NCT02771236

Brief Summary

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. ...

Trial Health

83
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
5,000

participants targeted

Target at P75+ for all trials

Timeline
70mo left

Started Oct 2016

Longer than P75 for all trials

Geographic Reach
8 countries

10 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress63%
Oct 2016Jan 2032

First Submitted

Initial submission to the registry

May 12, 2016

Completed
1 day until next milestone

First Posted

Study publicly available on registry

May 13, 2016

Completed
5 months until next milestone

Study Start

First participant enrolled

October 4, 2016

Completed
15.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2032

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2032

Last Updated

April 14, 2026

Status Verified

June 13, 2025

Enrollment Period

15.3 years

First QC Date

May 12, 2016

Last Update Submit

April 11, 2026

Conditions

Inherited Eye Disease

Keywords

GeneticsNatural History

Outcome Measures

Primary Outcomes (1)

  • Document the clinical and genetic features of Mendelian and age related visual disorders

    Provide improved diagnosis and categorization of inherited visual disorders and should eventually suggest rationales for prevention or delay of both Mendelian and complex eye diseases

    Study duration

Study Arms (5)

Participants with cataracts

Participants with cataracts

Participants with corneal dystrophies

Participants with corneal dystrophies

Participants with glaucoma

Participants with glaucoma or other anterior chamber anomalies

Participants with lens refractive errors

Participants with lens refractive errors including myopia and hyperopia

Participants with retinal degenerations

Participants with retinal degenerations

Eligibility Criteria

Age4 Years - 120 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Participants with inherited eye diseases.

You may qualify if:

  • Participant must be four years of age or older.
  • Participant must understand and sign the protocol s informed consent document.
  • Individuals or family members of individuals with inherited eye diseases, either congenital, childhood, or age related.
  • All participants must be able to cooperate with study examination and phlebotomy.

You may not qualify if:

  • Participant has a disease, infection, or trauma that mimics inherited cataracts, retinal degenerations, glaucoma, etc.
  • Participant has a significant active infection (an infection requiring treatment as determined by the investigator) or a history of chronic or recurrent infections.
  • Participant requires sedation for study purposes.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (10)

University of California, San Diego

La Jolla, California, 92093-0603, United States

RECRUITING

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Duke University Eye Center

Durham, North Carolina, 27708, United States

WITHDRAWN

Eye Research Institute, Zhongshan Ophthalmic Center, Sun Yat Sen University

Guangzhou, China

RECRUITING

Aravind Medical Research Foundation

Madurai, India

WITHDRAWN

Seconda Universita di Napoli

Naples, 80014, Italy

WITHDRAWN

National Centre of Excellence in Molecular Biology, University of the Punjab

Lahore, 53700, Pakistan

RECRUITING

University of the Philippines

Manila, 4031, Philippines

RECRUITING

The Filatov Institute of Eye Disease and Tissue Therapy of the National Academy

Odesa, 6500, Ukraine

RECRUITING

University of Exeter

Exeter, United Kingdom

RECRUITING

Related Links

Study Officials

  • James F Hejtmancik, M.D.

    National Eye Institute (NEI)

    PRINCIPAL INVESTIGATOR

Central Study Contacts

James F Hejtmancik, M.D.

CONTACT

(301) 435-1598f3h@helix.nih.gov

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
CROSS SECTIONAL
Sponsor Type
NIH
Responsible Party
SPONSOR

Study Record Dates

First Submitted

May 12, 2016

First Posted

May 13, 2016

Study Start

October 4, 2016

Primary Completion (Estimated)

January 1, 2032

Study Completion (Estimated)

January 1, 2032

Last Updated

April 14, 2026

Record last verified: 2025-06-13

Data Sharing

IPD Sharing
Will not share

Locations

GB(1)CN(1)IN(1)UA(1)IT(1)PA(1)US(3)PH(1)