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Trial record 5 of 8 for:    Recruiting, Not yet recruiting, Available Studies | "von Hippel-Lindau Disease"

National Eye Institute Biorepository for Retinal Diseases

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ClinicalTrials.gov Identifier: NCT01496625
Recruitment Status : Recruiting
First Posted : December 21, 2011
Last Update Posted : November 24, 2017
Information provided by (Responsible Party):

Study Description
Brief Summary:


- 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.


- To collect health information and blood and tissue samples from people with and without eye diseases, to be used in research studies.


  • Individuals of any age with different types of eye disease.
  • Healthy volunteers with no history of eye disease.


  • 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.

Condition or disease
Age-Related Macular Degeneration Diabetic Retinopathy Von Hippel-Lindau Syndrome Retinal Disease Retinal Vein Occlusion

Detailed Description:

This study establishes a clinical database and biospecimen repository for 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 and diabetic retinopathy, and their associated systemic correlates of disease.

Objectives: This study 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 will be used to identify 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 500 participants with age-related macular degeneration (AMD), 300 participants with diabetic retinopathy, up to 1,000 participants with other retinal diseases, and 500 participants without any retinal disease.

Design: This is a prospective observational study of multiple retinal diseases and suitable controls incorporating:

  1. Standard of care management of eye diseases with a standardized follow-up and testing schedule; and
  2. Collection of biospecimens for research purposes for which sampling does not incur more than minimal risk to participants.

Outcome Measures: Outcome measures 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 Design

Study Type : Observational
Estimated Enrollment : 2300 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: NEI Intramural Biorepository for Retinal Diseases
Study Start Date : December 1, 2011

Groups and Cohorts

Outcome Measures

Primary Outcome Measures :
  1. Interaction of key parameters of phenotype (like visual acuity, retinal features on ocular imaging) with genetic variants and other biomarkers identified from biospecimens; and characterization of new experimental models of eye health and di... [ Time Frame: Ongoing ]

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Participants will be eligible if they:

  1. Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children.
  2. Manifest diagnosed or undiagnosed retinal disease or could serve as an unaffected control.


Participants will not be eligible if they:

  1. Are unable or unwilling to give informed consent that includes collection and study of at least one peripheral blood sample.
  2. Are unable or unwilling to give informed consent that includes use of NIH medical records and clinical samples for research related to vision and diseases affecting the eyes.
  3. Are unable or unwilling to be managed as clinically indicated.
  4. Have a systemic disease that compromises the ability to provide adequate ophthalmologic examination or treatment.

The eligibility requirements for this protocol are intended to be broadly inclusive, but those individuals found to be ineligible may be evaluated under the NEI Screening Protocol (08-EI-0102) for potential participation in other studies. Adults unable to understand and sign an informed consent are excluded from this study because they are frequently unable to cooperate with evaluation and testing in the manner standardized for other adult participants.

Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01496625

Contact: Faith Chen (301) 402-1369 chenfa@nei.nih.gov
Contact: Henry E Wiley, M.D. (301) 451-4260 wileyhe@mail.nih.gov

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Sponsors and Collaborators
National Eye Institute (NEI)
Principal Investigator: Henry E Wiley, M.D. National Eye Institute (NEI)
More Information

Additional Information:
Responsible Party: National Eye Institute (NEI)
ClinicalTrials.gov Identifier: NCT01496625     History of Changes
Other Study ID Numbers: 120042
First Posted: December 21, 2011    Key Record Dates
Last Update Posted: November 24, 2017
Last Verified: November 16, 2017

Keywords provided by National Institutes of Health Clinical Center (CC) ( National Eye Institute (NEI) ):
Biological Specimens
Retinal Disease
Phenotype-Genotype correlation
Age-Related Macular Degeneration (AMD)
Diabetic Retinopathy
Healthy Volunteer

Additional relevant MeSH terms:
Von Hippel-Lindau Disease
Macular Degeneration
Retinal Diseases
Diabetic Retinopathy
Retinal Vein Occlusion
Retinal Degeneration
Eye Diseases
Diabetic Angiopathies
Vascular Diseases
Cardiovascular Diseases
Diabetes Complications
Diabetes Mellitus
Endocrine System Diseases
Venous Thrombosis
Embolism and Thrombosis
Neurocutaneous Syndromes
Nervous System Diseases