NCT01145196 · National Eye Institute (NEI)
Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene
What this study 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.
View original scientific description
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. * History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), or Sjogren's syndrome. * Both individuals who have and have not developed Plaquenil-induced retinal toxicity will be eligible for this study. Design: * The study requires five annual outpatient visits to the NIH Clinical Center. * Participants will provide a personal and family medical history, and will have a full eye examination. * Participants will also provide blood samples for genetic analysis, including whole exome and whole genome sequencing. * No treatment will be provided as part of this protocol.
Primary outcome measures
The outcome of this study is to identify genetic mutations, starting with those in ABCA4 gene, associated with retinal toxicity in participants with a history of plaquenil use.
Time frame: annually for five years
The outcome of this study is to identify genetic mutations, starting with those in ABCA4 gene, associated with retinal toxicity in participants with a history of plaquenil use.
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- 1\. Affected participants must be 18 years of age or older and have:
- History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) or Sjogren's syndrome, and
- History of Plaquenil(R) use, and
- Evidence of Plaquenil(R)-induced retinal toxicity, based on clinical findings. 2\. Unaffected volunteers must be 18 years of age or older and have:
- History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) or Sjogren's syndrome, and
- History of Plaquenil(R) use, and
- No retinal disease upon examination within the last six months. 3\. All participants must be able to:
- Provide their own consent, and
- Safely provide a blood sample. \<TAB\>
Exclusion criteria
- Participants with other known (genetic) retinal disease including but not limited to: Stargardt's disease and cone or cone-rod dystrophy whose diagnosis preceded their Plaquenil(R) use. Participants with no known previous genetic diagnosis but with clinical findings associated with a genetic diagnosis, such as parafoveal or macular flecks which are associated with Stargardt's disease or fundus flavimaculatus, will also be excluded.
Where
- Bethesda, Maryland
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
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How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Jul 14, 2026 · Source of record for eligibility and locations