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

November 5, 2013 updated by: University Hospital, Montpellier
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."

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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.

Study Type

Interventional

Enrollment (Actual)

1161

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Montpellier, France
        • CHRU Montpellier

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

5 years to 80 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Description

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:

-

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Diagnostic
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: patient
Patient suffering of adRP that accept to participate at this study have a blood prelevement for genetic analysis (intervention)
Genetic: genetic analysis

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP)
Time Frame: for 5 years
for 5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Montpellier

Collaborators

Ministry of Health, France

Investigators

  • Principal Investigator: christian HAMEL, Pr Ph.D, Institut National de la Santé Et de la Recherche Médicale, France
  • Study Chair: José-Alain SAHEL, Pr, § Centre hospitalier national d'ophtalmologie des XV-XX, Paris,FRANCE
  • Study Chair: Jean Louis DUFIER, Pr, Hopital Necker enfants-malades,Paris,FRANCE
  • Study Chair: Hélène DOLLFUS, Pr, CHU de STRASBOURG, FRANCE
  • Study Chair: sylvie ODENT, Pr, CHU de RENNES Unité INSERM 598,Paris,FRANCE
  • Study Chair: Sabine DEFOORT- DHELEMMES, Ph.D, CHRU de LILLE,FRANCE
  • Study Chair: Michel WEBER, Pr, CHU de NANTES,FRANCE
  • Study Chair: Xavier ZANLONGH, Ph.D, CLINIQUE SOURDILLE, NANTES,France
  • Principal Investigator: Laurence LO OLIVIER-FAIVRE, PH, Centre génétique Médicale - Children Hospital of DIJON

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

March 1, 2009

Primary Completion (Actual)

April 1, 2013

Study Completion (Actual)

April 1, 2013

Study Registration Dates

First Submitted

November 4, 2010

First Submitted That Met QC Criteria

November 4, 2010

First Posted (Estimate)

November 5, 2010

Study Record Updates

Last Update Posted (Estimate)

November 6, 2013

Last Update Submitted That Met QC Criteria

November 5, 2013

Last Verified

November 1, 2013

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • UF 8300
  • 2008-A01238-47

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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