Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD (GEPHIRD)
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|ClinicalTrials.gov Identifier: NCT03662386|
Recruitment Status : Recruiting
First Posted : September 7, 2018
Last Update Posted : December 11, 2019
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|
|Hereditary Retinal Dystrophies||Procedure: OCT-A Procedure: Visual acuity (ETDRS)|
|Study Type :||Observational|
|Estimated Enrollment :||200 participants|
|Official Title:||Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD|
|Actual Study Start Date :||September 14, 2018|
|Estimated Primary Completion Date :||September 2023|
|Estimated Study Completion Date :||September 2032|
|Patients with suspicion of hereditary retinal dystrophy||
Optical coherence tomography angiography (OCT-A)
Procedure: Visual acuity (ETDRS)
Visual acuity tested with ETDRS score (Early Treatment Diabetic Retinopathy Study)
- Description of the phenotypic characteristics of patients with hereditary retinal dystrophies. [ Time Frame: 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).
- Description of the genotypic characteristics of patients with hereditary retinal dystrophies. [ Time Frame: 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
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03662386
|Contact: Laurence SALOMON||148036431 ext +email@example.com|
|Fondation ophtalmologique Adolphe de Rothschild||Recruiting|
|Paris, France, 75019|
|Contact: Elise BOULANGER SCEMAMA firstname.lastname@example.org|
|Principal Investigator:||Elise BOULANGER SCEMAMA||Fondation Ophtalmologique A. de Rothschild|