National Eye Institute Biorepository for Retinal Diseases

NCT01496625 | Recruiting

• 2 other identifiers: 12004212-EI-0042
• Study Type: observational
• Target: 650
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

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

Keywords

Biological Specimens; Retinal Disease; Diabetic Retinopathy; Phenotype-Genotype correlation; Age-Related Macular Degeneration (AMD); Natural History; AMD; Healthy Volunteer; HV

Outcome Measures

Primary Outcomes (1)

• 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.

  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

Study Arms (2)

Cohort 1

Participants with age-related macular degeneration (AMD), diabetic retinopathy, and other retinal diseases.

Cohort 2

Participants without any retinal diseases.

Eligibility Criteria

• Age: 2 Years - 120 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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).

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Macular Degeneration; Diabetic Retinopathy; von Hippel-Lindau Disease; Retinal Diseases; Retinal Vein Occlusion

Condition Hierarchy (Ancestors)

Retinal Degeneration; Eye Diseases; Diabetic Angiopathies; Vascular Diseases; Cardiovascular Diseases; Diabetes Complications; Diabetes Mellitus; Endocrine System Diseases; Neurocutaneous Syndromes; Nervous System Diseases; Angiomatosis; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Venous Thrombosis; Thrombosis; Embolism and Thrombosis

Study Officials

• Tiarnan DL Keenan, M.D.

  National Eye Institute (NEI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Sheena Jose

CONTACT

(301) 402-7635; sheena.jose@nih.gov

Tiarnan DL Keenan, M.D.

CONTACT

(301) 451-6330; tiarnan.keenan@nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 17, 2011
• First Posted: December 21, 2011
• Study Start: June 18, 2012
• Last Updated: March 31, 2026

Record last verified: 2026-03-24

Locations

US (1)