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

• Sponsor: Fondation Ophtalmologique Adolphe de Rothschild (Other)
• Overall Status: Recruiting
• CT.gov ID: NCT03662386
• Collaborator: (none)
• Enrollment: 200
• Location: 1
• Anticipated Duration (Months): 167.6
• Patients Per Site Per Month: 1.2

Study Details

Study Description

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).

Condition or Disease	Intervention/Treatment	Phase
Hereditary Retinal Dystrophies	Procedure: OCT-A; Procedure: Visual acuity (ETDRS)

Study Design

• Study Type: Observational
• Anticipated Enrollment: 200 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD
• Actual Study Start Date: Sep 14, 2018
• Anticipated Primary Completion Date: Sep 1, 2023
• Anticipated Study Completion Date: Sep 1, 2032

Arms and Interventions

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

Outcome Measures

Primary Outcome Measures

1. 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).

2. 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

Eligibility Criteria

Criteria

• Ages Eligible for Study: 15 Years and Older
• Sexes Eligible for Study: All

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

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	Fondation ophtalmologique Adolphe de Rothschild	Paris		France	75019

Sponsors and Collaborators

• Fondation Ophtalmologique Adolphe de Rothschild

Investigators

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

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: Fondation Ophtalmologique Adolphe de Rothschild
• ClinicalTrials.gov Identifier: NCT03662386
• Other Study ID Numbers: EBA_2017_21
• First Posted: Sep 7, 2018
• Last Update Posted: Dec 20, 2021
• Last Verified: Dec 1, 2021

• Individual Participant Data (IPD) Sharing Statement: Undecided
• Plan to Share IPD: Undecided
• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Keywords provided by Fondation Ophtalmologique Adolphe de Rothschild: hereditary retinal dystrophies
• Additional relevant MeSH terms: Retinal Dystrophies

Study Results

No Results Posted as of Dec 20, 2021