Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government.
Read our disclaimer for details.
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.
Condition or disease
Procedure: realization of a family treeProcedure: refractometryProcedure: evaluation of the presence of a nystagmusProcedure: ocular behaviorProcedure: test of baby visionProcedure: test of keennessProcedure: reading testProcedure: visual fieldProcedure: color visionProcedure: electroretinographical activityProcedure: biomicroscopical testProcedure: retinal imagingProcedure: retinal autofluorescenceProcedure: genotyping
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study:
Child, Adult, Senior
Sexes Eligible for Study:
Accepts Healthy Volunteers:
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
Retinal dystrophy with autosomal dominant transmission
Retinal dystrophy occuring after 5 years of age
Syndromical retinal dystrophy with one or more systemic manifestations