RecruitingOBSERVATIONAL

Otoferlin Gene-mediated Hearing Loss Natural History Study

This study is investigating a specific type of hearing loss caused by a genetic change in the otoferlin gene. It's a 'natural history' study, meaning researchers will observe how this condition develops and changes over time without giving any new treatments. They will look at existing medical records and also see participants regularly for checks. The aim is to gather important information about this hearing condition, which affects both ears, to better understand its features and how it progresses. This knowledge is crucial for helping to design and develop potential new treatments for otoferlin gene-related hearing loss in the future. The study is open to both children and adults up to the age of 44.

At a glance

Status

Recruiting

Sponsor

Akouos, Inc.

Enrolment target

150

Start

14 Jul 2022

Estimated completion

01 Feb 2029

Sensorineural Hearing Loss, Bilateral

What is this study about?

This research study is called an "Otoferlin Gene-mediated Hearing Loss Natural History Study." In simple terms, it's about understanding a specific kind of hearing loss that happens when there's a change or 'fault' in a gene called otoferlin. This gene is really important for how our inner ear works and helps us hear. When it doesn't work correctly, it can lead to hearing problems, often affecting both ears, and sometimes involves something called 'auditory neuropathy' – where the sounds get to the ear but aren't properly sent to the brain.

A "natural history study" means that researchers aren't testing a new treatment or medicine. Instead, they are carefully observing and collecting information about how a condition develops and progresses on its own, without any special interventions from the study. Think of it like watching how a plant grows over time, noting all the changes along the way. For this study, researchers will look at past medical notes (retrospective) and also follow participants into the future (prospective) by checking their hearing and other health details regularly.

The main goal is to gather a lot of detailed information about this specific otoferlin gene-related hearing loss. This will help doctors and scientists gain a much clearer picture of what to expect with this condition, how it affects people at different ages, and how it might change over the years. This deeper understanding is absolutely vital because it lays the groundwork for developing effective therapies and treatments in the future for individuals living with this type of hearing loss.

Key takeaways

This study focuses on understanding hearing loss caused by the otoferlin gene.
It's a 'natural history' study, meaning no new treatments are given.
Data will be collected from existing medical records and through future check-ups.
The goal is to learn how this specific hearing condition progresses over time.
This knowledge is crucial for developing future treatments.
Participants can be any age up to 44 years, with confirmed otoferlin gene changes.

Who may be eligible?

To join this study, whether you're a child or an adult up to 44 years old, you must have hearing loss in both ears. This hearing loss needs to be caused by a confirmed change in the otoferlin gene. You or your guardian must also be able to understand and agree to the study requirements. If you're going to be part of the ongoing checks, your ears should show specific types of responses when tested, even if they have some hearing loss.

There are certain reasons why someone might not be able to join. For example, if you or your child are unable or unwilling to follow the study plan. Also, if there are problems with the main hearing nerve or with the inner ear's structure itself, rather than just the otoferlin gene, you wouldn't be able to participate. If you have cochlear implants in both ears, or are planning to get them soon, or have other types of hearing implants, you can't join the ongoing part of the study.

The good news is that the study welcomes people of any gender, race, or background. The researchers are looking for a wide range of participants to ensure the findings are as helpful and accurate as possible for everyone affected by this condition.

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.

I (or my child/ward) have hearing loss in both ears.
My (or my child/ward's) hearing loss is confirmed to be due to a change in the otoferlin gene.
I am (or my child/ward is) aged 44 or younger.
I am willing to attend any required appointments and share medical information.
I (or my child/ward) do not have cochlear implants in both ears or severe problems with the hearing nerve itself.

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, the main thing you'll be doing is having your medical information, past and present, collected. This involves looking at existing medical records and, for some participants, attending regular follow-up visits. During these visits, you might have various hearing assessments and checks, similar to those you'd have at a routine ear appointment. These checks might include tests to see how your ears respond to sound or how your ear nerve works.

There are no new medications given as part of this study, as it's not a treatment trial. The focus is purely on observing and understanding your hearing condition as it naturally progresses. The frequency and total number of visits will depend on whether you're only contributing past records or also joining the ongoing monitoring. The study aims to follow participants for a period of time to track changes, but the exact duration for each individual might vary.

Potential risks and benefits

The main benefit of taking part in this study is contributing valuable information that will help doctors and scientists better understand otoferlin gene-related hearing loss. This knowledge is essential for developing potential new treatments and improving care for individuals with this condition in the future. Since no experimental treatments are being given, the risks are generally low. They might include the time and effort needed for visits, and the usual minor discomforts associated with standard hearing tests. Your participation is completely voluntary, and you are free to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (10)

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

University of Iowa
Verified postcode
Iowa City, United States· Recruiting
Cincinnati Children's Hospital Medical Center
Verified postcode
Cincinnati, United States· Recruiting
Children's Hospital of Philadelphia
Verified postcode
Philadelphia, United States· Recruiting
Vanderbilt University Medical Center
Verified postcode
Nashville, United States· Recruiting
Murdoch Children's Research Institute
Verified postcode
Parkville, Australia· Withdrawn
University Hospital in Tübingen
Verified postcode
Tübingen, Germany· Recruiting
Sant Joan de Déu Barcelona Hospital
Verified postcode
Esplugues de Llobregat, Spain· Recruiting
National Taiwan University Hospital
Verified postcode
Taipei, Taiwan· Recruiting
Ankara University
Verified postcode
Ankara, Turkey (Türkiye)· Recruiting
University College London
Verified postcode
London, United Kingdom· Recruiting

Common questions

What is a 'natural history' study?

It's a study where researchers observe how a health condition develops over time without trying any new treatments. It helps them understand the condition better.

Will I receive any new treatment in this study?

No, this study does not involve giving any new medications or treatments. Its purpose is to gather information about your existing hearing condition.

What does 'otoferlin gene-mediated' mean?

It means your hearing loss is caused by a specific change or 'fault' in a gene called otoferlin, which is important for hearing.

Do I have to live in a specific place to join?

The information provided doesn't specify location, but generally, studies are conducted at particular medical centres in the UK or internationally. You'd need to check with the study team.

Can children take part in this study?

Yes, individuals of any age up to 44 years can take part, so children are included, provided they meet all other requirements.

How to find out more

Akouos Clinical Trials

akouosclinicaltrials@lilly.com +1 857 410 1816 Official trial record

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