Repository for Inherited Eye Diseases
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|ClinicalTrials.gov Identifier: NCT00378742|
Recruitment Status : Enrolling by invitation
First Posted : September 21, 2006
Last Update Posted : December 9, 2019
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 (eyeGENE ) 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 or disease|
|Retinitis Pigmentosa Inherited Ophthalmic Diseases|
|Study Type :||Observational|
|Actual Enrollment :||6618 participants|
|Official Title:||National Ophthalmic Genotyping and Phenotyping Network, Stage 1 - Creation of DNA Repository for Inherited Ophthalmic Diseases|
|Study Start Date :||September 11, 2006|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00378742
Show 33 Study Locations
|Principal Investigator:||Robert B Hufnagel, M.D.||National Eye Institute (NEI)|