Investigating genetic factors in Plaquenil-induced retinal toxicity

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to explore the relationship between genetic mutations, particularly in the ABCA4 gene, and the development of retinal toxicity caused by the medication Plaquenil. It will enroll 100 patients who have experienced retinal toxicity and 200 volunteers who have used Plaquenil without developing toxicity. Participants will undergo clinical examinations and provide blood samples for genetic analysis to identify potential correlations. The study will take place over a maximum of two years with one or two outpatient visits required.

Why it matters

Who can join: the full rules

* 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.

Where it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Emily Y Chew, M.D. — National Eye Institute (NEI)
• Study coordinator: Faith F Chen
• Email: chenfa@nei.nih.gov
• Phone: (301) 402-1369

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.