Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy
- Conditions
- AmaurosisRetinal Diseases
- Registration Number
- NCT00422721
- Lead Sponsor
- Nantes University Hospital
- 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 360
- 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
- Familial macular degeneration
- Familial choroid dystrophy
- Non-degenerative retinopathology
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Primary Outcome Measures
Name Time Method
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
CHU de Nantes
🇫🇷Nantes, France