RecruitingNCT01145196

Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene

Genotype - Phenotype Study of Patients With Plaquenil-induced Retinal Toxicity


Sponsor

National Eye Institute (NEI)

Enrollment

320 participants

Start Date

Aug 23, 2010

Study Type

OBSERVATIONAL

Conditions

Summary

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.


Eligibility

Min Age: 18 YearsMax Age: 120 Years

Plain Language Summary

Simplified for easier understanding

This study investigates why some patients who take Plaquenil (hydroxychloroquine) — a common medication for lupus, rheumatoid arthritis, and Sjogren's syndrome — develop eye (retinal) toxicity, while others do not. Researchers suspect a particular gene called ABCA4 may play a role. By comparing the genetics of affected and unaffected patients, they hope to identify who is at higher risk and develop better monitoring guidelines. You may be eligible if: - You are 18 years of age or older - You have been diagnosed with lupus (SLE), rheumatoid arthritis, or Sjogren's syndrome - You have taken Plaquenil (hydroxychloroquine) - You either do have Plaquenil-related retinal toxicity (affected group) OR do not have retinal disease (unaffected control group) - You are able to give informed consent and safely provide a blood sample You may NOT be eligible if: - You have another known genetic retinal disease (such as Stargardt disease or cone-rod dystrophy) that existed before your Plaquenil use - You have clinical signs suggesting an underlying genetic retinal condition Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(1)

National Institutes of Health Clinical Center

Bethesda, Maryland, United States

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NCT01145196


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