RecruitingOBSERVATIONAL

Natural History of Photoreceptor Degeneration in USH1B: Clinical Parameters and Validation of Functional Vision Tests in MYO7A

This research study focuses on Usher syndrome type 1B, a serious genetic condition that leads to hearing loss from birth and progressive vision loss. There isn't a cure for it right now. Researchers are trying to understand how the vision loss develops and changes over many years in people with this specific type of Usher syndrome. They also want to test new ways to measure vision. This includes using special virtual reality tests and asking people to fill out questionnaires about their own experiences with their eyesight. The main aim is to get a clearer picture of the condition's progression and to develop better tools for future research and potentially new treatments. This information could be very helpful for individuals and families affected by Usher syndrome 1B.

At a glance

Status

Recruiting

Sponsor

Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts

Enrolment target

Start

13 Oct 2025

Estimated completion

01 Sep 2032

Usher Syndrome

What is this study about?

This research study is about a condition called Usher syndrome type 1B. Usher syndrome is a rare genetic condition that affects both hearing and vision. People with Usher syndrome type 1B are born with significant hearing loss and start to experience vision loss, often during childhood, which gets worse over time. Currently, there isn't a cure for this condition.

The main goal of this study is to better understand how the vision loss in Usher syndrome type 1B develops and progresses as people get older. This is called studying its "natural history." By carefully observing and recording how vision changes over several years, researchers hope to gain valuable insights that could help in the development of future treatments. They also want to find better ways to measure how well people see and how their vision affects their daily lives. This involves using new technologies like virtual reality tests and surveys where people describe their own vision.

Understanding the natural course of the disease and having effective ways to measure vision and its impact are really important steps. This information will help doctors and scientists design better clinical trials in the future. In the long run, this could lead to new treatments that slow down or stop the vision loss for people living with Usher syndrome type 1B.

Key takeaways

This study focuses on Usher syndrome type 1B, which causes hearing and progressive vision loss.
It aims to understand how vision changes over time (natural history).
New virtual reality tests and questionnaires are used to assess vision.
The study does not involve any experimental treatments.
Information gathered will help develop better future treatments.
Participation requires regular visits for tests and assessments.

Who may be eligible?

To be able to take part in this study, you would generally need to be at least 3 years old. You must have a diagnosis of Usher syndrome type 1, which means you have profound deafness from birth, balance problems, and a specific type of vision loss called retinitis pigmentosa. Your genetic tests also need to show you have changes (called biallelic variants) in the MYO7A gene.

There are also some things that would mean you couldn't join. For example, if you can't come to all the study appointments, or if you're already planning to start another experimental treatment during this study. You wouldn't be able to participate if you have other eye problems not related to Usher syndrome, or if you've been part of a specific gene therapy trial in the past.

For some parts of the study that involve special virtual reality tests, you would need to be between 18 and 75 years old and be able to understand instructions in French, either spoken or signed. If you have a cochlear implant, it needs to help you understand spoken instructions. You also shouldn't have any physical or mental health problems that would make it hard to do the walking or searching tasks, or be taking medicines that might affect your movement, vision, or thinking.

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 3 years old?
Do you have a diagnosis of Usher syndrome type 1 with specific gene changes (MYO7A)?
Are you able to attend all planned study appointments?
Do you have any other serious eye conditions not related to Usher syndrome?
For the virtual reality tests, are you between 18 and 75, and can you understand French instructions?

Answer every question to see your result.

What does participation involve?

If you join this study, your involvement would include several visits where different tests will be performed. These tests include various vision assessments to check your eyesight, special scans of your retina (the back of your eye) to see its health, and questionnaires to ask you about your vision and how it affects your daily life. Some participants will also take part in specific tests using virtual reality, which might involve navigating through simulated environments or searching for objects.

There are no medications or treatments involved in this study; it's purely for observation and testing. The total duration of your participation is not specified but studies of natural history usually involve follow-up visits over a period of time to track changes. You would need to commit to attending all scheduled appointments.

Potential risks and benefits

Taking part in this study may offer the benefit of a detailed assessment of your vision and general eye health, which could provide you with more information about your condition. The main risk involves the time commitment for study visits and the potential for discomfort or fatigue from the tests, including the virtual reality assessments. There are no direct medical risks as no experimental treatments are given. We want to assure you that deciding whether or not to participate is entirely up to you, and you have the right to withdraw from the study at any time without giving a reason, and it will not affect your medical care.

Locations (1)

Centre National d'Ophtalmologie des Quinze-Vingts
Verified postcode
Paris, France· Recruiting

Common questions

What is Usher syndrome type 1B?

It's a genetic condition causing severe hearing loss from birth and vision loss that gets worse over time, specifically due to changes in the MYO7A gene.

What is the study trying to find out?

Researchers want to understand how vision loss happens over time in Usher syndrome type 1B and test new ways to measure eyesight using virtual reality.

Will I receive any treatment if I join?

No, this study is about observation and testing, not giving treatments. Its aim is to gather information for future research.

How long will I need to be involved?

The study's total duration isn't specified, but natural history studies usually involve follow-up visits over some time to track changes in vision.

Can I leave the study if I change my mind?

Yes, you can withdraw from the study at any point, and it won't affect your medical care.

How to find out more

Isabelle AUDO, Pr

isabelle.audo@inserm.fr +330140021430 Official trial record

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