RecruitingOBSERVATIONAL

Clinical and Molecular Studies in Families With Inherited Eye Disease

This study is looking into why certain eye conditions run in families. Researchers want to identify the specific genes that cause inherited eye diseases. They will study people aged 4 and over who either have an inherited eye disease themselves or have it in their family. Taking part involves one visit for eye exams, blood tests, and saliva samples. The goal is to build a clearer picture of these conditions at a genetic level. This could lead to a better understanding of how they develop and, in the future, might help in finding new treatments or ways to manage them. It's about gathering knowledge to help many people.

At a glance

Status

Recruiting

Sponsor

National Eye Institute (NEI)

Enrolment target

5,000

Start

04 Oct 2016

Estimated completion

01 Jan 2032

Inherited Eye Disease

What is this study about?

This research project is all about inherited eye diseases, which are conditions that can be passed down through families. Think of genes as tiny instruction manuals inside our bodies; when these instructions have a small change, they can sometimes lead to health problems like certain eye conditions. The scientists leading this project want to understand exactly which changes in our genes cause these inherited eye diseases.

They're studying lots of different inherited eye problems, not just one type. This includes conditions like cataracts (cloudy patches in the eye's lens), problems with the cornea (the clear front part of the eye), various issues with the retina (the light-sensitive layer at the back of the eye), and glaucoma (a condition that damages the optic nerve). By studying families from many different backgrounds, they hope to discover new genetic links that could be important for understanding these diseases.

The main goal is to find the specific genes involved and to figure out how these gene changes actually affect the eye and cause disease. This knowledge is really important because it could eventually help doctors provide better diagnoses, understand who is at risk, and even develop new treatments or ways to slow down the progression of these conditions in the future. It's a key step in helping people living with inherited eye diseases.

Key takeaways

The study aims to find genes linked to inherited eye diseases.
It involves one visit lasting 3-4 hours for exams and samples.
Participants must be aged 4 or older with an inherited eye condition in their family.
Genetic testing will be performed on blood and saliva samples.
Results from this study could lead to better understanding and future treatments.
You can stop participating at any time.

Who may be eligible?

To be part of this study, you need to be at least 4 years old. You must either have an inherited eye disease yourself, or have family members who have inherited eye diseases. It's also important that you can understand what the study involves and agree to take part by signing a consent form.

You should be able to sit through the eye examinations and have a blood test without too much difficulty. For example, if you need sedation just to have these tests done, you might not be able to join.

There are also a few reasons why you might not be able to take part. This includes if you have another illness, infection, or injury that might make it look like you have an inherited eye condition when you don't. Also, if you have a serious active infection that needs treatment, or a history of frequent infections, you wouldn't be able to join this study.

Quick self-check

Are you 4 years old or older?
Do you or a family member have an inherited eye disease?
Can you understand and sign the consent form?
Can you comfortably have an eye exam and a blood test?
Are you generally healthy, without a serious active infection?

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

If you decide to take part in this study, you'll need to come in for one visit, which will last about 3 to 4 hours. During this visit, you'll have a chat with the researchers about your medical history and any eye conditions in your family. You'll also have a thorough eye exam, where they might put drops in your eyes to make your pupils wider.

Another test is called an electroretinogram. This involves a small sticky pad placed on your forehead. You'll sit in the dark for about 30 minutes with patches over your eyes. Then, after numbing drops, special contact lenses are placed on your eyes, and you'll watch flashing lights. You'll also give a blood sample and a saliva sample (by spitting into a pot or having the inside of your cheek gently swabbed).

The researchers will then use these samples for genetic testing to look at your DNA. Later, you might have the chance to meet with the researchers to discuss the results of your genetic tests. The study does not involve taking any medication or having continuous follow-up appointments.

Potential risks and benefits

Taking part in this study helps researchers understand inherited eye diseases, which could lead to better knowledge and treatments in the future for many people. It's important to know there are some small risks, like temporary blurred vision from eye drops, mild discomfort from the eye tests and blood draws, or potential minor bruising from the blood test. All information will be kept private. Remember, you can choose to leave the study at any time, for any reason, without it affecting your medical care.

Locations (10)

University of California, San Diego
La Jolla, United States· Recruiting
National Institutes of Health Clinical Center
Bethesda, United States· Recruiting
Duke University Eye Center
Durham, 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, 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

Common questions

What is an 'inherited eye disease'?

It's an eye condition that can be passed down through families because of changes in our genes.

Will I get results from my genetic tests?

You may have the opportunity to meet with researchers to discuss your genetic test results.

How long will my visit take?

Your study visit will be a single appointment lasting about 3 to 4 hours.

Do I need to take any medicine for this study?

No, this study does not involve taking any medication.

Who can join this study?

People aged 4 and older who have an inherited eye disease or have it in their family can join.

How to find out more

James F Hejtmancik, M.D.

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

Always speak to your GP or specialist before deciding to take part in a study.