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

University Hospital, Montpellier1,161 enrolled

Overview

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."

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.

Study Type

INTERVENTIONAL

Allocation

Purpose

DIAGNOSTIC

Masking

NONE

Enrollment

1,161

Conditions

Autosomal Dominant Retinitis Pigmentosa

Interventions

genetic analysisGENETIC

Eligibility

Sex: ALLMin age: 5 YearsMax age: 80 YearsHealthy volunteers:

Medical Language ↔ Plain English

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: \-

Locations (1)

CHRU Montpellier

Montpellier, France

Outcomes

Primary Outcomes

identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP)

Time frame: for 5 years

Data from ClinicalTrials.gov

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