Recruiting

Plaquenil with ABCA4

Sponsor:

National Eye Institute (NEI)

Code:

NCT01145196

Conditions

Genotype

Retinal Disease

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

Study Details

Brief 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

Study ID

NCT01145196

Start date

Aug 23, 2010

Status verified date

Aug 26, 2026

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 18 - 70+

Healthy Volunteers: Not accepted

  • 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.

Study Design

Enrollment

320 participants

Anticipated

Interventions and Outcome Measures

Arms

Affected

Participants affected by Plaquenil induced retinal toxicity

Unaffected

control participants without Plaquenil induced retinal toxicity

Primary outcome measure

  • 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 ]

Central Contacts and Locations

Central contacts

Faith F Chen

(301) 402-1369chenfa@nei.nih.gov

Emily Y Chew, M.D.

(301) 496-6583echew@nei.nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222ccopr@nih.gov

More Information

Sponsor

National Eye Institute (NEI)

Last update posted

Sep 1, 2026

Last verified

Aug 26, 2026

Keywords

  • Retinal Disease
  • Plaquenil-Induced
  • Natural History

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Eye Institute (NEI) on 2026-09-01.