Status:
RECRUITING
Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene
Lead Sponsor:
National Eye Institute (NEI)
Conditions:
Genotype
Retinal Disease
Eligibility:
All Genders
18-120 years
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 ca...
Detailed Description
OBJECTIVE: The objective of this study is to investigate whether there is a correlation between genetic mutations, beginning with an analysis of ABCA4, and Plaquenil(R)-induced retinal toxicity and t...
Eligibility Criteria
Inclusion
- INCLUSION CRITERIA:
- 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.
- 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.
- 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.
Exclusion
Key Trial Info
Start Date :
August 23 2010
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
Estimated Enrollment :
320 Patients enrolled
Trial Details
Trial ID
NCT01145196
Start Date
August 23 2010
Last Update
January 8 2026
Active Locations (1)
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1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892