Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of… (NCT01145196) | Clinical Trial Compass
RecruitingNot Applicable
Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene
United States320 participantsStarted 2010-08-23
Plain-language 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.
* 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.
Who can participate
Age range
18 Years – 120 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
* 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.
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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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
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.