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
- Genotype
- Retinal Disease
At a glance
- Phase
- Phase not stated
- Study type
- Observational
- Sponsor
- National Eye Institute (NEI)
- Enrolment target
- 320
- Started
- 23 August 2010
- Main results due
- Not stated
- Study sites
- 1
- Registry updated
- 28 September 2026
Can you take part?
- Ages 18 years to 120 years.
- Open to any sex.
- You need the condition being studied — healthy volunteers are not accepted.
These are the headline rules only. Every study has a longer list, and whether you are eligible is decided by the research team at the site — never by this page.
Read the full eligibility criteria
* 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.
What this study is about
In the sponsor’s own words, from the registry.
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.
Study sites(1)
National Institutes of Health Clinical Center
Bethesda, Maryland, United States
Recruiting
Showing 1 of 1 sites. 1 of the 1 site on this study is recruiting right now — a site can stop enrolling while the study as a whole is still open.
Source: ClinicalTrials.gov record NCT01145196. Trialion does not run this study, is not paid to refer anyone to it, and cannot enrol you. Eligibility is always decided by the research team at the site.
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