NCT00647439

Brief Summary

This study will identify genes that are associated with inflammation or degeneration of the retina (membrane lining the back of the eye that relays vision signals to the brain). It is thought that many retinal conditions are due to an altered immune system and are based on how the person s genes function and communicate. People 4 years of age or older who have a retinal condition such as uveitis, age-related macular degeneration or diabetic retinopathy may be eligible for this study. Healthy volunteers and healthy people who have a family member with one of these conditions are also eligible. Patients with inherited retinal degeneration are excluded. Participants undergo the following tests and procedures:

  • Eye examination to assess visual acuity (eye chart test) and eye pressure, and to examine the pupils, lenses, retina and eye movements. Photographs of the inside of the eye may also be taken. The pupils are dilated with drops for this examination.
  • Blood draw for genetic testing. Participants may also undergo one or more of the following tests:
  • Optical coherence tomography. This is a type of photograph of the back of the eye to measure thickness of the retina.
  • Fluorescein angiography and indocyanine green angiography. Pictures of the eye s blood vessels are taken using either a fluorescein or indocyanine green dye. The dye is injected into a vein in an arm and travels to the blood vessels in the eyes. A camera takes pictures of the dye as it flows through the blood vessels.
  • Electroretinogram (ERG) to measure retinal function. The patient sits in a dark room for 30 minutes with his or her eyes patched. Then, a small metal disk electrode is taped to the forehead, the eye patches are removed, the surface of the eye is numbed with eye drops, and contact lenses are placed on the eyes. The patient then watches flashing lights. The contact lenses sense small electrical signals generated by the retina when the light flashes....

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
609

participants targeted

Target at P75+ for all trials

Timeline
Completed

Started Mar 2008

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

March 27, 2008

Completed
1 day until next milestone

First Submitted

Initial submission to the registry

March 28, 2008

Completed
3 days until next milestone

First Posted

Study publicly available on registry

March 31, 2008

Completed
10.7 years until next milestone

Study Completion

Last participant's last visit for all outcomes

December 4, 2018

Completed
Last Updated

December 10, 2018

Status Verified

December 4, 2018

First QC Date

March 28, 2008

Last Update Submit

December 7, 2018

Conditions

Diabetic RetinopathyAge-Related Macular Degeneration (AMD)Uveitis

Keywords

OCULAR INFLAMMATORY DISEASEImmune MediatedGene Expression PatternsDiabetic RetinopathyAge-Related Macular DegenerationAMDUveitis

Eligibility Criteria

Age4 Years+
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • Participants with the following will be recruited:
  • Individuals or family members of individuals with immune mediated retinal disorders, including uveitis, age related macular degeneration, and diabetic retinopathy.
  • Adults must be capable of providing their own consent.
  • All participants must be able to cooperate with study examination and phlebotomy.
  • Children must be older than 4 years of age.

You may not qualify if:

  • Individuals with diseases, infections, or trauma that mimic immune medicated retinal disorders.
  • Children requiring sedation for study procedures.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

  • Becker KG, Simon RM, Bailey-Wilson JE, Freidlin B, Biddison WE, McFarland HF, Trent JM. Clustering of non-major histocompatibility complex susceptibility candidate loci in human autoimmune diseases. Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):9979-84. doi: 10.1073/pnas.95.17.9979.

    PMID: 9707586BACKGROUND

  • Richardson B. Primer: epigenetics of autoimmunity. Nat Clin Pract Rheumatol. 2007 Sep;3(9):521-7. doi: 10.1038/ncprheum0573.

    PMID: 17762851BACKGROUND

  • Carrel L, Willard HF. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature. 2005 Mar 17;434(7031):400-4. doi: 10.1038/nature03479.

    PMID: 15772666BACKGROUND

MeSH Terms

Conditions

Diabetic RetinopathyMacular DegenerationUveitis

Condition Hierarchy (Ancestors)

Retinal DiseasesEye DiseasesDiabetic AngiopathiesVascular DiseasesCardiovascular DiseasesDiabetes ComplicationsDiabetes MellitusEndocrine System DiseasesRetinal DegenerationUveal Diseases

Study Officials

  • Hatice N Sen, M.D.

    National Eye Institute (NEI)

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
OTHER
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 28, 2008

First Posted

March 31, 2008

Study Start

March 27, 2008

Study Completion

December 4, 2018

Last Updated

December 10, 2018

Record last verified: 2018-12-04

Locations

US(1)