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Protocol Number:
08-EI-0017
- Title:
Evaluation and Treatment Protocol for Potential Research Participants with Inherited Ophthalmic Diseases
- Number:
08-EI-0017
- 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.
- Sponsoring Institute:
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National Eye Institute (NEI)
- Recruitment Detail
- Type:
Participants currently recruited/enrolled
- Gender:
Male & Female
- Referral Letter Required:
No
- Population Exclusion(s):
None
- Eligibility Criteria:
INCLUSION CRITERIA
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.
EXCLUSION CRITERIA
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.
- Special Instructions:
Currently Not Provided
- Keywords:
-
Optic Nerve
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Retina
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Cornea
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Lens
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Ocular Genetic Diseases
- Recruitment Keyword(s):
-
Inherited Eye Disease
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Genetic Eye Disease
- Condition(s):
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Cataract
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Glaucoma
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Retinitis Pigmentosa
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Macular Degeneration
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Strabismus
- Investigational Drug(s):
- None
- Investigational Device(s):
- None
- Intervention(s):
- None
- Supporting Site:
- National Eye Institute
- Contact(s):
-
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 Electronic Mail:prpl@mail.cc.nih.gov
- Citation(s):
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MacDonald IM, Mah DY. Summary of heritable ocular disorders and selected systemic conditions with eye findings. Ophthalmic Genet. 2000 Mar;21(1):29-49. Review.
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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. Review.
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National Institutes of Health Clinical Center
Bethesda, Maryland 20892. Last update: 09/20/2008
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