Autosomal Dominant Retinitis Pigmentosa
Conditions
Keywords
Autosomal dominant retinitis pigmentosa, Rare disease, Genetics
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.
Interventions
GENETICgenetic analysis
Sponsors
Ministry of Health, France
University Hospital, Montpellier
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
5 Years to 80 Years
Healthy volunteers
Yes
Inclusion criteria
* retinitis pigmentosa diagnosed * Autosomal dominant transmission diagnosed * Aged from 5 to 80 years * Informed consent * Affiliated or benefit from an insurance regimen
Exclusion criteria
\-
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP) | for 5 years |
Countries
France
Outcome results
None listed