- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT03662386
Prospective Analysis of "Genotype-phenotype" Correlations Observed in a Large Cohort of Patients With Hereditary Retinal Dystrophies - GEPHIRD (GEPHIRD)
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).
Study Overview
Status
Conditions
Intervention / Treatment
Study Type
Enrollment (Estimated)
Contacts and Locations
Study Contact
- Name: Amélie YAVCHITZ
- Phone Number: +33 14803654
- Email: yavchitz@for.paris
Study Locations
-
-
-
Paris, France, 75019
- Recruiting
- Fondation Ophtalmologique Adolphe de Rothschild
-
Contact:
- Elise BOULANGER SCEMAMA
- Email: eboulanger@for.paris
-
-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
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
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Cohorts and Interventions
Group / Cohort |
Intervention / Treatment |
---|---|
Patients with suspicion of hereditary retinal dystrophy
|
Optical coherence tomography angiography (OCT-A)
Visual acuity tested with ETDRS score (Early Treatment Diabetic Retinopathy Study)
|
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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).
|
Baseline
|
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
|
Baseline
|
Collaborators and Investigators
Investigators
- Principal Investigator: Elise BOULANGER SCEMAMA, Fondation Ophtalmologique A. de Rothschild
Study record dates
Study Major Dates
Study Start (Actual)
Primary Completion (Estimated)
Study Completion (Estimated)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Actual)
Study Record Updates
Last Update Posted (Estimated)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- EBA_2017_21
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
Studies a U.S. FDA-regulated device product
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
Clinical Trials on Hereditary Retinal Dystrophies
-
Fondation Ophtalmologique Adolphe de RothschildRecruitingVision Functional Brain Networks in Patients With Hereditary Retinal DystrophiesFrance
-
Seoul National University HospitalCompletedEye Diseases | Retinal Degeneration | Retinal Diseases | Retinitis Pigmentosa | Eye Disease, HereditaryKorea, Republic of
-
Oxford University Hospitals NHS TrustRecruitingRetinal Degeneration | Retinal Dystrophies | Retinal DiseaseUnited Kingdom
-
Alkeus Pharmaceuticals, Inc.CompletedAge-related Macular Degeneration | Stargardt Disease | Other Retinal Dystrophies
-
National Eye Institute (NEI)RecruitingCone-Rod Degeneration | Rod-Cone DegenerationUnited States, Australia
-
PYC TherapeuticsRecruitingRetinitis Pigmentosa | Eye Diseases, Hereditary | Retinal Dystrophies | Retinal Dystrophy Rod | Retinal Dystrophy Rod ProgressiveUnited States, Australia
-
SparingVisionRecruiting
-
University Hospital, LilleRecruitingMacular Degeneration | Cone Dystrophy | Cone Rod Dystrophy | Retinal Dystrophy, Cone-RodFrance
-
Nanoscope Therapeutics Inc.CompletedEye Diseases | Retinal Degeneration | Retinal Diseases | Retinitis Pigmentosa | Retinitis | Eye Diseases, Hereditary | Retinal DystrophiesUnited States, Puerto Rico
-
Retina Implant AGTerminatedRetinal Degeneration | Inherited Retinal Dystrophy Primarily Involving Sensory RetinaFrance
Clinical Trials on OCT-A
-
Assiut UniversityNot yet recruitingProliferative Diabetic Retinopathy
-
University of ZurichUnknownGlaucoma | CataractSwitzerland
-
Benha UniversityRecruiting
-
Fondation Ophtalmologique Adolphe de RothschildCompletedConcussion | Rugby ProfessionalsFrance
-
University Hospital Inselspital, BerneWithdrawnDiabetic Retinopathy | Retinopathy of Prematurity
-
Zhongshan Ophthalmic Center, Sun Yat-sen UniversityRecruiting
-
China National Center for Cardiovascular DiseasesBeijing Tongren HospitalNot yet recruiting
-
Hospices Civils de LyonCompletedCentral Serous Chorioretinopathy
-
Duke UniversityNational Cancer Institute (NCI); University of North Carolina, Chapel HillCompleted
-
Fondation Ophtalmologique Adolphe de RothschildCompletedStroke | Cerebrovascular AccidentsFrance