Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD (GEPHIRD)

This study will carry out a detailed descriptive analysis of a large population of patients with hereditary retinal dystrophies (HRD): clinical, paraclinical and genetic data.

The information drawn from these analyzes will provide a better understanding of the pathophysiology of these rare diseases and this may ultimately impact the medical management of patients (targeted therapy).

Study Overview

Study Type

Observational

Enrollment (Estimated)

200

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 Locations

      • Paris, France, 75019
        • Recruiting
        • Fondation Ophtalmologique Adolphe de Rothschild
        • Contact:

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

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

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

Patients hospitalized for suspicion of hereditary retinal distrophy

Description

Inclusion Criteria:

  • Patients hospitalized for suspicion of hereditary retinal dystrophy
  • Benefiting as part of the care of a genetic analysis

Exclusion Criteria:

- Patient under a measure of legal 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

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Patients with suspicion of hereditary retinal dystrophy
Optical coherence tomography angiography (OCT-A)
Visual acuity tested with ETDRS score (Early Treatment Diabetic Retinopathy Study)

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Description of the phenotypic characteristics of patients with hereditary retinal dystrophies.
Time Frame: Baseline
Phenotypic diagnosis of the type of retinal dystrophy based on all the examinations performed as part of the usual care and examinations added by the research (OCT-Angiography - Optical coherence tomography, and visual acuity with ETDRS scale : Early Treatment Diabetic Retinal Study, ETDRS).
Baseline
Description of the genotypic characteristics of patients with hereditary retinal dystrophies.
Time Frame: Baseline
Determination of the genetic mutations responsible for retinal dystrophy in order to confirm the phenotypic diagnosis and identify correlation between the phenotypic and genotypic characteristics
Baseline

Collaborators and Investigators

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

Investigators

  • Principal Investigator: Elise BOULANGER SCEMAMA, Fondation Ophtalmologique A. de Rothschild

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)

September 14, 2018

Primary Completion (Estimated)

September 1, 2028

Study Completion (Estimated)

September 1, 2032

Study Registration Dates

First Submitted

August 1, 2018

First Submitted That Met QC Criteria

September 5, 2018

First Posted (Actual)

September 7, 2018

Study Record Updates

Last Update Posted (Estimated)

January 15, 2024

Last Update Submitted That Met QC Criteria

January 12, 2024

Last Verified

January 1, 2024

More Information

Terms related to this study

Other Study ID Numbers

  • EBA_2017_21

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

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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