National Eye Institute Biorepository for Retinal Diseases

Study Overview
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Brief Summary
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Background: - To understand diseases of the retina and the eye, information is needed about people with and without such diseases. Researchers want to study these people and follow them over time. They also want to study body tissues and blood to understand the nature of eye disease. Studying genes, cells, and tissues may help them understand why some people get eye problems and others do not, or why some people respond to treatment while others do not. Researchers want to collect physical samples and personal data to develop a National Eye Institute database. Objectives: - To collect health information and blood and tissue samples from people with and without eye diseases, to be used in research studies. Eligibility: Individuals of any age with different types of eye disease. Healthy volunteers with no history of eye disease. Design: Participants may be recruited from National Eye Institute studies or may be referred from other sources. Participants will be screened with a physical exam and medical history. They will also have a full eye exam. Questions will be asked about family medical history, especially about eye disease. Blood samples will be collected. Other samples, such as saliva, tears, hair, stool, and urine, may be collected as needed. Adult participants may also provide a skin sample. Tissue or fluid from eye collected as part of eye care or treatment may also be added to the database. No treatment will be provided as part of this study.

Detailed Description
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This protocol establishes a clinical database and biospecimen repository for potential use in subsequent research projects approved by the NIH IRB, such as the identification of novel factors relevant to the pathogenesis, progression, and response to treatment of a variety of retinal conditions, particularly age-related macular degeneration (AMD) and diabetic retinopathy and their associated systemic correlates of disease. Objectives: This protocol provides for standardized collection of longitudinal clinical data and for serial collection, processing, and storage of a variety of biospecimens. The clinical data set and biospecimen repository may be used in subsequent potential research studies for purposes including identification of novel genetic factors, biomarkers, and experimental models associated with pathogenesis, progression, and response to treatment for various conditions of the retina and their associated systemic correlates of disease. Study Population: We plan to accrue up to 200 participants with AMD, 125 participants with diabetic retinopathy, 200 participants with other retinal diseases, and 125 participants without any retinal disease. A total of up to 650 participants may be enrolled. Design: This protocol is designed around prospective observation of multiple retinal diseases and suitable controls incorporating: Defined testing and ocular imaging on a standardized follow-up schedule; and Collection of biospecimens for research purposes for which sampling does not incur more than minimal risk to participants. Outcome Measures: Potential outcome measures for subsequent studies using this data set may include the interaction of key parameters of phenotype (such as visual acuity and retinal features on ocular imaging) with genetic variants and other biomarkers identified from biospecimens, and the characterization of new experimental models of eye health and disease.

Official Title
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NEI Intramural Biorepository for Retinal Diseases

Conditions
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Age-Related Macular Degeneration, Diabetic Retinopathy, Von Hippel-Lindau Syndrome, Retinal Disease, Retinal Vein Occlusion

Participation Criteria
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Eligibility Criteria
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INCLUSION CRITERIA: Participants will be eligible if they: Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children. Manifest diagnosed or undiagnosed retinal disease(s), or could serve as an unaffected control suitable for comparison to participants with various retinal diseases, particularly AMD and diabetic retinopathy (taking into account matching factors such as age and past ocular history). EXCLUSION CRITERIA: Participants will not be eligible if they: Are unable or unwilling to give informed consent that includes collection and study of at least one peripheral blood sample. Are unable or unwilling to give informed consent that includes use of NIH medical records and clinical samples for research. Have a systemic disease that compromises the ability to provide adequate ophthalmologic examination or treatment.

Ages Eligible for Study
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Minimum Age: 2 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Cohort 1<br>Participants with age-related macular degeneration (AMD), diabetic retinopathy, and other retinal diseases. | |
| Cohort 2<br>Participants without any retinal diseases. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Interaction of key parameters of phenotype with genetic variants, and characterization of new experimental models of eye health and disease. | Potential outcome measures for subsequent studies using this data set may include the interaction of key parameters of phenotype (such as visual acuity and retinal features on ocular imaging) with genetic variants and other biomarkers identified from biospecimens, and the characterization of new experimental models of eye health and disease. | Ongoing | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Biological Specimens, Retinal Disease, Diabetic Retinopathy, Phenotype-Genotype correlation, Age-Related Macular Degeneration (AMD), Natural History, AMD, Healthy Volunteer, HV