Recruiting

NCT Number: NCT01496625

National Eye Institute Biorepository for Retinal Diseases

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 at least 2 years of 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.

Recruiting

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Key information

Conditions

Age-Related Macular Degeneration Abnormalities, Multiple Angiomatosis Cardiovascular Diseases Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Diabetes Complications Diabetes Mellitus Diabetic Angiopathies Diabetic Retinopathy Embolism and Thrombosis Endocrine System Diseases Eye Diseases Genetic Diseases, Inborn Macular Degeneration Nervous System Diseases Neurocutaneous Syndromes Retinal Degeneration Retinal Disease Retinal Diseases Retinal Vein Occlusion Thrombosis Vascular Diseases Venous Thrombosis Von Hippel-Lindau Syndrome von Hippel-Lindau Disease

Age range

2 year–120 year

Sex eligibility

All sexes

Study type

Observational

Primary location

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

Location status: Recruiting

Location contact

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

CONTACT

[email protected]

800-411-1222 ext. TTY dial 711

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

The intent is to collect data on a variety of phenotypic parameters and to store biospecimens in a manner that permits a broad array of potential testing and experimentation in the future.

Time frame: Ongoing

In subsequent potential studies (dependent on separate IRB approval in each case), the outcome measures of the clinical data and samples from this protocol might include: (i) key parameters of phenotype from ophthalmic evaluation, such as visual acuity and aspects of ocular disease status documented by fundus imaging modalities like color photography, autofluorescence photography, and optical coherence tomography (OCT); (ii) other biomarkers identified from biospecimens.

Study contacts

Contact information is provided by the study sponsor or research team.

Sheena Jose

CONTACT

[email protected]

(301) 402-7635

Tiarnan DL Keenan, M.D.

CONTACT

[email protected]

(301) 451-6330

Sponsors and collaborators

Lead sponsor

National Eye Institute (NEI)

Nih

Registry information

Official study title

NEI Intramural Biorepository for Retinal Diseases

Important dates

Study start: 2012
First posted: Dec 21, 2011
Registry last updated: Jun 30, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed