Protocol Details

Epigenetics, Molecular Genetics, and Biomarkers of Degenerative and Inflammatory Ocular Diseases

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number	08-EI-0099
Sponsoring Institute	National Eye Institute (NEI)
Recruitment Detail	Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 4 Max Age: N/A
Referral Letter Required	Yes
Population Exclusion(s)	None
Special Instructions	Currently Not Provided
Keywords	Epigenetics; Biomarkers; Uveitis; Age-Related Macular Degeneration (AMD); Diabetic Retinopathy
Recruitment Keyword(s)	Diabetic Retinopathy; Age-Related Macular Degeneration; AMD; Uveitis
Condition(s)	Diabetic Retinopathy; Age-Related Macular Degeneration (AMD); Uveitis
Investigational Drug(s)	None
Investigational Device(s)	None
Intervention(s)	None
Supporting Site	National Eye Institute

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.

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Eligibility

INCLUSION CRITERIA:

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.

EXCLUSION CRITERIA:

-Individuals with diseases, infections, or trauma that mimic immune medicated retinal disorders.

-Children requiring sedation for study procedures.

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Citations:

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.

Richardson B. Primer: epigenetics of autoimmunity. Nat ClinPract Rheumatol. 2007 Sep;3(9):521-7.

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.

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Contacts:

Principal Investigator	Referral Contact	For more information:
Robert B. Nussenblatt, M.D. National Eye Institute (NEI) National Institutes of Health Building 10 Room 10N112 10 Center Drive Bethesda, Maryland 20892 (301) 496-3123 nussenblattr@mail.nih.gov	Dominic Obiyor, R.N. National Eye Institute (NEI) National Institutes of Health Building 10 Room 10D457 10 Center Drive Bethesda, Maryland 20892 (301) 435-4556 dobiyor@mail.nih.gov	Patient Recruitment and Public Liaison Office Building 61 10 Cloister Court Bethesda, Maryland 20892-4754 Toll Free: 1-800-411-1222 TTY: 301-594-9774 (local),1-866-411-1010 (toll free) Fax: 301-480-9793 prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00647439

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