National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
2 other identifiers
observational
1,000
1 country
2
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 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-phenotype correlations for rare eye diseases Eligibility: People of any age with certain eye diseases. These can include aniridia; Best disease; blue-cone monochromacy; corneal dystrophy; and disorders of pigmentation, such as albinism. Relatives unaffected by the eye disease of interest may also be needed. Design: Researchers will select participants based on their diagnosis. The data may include images and test results from eye exams. Participants will provide a sample of saliva. They will receive a kit with written instructions. They will spit in a tube and mail it to the NIH. Participants may be asked to provide a blood sample. The blood may be drawn at the NIH or at a local clinic. The eyeGENE (Registered Trademark) repository will offer researchers data about the participants eye conditions. The data may include pictures of their eyes, results of the genetic testing, and history of other diseases. Researchers will be able to see data such as age and gender, but they will not see names, dates of birth, or contact information.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Jul 2024
Longer than P75 for all trials
2 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
July 8, 2024
CompletedFirst Posted
Study publicly available on registry
July 9, 2024
CompletedStudy Start
First participant enrolled
July 12, 2024
CompletedPrimary Completion
Last participant's last visit for primary outcome
June 27, 2054
ExpectedStudy Completion
Last participant's last visit for all outcomes
June 27, 2054
May 4, 2026
April 30, 2026
30 years
July 8, 2024
May 1, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
To expand the current eyeGENE data repository with targeted participant accrual.
To expand the current eyeGENE data repository with targeted participant accrual.
30 years
Secondary Outcomes (2)
To enhance recruitment for clinical trials and investigations in inherited eye diseases.
30 years
To establish genotype-phenotype correlations for rare eye diseases.
30 years
Study Arms (1)
Participants
Participants with inherited eye diseases or relative of affected participant
Eligibility Criteria
Participants with inherited eye diseases or their unaffected relatives.
You may qualify if:
- 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)
- The participant must be a direct, close relative of an affected participant.
- A participant who also participated in the eyeGENE Stage 1 protocol who may benefit from further genetic testing.
You may not qualify if:
- 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.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (2)
National Eye Institute (NEI)
Bethesda, Maryland, 20892, United States
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Brian P Brooks, M.D.
National Eye Institute (NEI)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- OTHER
- Sponsor Type
- NIH
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
July 8, 2024
First Posted
July 9, 2024
Study Start
July 12, 2024
Primary Completion (Estimated)
June 27, 2054
Study Completion (Estimated)
June 27, 2054
Last Updated
May 4, 2026
Record last verified: 2026-04-30
Data Sharing
- IPD Sharing
- Will not share