Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene
|First Received Date ICMJE||June 15, 2010|
|Last Updated Date||May 2, 2017|
|Start Date ICMJE||May 27, 2010|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE
||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. [ Time Frame: 04/12/2015 ]|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT01145196 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene|
|Official Title ICMJE||Genotype-Phenotype Study of Patients With Plaquenil -Induced Retinal Toxicity, With Evaluation of the ABCA4 Gene|
- 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.
- To investigate possible correlations between certain genes or genetic mutations and plaquenil-induced retinal toxicity.
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.
The study will enroll forty-five patients, 18 years of age or older, found to have Plaquenil -induced retinal toxicity. Seventy-five 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.
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.
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.
|Study Type ICMJE||Observational|
|Study Design ICMJE||Observational Model: Cohort
Time Perspective: Prospective
|Target Follow-Up Duration||Not Provided|
|Sampling Method||Not Provided|
|Study Population||Not Provided|
|Intervention ICMJE||Not Provided|
|Study Groups/Cohorts||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||120|
|Completion Date||Not Provided|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
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.
|Ages||18 Years and older (Adult, Senior)|
|Accepts Healthy Volunteers||Yes|
|Listed Location Countries ICMJE||United States|
|Removed Location Countries|
|NCT Number ICMJE||NCT01145196|
|Other Study ID Numbers ICMJE||100140
|Has Data Monitoring Committee||Not Provided|
|U.S. FDA-regulated Product||Not Provided|
|Plan to Share Data||Not Provided|
|IPD Description||Not Provided|
|Responsible Party||National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) )|
|Study Sponsor ICMJE||National Eye Institute (NEI)|
|Collaborators ICMJE||Not Provided|
|PRS Account||National Institutes of Health Clinical Center (CC)|
|Verification Date||April 26, 2017|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP