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Sponsored by: |
National Eye Institute (NEI) |
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Information provided by: | National Institutes of Health Clinical Center (CC) |
ClinicalTrials.gov Identifier: | NCT00378742 |
This study will collect blood and DNA samples from patients with inherited eye diseases to be used in research to identify genetic factors responsible for these conditions. In recent years, nearly 500 genes that contribute to inherited eye diseases have been identified. Disease-causing mutations are associated with many eye diseases, including glaucoma, cataracts, strabismus, corneal dystrophies and a number of forms of retinal degenerations. As a result, gene-based therapies are being pursued to treat eye genetic diseases that were once considered untreatable.
The National Ophthalmic Genotyping Network is creating a national tissue repository to further advance genetic research on inherited eye disease, while at the same time providing clinically-useful information back to patients and physicians who request it.. Physicians in collaborating institutions will recruit patients to participate in the study. Patients will provide a blood sample and undergo a standard eye examination. The blood sample and clinical information will then be sent to the NEI for testing, processing and storing in the tissue repository. Patients are given the option to receive results back and/or to be re-contacted in the event of future clinical studies. Information supplied to the testing laboratories includes a unique identification number, the patient gender, and the patient date of birth. The stored samples will be made available to researchers along with information about the patient's disease, but without patient identifiers.
Condition |
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Retinitis Pigmentosa Inherited Ophthalmic Diseases |
Study Type: | Observational |
Official Title: | National Ophthalmic Genotyping and Phenotyping Network, Stage 1 - Creation of DNA Repository for Inherited Ophthalmic Diseases |
Estimated Enrollment: | 1250 |
Study Start Date: | September 2006 |
Molecular genetics has the potential to revolutionize the diagnosis and treatment of inherited eye diseases. Progress in research on inherited eye disease would be augmented by the availability of patient DNA coupled to robust, anonymous phenotypic information. The National Ophthalmic Genotyping Network (eyeGENE) has been created to answer this need. We propose the creation of a national repository of DNA and blood for inherited eye disease.
These samples will be gathered from clinical centers around the nation and will be coupled to anonymous, phenotypic descriptors. If requested, a portion of the DNA or blood submitted by a clinician will be used for appropriate, CLIA-certified molecular diagnostics that can be used in patient care. Once a sufficient repository is created, researchers will be able to request aliquots for their laboratory experiments. Participants will be provided the option to be re-contacted if an approved clinical study for which they might qualify is offered.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
To participate in this protocol:
1a. The participant must present with characteristics that meet minimal clinical criteria established by eyeGENE, as determined by the referring clinician.
OR
1b. The participant must be a relative of an affected participant if analysis would help with the interpretation of an affected participant's test results or to obtain some useful information as decided by the eyeGENE Research Study Group.
2. The participant must be willing and able to provide a suitable blood sample.
EXCLUSION CRITERIA:
Contact: eyeGene Coordinating Center | (301) 435-3032 | eyegeneinfo@nei.nih.gov |
United States, Alabama | |
University of Alabama | Recruiting |
Birmingham, Alabama, United States | |
United States, California | |
University of California, San Francisco | Recruiting |
San Francisco, California, United States, 94143 | |
University of California, Davis | Recruiting |
Davis, California, United States, 95616 | |
United States, Maryland | |
Wilmer Eye Institute | Recruiting |
Baltimore, Maryland, United States | |
United States, Massachusetts | |
Harvard University | Recruiting |
Boston, Massachusetts, United States, 02115 | |
Childrens Hospital, Boston | Recruiting |
Boston, Massachusetts, United States, 02115 | |
United States, Michigan | |
University of Michigan | Recruiting |
Ann Arbor, Michigan, United States, 48109-0624 | |
United States, Missouri | |
Washington University, St. Louis | Recruiting |
St. Louis, Missouri, United States, 63110 | |
United States, New York | |
Columbia University | Recruiting |
New York, New York, United States, 10032-3784 | |
United States, Ohio | |
Cole Eye Institute - Cleveland Clinic Foundation | Recruiting |
Cleveland, Ohio, United States, 44195 | |
United States, Oregon | |
Oregon Health Sciences University | Recruiting |
Portland, Oregon, United States, 97201-3098 | |
United States, Texas | |
University of Texas Southwestern Medical Center | Recruiting |
Dallas, Texas, United States, 75390 | |
University of Texas, Houston | Recruiting |
Houston, Texas, United States, 77030 | |
Baylor College of Medicine | Recruiting |
Houston, Texas, United States, 77030 | |
United States, Utah | |
University of Utah | Recruiting |
Salt Lake City, Utah, United States, 84112 |
Study ID Numbers: | 060236, 06-EI-0236 |
Study First Received: | September 20, 2006 |
Last Updated: | May 1, 2009 |
ClinicalTrials.gov Identifier: | NCT00378742 History of Changes |
Health Authority: | United States: Federal Government |
Gene Phenotype-Genotype correlation Molecular Diagnosis Retinal Degeneration Glaucoma Genetics Retinitis Pigmentosa Cataract |
Congestive Fibrosis of Extraocular Muscles Macular Dystrophy Inherited Eye Disease Retinal Degeneration Glaucoma Retinitis Pigmentosa Cataract Macular Dystrophy |
Pigmentary Retinopathy Cone Rod Dystrophy Genetic Diseases, Inborn Fibrosis Glaucoma Eye Diseases |
Cataract Retinitis Pigmentosa Retinitis Eye Diseases, Hereditary Retinal Degeneration Retinal Diseases |
Genetic Diseases, Inborn Eye Diseases Retinitis Pigmentosa Retinitis |
Retinal Degeneration Eye Diseases, Hereditary Retinal Diseases |