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NCT Number: NCT06491615

National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), 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.

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.

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Key information

Conditions

Inherited Ophthalmic Diseases Albinism Amino Acid Metabolism, Inborn Errors Aniridia Best Disease Blue cone monochromatism Blue-cone Monochromacy Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Corneal Diseases Corneal Dystrophies, Hereditary Corneal Dystrophy Eye Abnormalities Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Hypopigmentation Hypopigmentation Disorder Iris Diseases Macular Degeneration Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases Pigmentation Disorders Retinal Degeneration Retinal Diseases Skin Diseases Skin Diseases, Genetic Skin and Connective Tissue Diseases Uveal Diseases Vitelliform Macular Dystrophy Vitiligo

Age range

1 day–120 year

Sex eligibility

All sexes

Study type

Observational

Primary location

National Eye Institute (NEI), Bethesda, Maryland, United States

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About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

  • 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.

Treatment and study plan

Primary outcomes

  1. 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.

Secondary outcomes

  1. To enhance recruitment for clinical trials and investigations in inherited eye diseases.

    Time frame: 30 years

    To enhance recruitment for clinical trials and investigations in inherited eye diseases.

  2. To establish genotype-phenotype correlations for rare eye diseases.

    Time frame: 30 years

    To establish genotype-phenotype correlations for rare eye diseases.

Study contacts

Contact information is provided by the study sponsor or research team.

Brian P Brooks, M.D.

CONTACT

[email protected]

(301) 451-2238

eyeGene Coordinating Center

CONTACT

[email protected]

(301) 435-3032

Sponsors and collaborators

Lead sponsor

National Eye Institute (NEI)

Nih

Registry information

Official study title

National Ophthalmic Genotyping and Phenotyping Network, Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases

Important dates

Study start
2024
Primary completion
2054
Study completion
2054
First posted
Jul 9, 2024
Registry last updated
Jun 9, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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