Active not recruitingOBSERVATIONAL

Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F

This research study aims to understand how a particular type of inherited sight loss, called retinal degeneration, progresses in people who have Usher Syndrome 1F and changes in their PCDH15 gene. By carefully observing how the condition develops over time, the researchers hope to find better ways to measure these changes. Knowing how to accurately track the disease's progression is really important because it will help speed up the development and testing of new medicines. The study is particularly looking for features that can be measured easily and reliably in future clinical trials, with the ultimate goal of finding effective treatments for this specific form of inherited sight loss.

At a glance

Status

Active not recruiting

Sponsor

Jaeb Center for Health Research

Enrolment target

Start

08 Jun 2021

Estimated completion

30 Jun 2027

Retinal Degeneration Retinitis Pigmentosa Eye Diseases, Hereditary

What is this study about?

Imagine your eye like a camera, and the retina at the back is like the film that captures images. In some people, due to a problem with a specific gene called PCDH15, this 'film' slowly starts to wear out. This condition is called retinal degeneration and it's a part of Usher Syndrome 1F, which can also affect hearing.

This study isn't testing a new medicine or treatment. Instead, it's like a detective story. Researchers want to carefully watch and understand how this eye condition changes and progresses naturally over time in people with the PCDH15 gene problem. They want to see how quickly sight might change, what specific parts of the eye are affected, and whether certain things make it better or worse.

The main reason for doing this detailed 'watch and learn' study is to help future research. If scientists know exactly how the condition naturally progresses, they can then design better clinical trials for new treatments. It will help them measure if a new treatment is really making a difference, much like knowing a starting point helps you measure a journey. This knowledge is crucial for speeding up the development of effective medicines for this type of inherited sight loss.

Key takeaways

This study observes how an inherited eye condition changes over four years.
It focuses on sight loss linked to the PCDH15 gene and Usher Syndrome 1F.
The goal is to find better ways to measure eye changes for future treatment trials.
It helps speed up the search for effective treatments.
Participants will have regular eye checks but won't receive new treatments.

Who may be eligible?

To join this study, you need to be at least 8 years old. The most important requirement is that you have a specific genetic change (or changes) in your PCDH15 gene, which has been identified by a lab. This genetic change is what causes your eye condition.

You also need to be able to attend all study appointments over a four-year period and understand what is involved in taking part. If you're already planning to join another study that's testing a new treatment for your PCDH15-related eye condition, then this study might not be suitable for you.

Both of your eyes need to have a clear diagnosis of retinal dystrophy – this is the general term for your eye condition. Your eyes also need to be clear enough for doctors to take good quality pictures of them.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you at least 8 years old?
Do you have a confirmed genetic change in your PCDH15 gene?
Can you attend regular study visits for about four years?
Are both your eyes diagnosed with retinal dystrophy?
Are you NOT currently planning to join another study testing a new treatment for this condition?

Answer every question to see your result.

What does participation involve?

If you decide to take part, you'll be involved in this study for about four years. During this time, you will have regular visits to the study clinic. These visits will involve various tests and examinations to assess your eyesight and the health of your eyes. This might include taking pictures of your eyes and other eye tests, as well as asking you questions about changes you notice. This study is observation-only, meaning you won't be given any experimental medication, but doctors will be carefully monitoring your condition. The main goal is to record how your eye condition changes over time.

Potential risks and benefits

There are no direct medical benefits from taking part in this study, as it doesn't involve new treatments. However, your participation will provide incredibly valuable information that will help scientists understand your condition better and speed up the development of future treatments for people with PCDH15-related sight loss. The risks involved are generally low and mostly relate to the inconvenience of study visits and potential discomfort from eye examinations, like having your pupils dilated. You are free to withdraw from the study at any time without giving a reason, and this will not affect your usual medical care.

Locations (10)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

University of California, San Francisco
Verified postcode
San Francisco, United States
The Johns Hopkins Wilmer Eye Institute
Verified postcode
Baltimore, United States
Duke University, Duke Eye Center
Verified postcode
Durham, United States
Hospital for Sick Children
Verified postcode
Toronto, Canada
CHNO des Quinze-Vingts
Verified postcode
Paris, France
University of Tubingen
Verified postcode
Tübingen, Germany
Haddassah Medical Center
Verified postcode
Jerusalem, Israel
Radboud University
Verified postcode
Nijmegen, Netherlands
University Hospital Basel
Verified postcode
Basel, Switzerland
Moorfields Eye Hospital
Verified postcode
London, United Kingdom

Common questions

What is 'retinal degeneration'?

It's a condition where the retina, the light-sensing part at the back of your eye, slowly loses its ability to work properly, leading to reduced vision.

What does 'natural history study' mean?

It means researchers are observing how a condition changes and progresses over time without introducing any new treatments or interventions.

Will I be given any medicine in this study?

No, this study is about observing your condition, not testing new medicines. You won't be given any experimental treatments.

How long will I need to be in the study?

The study will last for about four years, with regular check-ups during that time.

What is the PCDH15 gene and Usher Syndrome 1F?

The PCDH15 gene is linked to an inherited condition called Usher Syndrome 1F, which can cause both hearing loss and a specific type of sight loss called retinal degeneration.