NCT01145196 Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene
| NCT ID | NCT01145196 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Eye Institute (NEI) |
| Condition | Genotype |
| Study Type | OBSERVATIONAL |
| Enrollment | 320 participants |
| Start Date | 2010-08-23 |
| Primary Completion | — |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 320 participants in total. It began in 2010-08-23.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
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 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. \<TAB\> 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.
Contact & Investigator
Emily Y Chew, M.D.
PRINCIPAL INVESTIGATOR
National Eye Institute (NEI)
Frequently Asked Questions
Who can join the NCT01145196 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, up to 120 Years, studying Genotype. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT01145196 currently recruiting?
Yes, NCT01145196 is actively recruiting participants. Contact the research team at chenfa@nei.nih.gov for enrollment information.
Where is the NCT01145196 trial being conducted?
This trial is being conducted at Bethesda, United States.
Who is sponsoring the NCT01145196 clinical trial?
NCT01145196 is sponsored by National Eye Institute (NEI). The principal investigator is Emily Y Chew, M.D. at National Eye Institute (NEI). The trial plans to enroll 320 participants.