Expansion of a genetic and data repository for rare eye diseases
Official title: National Ophthalmic Genotyping and Phenotyping Network, Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
Run by National Institutes of Health Clinical Center (CC) · NCT06491615 · Data updated 2026-11-12
This study is collecting genetic and health information from people with rare eye diseases like Aniridia and Best disease, along with their family members, to help improve understanding and treatment options for these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 1 Day to 120 Years |
| Sex | All |
| Enrollment | 1000 (estimated) |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 2 sites (Bethesda, Maryland and 1 other locations) |
| Status | Recruiting |
| Started | July 12, 2024 |
| Main results expected | June 27, 2054 |
| Study ends | June 27, 2054 |
| Registry record updated | November 6, 2026 |
| Trial ID | NCT06491615 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include individuals diagnosed with specific inherited eye conditions or their close relatives.
✕Probably not a fit
Patients without a diagnosis of the specified eye diseases or those unable to provide a saliva sample may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
The eyeGENE program aims to collect genetic and phenotypic data from individuals with inherited eye diseases to enhance understanding and treatment options. This observational study will expand the existing data repository by recruiting participants with specific eye conditions, including Aniridia and Best disease, as well as their close relatives. The study will also facilitate the establishment of genotype-phenotype correlations and improve recruitment for future clinical trials. By gathering DNA samples and clinical information, researchers hope to advance the field of inherited ophthalmic diseases.
Why it matters
Potential benefit: If successful, this initiative could lead to improved diagnosis and treatment options for patients with rare inherited eye diseases.
How similar studies have gone: Other studies focusing on genetic data collection for rare diseases have shown promise, indicating that this approach could be beneficial.
Who can join: the full rules
Show full inclusion / exclusion criteria
* 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.
Where it's running
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National Eye Institute (NEI)
Bethesda, Maryland, United States Recruiting -
National Institutes of Health Clinical Center
Bethesda, Maryland, United States Recruiting
Study contacts
- Principal investigator: Brian P Brooks, M.D. — National Eye Institute (NEI)
- Study coordinator: eyeGene Coordinating Center
- Email: neieyegeneinfo@nih.gov
- Phone: (301) 435-3032
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Other studies for the same condition or treatment. Recruiting studies are listed first.
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National cohort for congenital eye defects
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.