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

This study is currently recruiting participants. (see Contacts and Locations)
Verified May 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT01145196
First received: June 15, 2010
Last updated: May 9, 2014
Last verified: May 2014
  Purpose

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.

Condition
Genotype
Retinal Disease

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Primary Outcome Measures:
  • The outcome of this study is to identify genetic mutations, starting with those in ABCA4 gene, associated with retinal toxicity in participants with a history of plaquenil use. [ Designated as safety issue: No ]

Estimated Enrollment: 90
Study Start Date: May 2010
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 -induced retinal toxicity and to describe the phenotype of Plaquenil -induced retinal toxicity.

STUDY POPULATION:

The study will enroll thirty patients, 18 years of age or older, found to have Plaquenil -induced retinal toxicity. Sixty volunteers with systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), or Sj(SqrRoot)(Delta)gren s syndrome and history of Plaquenil use, but without evidence of retinal toxicity, will also be recruited.

DESIGN:

The study is an observational study with 1-2 outpatient visits to the NEI clinic or review of medical records for off-site participants. All participants will provide a blood sample for genetic analysis.

OUTCOME MEASURES:

Clinical examination and blood samples will be used for genetic testing and mutation identification. The outcome of this study is to identify genetic mutations, starting with those in ABCA4 gene, associated with retinal toxicity in participants with a history of Plaquenil use.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
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.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01145196

Contacts
Contact: Alana L Temple, R.N. (301) 402-1369 alana.temple@nih.gov
Contact: Catherine A Cukras, M.D. (301) 435-5061 cukrasc@mail.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
United States, Wisconsin
Medical College of Wisconsin Recruiting
Milwaukee, Wisconsin, United States
Sponsors and Collaborators
Investigators
Principal Investigator: Catherine A Cukras, M.D. National Eye Institute (NEI)
  More Information

Additional Information:
Publications:
ClinicalTrials.gov Identifier: NCT01145196     History of Changes
Other Study ID Numbers: 100140, 10-EI-0140
Study First Received: June 15, 2010
Last Updated: May 9, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Retinal Disease
Plaquenil-Induced

Additional relevant MeSH terms:
Retinal Diseases
Eye Diseases
Hydroxychloroquine
Antimalarials
Antiprotozoal Agents
Antiparasitic Agents
Anti-Infective Agents
Therapeutic Uses
Pharmacologic Actions
Enzyme Inhibitors
Molecular Mechanisms of Pharmacological Action
Antirheumatic Agents

ClinicalTrials.gov processed this record on August 28, 2014