About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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.

History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) or Sjogren's syndrome, and

Disqualifiers

None

Trial population

The study will enroll 100 patients, 18 years of age or older, found to have Plaquenil -induced retinal toxicity. 200 volunteers with systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), or Sjogren's syndrome and history of Plaquenil use, but without evidence of retinal toxicity, will also be recruited.

Trial design

Design model

Cohort

Time perspective

Cross-sectional

Treatments tested in this trial

Not listed

Trial groups

320 Participants

are grouped into 2 trial groups

Group A: Affected

Group B: Unaffected

Trial outcomes

Primary outcomes

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.

Time frame

annually for five years

Secondary outcomes

1

The secondary outcome of this study is to determine the utility of various testing metrics in evaluating the presence of retinal toxicity.