Inherited Ophthalmic DiseasesNCT06491615
National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
An observational study of Inherited Ophthalmic Diseases and Hypopigmentation Disorder, run by National Eye Institute (NEI) at 2 sites in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 day to 120 years
- Conditions the study is for
- Inherited Ophthalmic Diseases, Hypopigmentation Disorder, Corneal Dystrophy
- How many people
- 1,000 participants
- Where
- 2 sitesUnited States
- Study dates
- 12 Jul 2024to 27 Jun 2054
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 120 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Participants with inherited eye diseases or their unaffected relatives.
Who may be able to join
- 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
Show all 11Show fewer
- 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.
Who cannot join
- 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.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites, 2 recruiting
- Recruiting
National Eye Institute (NEI)
Bethesda, Maryland, 20892
Brian Brooks, M.D., 301-451-2238, brooksb@mail.nih.gov
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
About this study
Official title: National Ophthalmic Genotyping and Phenotyping Network, Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
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.
Read more
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.
Read the 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 patient DNA coupled to phenotypic information. To expand the current eyeGENE (Registered Trademark) data repository, participants will be accrued from targeted rare and ultra-rare disease populations.
OBJECTIVES:
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
- Conditions
- Inherited Ophthalmic Diseases, Hypopigmentation Disorder, Corneal Dystrophy, Blue-cone Monochromacy, Best Disease, Aniridia
- Keywords
- eyeGENE, Genetics, Inherited
- Medical subject headings
- Vitiligo, Corneal Dystrophies, Hereditary, Blue cone monochromatism, Vitelliform Macular Dystrophy, Aniridia, Albinism
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Participants | Participants with inherited eye diseases or relative of affected participant |
What is being measured
The primary outcome is the main question the study is designed to answer.
To expand the current eyeGENE data repository with targeted participant accrual.
To expand the current eyeGENE data repository with targeted participant accrual.
Measured: 30 years
Secondary outcomes (2)
To enhance recruitment for clinical trials and investigations in inherited eye diseases.
To enhance recruitment for clinical trials and investigations in inherited eye diseases.
Measured: 30 years
To establish genotype-phenotype correlations for rare eye diseases.
To establish genotype-phenotype correlations for rare eye diseases.
Measured: 30 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Jul 2024
- Study start12 Jul 2024
- Primary completion27 Jun 2054 (estimated)
- Study completion27 Jun 2054 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Inherited Ophthalmic DiseasesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Eye Institute (NEI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Brian P Brooks, M.D., Principal investigator, National Eye Institute (NEI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06491615
- Sponsor's protocol ID
- 10001647
- Other IDs
- 001647-EI
- Status last verified
- 3 Nov 2026
- First submitted
- 8 Jul 2024
- Last updated
- 6 Nov 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- National Ophthalmic Genotyping and Phenotyping Network, Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases
- ClinicalTrials.gov ID
- NCT06491615
- Acronym / sponsor ID
- 10001647
- Conditions
- Inherited Ophthalmic Diseases, Hypopigmentation Disorder, Corneal Dystrophy, Blue-cone Monochromacy, Best Disease, Aniridia
- Keywords
- eyeGENE, Genetics, Inherited
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Study start
- 12 Jul 2024 (actual)
- Primary completion
- 27 Jun 2054 (estimated)
- Study completion
- 27 Jun 2054 (estimated)
- First posted
- 9 Jul 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 patient DNA coupled to phenotypic information. To expand the current eyeGENE (Registered Trademark) data repository, participants will be accrued from targeted rare and ultra-rare disease populations.
OBJECTIVES:
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
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants | – | –Participants with inherited eye diseases or relative of affected participant |
Who may qualify
- Ages
- 1 day to 120 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Participants with inherited eye diseases or their unaffected relatives.
Key inclusion criteria (11 listed)
- 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
Key exclusion criteria (6 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To expand the current eyeGENE data repository with targeted participant accrual.
Time frame: 30 years
To expand the current eyeGENE data repository with targeted participant accrual.
2 secondary outcomes
To enhance recruitment for clinical trials and investigations in inherited eye diseases.
Time frame: 30 years
To establish genotype-phenotype correlations for rare eye diseases.
Time frame: 30 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Nov 2026.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Brian P Brooks, M.D. principal investigator
National Eye Institute (NEI)
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Inherited Ophthalmic Diseases and Hypopigmentation Disorder, run by National Eye Institute (NEI) at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact eyeGene Coordinating Center ((301) 435-3032, neieyegeneinfo@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To expand the current eyeGENE data repository with targeted participant accrual. (time frame: 30 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Nov 2026.