RecruitingOBSERVATIONAL

Otoferlin Patient Registry and Natural History Study

This study is gathering important health information from people in the UK and Germany who have hearing loss because of a change in a gene called otoferlin. This is known as a 'registry' and helps researchers learn more about how this type of hearing loss develops over time. By collecting details about people's genes and their hearing, scientists hope to better understand the condition. This improved understanding could eventually lead to new and better ways to help people with otoferlin-related hearing loss, making sure they get care that's just right for them.

At a glance

Status

Recruiting

Sponsor

Tobias Moser

Enrolment target

100

Start

21 Feb 2023

Estimated completion

21 Feb 2048

What is this study about?

This study is called a 'registry,' which means it's a bit like a secure database where important health information is collected and stored. It's specifically for people who have hearing loss caused by a faulty 'otoferlin' gene. Think of genes as instructions inside our bodies; sometimes, there's a tiny mistake in these instructions that can lead to health conditions, like certain types of hearing loss.

The main goal of this registry is to learn more about otoferlin-related hearing loss. This includes understanding how it affects people over time – what we call its 'natural history' – and the different kinds of changes that can happen in the otoferlin gene. By bringing all this information together, doctors and scientists can get a clearer picture of the condition.

Ultimately, the researchers hope that by understanding otoferlin-related hearing loss better, they can pave the way for new and more personalised treatments. This means finding therapies that are designed specifically for people with this condition, helping to improve their hearing and overall quality of life.

Key takeaways

It's a registry to collect information about otoferlin-related hearing loss.
Aims to understand this type of hearing loss better for future treatments.
Uses existing genetic and hearing test results; no new appointments or medications.
Suitable for people with hearing loss confirmed to be due to otoferlin gene changes.
Helps scientists and doctors worldwide learn more about the condition.

Who may be eligible?

To be part of this study, you need to have been diagnosed with hearing loss that genetic tests have shown is due to changes in both copies of your otoferlin (OTOF) gene. You would also need to have had your hearing tested (audiometry) in the past.

This means that if your hearing loss is known to be caused by a different gene or reason, this particular study would not be the right fit for you. The study is open to people of all ages and genders.

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.

Has a doctor told me my hearing loss is due to a gene?
Do I have a confirmed diagnosis of changes in both copies of my otoferlin (OTOF) gene?
Have I had hearing tests (audiometry) that show my hearing levels?
Is my hearing loss NOT caused by a different gene or condition?

Answer every question to see your result.

What does participation involve?

If you join this study, you won't need to take any new medications or attend extra appointments. Instead, the researchers will collect information that already exists from your medical records. This will include details about your genetic tests that showed changes in your otoferlin gene, and also results from any hearing tests you've had in the past. This is an information-gathering study, so there are no specific study visits or follow-ups required from you beyond your usual medical care. The duration of your participation refers to how long your existing information is included in the registry, rather than a period of active involvement from you.

Potential risks and benefits

The main benefit of taking part is contributing to a better understanding of otoferlin-related hearing loss, which could lead to new and improved treatments in the future. There are no direct medical benefits to you personally from joining. Because this study only involves collecting existing information from your medical records, there are very few risks. Your personal information will be kept private and handled carefully. You are always free to decide to withdraw your consent and have your information removed from the registry at any time, without it affecting your medical care.

Locations (1)

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

University Medical Center Goettingen
Unverified
Goettigen, Germany· Recruiting

Common questions

What is otoferlin?

Otoferlin is a gene that plays a vital role in our hearing. Changes or 'variants' in this gene can lead to a specific type of hearing loss.

Will I have to take new medicine?

No, this study does not involve taking any new medicines or undergoing any experimental treatments. It's about collecting information.

Will I need extra doctor's appointments?

No, you won't need any additional appointments for this study. Researchers will use information from your existing medical records.

Who is running this study?

This study is being run by researchers, and its design has been approved by the Ethics Committee of the University Medical Center Göttingen, ensuring it follows strict ethical guidelines.

Can I leave the study if I change my mind?

Yes, you can withdraw your consent to be part of the registry at any time, and your decision will not affect your medical care.

How to find out more

Barbara Vona, PhD

barbara.vona@med.uni-goettingen.de +49-551-38-51337 Official trial record

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