Study on Gene Therapy AAVAnc80-hOTOF for Patients with Sensorineural Hearing Loss from Otoferlin Gene Mutations

1 1

What is this study about?

This clinical trial is focused on studying a condition known as sensorineural hearing loss, which is caused by mutations in the Otoferlin gene (OTOF). The treatment being tested is a gene therapy called AAVAnc80-hOTOF. This investigational treatment uses a special type of virus, called an adeno-associated viral (AAV) vector, to deliver a healthy version of the OTOF gene to the inner ear. The therapy is administered directly into the cochlea, which is the part of the ear responsible for hearing, using a sterile delivery device.

The purpose of the study is to evaluate the safety and effects of different doses of AAVAnc80-hOTOF in individuals with this specific type of hearing loss. Participants will receive the treatment through an injection into the cochlea, and the study will monitor their response over time. The trial will assess how well the treatment is tolerated and whether it has any impact on hearing ability.

Throughout the study, participants will undergo various tests, including auditory brainstem response (ABR) testing, to measure changes in their hearing. The study aims to gather information on any side effects related to the treatment and the procedure used to administer it. This research is expected to continue until 2028, providing valuable insights into the potential of gene therapy for treating hearing loss caused by OTOF mutations.

1 joining the study

Upon joining the study, eligibility is confirmed based on specific criteria, including age and genetic testing for OTOF gene mutations.

Participants must have profound bilateral sensorineural hearing loss and preserved otoacoustic emissions in the study ear.

2 administration of gene therapy

The investigational product, AAVAnc80-hOTOF, is administered as a solution for injection directly into the cochlea (inner ear).

The objective is to assess safety, tolerability, and bioactivity of the treatment.

3 monitoring and follow-up

Participants are monitored for any adverse effects related to the treatment or the procedure.

Regular assessments include changes in auditory brainstem response (ABR) testing thresholds to evaluate hearing improvements.

4 long-term follow-up

Participants are expected to engage in a long-term follow-up protocol after the completion of the trial to monitor ongoing effects and safety.

Who Can Join the Study?

Age between seven and 17 years old for one group; age between two and 17 years old for other groups at the time of treatment.
Have changes in both copies of the OTOF gene, confirmed by a specific genetic test. The OTOF gene is related to hearing.
Show signs of Profound bilateral sensorineural hearing loss, which means very severe hearing loss in both ears, as determined by a specific hearing test called ABR. This test checks how the brain responds to sound.
Have normal OAEs in the study ear. OAEs are sounds that the ear produces in response to a sound, and they help check if the ear is working properly.
If able to have children, agree to use effective birth control methods for one year after treatment. This applies to both males and females who can have children.
The person responsible for the participant, or the participant themselves, must agree to follow all trial requirements and complete the consent process.
The person responsible for the participant, or the participant themselves, must agree to take part in a separate follow-up study after this trial is completed.

Who Cannot Join the Study?

Individuals who do not have Otoferlin gene-mediated hearing loss cannot participate. This is a specific type of hearing loss caused by changes in the otoferlin gene.
Participants must be within the specified age range, which is typically defined by the study. If you are outside this age range, you cannot join.
Both male and female participants are allowed, but if the study has specific gender requirements, those not meeting them cannot participate.
If you belong to a vulnerable population, such as children or individuals unable to give consent, you may not be eligible unless specific provisions are made.

Where you can join this trial?

Verified and Recommended Sites

No sites found in this category

Verified Sites

No sites found in this category

Other Sites

Site Name	City	Country	Status
Hospital Sant Joan De Deu Barcelona	Esplugues De Llobregat	Spain

Trial status

Country	Status	Recruitment Start
Spain	Not yet recruiting	01.10.2023

Trial locations

Investigated drugs:

AAVAnc80-hOTOF is a gene therapy being studied for its potential to help individuals with sensorineural hearing loss caused by mutations in the otoferlin gene. This therapy uses a specially designed virus to deliver a healthy copy of the otoferlin gene to the cells in the ear, with the aim of restoring hearing function. The trial is focused on evaluating how safe and tolerable this therapy is, as well as how effectively it works at different dose levels.

Otoferlin Gene-Mediated Hearing Loss – This is a genetic condition that affects hearing due to mutations in the otoferlin gene. The otoferlin gene is crucial for the proper functioning of hair cells in the inner ear, which are responsible for converting sound waves into nerve signals. When this gene is mutated, it disrupts the normal process of hearing, leading to hearing loss. The condition is typically present from birth and can vary in severity. It primarily affects the ability to hear high-frequency sounds, which can impact speech and language development. The progression of hearing loss can be stable or may worsen over time, depending on the specific genetic mutation.

Trial ID:

2023-505128-76-00

Protocol code:

AK-OTOF-101

NCT ID:

NCT05821959

Trial Phase:

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

Other Trials to Consider

#1 Clinical Trials Search in Europe

Study on Gene Therapy AAVAnc80-hOTOF for Patients with Sensorineural Hearing Loss from Otoferlin Gene Mutations

What is this study about?

Who Can Join the Study?

Who Cannot Join the Study?