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Clinical Trials in Italy / NCT02771236
Recruiting Observational

Clinical and Molecular Studies in Families With Inherited Eye Disease

NCT02771236 · tracked via the Priya Life Science Italy tracker
Sponsor
National Eye Institute (NEI)
Phase
Observational
Started
2016-10-04
Last updated
2026-08-07

Condition(s) studied

Inherited Eye Disease

Study 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.

Eligibility

Sex
ALL
Min age
4 Years
Max age
120 Years
Healthy volunteers
No
* INCLUSION CRITERIA: To be eligible, the following inclusion criteria must be met, where applicable; 1. Participant must be four years of age or older. 2. Participant must understand and sign the protocol s informed consent document. 3. Individuals or family members of individuals with inherited eye diseases, either congenital, childhood, or age related. 4. All participants must be able to cooperate with study examination and phlebotomy. EXCLUSION CRITERIA: A participant is not eligible if any of the following exclusion criteria are present: 1. Participant has a disease, infection, or trauma that mimics inherited cataracts, retinal degenerations, glaucoma, etc. 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. Participant requires sedation for study purposes.

Primary outcome measure(s)

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

Trial sites (10)

FacilityCityRegionStatus
University of California, San Diego La Jolla California Recruiting
National Institutes of Health Clinical Center Bethesda Maryland Recruiting
Duke University Eye Center Durham North Carolina 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 Italy Withdrawn
National Centre of Excellence in Molecular Biology, University of the Punjab Lahore Pakistan Suspended
University of the Philippines Manila Philippines Recruiting
The Filatov Institute of Eye Disease and Tissue Therapy of the National Academy Odesa Ukraine Recruiting
University of Exeter Exeter United Kingdom Suspended
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT02771236 on ClinicalTrials.gov ↗ ← All trials in Italy