Back to results

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

Primary Purpose

Autosomal Dominant Retinitis Pigmentosa

Status

Completed

Phase

Not Applicable

Locations

France

Study Type

Interventional

Intervention

genetic analysis

About this trial

This is an interventional diagnostic trial for Autosomal Dominant Retinitis Pigmentosa focused on measuring Autosomal dominant retinitis pigmentosa, Rare disease, Genetics

Eligibility Criteria

5 Years - 80 Years (Child, Adult, Older Adult)All SexesAccepts Healthy Volunteers

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:

Sites / Locations

CHRU Montpellier

Arms of the Study

Arm 1

Arm Type

Other

Arm Label

patient

Arm Description

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

Outcomes

Primary Outcome Measures

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

Secondary Outcome Measures

Full Information

NCT ID

NCT01235624

First Posted

November 4, 2010

Last Updated

November 5, 2013

Sponsor

University Hospital, Montpellier

Collaborators

Ministry of Health, France

1. Study Identification

Unique Protocol Identification Number

NCT01235624

Brief Title

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

Official Title

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

Study Type

Interventional

2. Study Status

Record Verification Date

November 2013

Overall Recruitment Status

Completed

Study Start Date

March 2009 (undefined)

Primary Completion Date

April 2013 (Actual)

Study Completion Date

April 2013 (Actual)

3. Sponsor/Collaborators

Responsible Party, by Official Title

Sponsor

Name of the Sponsor

University Hospital, Montpellier

Collaborators

Ministry of Health, France

4. Oversight

Data Monitoring Committee

Yes

5. 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."

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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study

Autosomal Dominant Retinitis Pigmentosa

Keywords

Autosomal dominant retinitis pigmentosa, Rare disease, Genetics

7. Study Design

Primary Purpose

Diagnostic

Study Phase

Not Applicable

Interventional Study Model

Single Group Assignment

Masking

None (Open Label)

Allocation

N/A

Enrollment

1161 (Actual)

8. Arms, Groups, and Interventions

Arm Title

patient

Arm Type

Other

Arm Description

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

Intervention Type

Genetic

Intervention Name(s)

genetic analysis

Primary Outcome Measure Information:

Title

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

Time Frame

for 5 years

10. Eligibility

Sex

All

Minimum Age & Unit of Time

5 Years

Maximum Age & Unit of Time

80 Years

Accepts Healthy Volunteers

Eligibility 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: -

Overall Study Officials: