Potential Research Participants for Future Studies of Inherited Eye Diseases

NCT00559234 | Completed

• 2 other identifiers: 08001708-EI-0017
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

Brief Summary

This study will evaluate potential candidates for future clinical research studies related to diagnosed or undiagnosed genetic eye disorders or diseases. It will not test any new treatments, but it may arrange for standard treatments for existing eye disorders. The purpose of the study is to train eye doctors and medical researchers at the National Institutes of Health in appropriate methods and procedures for treating patients with genetic eye diseases, and to expand the pool of possible participants for future research studies and trials on eye health. Volunteers for this study may be adults and minor children who have been diagnosed with or are at risk for having a genetic eye disease. Candidates may not have any other medical conditions that would interfere with the researchers' ability to perform the examinations and procedures required for this study. Participants will give a complete medical and family history and undergo a series of tests and procedures as part of this research study. The procedures include a full eye examination and vision testing, electrooculography and an electroretinogram to examine the function of the retina, and flourescein angiography to provide information on the flow of blood in the participant's eyes. Participants will provide research material for further studies by giving a blood sample to be held for genetic testing and analysis, and adult participants will also undergo a skin biopsy to provide cell tissue for additional research material. At each clinic visit, participants will receive treatment for their genetic eye disease as needed, including medications or surgical procedures. Participants may remain a part of this study for up to three years.

Conditions

Cataract; Glaucoma; Retinitis Pigmentosa; Macular Degeneration; Strabismus

Keywords

Optic Nerve; Retina; Cornea; Lens; Ocular Genetic Diseases; Inherited Eye Disease; Genetic Eye Disease

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Subjects will be able to enroll if they:
• Have either a diagnosed or undiagnosed genetic eye disease.
• Have the ability to understand and sign an informed consent or have a parent/legal guardian who is able to do so for them.

You may not qualify if:

• Subjects will not be eligible if they:
• Are unwilling or unable to be followed and treated at the NEI Clinical Center.
• Have any systemic diseases that compromise the ability to provide adequate ophthalmologic examination or treatment.

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

Related Publications (2)

• MacDonald IM, Mah DY. Summary of heritable ocular disorders and selected systemic conditions with eye findings. Ophthalmic Genet. 2000 Mar;21(1):29-49.

  PMID: 10779848 BACKGROUND

• MacDonald IM, Haney PM, Musarella MA. Summary of ocular genetic disorders and inherited systemic conditions with eye findings. Ophthalmic Genet. 1998 Mar;19(1):1-17. doi: 10.1076/opge.19.1.1.2181.

  PMID: 9587925 BACKGROUND

MeSH Terms

Conditions

Cataract; Glaucoma; Retinitis Pigmentosa; Macular Degeneration; Strabismus; Corneal Diseases

Condition Hierarchy (Ancestors)

Lens Diseases; Eye Diseases; Ocular Hypertension; Eye Diseases, Hereditary; Retinal Dystrophies; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Ocular Motility Disorders; Cranial Nerve Diseases; Nervous System Diseases

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH

Study Record Dates

• First Submitted: November 15, 2007
• First Posted: November 16, 2007
• Study Start: November 9, 2007
• Study Completion: October 3, 2008
• Last Updated: July 2, 2017

Record last verified: 2008-10-03

Locations

US (1)