National Eye Institute Biorepository for Retinal Diseases

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Brief Title

National Eye Institute Biorepository for Retinal Diseases

Official Title

NEI Intramural Biorepository for Retinal Diseases

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 of any 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:

        1. Defined testing and ocular imaging on a standardized follow-up schedule; and

        2. 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


Primary Outcome

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...


Condition

Age-Related Macular Degeneration


Study Arms / Comparison Groups

 Cohort 1
Description:  Participants with age-related macular degeneration (AMD), diabetic retinopathy, andother retinal diseases.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

650

Start Date

June 18, 2012



Eligibility Criteria

        -  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, 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.
      

Gender

All

Ages

2 Years - N/A

Accepts Healthy Volunteers

No

Contacts

Tiarnan DL Keenan, M.D., (301) 496-0097, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT01496625

Organization ID

120042

Secondary IDs

12-EI-0042

Responsible Party

Sponsor

Study Sponsor

National Eye Institute (NEI)


Study Sponsor

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


Verification Date

May 6, 2021