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Protocol Details

Genotype - phenotype Study of Patients with Plaquenil-induced Retinal Toxicity, with Evaluation of the ABCA4 Gene

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

10-EI-0140

Sponsoring Institute

National Eye Institute (NEI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 18
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

Children

Special Instructions

Currently Not Provided

Keywords

Retinal Disease;
Plaquenil-Induced

Recruitment Keyword(s)

Retinal Disease;
Plaquenil-Induced

Condition(s)

Genotype;
Retinal Disease

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Eye Institute

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.

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Eligibility

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.


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Citations:

Levy GD, Munz SJ, Paschal J, Cohen HB, Pince KJ, Peterson T. Incidence of hydroxychloroquine retinopathy in 1,207 patients in a large multicenter outpatient practice. Arthritis Rheum. 1997 Aug;40(8):1482-6.

HOBBS HE, SORSBY A, FREEDMAN A. Retinopathy following chloroquine therapy. Lancet. 1959 Oct 3;2(7101):478-80.

Webster AR, H(SqrRoot)(Copyright)on E, Lotery AJ, Vandenburgh K, Casavant TL, Oh KT, Beck G, Fishman GA, Lam BL, Levin A, Heckenlively JR, Jacobson SG, Weleber RG, Sheffield VC, Stone EM. An analysis of allelic variation in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2001 May;42(6):1179-89.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Catherine A. Cukras, M.D.
National Eye Institute (NEI)
BG 10-CRC RM 3-2531
10 CENTER DR
BETHESDA MD 20814
(301) 435-5061
cukrasc@mail.nih.gov

Anne M. Alvarez, R.N.
National Eye Institute (NEI)
National Institutes of Health
Building 10
Room 10D45
10 Center Drive
Bethesda, Maryland 20892
(301) 496-0097
annemarie.alvarez@nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: 1-866-411-1010
PRPL@cc.nih.gov

Clinical Trials Number:

NCT01145196

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