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

University Hospital Center (CHU)

Status: Completed

Conditions: Autosomal Dominant Retinitis Pigmentosa

Treatments: Genetic: genetic analysis

Study type: Interventional

Funder types: Other

Identifiers

NCT01235624

2008-A01238-47

UF 8300

Details and patient eligibility

About

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."

Full 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.

Enrollment: 1,161 patients

Sex: All

Ages: 5 to 80 years old

Volunteers: Accepts Healthy Volunteers

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

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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1,161 participants in 1 patient group

patient

Other group

Description:

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

Treatment:

Genetic: genetic analysis