Analysis of genetic and clinical data in patients with hereditary retinal dystrophies
Prospective Analysis of "genotype-phenotype" Correlations Observed in a Large Cohort of Patients with Hereditary Retinal Dystrophies - GEPHIRD
This study is trying to understand how genetic information relates to the vision problems in people with hereditary retinal dystrophies to improve their treatment options.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 200 (estimated) |
| Ages | 15 Years and up |
| Sex | All |
| Sponsor | Fondation Ophtalmologique Adolphe de Rothschild Research network |
| Locations | 1 site (Paris) |
| Trial ID | NCT03662386 on ClinicalTrials.gov |
What this trial studies
This observational study aims to analyze a large cohort of patients diagnosed with hereditary retinal dystrophies by collecting detailed clinical, paraclinical, and genetic data. The goal is to establish genotype-phenotype correlations that could enhance the understanding of these rare diseases. By identifying these correlations, the study seeks to inform better medical management and potential targeted therapies for affected patients. The study will utilize advanced imaging techniques like OCT-A and assess visual acuity using the ETDRS scale.
Who should consider this trial
Good fit: Ideal candidates for this study are patients hospitalized with a suspicion of hereditary retinal dystrophy who are undergoing genetic analysis as part of their care.
Not a fit: Patients under legal protection measures may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and targeted treatments for patients with hereditary retinal dystrophies.
How similar studies have performed: While this study focuses on a specific cohort, similar studies analyzing genotype-phenotype correlations in rare diseases have shown promise in improving patient outcomes.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Paris
- Fondation ophtalmologique Adolphe de Rothschild — Paris, France (Recruiting)
Study contacts
- Principal investigator: Elise BOULANGER SCEMAMA — Fondation Ophtalmologique A. de Rothschild
- Study coordinator: Amélie YAVCHITZ
- Email: yavchitz@for.paris
- Phone: 14803654
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.