RECRUITING

Clinical and Molecular Studies in Families With 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: Genes are the basic units of heredity. When genes are changed, certain cells don t work like they should. Researchers want to try to better understand the genetic conditions that are linked with inherited eye diseases. Objective: To try to identify the genes linked to the development of inherited eye diseases. Eligibility: People ages 4 and older who have or have a family member with an inherited eye disease Design: Participants will be screened with medical history and medical records. Participants will have one visit that will take 3-4 hours. This will include: Medical and family history Eye exam: This includes the pupil being dilated. Electroretinography: A small electrode is taped to the forehead. Participants sit in the dark with their eyes patched for 30 minutes. Then numbing drops and contact lenses are put in the eyes. They will watch flashing lights. Blood tests Saliva sample: They will spit into a container or have the inside of their cheek swabbed. Genetic testing will be done on participants blood or saliva. Participants may meet with the researchers to discuss their genetic tests.

Official Title

Clinical and Molecular Studies in Families With Inherited Eye Disease

Quick Facts

Study Start:2016-10-04
Study Completion:2032-01-01
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT02771236

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:4 Years to 120 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. Participant must be four years of age or older.
  2. 2. Participant must understand and sign the protocol s informed consent document.
  3. 3. Individuals or family members of individuals with inherited eye diseases, either congenital, childhood, or age related.
  4. 4. All participants must be able to cooperate with study examination and phlebotomy.
  1. 1. Participant has a disease, infection, or trauma that mimics inherited cataracts, retinal degenerations, glaucoma, etc.
  2. 2. Participant has a significant active infection (an infection requiring treatment as determined by the investigator) or a history of chronic or recurrent infections.
  3. 3. Participant requires sedation for study purposes.

Contacts and Locations

Study Contact

James F Hejtmancik, M.D.
CONTACT
(301) 435-1598
f3h@helix.nih.gov

Principal Investigator

James F Hejtmancik, M.D.
PRINCIPAL_INVESTIGATOR
National Eye Institute (NEI)

Study Locations (Sites)

University of California, San Diego
La Jolla, California, 92093-0603
United States
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
United States
Duke University Eye Center
Durham, North Carolina, 27708
United States

Collaborators and Investigators

Sponsor: National Eye Institute (NEI)

  • James F Hejtmancik, 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 Date2016-10-04
Study Completion Date2032-01-01

Study Record Updates

Study Start Date2016-10-04
Study Completion Date2032-01-01

Terms related to this study

Keywords Provided by Researchers

  • Genetics
  • Natural History

Additional Relevant MeSH Terms

  • Inherited Eye Disease