RECRUITING

Genetics of Inherited Eye Disease

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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. They also hope to learn more about how symptoms differ in people with similar gene changes. Objective: To learn more about genes involved in eye diseases. Eligibility: People who have a known or suspected inherited eye disease, and their relatives. Design: * All participants will have a medical history, physical exam, and eye exam. They will have blood taken. * Participants with an eye disease may have eye cell samples taken using a swab or biopsy procedure. * Participants may have a skin biopsy. A 3mm piece of skin will be removed. * Participants may provide samples of tears, urine, saliva, stool, hair, or inner cheek cells. * Participants may have a retina test. They may also have a test that uses light to measure retina thickness. * Participants may have an eye movement test. Electrodes will be placed on the skin next to both eyes. * Participants may have a fluorescein angiography. A dye will be given through an intravenous line in the arm. A camera will take pictures of the dye as it flows through the eyes blood vessels. * Participants may have microperimetry. They will sit at a computer screen and press a button when they see a light. * Participants may have an eye movement test. They will wear contact lenses or goggles and watch a series of spots on a computer screen. * Participants may complete a color vision test. * Participants will provide a specimen for genetic testing. * Participants may have a MRI. * Participants may complete questionnaires.

Official Title

The Genetics of Inherited Eye Disease

Quick Facts

Study Start:2015-06-22
Study Completion:2030-09-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT02471287

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:1 Year to 120 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 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. 2. Have the ability to cooperate with an age-appropriate eye exam.
  3. 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
  1. 1. They are unwilling or unable to be followed as clinically indicated.
  2. 2. They have a clear, non-genetic disease etiology (unless they are an unaffected relative).
  3. 3. Their participation would not contribute to the NEI research mission, at the discretion of the PI.
  4. 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.
  5. 2. They have claustrophobia and would feel uncomfortable in the MRI machine.
  6. 3. They are not able to lie comfortably on their back for up to one (1) hour.

Contacts and Locations

Study Contact

Daniel W Claus, R.N.
CONTACT
(301) 451-1621
daniel.claus@nih.gov

Principal Investigator

Laryssa A Huryn, M.D.
PRINCIPAL_INVESTIGATOR
National Eye Institute (NEI)

Study Locations (Sites)

National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States

Collaborators and Investigators

Sponsor: National Eye Institute (NEI)

  • Laryssa A Huryn, M.D., PRINCIPAL_INVESTIGATOR, National Eye Institute (NEI)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2015-06-22
Study Completion Date2030-09-01

Study Record Updates

Study Start Date2015-06-22
Study Completion Date2030-09-01

Terms related to this study

Keywords Provided by Researchers

  • Rare
  • Ocular

Additional Relevant MeSH Terms

  • Genetic Eye Disease