OpenTrials
Completed

NCT Number: NCT00422721

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

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.

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Key information

Conditions

Amaurosis Blindness Eye Diseases Nervous System Diseases Neurologic Manifestations Pathological Conditions, Signs and Symptoms Retinal Degeneration Retinal Diseases Retinal Dystrophies Sensation Disorders Signs and Symptoms Vision Disorders

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

CHU de Nantes

Nantes, 44093, France

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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

Procedure

Sponsors and collaborators

Lead sponsor

Nantes University Hospital

Other

Registry information

Official study 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

Important dates

Study start
2007
First posted
Jan 17, 2007
Registry last updated
Nov 24, 2011

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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