AuthorisedPhase I and Phase II (Integrated)- First administration to humansInterventional

A Phase 1/2 Trial of AAVAnc80-hOTOF Gene Therapy in Individuals with Sensorineural Hearing Loss due to Biallelic Otoferlin Gene (OTOF) Mutations

This research is looking at a new treatment called gene therapy for individuals who have hearing loss because of changes in a specific gene called otoferlin. This condition is also known as otoferlin gene-mediated hearing loss. The treatment, named AAVAnc80-hOTOF, is an early-stage study (Phase 1/2) meaning it's one of the first times it's being tested in people. The main goal is to find out how safe the treatment is and if there are any side effects from the treatment itself or from the way it's given. Doctors will also check if there are any changes in hearing using special tests.

At a glance

Status

Authorised

Phase

Phase I and Phase II (Integrated)- First administration to humans

Sponsor

Akouos Inc.

Enrolment target

Start

05 Oct 2023

Otoferlin gene-mediated hearing loss

What is this study about?

This study is about a type of hearing loss that's caused by a problem with a specific gene in the body called the otoferlin gene. This gene is really important for how our ears work and send sounds to our brain. If there are changes or 'mutations' in both copies of this gene, it can lead to significant hearing loss.

The researchers are testing a new treatment called gene therapy. Gene therapy works by trying to fix the underlying problem causing the condition. In this case, the treatment, called AAVAnc80-hOTOF, aims to deliver a healthy copy of the otoferlin gene into the cells of the ear. The hope is that by providing this missing or faulty gene, the ear will be able to work properly again and improve hearing.

This is a 'Phase 1/2' trial, which means it's one of the very first times this specific treatment is being used in people. The main thing doctors want to learn at this stage is how safe the treatment is. They will be carefully watching for any side effects or problems that might happen because of the treatment or the way it's given. They will also do hearing tests to see if there are any signs that the treatment is working.

Key takeaways

This study is testing a new gene therapy for a specific type of genetic hearing loss.
The treatment is called AAVAnc80-hOTOF and aims to fix problems with the otoferlin gene.
It's an early-stage trial (Phase 1/2) focused primarily on the safety of the new treatment.
Participants will have regular health checks and hearing tests.
Anyone with hearing loss due to otoferlin mutations, regardless of age or sex, may be eligible.

Who may be eligible?

To join this study, you would need to have hearing loss that has been diagnosed as being caused by changes in both copies of your otoferlin gene. This is a very specific type of genetic hearing loss.

There are no age limits mentioned, meaning both children and adults might be able to take part. Also, anyone can take part, regardless of whether they are male or female.

Doctors will do some tests to make sure that the hearing loss is definitely due to the otoferlin gene before someone can join the study.

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 I have hearing loss?
Has my hearing loss been confirmed by a doctor to be caused by changes in the otoferlin gene?
Do I understand that this is an early-stage study checking for safety?
Am I willing to attend regular appointments for monitoring and testing?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, you would receive the investigational gene therapy called AAVAnc80-hOTOF. The way it's given will be carefully explained to you. Since this is an early-stage study focused on safety, you can expect to have many appointments with the study doctors and nurses. These visits will involve various tests and examinations to monitor your health closely and check for any side effects.

There will also be regular hearing tests, like the auditory brainstem response (ABR) test, to see if there are any changes in your hearing. You will likely have follow-up visits for a period after receiving the treatment to continue monitoring your safety and how you are doing. The total length of your participation will be discussed with you by the study team.

Potential risks and benefits

Taking part in a study like this comes with potential benefits and risks. A potential benefit could be an improvement in your hearing, although this is not guaranteed and the main goal of this early study is to check safety. As with any new treatment, there are potential risks, including side effects from the gene therapy itself or from the procedure to give you the treatment. The study doctors will explain all known and possible risks in detail. Remember, joining a study is always your choice, and you have the right to withdraw at any time without affecting your medical care.

Locations (1)

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

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Unverified
Spain

Common questions

What is gene therapy?

Gene therapy is a type of treatment that aims to fix the root cause of a disease by changing or replacing faulty genes in your body. In this study, it's about trying to deliver a healthy otoferlin gene.

What does 'biallelic mutations' mean?

It means you have a change or problem in both copies of the otoferlin gene – one inherited from your mother and one from your father. Both changes together cause the hearing loss.

What is a Phase 1/2 trial?

It's an early stage of human testing. Phase 1 focuses on safety and finding the right dose, while Phase 2 looks for early signs that the treatment works, often combined. It means this treatment is quite new.

Will my hearing definitely get better?

Improvement in hearing is hoped for in later stages, but the main aim of this particular study is to check how safe the treatment is and to monitor for any side effects. Hearing changes will be carefully checked.

What is an ABR test?

An Auditory Brainstem Response (ABR) test is a special hearing test that measures how your brain responds to sounds. It helps doctors understand how well your auditory system is working.