Age-Related Macular DegenerationNCT01496625
National Eye Institute Biorepository for Retinal Diseases
An observational study of Age-Related Macular Degeneration and Diabetic Retinopathy, run by National Eye Institute (NEI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 2 to 120 yearsHealthy volunteers can take part
- Conditions the study is for
- Age-Related Macular Degeneration, Diabetic Retinopathy, Von Hippel-Lindau Syndrome
- How many people
- 650 participants
- Where
- 1 siteUnited States
- Study dates
- 18 Jun 2012to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 to 120 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
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.
Who may be able to join
- 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).
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR), 800-411-1222 ext. TTY dial 711, ccopr@nih.gov
About this study
Official title: 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.
Read more
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.
Read the 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.
- 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
- Medical subject headings
- Macular Degeneration, Diabetic Retinopathy, von Hippel-Lindau Disease, Retinal Diseases, Retinal Vein Occlusion
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Cohort 1 | Participants with age-related macular degeneration (AMD), diabetic retinopathy, and other retinal diseases. | |
| Cohort 2 | Participants without any retinal diseases. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Dec 2011 (estimated)
- Study start18 Jun 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Age-Related Macular DegenerationStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 650 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Eye Institute (NEI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Tiarnan DL Keenan, M.D., Principal investigator, National Eye Institute (NEI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01496625
- Sponsor's protocol ID
- 120042
- Other IDs
- 12-EI-0042
- Status last verified
- 15 Sep 2026
- First submitted
- 17 Dec 2011
- Last updated
- 26 Oct 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: At this point it is undecided whether IPD will be shared.
Study at a glance
From the registry record, last updated by the sponsor on 26 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- NEI Intramural Biorepository for Retinal Diseases
- ClinicalTrials.gov ID
- NCT01496625
- Acronym / sponsor ID
- 120042
- 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
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 650 participants (estimated)
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Study start
- 18 Jun 2012 (actual)
- First posted
- 21 Dec 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Cohort 1 | – | –Participants with age-related macular degeneration (AMD), diabetic retinopathy, and other retinal diseases. |
| Cohort 2 | – | –Participants without any retinal diseases. |
Who may qualify
- Ages
- 2 to 120 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (3 listed)
- 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).
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Oct 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: Undecided. At this point it is undecided whether IPD will be shared.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Tiarnan DL Keenan, M.D. principal investigator
National Eye Institute (NEI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Age-Related Macular Degeneration and Diabetic Retinopathy, run by National Eye Institute (NEI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 26 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Sheena Jose ((301) 402-7635, sheena.jose@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Oct 2026.