Trials Sponsors Conditions Drugs Pricing

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-AProcedure: Visual acuity (ETDRS)

Interventions

OCT-AProcedure

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

Age15 Years+

Sexall

Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

Sampling MethodNon-Probability Sample

Study Population

Patients hospitalized for suspicion of hereditary retinal distrophy

You may qualify if:

Patients hospitalized for suspicion of hereditary retinal dystrophy

Sponsors & Collaborators

Fondation Ophtalmologique Adolphe de Rothschild
Research networklead

Study Sites (1)

Fondation ophtalmologique Adolphe de Rothschild

Paris, 75019, France

MeSH Terms

Interventions

Visual Acuity

Intervention Hierarchy (Ancestors)

Vision TestsDiagnostic Techniques, OphthalmologicalDiagnostic Techniques and ProceduresDiagnosisOcular Physiological Phenomena

Study Officials

Elise BOULANGER SCEMAMA
Fondation Ophtalmologique A. de Rothschild
PRINCIPAL INVESTIGATOR

Enrollment

103 participants (actual enrollment reported by the registry).

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

Actual (reported)

Study Stopped

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

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (2)

Study Arms (1)

Patients with suspicion of hereditary retinal dystrophy

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

MeSH Terms

Interventions

Intervention Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

First Submitted

First Posted

Study Start

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (2)

Study Arms (1)

Patients with suspicion of hereditary retinal dystrophy

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (1)

MeSH Terms

Interventions

Intervention Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Source record

Locations