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Clinical Trial 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.


Clinical Trial Description

The National Eye Institute is conducting a study to evaluate participants with either diagnosed or undiagnosed genetic conditions who may be eligible and wish to participate in other NEI clinical research studies. The primary purpose of this evaluation and treatment protocol is to provide a resource of patients for specific new research protocols and for staff and fellowship training. A secondary purpose is to provide long-term follow-up and treatment for a variety of genetic eye diseases so that the genetic specialists at NEI will be better able to identify research hypotheses for these diseases, which may lead to ideas for future protocols. Finally, the ability to provide long-term follow-up and care will also facilitate referral efforts for new NEI protocols. As a by-product of this research activity, the participants will help the investigators to maintain their clinical skills. ;


Study Design


Related Conditions & MeSH terms


NCT number NCT00559234
Study type Observational
Source National Institutes of Health Clinical Center (CC)
Contact
Status Completed
Phase N/A
Start date November 9, 2007
Completion date October 3, 2008

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