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

Plain-language summary

This study investigates the relationship between genetic makeup and findings by evaluating the ABCA4 gene in patients who developed retinal damage (eye toxicity) from the drug Plaquenil (hydroxychloroquine). It enrolls people over 18 who used Plaquenil for lupus, rheumatoid arthritis, or Sjögren's syndrome, with or without retinal toxicity. It is an observational (non-phase) study and is currently recruiting.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

National Eye Institute (NEI)

Start date

8/23/2010

Countries

United States

Related genes

Locations

• Bethesda, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

* 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.