RecruitingOBSERVATIONAL

Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants

This international study, called the Universal Rare Gene Study, is for people in the UK with inherited retinal dystrophies, like Retinitis Pigmentosa. It aims to learn more about how rare genetic changes cause these conditions and how they typically progress. There are two main parts: a Registry and a Natural History Study. The Registry collects genetic and health information from many people to build a better picture of these rare conditions. The Natural History Study then follows a smaller group of people over time to see how the condition changes. This research is vital for understanding these diseases better, developing new ways to measure their progression, and ultimately helping to create more effective treatments in the future.

At a glance

Status

Recruiting

Sponsor

Jaeb Center for Health Research

Enrolment target

1,500

Start

11 May 2023

Estimated completion

15 Dec 2030

Inherited Retinal Degeneration Retinitis Pigmentosa

What is this study about?

This research project, called the Universal Rare Gene Study, is all about understanding a group of rare, inherited eye conditions known as retinal dystrophies. These conditions often cause a slow loss of sight because the light-sensing cells at the back of the eye (the retina) don't work properly or gradually stop working. Conditions like Retinitis Pigmentosa fall into this group. The study aims to gather important information about how specific, rare genetic changes cause these eye problems and how they affect people's vision over many years.

The study has two main parts. The first is a 'Registry,' which is like a large database. If you have a confirmed genetic change linked to a retinal dystrophy on their special list, you could be part of this. The Registry collects your genetic details and information about your eyesight at one point in time. This helps researchers build a big picture of how different genetic changes lead to different eye problems. The second part is a 'Natural History Study.' This part follows a smaller group of people who have already joined the Registry. These people will have regular check-ups over a longer period. This helps researchers see how these conditions typically progress, how quickly they change, and what factors might influence these changes.

By gathering all this information, the study hopes to achieve several important goals. It will help doctors and researchers better understand the links between specific genetic changes and the symptoms people experience. This knowledge is crucial for developing accurate ways to measure disease progression, which is essential for testing new treatments in future clinical trials. Ultimately, the more we understand these rare diseases, the better equipped we will be to find potential therapies and improve the lives of those affected.

Key takeaways

A study for inherited retinal dystrophies like Retinitis Pigmentosa.
Aims to understand how rare gene changes cause these eye conditions.
Includes two parts: a Registry (database) and a Natural History Study (following people over time).
Requires a previous genetic test showing a specific rare gene change.
Involves clinic visits for eye exams and assessments, and potentially phone calls.
Does not involve any new treatments; it's purely for research and understanding the conditions better.

Who may be eligible?

To be considered for this study, you need to be at least 4 years old. A very important part is that you must already have had a genetic test that clearly shows you have a specific genetic change (mutation) linked to a retinal dystrophy. This genetic change needs to be on the study's special list of 'rare genes.' The genetic test result must come from a certified lab, or one approved by the study's genetics team.

You also need to have both eyes diagnosed with a retinal dystrophy by a doctor, and both eyes must be able to be photographed clearly for eye assessments. This means your eyes should be healthy enough for good pictures, with clear vision pathways and pupils that can widen properly.

There are also specific details about the type of genetic change you have. For example, if your condition is inherited in a recessive way (meaning you need two copies of the faulty gene), the study will look for two faulty copies of the gene, or two faulty copies that are very likely to be inherited from both parents. If your condition is inherited in a dominant, X-linked, or mitochondrial way (meaning one faulty gene copy can cause the condition), then just one faulty copy of the gene is needed.

Quick self-check

Are you at least 4 years old?
Do you have a clear, existing genetic test report from a certified lab showing a specific gene fault linked to a retinal dystrophy (on their list)?
Have both your eyes been diagnosed with a retinal dystrophy?
Are both your eyes suitable for clear photographic imaging (e.g., pupils can widen, clear vision pathways)?

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

What does participation involve?

If you join the study, your journey will typically start by reviewing your existing genetic test report to confirm you meet the specific genetic requirements. The study won't perform new genetic tests. Once your genetic information is reviewed and confirmed, you'll officially be part of the 'Registry.'

Being in the Registry means you'll have an initial assessment to collect detailed information about your eye condition. You might then receive annual phone calls for up to four years, or until your specific genetic condition is chosen for the next stage. If your gene is selected for the 'Natural History Study,' you'll then be invited for a baseline visit at a clinic, followed by regular follow-up visits. These visits will involve detailed eye exams and tests to track any changes in your sight over time. The exact number and timing of these follow-up visits will depend on the specific gene being studied in the Natural History phase.

Potential risks and benefits

Taking part in this study may not directly benefit you, but the information collected will greatly help researchers and doctors better understand rare retinal dystrophies. This increased knowledge is crucial for developing future treatments for these conditions. The risks involved are generally low and mostly include the time commitment for clinic visits and routine eye exams, which are typically part of managing your condition. There are no medications or major procedures involved. You have the right to withdraw from the study at any time without giving a reason, and this will not affect your routine medical care.

Locations (36)

University of Arkansas, Jones Eye Institute
Little Rock, United States· Recruiting
USC Roski Eye Institute
Los Angeles, United States· Not yet recruiting
University of California San Francisco
San Francisco, United States· Recruiting
University of Florida Health Jacksonville
Jacksonville, United States· Recruiting
University of Miami, Bascom Palmer Eye Institute
Miami, United States· Recruiting
Emory University, Emory Eye Center
Atlanta, United States· Recruiting
Johns Hopkins University, Wilmer Eye Institute
Baltimore, United States· Recruiting
Harvard Univ., Massachusetts Eye and Ear Infirmary
Boston, United States· Recruiting
University of Michigan, Kellogg Eye Center
Ann Arbor, United States· Recruiting
Mayo Clinic
Rochester, United States· Recruiting
Duke University, Duke Eye Center
Durham, United States· Recruiting
Oregon Health & Science Univ., Casey Eye Institute
Portland, United States· Recruiting

+24 more sites — see the official record for the full list.

Common questions

What is an 'inherited retinal dystrophy'?

It's a group of eye conditions, like Retinitis Pigmentosa, that are passed down through families and cause gradual sight loss due to problems with the light-sensing cells in the eye.

Do I need a new genetic test to join?

No, the study will review your existing genetic test report. They won't perform new genetic testing.

What's the difference between the 'Registry' and the 'Natural History Study'?

The Registry gathers genetic and health information at one point in time from many people. The Natural History Study then follows a smaller group of these people over time with regular check-ups to see how their condition changes.

Will I receive any new treatment in this study?

No, this study is observational, meaning it collects information. It does not involve any new treatments or medications.

How long will I be involved?

Participation in the Registry can involve annual phone calls for up to four years. If you join the Natural History Study, you'll have regular clinic visits over a longer period, which will be explained to you.

How to find out more

Coordinating Center

ffb@jaeb.org 813-975-8690 Official trial record

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