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

NCT01145196 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 320

Last updated 2026-05-22

No results posted yet for this study

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.

Conditions

  • Genotype
  • Retinal Disease

Sponsors & Collaborators

  • National Eye Institute (NEI)

    lead NIH

Principal Investigators

  • Emily Y Chew, M.D. · National Eye Institute (NEI)

Eligibility

Min Age
18 Years
Max Age
120 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2010-08-23

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01145196 on ClinicalTrials.gov