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

StatusRecruiting
PhaseNot specified
Started
View on ClinicalTrials.gov ↗

Record History

The 50 most recent of 406 record versions are accounted for below. See every version on ClinicalTrials.gov ↗

  1. Minor Re-verified, no change to tracked fields
  2. Minor Re-verified, no change to tracked fields
  3. Minor Re-verified, no change to tracked fields
  4. Minor Eligibility criteria expanded, about 9 words
  5. Minor 12 versions Re-verified since May 20, 2026, no change to tracked fieldsv391-v402
Show 34 earlier versionsHide 34 earlier versions
  1. Minor Study Status, Study Description, Eligibilityv390
  2. Minor 19 versions Re-verified since Jul 9, 2025, no change to tracked fieldsv371-v389
  3. Minor Enrollment target: 300 to 320v370
  4. Minor 13 versions Re-verified since Mar 13, 2025, no change to tracked fieldsv357-v369
  • Stopped: an ongoing trial was terminated, suspended or withdrawn.
  • Notable: the trial’s plan changed such as a big move in its timeline or size, a new primary endpoint, sponsor or phase, or recruiting opened or resumed.
  • Minor: routine progress and housekeeping, such as sites added or enrollment closed.
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.
Trial Details
NCT Number NCT01145196
Lead Sponsor National Eye Institute (NEI)
Conditions
(from sponsor)
Genotype, Retinal Disease
Related terms Retinal Diseases
Enrollment 320 participants
Start Date
Updated on ClinicalTrials.gov