Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes
- Conditions
- Autosomal Dominant Retinitis Pigmentosa
- Interventions
- Genetic: genetic analysis
- Registration Number
- NCT01235624
- Lead Sponsor
- University Hospital, Montpellier
- Brief Summary
Identify new genes responsible for autosomal dominant retinitis pigmentosa (ADRP), one of the most common causes of hereditary diseases of the retina, and thus better understand the mechanisms involved of the disease."
- Detailed Description
Two hundred and fifty samples from unrelated patients, from which 150 were provided by the national reference center of rare disease in Montpellier and 100 recruited in the 9 participating centers over a period of two years."To identify the missing genes, we proceed in two steps. A first step in selecting families negative for the 8 major genes genes, by systematic sequencing of exons most frequently involved. A second step in finding new loci / genes by locus exclusion using microsatellite markers and SNP genotyping.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 1161
- retinitis pigmentosa diagnosed
- Autosomal dominant transmission diagnosed
- Aged from 5 to 80 years
- Informed consent
- Affiliated or benefit from an insurance regimen
Study & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description patient genetic analysis Patient suffering of adRP that accept to participate at this study have a blood prelevement for genetic analysis (intervention)
- Primary Outcome Measures
Name Time Method identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP) for 5 years
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
CHRU Montpellier
🇫🇷Montpellier, France