Potential Research Participants for Future Studies of Inherited Eye Diseases

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00559234
First received: November 15, 2007
Last updated: October 4, 2008
Last verified: October 2008
  Purpose

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.


Condition
Cataract
Glaucoma
Retinitis Pigmentosa
Macular Degeneration
Strabismus

Study Type: Observational
Study Design: Time Perspective: Prospective
Official Title: Evaluation and Treatment Protocol for Potential Research Participants With Inherited Ophthalmic Diseases

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 400
Study Start Date: November 2007
Estimated Study Completion Date: October 2008
Detailed 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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00559234

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
  More Information

Publications:
ClinicalTrials.gov Identifier: NCT00559234     History of Changes
Other Study ID Numbers: 080017, 08-EI-0017
Study First Received: November 15, 2007
Last Updated: October 4, 2008
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Optic Nerve
Retina
Cornea
Lens
Ocular Genetic Diseases
Inherited Eye Disease
Genetic Eye Disease

Additional relevant MeSH terms:
Eye Diseases
Glaucoma
Macular Degeneration
Retinitis
Retinitis Pigmentosa
Strabismus
Cataract
Ocular Hypertension
Retinal Degeneration
Retinal Diseases
Eye Diseases, Hereditary
Retinal Dystrophies
Genetic Diseases, Inborn
Ocular Motility Disorders
Cranial Nerve Diseases
Nervous System Diseases
Lens Diseases

ClinicalTrials.gov processed this record on August 28, 2014