Actively Recruiting
Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene
Led by National Eye Institute (NEI) · Updated on 2026-05-07
320
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: \- Plaquenil (hydroxychloroquine) is an anti-inflammatory drug that is used to treat some autoimmune diseases such as lupus and rheumatoid arthritis. This drug can damage the retina by causing a condition called plaquenil-induced retinal toxicity, which may lead to vision loss. However, most people taking plaquenil do not develop this problem. Researchers are interested in studying whether differences in a person s genes explain why some people develop plaquenil-induced retinal toxicity while others do not. Objectives: \- To investigate possible correlations between certain genes or genetic mutations and plaquenil-induced retinal toxicity. Eligibility: * Individuals at least 18 years of age who have previously used plaquenil. * Both individuals who have and have not developed plaquenil-induced retinal toxicity will be eligible for this study. Design: * The study requires one or two visits to the National Eye Institute or an outpatient study clinic over a maximum 2-year period. * Participants will provide a personal and family medical history, and will have a full eye examination. * Participants will also provide blood samples for testing. * No treatment will be provided as part of this protocol.
CONDITIONS
Official Title
Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participants must be 18 years of age or older.
- Participants must have a history of systemic lupus erythematosus, rheumatoid arthritis, or Sjogren's syndrome.
- Participants must have a history of Plaquenil use.
- Participants with retinal toxicity must have clinical evidence of Plaquenil-induced retinal toxicity.
- Participants without retinal toxicity must have no retinal disease upon examination within the last six months.
- Participants must be able to provide their own consent.
- Participants must be able to safely provide a blood sample.
You will not qualify if you...
- Participants with other known genetic retinal diseases such as Stargardt's disease or cone or cone-rod dystrophy diagnosed before Plaquenil use are excluded.
- Participants with clinical findings suggesting a genetic retinal diagnosis, like parafoveal or macular flecks associated with Stargardt's disease or fundus flavimaculatus, are excluded.
AI-Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
F
Faith F Chen
CONTACT
E
Emily Y Chew, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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