Status:

RECRUITING

Genetics of Inherited Eye Disease

Lead Sponsor:

National Eye Institute (NEI)

Conditions:

Genetic Eye Disease

Eligibility:

All Genders

1-120 years

Brief Summary

Background: Research has identified some of the genes involved in inherited eye diseases. But for many of these diseases, the genes are not yet known. Researchers want to try to find these genes. The...

Detailed Description

OBJECTIVE: Molecular genetics and genomics are revolutionizing the delivery of medicine in general and ophthalmology in particular. New treatment and prevention strategies rely on a detailed understa...

Eligibility Criteria

  • INCLUSION CRITERIA:

Participants will be eligible if they:

  1. Have a known or suspected inherited eye disease OR are an unaffected (usually first degree) relative of a participant with a known or suspected inherited eye disease.
  2. Have the ability to cooperate with an age-appropriate eye exam.
  3. Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity. Unaffected adult relatives of a participant should be able

to provide consent.

EXCLUSION CRITERIA:

Participants will not be eligible if:

  1. They are unwilling or unable to be followed as clinically indicated.
  2. They have a clear, non-genetic disease etiology (unless they are an unaffected relative).
  3. Their participation would not contribute to the NEI research mission, at the discretion of the PI.

Exclusion Criteria for MRI (if applicable)

Participants will not be eligible for optional MRI procedure if:

  1. They have metal in their body which would make having an MRI scan unsafe, such as pacemakers, stimulators, pumps, aneurysm clips, metallic prostheses, artificial heart valves, cochlear implants or shrapnel fragments, or if they were a welder or metal worker, since they may small metal fragments in the eye.
  2. They have claustrophobia and would feel uncomfortable in the MRI machine.
  3. They are not able to lie comfortably on their back for up to one (1) hour.

Key Trial Info

Start Date :

June 22 2015

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

September 1 2030

Estimated Enrollment :

1500 Patients enrolled

Trial Details

Trial ID

NCT02471287

Start Date

June 22 2015

End Date

September 1 2030

Last Update

October 2 2025

Active Locations (1)

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Page 1 of 1 (1 locations)

1

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892