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Protocol Number:
06-EI-0236
- Title:
National Ophthalmic Genotyping Network Stage 1 - Creation of DNA Repository for Inherited Ophthalmic Diseases
- Number:
06-EI-0236
- Summary:
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.
- Sponsoring Institute:
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National Eye Institute (NEI)
- Recruitment Detail
- Type:
Participants currently recruited/enrolled
- Gender:
Male & Female
- Referral Letter Required:
Yes
- Population Exclusion(s):
None
- Eligibility Criteria:
INCLUSION CRITERIA:
To participate in this protocol:
- The participant must present with characteristics that meet minimal clinical criteriaestablished by eyeGENE, as determined by the referring clinician.
- The participant must be willing and able to provide a suitable blood sample.
EXCLUSION CRITERIA:
- Severe systemic disease that compromise the ability of the referring clinician to obtain an adequate eye examination.
- Any disease or condition that makes it unsafe for a subject to provide a blood sample of at least 5 ml for children and at least 15ml for adults.
- Inability to cooperate with phlebotomy and clinical examination.
- Those with impaired decision-making capability who do not have a legally-authorized representative.
- Special Instructions:
Currently Not Provided
- Keywords:
-
Gene
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Phenotype-Genotype correlation
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Molecular Diagnosis
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Retinal Degeneration
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Glaucoma
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Genetics
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Retinitis Pigmentosa
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Cataract
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Congestive Fibrosis of Extraocular Muscles
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Macular Dystrophy
- Recruitment Keyword(s):
-
Inherited Eye Disease
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Retinal Degeneration
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Glaucoma
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Retinitis Pigmentosa
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Cataract
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Macular Dystrophy
- Condition(s):
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Retinitis Pigmentosa
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Inherited Ophthalmic Diseases
- 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):
Not Provided
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Bethesda, Maryland 20892. Last update: 09/17/2008
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