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OpenTrials
Completed

NCT Number: NCT01235624

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

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."

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Key information

Conditions

Autosomal Dominant Retinitis Pigmentosa Disease Attributes Pathologic Processes Pathological Conditions, Signs and Symptoms Rare Diseases

Age range

5 year–80 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

CHRU Montpellier

Montpellier, France

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

-

Treatment and study plan

Genetic analysis

Genetic

Primary outcomes

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

    Time frame: for 5 years

Sponsors and collaborators

Lead sponsor

University Hospital, Montpellier

Other

Collaborators

  • Ministry of Health, France

Registry information

Important dates

Study start
2009
Primary completion
2013
Study completion
2013
First posted
Nov 5, 2010
Registry last updated
Nov 6, 2013

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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