NCT01235624

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."

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1,161

participants targeted

Target at P75+ for not_applicable

Timeline
Completed

Started Mar 2009

Longer than P75 for not_applicable

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

March 1, 2009

Completed
1.7 years until next milestone

First Submitted

Initial submission to the registry

November 4, 2010

Completed
1 day until next milestone

First Posted

Study publicly available on registry

November 5, 2010

Completed
2.4 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

April 1, 2013

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

April 1, 2013

Completed
Last Updated

November 6, 2013

Status Verified

November 1, 2013

Enrollment Period

4.1 years

First QC Date

November 4, 2010

Last Update Submit

November 5, 2013

Conditions

Autosomal Dominant Retinitis Pigmentosa

Keywords

Autosomal dominant retinitis pigmentosaRare diseaseGenetics

Outcome Measures

Primary Outcomes (1)

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

    for 5 years

Study Arms (1)

patient

OTHER

Patient suffering of adRP that accept to participate at this study have a blood prelevement for genetic analysis (intervention)

Genetic: genetic analysis

Interventions

genetic analysisGENETIC
patient

Eligibility Criteria

Age5 Years - 80 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • retinitis pigmentosa diagnosed
  • Autosomal dominant transmission diagnosed
  • Aged from 5 to 80 years
  • Informed consent
  • Affiliated or benefit from an insurance regimen

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

CHRU Montpellier

Montpellier, France

Location

Related Publications (1)

  • Audo I, Manes G, Mohand-Said S, Friedrich A, Lancelot ME, Antonio A, Moskova-Doumanova V, Poch O, Zanlonghi X, Hamel CP, Sahel JA, Bhattacharya SS, Zeitz C. Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3687-700. doi: 10.1167/iovs.09-4766. Epub 2010 Feb 17.

    PMID: 20164459RESULT

MeSH Terms

Conditions

Rare Diseases

Interventions

Genetic Testing

Condition Hierarchy (Ancestors)

Disease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Clinical Laboratory TechniquesDiagnostic Techniques and ProceduresDiagnosisInvestigative TechniquesGenetic TechniquesGenetic ServicesHealth ServicesHealth Care Facilities Workforce and ServicesDiagnostic ServicesPreventive Health Services

Study Officials

  • christian HAMEL, Pr Ph.D

    Institut National de la Santé Et de la Recherche Médicale, France

    PRINCIPAL INVESTIGATOR

  • 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

    STUDY CHAIR

  • Laurence LO OLIVIER-FAIVRE, PH

    Centre génétique Médicale - Children Hospital of DIJON

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
not applicable
Allocation
NA
Masking
NONE
Purpose
DIAGNOSTIC
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

November 4, 2010

First Posted

November 5, 2010

Study Start

March 1, 2009

Primary Completion

April 1, 2013

Study Completion

April 1, 2013

Last Updated

November 6, 2013

Record last verified: 2013-11

Locations

FR(1)