RECRUITING

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

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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. * Both individuals who have and have not developed plaquenil-induced retinal toxicity will be eligible for this study. Design: * The study requires one or two visits to the National Eye Institute or an outpatient study clinic over a maximum 2-year period. * Participants will provide a personal and family medical history, and will have a full eye examination. * Participants will also provide blood samples for testing. * No treatment will be provided as part of this protocol.

Official Title

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

Quick Facts

Study Start:2010-08-23
Study Completion:N/A
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01145196

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:18 Years to 120 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. Affected participants must be 18 years of age or older and have:
  2. * History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) or Sj(SqrRoot)(Delta)gren s syndrome, and
  3. * History of Plaquenil use, and
  4. * Evidence of Plaquenil -induced retinal toxicity, based on clinical findings.
  5. 2. Unaffected volunteers must be 18 years of age or older and have:
  6. * History of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA) or Sj(SqrRoot)(Delta)gren s syndrome, and
  7. * History of Plaquenil use, and
  8. * No retinal disease upon examination within the last six months.
  9. 3. All participants must be able to:
  10. * Provide their own consent, and
  11. * Safely provide a blood sample.
  1. Pregnancy or breastfeeding
  2. Severe psychiatric disorders
  3. Active substance abuse
  4. Unstable medical conditions
  5. Inability to comply with study requirements

Contacts and Locations

Study Contact

Faith F Chen
CONTACT
(301) 402-1369
chenfa@nei.nih.gov
Emily Y Chew, M.D.
CONTACT
(301) 496-6583
echew@nei.nih.gov

Principal Investigator

Emily Y Chew, M.D.
PRINCIPAL_INVESTIGATOR
National Eye Institute (NEI)

Study Locations (Sites)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States

Collaborators and Investigators

Sponsor: National Eye Institute (NEI)

  • Emily Y Chew, M.D., PRINCIPAL_INVESTIGATOR, National Eye Institute (NEI)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2010-08-23
Study Completion DateN/A

Study Record Updates

Study Start Date2010-08-23
Study Completion DateN/A

Terms related to this study

Keywords Provided by Researchers

  • Retinal Disease
  • Plaquenil-Induced
  • Natural History

Additional Relevant MeSH Terms

  • Genotype
  • Retinal Disease