Clinical Implication of Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing. (RP-SEQ-HD)

April 19, 2022 updated by: University Hospital, Strasbourg, France

Clinical Implication of the Molecular Diagnostic Retinitis Pigmentosa Molecular Diagnostic Using High Throughput Sequencing (RP-SEQ-HD)

The retinitis pigmentosa (RP) are genetic conditions that cause retinal degeneration leading to severe low vision and is the leading cause of consultation in reference centers dedicated to the ophthalmic genetics. These rare diseases are characterized by a triple heterogeneity (clinical, genetic and molecular), which made them unreachable by traditional molecular diagnostic sequencing technology by the large number of genes to be tested (> 190).

The advent of high-throughput sequencing (NGS) and targeted capture has opened unexpected possibilities of investigation and ultimately to improve the care of patients. This project aims to study the genetic and molecular epidemiology of an interregional french (grand EST) cohort of patients. Patients receive a detailed retinal phenotype (visual acuity, visual field, photographs of the fundus and ERG). Their DNA will be analyzed by NGS targets the 190 known genes (https://sph.uth.edu/retnet/).

This research will provide a molecular epidemiological cohort study compared to prior publications on the frequency of genes involved. The benefit for patients is important to: establish a mode of transmission of the disease and optimize genetic counseling (currently very empirical); establish phenotype-genotype correlations in the French population (very few studies to date) and from the data of international literature; identify patients likely to be included in future therapeutic protocols of research; identify patients with significant potential for future projects to identify new genes.

The primary purpose of the protocol is to use high throughput sequencing to identify pathogenic variants in genes involved in RP.

The secondary purposes will be the following:

  • Determining the diagnostic yield
  • Study the genotype-phenotype correlation.

The secondary purposes will be the following:

  • Determining the diagnostic yield
  • Study the genotype-phenotype correlation

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Anticipated)

500

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • France
      • Dijon, France, 21000
        • Not yet recruiting
        • Service d'Ophtalmologie CHU Hôpital Général
        • Contact:
        • Principal Investigator:
          • Catherine CREUZOT-GARCHER, MD
        • Sub-Investigator:
          • Alain BRON, MD
      • Reims, France, 51092
        • Not yet recruiting
        • Service d'Ophtalmologie, Hôpital Robert Debré, CHR
        • Contact:
        • Principal Investigator:
          • Carl ARNDT, MD
        • Sub-Investigator:
          • Dominique GAILLARD, MD
      • Strasbourg, France, 67091
        • Recruiting
        • Affections Rares en Génétique Ophtalmologique (CARGO) Hôpital Civil, Hôpitaux Universitaires de Strasbourg
        • Contact:
        • Contact:
        • Principal Investigator:
          • Hélène DOLLFUS, MD
        • Sub-Investigator:
          • Yaumara PERDOMO, MD
      • Vandoeuvre Les Nancy, France, 54500
        • Not yet recruiting
        • Service d'Ophtalmologie, CHU BRABOIS
        • Contact:
        • Principal Investigator:
          • Karine ANGIOI-DUPREZ, MD
        • Sub-Investigator:
          • Bruno LEHEUP, MD
        • Sub-Investigator:
          • Philippe JONVEAUX, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Patients with an RP and/or having a family history of RP

Description

Inclusion Criteria:

  • Subject of both sex, aged at least 2 years, being diagnosed with an RP, and/or having a family history of RP
  • Informed about the results of the preliminary medical visit, or which (s) holder (s) parental authority or the guardian / curator has (have) was (been) informed
  • Informed consent signed
  • Affiliation to the French health system

Exclusion Criteria:

  • The patient does not want to participate to the protocol
  • Intercurrent diseases do not allow the practice of tests provided for this protocol
  • Phenocopy
  • Subject excluded or being excluded by another protocol
  • Subject in emergency case
  • Subject under judicial protection

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Number of patients with a deleterious mutation
Time Frame: 18 months
18 months

Secondary Outcome Measures

Outcome Measure
Time Frame
Percentage of positive diagnostic
Time Frame: 18 months
18 months
Number of gene with a genotype-phenotype correlation
Time Frame: 18 months
18 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Strasbourg, France

Investigators

  • Principal Investigator: Hélène DOLLFUS, MD, Hôpitaux Universitaires de Strasbourg

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 3, 2015

Primary Completion (Anticipated)

August 1, 2025

Study Completion (Anticipated)

August 1, 2025

Study Registration Dates

First Submitted

August 1, 2016

First Submitted That Met QC Criteria

August 4, 2016

First Posted (Estimate)

August 9, 2016

Study Record Updates

Last Update Posted (Actual)

April 20, 2022

Last Update Submitted That Met QC Criteria

April 19, 2022

Last Verified

April 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 5724

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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