National Eye Institute Biorepository for Retinal Diseases

June 4, 2026 updated by: National Eye Institute (NEI)

NEI Intramural 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.

Study Overview

Status

Recruiting

Conditions

Detailed Description

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.

Study Type

Observational

Enrollment (Estimated)

650

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Maryland
      • Bethesda, Maryland, United States, 20892
        • Recruiting
        • National Institutes of Health Clinical Center
        • Contact:
          • For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
          • Phone Number: TTY dial 711 800-411-1222
          • Email: ccopr@nih.gov

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

The study accrual goal is 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. Participants may enroll in this study after referral by a medical practitioner in the private sector, or by another clinic, hospital, or medical institution. Participants may enroll in this study concurrently with another NEI or NIH protocol, or following completion of another study. Self-referral will be permitted. Advertisements will not be used.

Description

  • 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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Cohort 1
Participants with age-related macular degeneration (AMD), diabetic retinopathy, and other retinal diseases.
Cohort 2
Participants without any retinal diseases.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Ongoing

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Eye Institute (NEI)

Investigators

  • Principal Investigator: Tiarnan DL Keenan, M.D., National Eye Institute (NEI)

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 18, 2012

Study Registration Dates

First Submitted

December 17, 2011

First Submitted That Met QC Criteria

December 17, 2011

First Posted (Estimated)

December 21, 2011

Study Record Updates

Last Update Posted (Actual)

June 5, 2026

Last Update Submitted That Met QC Criteria

June 4, 2026

Last Verified

March 24, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 120042
  • 12-EI-0042

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

IPD Plan Description

At this point it is undecided whether IPD will be shared.

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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