RecruitingPHASE1, PHASE2INTERVENTIONAL

Gene Therapy Trial for Otoferlin Gene-mediated Hearing Loss

This clinical trial is investigating a new gene therapy for people with severe, profound hearing loss in both ears, specifically when it's caused by a problem with the otoferlin gene. The main goal is to see if this gene therapy, called AAVAnc80-hOTOF, is safe and can be tolerated by the body when delivered surgically to one or both ears. Researchers will also be assessing how well a special device works to deliver the treatment precisely. The study will test two different doses of the therapy. This is an early-stage trial (Phase 1/2), which means it’s one of the first times this treatment is being tested in people.

At a glance

Status

Recruiting

Phase

PHASE1, PHASE2

Sponsor

Akouos, Inc.

Enrolment target

Start

15 Sep 2023

Estimated completion

01 Oct 2028

Sensorineural Hearing Loss, Bilateral

What is this study about?

This clinical trial is about a new type of treatment called gene therapy for individuals who have profound hearing loss. This specific type of hearing loss is caused by a problem with a gene called otoferlin. Genes are like instruction manuals for our bodies, and when the otoferlin gene isn't working correctly, it can lead to severe hearing difficulties.

The therapy being tested is designed to deliver a correct version of the otoferlin gene to the inner ear. The aim is for this new gene to help the cells in the ear work properly and, hopefully, improve hearing. Researchers will be giving this gene therapy directly into the ear using a special delivery device during a surgical procedure. Their first priority is to make sure this treatment and its delivery method are safe and can be tolerated by people.

This is an important step because if successful, gene therapy could offer a completely new way to treat certain types of inherited hearing loss, potentially restoring some hearing rather than just helping people manage their existing hearing with devices like hearing aids.

Key takeaways

This trial is for profound hearing loss caused by the otoferlin gene.
It's testing a new gene therapy delivered directly into the ear.
The primary focus is on safety and how well the treatment is tolerated.
Researchers will also assess the special device used for delivery.
Participation includes surgery and long-term follow-up.
It's an early-stage study, so potential benefits and risks will be discussed fully.

Who may be eligible?

To be considered for this study, you would need to have profound hearing loss in both ears, which has been confirmed by tests. This hearing loss must be due to specific changes (mutations) in the otoferlin gene. You would also need to have certain inner ear functions still working, which doctors will test for.

There are also some reasons why you might not be able to join. For example, if you have ongoing ear infections, any abnormalities with your ear that would make surgery difficult, or if you've recently taken part in another clinical trial involving an investigational drug. Importantly, if you have a cochlear implant in the ear that would receive the treatment, you wouldn't be eligible for that ear.

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.

Do you have severe, profound hearing loss in both ears?
Has your hearing loss been diagnosed as being due to a problem with the otoferlin gene?
Do you have certain inner ear functions still working (your doctor can check this)?
Have you *not* had any ongoing ear infections or conditions affecting ear surgery?
Do you *not* have a cochlear implant in the ear that might receive treatment?

Answer every question to see your result.

What does participation involve?

If you join this study, you would undergo a surgical procedure where the gene therapy is administered directly into one or both of your ears. There are two different dose levels of the therapy being tested. After the procedure, you'd have regular check-ups and assessments to monitor your health, how well you're tolerating the treatment, and if there are any changes in your hearing. You would also be asked to participate in a separate, long-term follow-up study for several years after this trial finishes, to continue monitoring your health and the effects of the treatment over time. The total duration of active participation in the main trial would involve a series of visits over a period that will be explained in detail.

Potential risks and benefits

Participating in a clinical trial offers the potential benefit of accessing an innovative treatment that is not yet widely available, and it contributes to advancing medical knowledge. However, as with any new treatment, there are potential risks, including side effects from the gene therapy or complications from the surgical procedure, which will be thoroughly explained. You would always have the right to withdraw from the study at any time, for any reason, without affecting your standard medical care.

Locations (9)

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

University of California, San Francisco Benioff Children's Hospital
Verified postcode
San Francisco, United States· Recruiting
University of Iowa
Verified postcode
Iowa City, United States· Recruiting
Boston Children's Hospital
Verified postcode
Boston, 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 Bill Wilkerson Center
Verified postcode
Nashville, United States· Recruiting
The Hospital for Sick Children Jaina.negandhi@sickkids.ca +1 (416) 813 6683
Verified postcode
Toronto, Canada· Recruiting
National Taiwan University Hospital
Verified postcode
Taipei, Taiwan· Recruiting
University College London
Verified postcode
London, United Kingdom· Recruiting

Common questions

What is gene therapy?

Gene therapy is a medical approach that aims to treat diseases by introducing, removing, or changing genetic material (DNA or RNA) within a patient's cells.

What is the otoferlin gene?

The otoferlin gene provides instructions for making a protein that is essential for hearing. When this gene has faults, it can lead to profound hearing loss.

Will my hearing definitely be restored?

This is an early-stage study primarily focused on safety. While the goal is to improve hearing, there's no guarantee of hearing restoration or improvement.

Is the treatment given to both ears?

The treatment may be given to one or both ears, depending on the study design and your specific situation, which will be discussed with you.

What does a Phase 1/2 trial mean?

This means it's an early-stage trial. Phase 1 focuses on safety and dosage, while Phase 2 looks at how well the treatment works and continues to monitor safety.

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.