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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 20, 2021
Sponsor:
Information provided by (Responsible Party):
Fondation Ophtalmologique Adolphe de Rothschild

Study Description
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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
Hereditary Retinal Dystrophies Procedure: OCT-A Procedure: Visual acuity (ETDRS)

Study Design
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Study Type : Observational
Estimated 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 : September 14, 2018
Estimated Primary Completion Date : September 2023
Estimated Study Completion Date : September 2032
Groups and Cohorts
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Group/Cohort 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
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Primary Outcome Measures :
  1. 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).

  2. 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


Eligibility Criteria
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Ages Eligible for Study:   15 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population
Patients hospitalized for suspicion of hereditary retinal distrophy
Criteria

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
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Information from the National Library of Medicine

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


Contacts
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Contact: Laurence SALOMON 148036431 ext +33 lsalomon@for.paris

Locations
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France
Fondation ophtalmologique Adolphe de Rothschild Recruiting
Paris, France, 75019
Contact: Elise BOULANGER SCEMAMA       eboulanger@for.paris   
Sponsors and Collaborators
Fondation Ophtalmologique Adolphe de Rothschild
Investigators
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Principal Investigator: Elise BOULANGER SCEMAMA Fondation Ophtalmologique A. de Rothschild
More Information
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Responsible Party: Fondation Ophtalmologique Adolphe de Rothschild
ClinicalTrials.gov Identifier: NCT03662386    
Other Study ID Numbers: EBA_2017_21
First Posted: September 7, 2018    Key Record Dates
Last Update Posted: December 20, 2021
Last Verified: December 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided

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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:
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Retinal Dystrophies
Retinal Degeneration
Retinal Diseases
Eye Diseases