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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT01235624
Recruitment Status : Completed
First Posted : November 5, 2010
Last Update Posted : November 6, 2013
Sponsor:
Collaborator:
Ministry of Health, France
Information provided by (Responsible Party):
University Hospital, Montpellier

Study Description
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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."

Condition or disease Intervention/treatment Phase
Autosomal Dominant Retinitis Pigmentosa Genetic: genetic analysis Not Applicable

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 Design
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Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 1161 participants
Allocation: N/A
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes
Study Start Date : March 2009
Actual Primary Completion Date : April 2013
Actual Study Completion Date : April 2013

Resource links provided by the National Library of Medicine


Arms and Interventions
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Arm Intervention/treatment
patient
Patient suffering of adRP that accept to participate at this study have a blood prelevement for genetic analysis (intervention)
 Genetic: genetic analysis


Outcome Measures
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Primary Outcome Measures :
  1. identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP) [ Time Frame: for 5 years ]

Eligibility Criteria
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Ages Eligible for Study:   5 Years to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria

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:

-

Contacts and Locations
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To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01235624


Locations
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France
CHRU Montpellier
Montpellier, France
Sponsors and Collaborators
University Hospital, Montpellier
Ministry of Health, France
Investigators
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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
More Information
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Publications of Results:

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Responsible Party: University Hospital, Montpellier
ClinicalTrials.gov Identifier: NCT01235624    
Other Study ID Numbers: UF 8300
2008-A01238-47
First Posted: November 5, 2010    Key Record Dates
Last Update Posted: November 6, 2013
Last Verified: November 2013
Keywords provided by University Hospital, Montpellier:
Autosomal dominant retinitis pigmentosa
Rare disease
Genetics
Additional relevant MeSH terms:
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Arthrogryposis
Retinitis
Retinitis Pigmentosa
Retinal Diseases
Eye Diseases
Eye Diseases, Hereditary
Retinal Dystrophies
 Retinal Degeneration
Genetic Diseases, Inborn
Joint Diseases
Musculoskeletal Diseases
Muscular Diseases
Musculoskeletal Abnormalities
Congenital Abnormalities