National Ophthalmic Genotyping and Phenotyping Network (eyeGENE (Registered Trademark)), Stage 3 - Expansion of DNA and Data Repositories for Rare Inherited Ophthalmic Diseases

Conditions

• Albinism
• Aniridia
• Best Disease
• Blue-cone Monochromacy
• Corneal Dystrophy
• Hypopigmentation Disorder
• Inherited Ophthalmic Diseases

Eligibility Criteria

Sex

ALL

Age

1 Day - 120 Years

Healthy Volunteers

Not accepted

Study Details

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.

Key Dates

Start date

Jul 12, 2024

Status verified

Jun 2026

Primary completion

Jun 27, 2054

Completion

Jun 27, 2054

Study Design

Enrollment

1,000 participants (estimated)

Arms

• Arm: Participants
  Participants with inherited eye diseases or relative of affected participant

Primary Outcome Measure

To expand the current eyeGENE data repository with targeted participant accrual. [ Time Frame: 30 years ]

Central Contacts

• eyeGene Coordinating Center
  (301) 435-3032
  [email protected]
• Brian P Brooks, M.D.
  (301) 451-2238
  [email protected]

Locations (2)

Find similar trials in Bethesda, MD

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