Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes

Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes


Lead Sponsor: University Hospital, Montpellier

Collaborator: Ministry of Health, France

Source 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.

Overall Status Completed
Start Date March 2009
Completion Date April 2013
Primary Completion Date April 2013
Phase N/A
Study Type Interventional
Primary Outcome
Measure Time Frame
identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP) for 5 years
Enrollment 1161

Intervention Type: Genetic

Intervention Name: genetic analysis

Arm Group Label: patient



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:


Gender: All

Minimum Age: 5 Years

Maximum Age: 80 Years

Healthy Volunteers: Accepts Healthy Volunteers

Overall Official
Facility: CHRU Montpellier
Location Countries


Verification Date

November 2013

Responsible Party

Type: Sponsor

Has Expanded Access No
Condition Browse
Number Of Arms 1
Arm Group

Label: patient

Type: Other

Description: Patient suffering of adRP that accept to participate at this study have a blood prelevement for genetic analysis (intervention)

Study Design Info

Allocation: N/A

Intervention Model: Single Group Assignment

Primary Purpose: Diagnostic

Masking: None (Open Label)