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

Hereditary Retinal Dystrophies Clinical Trial

— GEPHIRD  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03662386
• Other study ID #: EBA_2017_21
• Status: Recruiting
• Start date: September 14, 2018
• Est. completion date: September 2032

Study information

• Verified date: January 2024
• Source: Fondation Ophtalmologique Adolphe de Rothschild
• Contact: Amélie YAVCHITZ
• Phone: 14803654
• Email: yavchitz[@]for.paris
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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).

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 200
• Est. completion date: September 2032
• Est. primary completion date: September 2028
• Gender: All
• Age group: 15 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Hereditary Retinal Dystrophies
• Retinal Dystrophies

Intervention

Procedure:
• OCT-A
Optical coherence tomography angiography (OCT-A)
• Visual acuity (ETDRS)
Visual acuity tested with ETDRS score (Early Treatment Diabetic Retinopathy Study)

Locations

Country	Name	City	State
France	Fondation ophtalmologique Adolphe de Rothschild	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Fondation Ophtalmologique Adolphe de Rothschild

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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