National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 … (NCT06491615) | Clinical Trial Compass
RecruitingNot Applicable
National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
United States1,000 participantsStarted 2024-07-12
Plain-language 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.
Who can participate
Age range
1 Day – 120 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
* 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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
To expand the current eyeGENE data repository with targeted participant accrual.