Investigating genetic factors in Plaquenil-induced retinal toxicity

Genotype - Phenotype Study of Patients With Plaquenil-induced Retinal Toxicity

This study is trying to see if certain genetic changes in people can help explain why some patients develop eye problems from the medication Plaquenil while others do not.

Quick facts

• Study type: Observational
• Enrollment: 320 (estimated)
• Ages: 18 Years to 120 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (NIH)
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT01145196 on ClinicalTrials.gov

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.

Who should consider this trial

Good fit: Ideal candidates include individuals aged 18 and older with a history of systemic lupus erythematosus, rheumatoid arthritis, or Sjögren's syndrome who have used Plaquenil.

Not a fit: Patients with other known genetic retinal diseases or those without a history of Plaquenil use will not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to better understanding and prevention of retinal toxicity in patients using Plaquenil.

How similar studies have performed: While this study focuses on a specific genetic correlation, similar studies have shown promise in understanding drug-induced toxicity through genetic analysis.

Eligibility criteria

-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 Sj(SqrRoot)(Delta)gren s syndrome, and
   * History of Plaquenil use, and
   * Evidence of Plaquenil -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 Sj(SqrRoot)(Delta)gren s syndrome, and
   * History of Plaquenil 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:

1\. 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 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 this trial is running

Bethesda, Maryland

• 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

Conditions Genotype; Retinal Disease; Plaquenil-Induced; Natural History