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โ† Trials
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National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases

Recruitingn/aAges 1 Day - 120 YearsAllNational Eye Institute (NEI)
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In plain words

What the trial is, and whether it could suit you

Background: The eyeGENE (Registered Trademark) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imaging, and a corresponding biobank of DNA samples from people with a variety of eye diseases. Since 2007 this registry has been helping researchers learn more about the genetic sources for many inherited eye diseases. These findings helped them create better treatments. Now researchers want to expand eyeGENE (Registered Trademark) to include more people for certain eye diseases. Objective: To collect information and DNA samples for the study of eye diseases. * Primary objective --To expand the current eyeGENE (Registered Trademark) data repository with targeted participant accrual * Secondary objectives * To enhance recruitment for clinical trials and investigations in inherited eye diseases * To establish genotype-phenot

Sign in to get the eligibility rules as simple questions to take to your doctor.

๐Ÿ“‹ Eligibility rules (as published)
* INCLUSION CRITERIA: In order to be eligible to participate in this study, an individual must meet all of the following criteria: The participant must present with characteristics consistent with one of the following diagnoses: * Aniridia * Best disease * Blue-cone monochromacy * Corneal dystrophy * Other hypopigmentation disorder affecting vision (e.g., Oculocutaneous and ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome) OR The participant must be a direct, close relative of an affected participant. OR A participant who also participated in the eyeGENE Stage 1 protocol who may benefit from further genetic testing. EXCLUSION CRITERIA: An individual who meets any of the following criteria will be excluded from participation in this study: * Those with impaired decision-making capability who do not have a legally-authorized representative. * Those unable to provide a saliva sample OR have any disease or condition that makes it unsafe for a subject to provide a suitable blood sample of at least 5 mL to yield more than 50 micrograms of DNA. An individual who meets any of the following criteria will be excluded from participation in the optional retinal imaging: * Those with a history of epilepsy. * Children under the age of 18.
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What it tests

  • Not listed
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Where

2 sites
National Eye Institute (NEI)
Bethesda, United States
National Institutes of Health Clinical Center
Bethesda, United States
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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