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

NCT ID: NCT03662386

Last Updated: 2025-12-10

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

TERMINATED

Total Enrollment

103 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-09-14

Study Completion Date

2025-03-14

Brief Summary

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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).

Detailed Description

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Conditions

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Hereditary Retinal Dystrophies

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Patients with suspicion of hereditary retinal dystrophy

OCT-A

Intervention Type PROCEDURE

Optical coherence tomography angiography (OCT-A)

Visual acuity (ETDRS)

Intervention Type PROCEDURE

Visual acuity tested with ETDRS score (Early Treatment Diabetic Retinopathy Study)

Interventions

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OCT-A

Optical coherence tomography angiography (OCT-A)

Intervention Type PROCEDURE

Visual acuity (ETDRS)

Visual acuity tested with ETDRS score (Early Treatment Diabetic Retinopathy Study)

Intervention Type PROCEDURE

Eligibility Criteria

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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
Minimum Eligible Age

15 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Fondation Ophtalmologique Adolphe de Rothschild

NETWORK

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Elise BOULANGER SCEMAMA

Role: PRINCIPAL_INVESTIGATOR

Fondation Ophtalmologique A. de Rothschild

Locations

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Fondation ophtalmologique Adolphe de Rothschild

Paris, , France

Site Status

Countries

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France

Other Identifiers

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EBA_2017_21

Identifier Type: -

Identifier Source: org_study_id

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