Understanding genetic causes of eye surface disorders
Limbal Stem Cell Deficiency of Genetic Origin: Genotype-phenotype Correlation
This study is trying to find out how certain genetic factors affect the eye problems of people with limbal stem cell deficiency.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 60 (estimated) |
| Sex | All |
| Sponsor | Fondation Ophtalmologique Adolphe de Rothschild Research network |
| Locations | 1 site (Paris) |
| Trial ID | NCT02886611 on ClinicalTrials.gov |
What this trial studies
This observational study investigates the correlation between genetic factors and clinical outcomes in patients suffering from limbal stem cell deficiency due to genetic origins. By analyzing the genotype-phenotype relationship, the study aims to identify specific genetic abnormalities that are linked to severe clinical manifestations. The research is conducted at the Fondation Ophtalmologique Adolphe de Rothschild in Paris, focusing on patients with ocular surface genetic pathologies.
Who should consider this trial
Good fit: Ideal candidates are individuals diagnosed with genetic pathologies affecting the ocular surface.
Not a fit: Patients with conditions like agonal glaucoma or low vision primarily due to retinal issues may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better understanding and management of genetic eye disorders, improving patient outcomes.
How similar studies have performed: While this study focuses on a specific genetic correlation, similar studies have shown promise in understanding genetic influences on other ocular conditions.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * genetic pathology of ocular surface Exclusion Criteria: * Agonal glaucoma * Low vision mostly related to retinal pathology * Pregnant or breast feeding patient
Where this trial is running
Paris
- Fondation Ophtalmologique Adolphe de Rothschild — Paris, France (Recruiting)
Study contacts
- Principal investigator: Anna GEMAHLING, MD — Hôpital Fondation Adolphe de Rothschild
- Study coordinator: Amélie YAVCHITZ, MD, PhD
- Email: ayavchitz@for.paris
- Phone: 0033148036454
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.