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

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ClinicalTrials.gov Identifier: NCT01235624
Recruitment Status : Completed
First Posted : November 5, 2010
Last Update Posted : November 6, 2013
Sponsor:
Collaborator:
Information provided by (Responsible Party):

Study Description
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
Autosomal Dominant Retinitis Pigmentosa Genetic: genetic analysis

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

Study Type : Interventional  (Clinical Trial)
Actual Enrollment : 1161 participants
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
Primary Completion Date : April 2013
Study Completion Date : April 2013


Arms and Interventions

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

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

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years to 80 Years   (Child, Adult, Senior)
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

Information from the National Library of Medicine

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
France
CHRU Montpellier
Montpellier, France
Sponsors and Collaborators
University Hospital, Montpellier
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
More Information

Publications:
Responsible Party: University Hospital, Montpellier
ClinicalTrials.gov Identifier: NCT01235624     History of Changes
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:
Retinitis
Retinitis Pigmentosa
Cone-Rod Dystrophies
Retinal Diseases
Eye Diseases
Eye Diseases, Hereditary
Retinal Dystrophies
Retinal Degeneration
Genetic Diseases, Inborn