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

NCT03662386 | Terminated

• 1 other identifier: EBA_2017_21
• Study Type: observational
• Target: 103
• Locations: 1 country
• Sites: 1

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).

Conditions

Hereditary Retinal Dystrophies

Keywords

hereditary retinal dystrophies

Outcome Measures

Primary Outcomes (2)

• Description of the phenotypic characteristics of patients with hereditary retinal dystrophies.

  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.

  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

Study Arms (1)

Patients with suspicion of hereditary retinal dystrophy

Procedure: OCT-A; Procedure: Visual acuity (ETDRS)

Interventions

OCT-A PROCEDURE

Optical coherence tomography angiography (OCT-A)

Patients with suspicion of hereditary retinal dystrophy

Visual acuity (ETDRS) PROCEDURE

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

Patients with suspicion of hereditary retinal dystrophy

Eligibility Criteria

• Age: 15 Years+
• Sex: all
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients hospitalized for suspicion of hereditary retinal distrophy

You may qualify if:

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

You may not qualify if:

• \- Patient under a measure of legal protection

Sponsors & Collaborators

• Fondation Ophtalmologique Adolphe de Rothschild: lead

Study Sites (1)

Fondation ophtalmologique Adolphe de Rothschild

Paris, 75019, France

Location

MeSH Terms

Interventions

Visual Acuity

Intervention Hierarchy (Ancestors)

Vision Tests; Diagnostic Techniques, Ophthalmological; Diagnostic Techniques and Procedures; Diagnosis; Ocular Physiological Phenomena

Study Officials

• Elise BOULANGER SCEMAMA

  Fondation Ophtalmologique A. de Rothschild

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NETWORK
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 1, 2018
• First Posted: September 7, 2018
• Study Start: September 14, 2018
• Primary Completion: March 14, 2025
• Study Completion: March 14, 2025
• Last Updated: December 10, 2025

Record last verified: 2025-12

Locations

FR (1)