Status:
RECRUITING
National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Lead Sponsor:
National Eye Institute (NEI)
Conditions:
Inherited Ophthalmic Diseases
Hypopigmentation Disorder
Eligibility:
All Genders
1-120 years
Brief Summary
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 sa...
Detailed Description
STUDY DESCRIPTION: Molecular genetics has revolutionized the diagnosis and treatment of inherited eye diseases. Progress in research on inherited eye disease is augmented by the availability of patie...
Eligibility Criteria
Inclusion
- 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.
Exclusion
Key Trial Info
Start Date :
July 12 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
June 27 2054
Estimated Enrollment :
1000 Patients enrolled
Trial Details
Trial ID
NCT06491615
Start Date
July 12 2024
End Date
June 27 2054
Last Update
August 19 2025
Active Locations (2)
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1
National Eye Institute (NEI)
Bethesda, Maryland, United States, 20892
2
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892