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

This study has been completed.
Sponsor:
Collaborator:
Ministry of Health, France
Information provided by (Responsible Party):
University Hospital, Montpellier
ClinicalTrials.gov Identifier:
NCT01235624
First received: November 4, 2010
Last updated: November 5, 2013
Last verified: November 2013
  Purpose

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 Intervention
Autosomal Dominant Retinitis Pigmentosa
Genetic: genetic analysis

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Diagnostic
Official Title: Autosomal Dominant Retinitis Pigmentosa: Prevalence of Known Genes Identification of New Loci / Genes

Resource links provided by NLM:


Further study details as provided by University Hospital, Montpellier:

Primary Outcome Measures:
  • identification of unknown loci and genes responsible of Autosomal dominant retinitis pigmentosa (adRP) [ Time Frame: for 5 years ] [ Designated as safety issue: No ]

Enrollment: 1161
Study Start Date: March 2009
Study Completion Date: April 2013
Primary Completion Date: April 2013 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
patient
Patient suffering of adRP that accept to participate at this study have a blood prelevement for genetic analysis (intervention)
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.

  Eligibility

Ages Eligible for Study:   5 Years to 80 Years
Genders Eligible for Study:   Both
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: 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
Study First Received: November 4, 2010
Last Updated: November 5, 2013
Health Authority: France: Afssaps - Agence française de sécurité sanitaire des produits de santé (Saint-Denis)

Keywords provided by University Hospital, Montpellier:
Autosomal dominant retinitis pigmentosa
Rare disease
Genetics

Additional relevant MeSH terms:
Retinitis
Retinitis Pigmentosa
Retinal Diseases
Eye Diseases
Eye Diseases, Hereditary
Retinal Dystrophies
Retinal Degeneration
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on August 28, 2014