Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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COMPLETED
2164 participants
OBSERVATIONAL
2008-06-25
2017-07-12
Brief Summary
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People with diagnosed or undiagnosed eye disease and first-degree relatives of people with a genetic or developmental eye disease may be eligible for this study. Participants are evaluated and treated in the National Eye Institute. Blood or other tissue samples (e.g., urine, stool, hair, saliva or cheek swab) may be collected for future laboratory studies.
Detailed Description
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Objectives: The primary objective of this protocol is to provide a reservoir of patients for enrollment into new research protocols throughout the NEI laboratories. Evaluating and treating participants will allow the NEI specialists to maintain their expertise and gain additional knowledge of the course of various eye disorders. The information obtained will allow for the evaluation of standard treatments of the studied eye diseases. This understanding may lead to ideas for future protocols. In some cases, blood or other biologic samples (including tear fluid, urine, saliva, hair, stool or a cheek swab) will be obtained for future laboratory studies.
Study Population: The number of participants to be enrolled has no logical upper limit, but will be set to 5,000 patients with ocular diseases and their unaffected first-degree relatives.
Design: This is an observational natural history study of multiple ocular diseases and their progression and physiology.
Outcome Measures: No formal outcomes will be measured; however the clinical assessments of enrolled participants can be used to measure the response to standard treatment. In addition, DNA samples obtained may be used to identify and verify causative mutations, which may help establish pathogenic mechanisms and genotype-phenotype correlations.
Conditions
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Keywords
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Study Design
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OTHER
Eligibility Criteria
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Inclusion Criteria
* Have either a diagnosed or undiagnosed eye disease, OR are an unaffected first-degree relative of a participant with a genetic or developmental eye disease.
* Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children.
Exclusion Criteria
* Are unable or unwilling to give informed consent.
* Are unwilling or unable to be followed as clinically indicated.
* Have a systemic disease that compromises the ability to provide adequate ophthalmologic examination or treatment.
ALL
No
Sponsors
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National Eye Institute (NEI)
NIH
Responsible Party
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Principal Investigators
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Rachel J Bishop, M.D.
Role: PRINCIPAL_INVESTIGATOR
National Eye Institute (NEI)
Locations
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National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States
Countries
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Other Identifiers
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08-EI-0169
Identifier Type: -
Identifier Source: secondary_id
080169
Identifier Type: -
Identifier Source: org_study_id