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

Recruiting

• Conditions: Hereditary Retinal Dystrophies
• Interventions: Procedure: OCT-A; Procedure: Visual acuity (ETDRS)

• Registration Number: NCT03662386
• Lead Sponsor: Fondation Ophtalmologique Adolphe de Rothschild

Brief Summary

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

Not available

Study Timeline

• Study First Submitted: 2018-08-01
• Study First Submitted QC: 2018-09-05
• Study First Posted: 2018-09-07
• Study Start: 2018-09-14
• Status Verified: 2025-02
• Last Update Submitted: 2025-02-11
• Last Update Posted: 2025-02-13
• Primary Completion: 2028-09
• Study Completion: 2032-09

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 200

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patients with suspicion of hereditary retinal dystrophy	OCT-A	-
Patients with suspicion of hereditary retinal dystrophy	Visual acuity (ETDRS)	-

Primary Outcome Measures

Name	Time	Method
Description of the genotypic characteristics of patients with hereditary retinal dystrophies.	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
Description of the phenotypic characteristics of patients with hereditary retinal dystrophies.	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).

Trial Locations

Locations (1)

Fondation ophtalmologique Adolphe de Rothschild; 🇫🇷 Paris, France