Active not recruitingOBSERVATIONAL

Gyrate Atrophy Ocular and Systemic Study

This study is for people with a rare eye condition called Gyrate Atrophy, which causes vision loss. Researchers want to understand how this condition progresses naturally over four years, even when people are on their usual special diet. They're looking at how problems with a specific gene (OAT) affect levels of a chemical called ornithine in the body and how it damages the retina, the light-sensitive part at the back of the eye. This research is important because it will help scientists design better gene therapy treatments in the future. Currently, the main treatment is a strict diet, which can be very challenging to stick to. Understanding the condition better could lead to new, easier ways to manage it.

At a glance

Status

Active not recruiting

Sponsor

Jaeb Center for Health Research

Enrolment target

Start

21 Nov 2023

Estimated completion

31 Dec 2028

Gyrate Atrophy Gyrata of Choroid and Retina; Atrophy Ornithine-δ-aminotransferase OAT Chorioretinal Degeneration

What is this study about?

Imagine your eye is like a camera, and the retina is the film that captures images. In a rare condition called Gyrate Atrophy, this 'film' gradually gets damaged, leading to problems with vision, especially in dim light, and eventually, significant vision loss. This happens because of a problem with a specific gene (called OAT), which normally helps process a chemical in the body called ornithine. When the gene doesn't work properly, too much ornithine builds up, which is thought to harm the retina.

The main way to treat Gyrate Atrophy right now is a very strict special diet that limits certain foods. While this diet can help, it's very difficult to follow for many people, putting a lot of strain on their daily lives. Because of these challenges, researchers are looking into new ways to treat the condition, especially gene therapy, which could potentially offer a more lasting solution.

This study, called the Gyrate Atrophy Ocular and Systemic Study, isn't testing a new treatment. Instead, it's a 'natural history' study. This means researchers want to carefully observe and record how the condition progresses over four years in people who are already managing it with their usual special diet. They'll be looking closely at how ornithine levels in the body change and how the retina is affected over time. The information gathered from this study will be incredibly valuable. It will help scientists understand the condition better and, crucially, will lay the groundwork for developing and testing new gene therapy treatments in the future, aiming to stop or slow down the vision loss without the need for such a difficult diet.

Key takeaways

This study is for people with Gyrate Atrophy.
It aims to understand how the condition progresses naturally over four years.
Participants will continue with their usual care, such as a special diet.
The research will help design future gene therapy treatments for Gyrate Atrophy.
It involves regular eye exams and blood tests over four years.
It does not involve testing a new medication or treatment.

Who may be eligible?

To join this study, you need to be at least 12 years old and willing to take part in all study visits and assessments for four years. A key part of joining is having a confirmed diagnosis of Gyrate Atrophy through genetic testing, showing two faulty OAT genes. If your genetic test isn't perfectly clear about both faulty genes, you might still be able to join if a doctor has diagnosed you with classic Gyrate Atrophy symptoms and you have high levels of ornithine in your blood.

You also need to have been diagnosed with a general retinal dystrophy (damage to the retina) in both eyes. Both your eyes must be clear enough for good quality photos to be taken, and you need to be able to focus steadily during eye tests.

You cannot join if you have a different type of genetic eye condition called autosomal dominant retinitis pigmentosa/retinal dystrophy, or certain other eye conditions that might make it hard to tell what's causing your vision problems. The study focuses specifically on Gyrate Atrophy caused by problems with the OAT gene.

Quick self-check

Are you at least 12 years old?
Do you have a genetic diagnosis of Gyrate Atrophy with two faulty OAT genes?
If your genetic results are unclear, have you been told by a doctor that you have classic Gyrate Atrophy with high ornithine levels?
Do you have a diagnosis of retinal damage (dystrophy) in both eyes?
Can you attend regular study visits for four years?
Are your eyes clear enough for good quality photographs?

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

What does participation involve?

This study will last for four years. During this time, you will have several study visits where doctors and nurses will check your eyes and overall health. They will perform various assessments, which might include special eye tests to take pictures of your retina and measure your vision, as well as blood tests to check your ornithine levels and other markers. You won't be given any new medication as part of this study; you'll continue with your standard care, which usually involves a special diet. The main aim is to observe how your condition changes over time with your current treatment. The researchers will also ask you questions about your vision and how the condition affects your daily life. You'll need to be able to attend all these visits over the entire four-year period.

Potential risks and benefits

Taking part in this study won't directly improve your Gyrate Atrophy because it's observing the natural course of the condition, not testing a new treatment. However, the information gathered from your participation will be very important for future research, helping scientists develop new treatments like gene therapy that could eventually benefit people with Gyrate Atrophy. Potential risks might include discomfort from eye exams or blood draws, and the time commitment for study visits. You have the right to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (11)

University of California San Francisco
San Francisco, United States
Johns Hopkins University, Wilmer Eye Institute
Baltimore, United States
Harvard Univ., Massachusetts Eye and Ear Infirmary
Boston, United States
University of Pennsylvania
Philadelphia, United States
INRET Clínica e Centro de Pesquisa
Belo Horizonte, Brazil
University of Toronto, Hospital for Sick Children
Toronto, Canada
Helsinki University Hospital
Helsinki, Finland
Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, INSERM-DGOS CIC1423
Paris, France
University of Tuebingen, Centre for Ophthalmology
Tübingen, Germany
Vista Vision Eye Clinic
Brescia, Italy
Moorfields Eye Hospital
London, United Kingdom

Common questions

What is Gyrate Atrophy?

It's a rare, inherited eye condition that causes progressive damage to the retina at the back of your eye, leading to loss of vision over time. It's caused by a faulty gene that affects how your body processes a chemical called ornithine.

Is this study testing a new treatment?

No, this study is a 'natural history' study. It's observing how Gyrate Atrophy changes over time in people using their usual care, not testing a new medicine or treatment. The information will help develop future treatments.

What will I have to do if I join?

You'll attend regular visits over four years for eye exams, vision tests, and blood tests. You'll continue with your current care (like your special diet) as you normally would.

Will this study help my vision?

Not directly. This study won't change the course of your Gyrate Atrophy. However, the information collected is crucial for researchers to understand the condition better and develop new, more effective treatments for the future.

Who is funding this research?

This study is funded by the FDA Office of Orphan Products Development (OOPD), which supports the development of treatments for rare diseases.