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Aavanc80-5’Hotof

Clinical trials are currently underway to evaluate the safety and effectiveness of Aavanc80-5’Hotof, a groundbreaking gene therapy designed to treat sensorineural hearing loss caused by mutations in the otoferlin gene (OTOF). This innovative treatment aims to restore hearing in patients with this genetic condition by delivering a functional copy of the OTOF gene directly to the inner ear. The trials involve both initial treatment and long-term follow-up studies to assess the therapy’s safety, efficacy, and potential long-term benefits for patients with this rare form of hearing loss.

Table of Contents

What is AAVAnc80-5’HOTOF?

AAVAnc80-5’HOTOF is an innovative gene therapy medication being developed to treat a specific type of hearing loss. It is part of a treatment called AAVAnc80-hOTOF, which consists of two components: AAVAnc80-5’HOTOF and AAVAnc80-3’HOTOF[1]. This therapy is currently being studied in clinical trials to evaluate its safety and effectiveness.

How does it work?

AAVAnc80-hOTOF is a gene therapy that uses a special type of virus called AAV (adeno-associated virus) to deliver a healthy copy of the otoferlin gene (OTOF) to the inner ear. The therapy is designed to replace the faulty gene that causes hearing loss in some people[1].

The treatment uses a “dual vector approach”, which means it uses two separate components (AAVAnc80-5’HOTOF and AAVAnc80-3’HOTOF) to deliver the complete gene. This is necessary because the OTOF gene is too large to fit into a single AAV vector[1].

What condition does it treat?

AAVAnc80-hOTOF is being developed to treat otoferlin gene-mediated hearing loss. This is a type of sensorineural hearing loss caused by mutations in the otoferlin gene[1]. People with this condition typically have profound hearing loss from birth, which means they have very little or no hearing ability.

Clinical Trials

The treatment is currently being studied in clinical trials to determine its safety and effectiveness. There are two main studies:

  1. A Phase 1/2 trial (study number 2023-505128-76-00) that aims to assess the safety, tolerability, and initial effectiveness of AAVAnc80-hOTOF[1].
  2. A long-term follow-up study (study number 2024-512584-31-00) to evaluate the long-term safety and efficacy of the treatment[2].

Administration

AAVAnc80-hOTOF is administered through a procedure called intracochlear administration. This means the medication is delivered directly into the cochlea, which is part of the inner ear[1]. The procedure is performed by a healthcare professional using a special delivery device.

Eligibility

The clinical trials have specific criteria for who can participate. Some key eligibility factors include:

  • Age: Participants must be between 2 and 17 years old at the time of treatment[1].
  • Genetic confirmation: Participants must have confirmed mutations in both copies of their OTOF gene[1].
  • Hearing loss severity: Participants must have profound bilateral sensorineural hearing loss[1].
  • Preserved outer hair cell function: This is assessed through a test called otoacoustic emissions (OAEs)[1].

Safety and Efficacy

The main goals of the clinical trials are to assess the safety and effectiveness of AAVAnc80-hOTOF. Researchers are looking at:

  • The frequency and types of side effects (adverse events) related to the treatment[1].
  • Changes in hearing ability, measured through various hearing tests[1][2].
  • Improvements in speech recognition and other hearing-related abilities[2].

Long-Term Follow-Up

Participants who receive AAVAnc80-hOTOF in the initial trial will be invited to participate in a long-term follow-up study. This study aims to monitor the safety and effectiveness of the treatment over an extended period[2]. This is important because gene therapies can have long-lasting effects, and it’s crucial to understand both the benefits and any potential risks over time.

In conclusion, AAVAnc80-5’HOTOF, as part of the AAVAnc80-hOTOF gene therapy, represents a promising approach to treating otoferlin gene-mediated hearing loss. While still in the clinical trial phase, this innovative treatment offers hope for individuals with this rare form of genetic hearing loss. As research continues, we will learn more about its safety, effectiveness, and long-term outcomes.

Aspect Details
Treatment Aavanc80-5’Hotof gene therapy
Target Condition Sensorineural hearing loss due to otoferlin gene mutations
Administration Method Intracochlear injection
Age Group 2-17 years old
Primary Objectives Assess safety, tolerability, and bioactivity of the therapy
Secondary Objectives Evaluate long-term efficacy and improvements in hearing function
Key Inclusion Criteria Confirmed biallelic OTOF mutations, profound bilateral hearing loss, preserved outer hair cell function
Follow-up Duration Initial 1-year follow-up, with additional long-term study
Primary Endpoints Adverse events, changes in ABR thresholds
Secondary Endpoints Behavioral audiometry, speech recognition, auditory questionnaires

FAQ

  • What is Aavanc80-5'Hotof and how does it work? Aavanc80-5'Hotof is a gene therapy that uses a modified virus (AAVAnc80) to deliver a healthy copy of the otoferlin gene to the inner ear. It aims to treat sensorineural hearing loss caused by mutations in the otoferlin gene by providing cells with the correct genetic instructions to produce the otoferlin protein, which is essential for normal hearing.
  • Who is eligible for the clinical trials involving Aavanc80-5'Hotof? The trials are primarily focused on children and adolescents aged 2 to 17 years old who have been diagnosed with sensorineural hearing loss due to mutations in both copies of their otoferlin gene. Participants must meet specific criteria, including having profound bilateral hearing loss and preserved outer hair cell function in the ear being treated.
  • How is the gene therapy administered? Aavanc80-5'Hotof is administered through a surgical procedure directly into the cochlea, which is part of the inner ear. The therapy is delivered using a special device designed for this purpose, ensuring precise placement of the gene therapy solution.
  • What are the main goals of the clinical trials? The primary goals of the trials are to assess the safety and tolerability of Aavanc80-5'Hotof at different dose levels, evaluate its effectiveness in improving hearing, and monitor for any potential side effects or long-term impacts of the treatment. The studies also aim to measure improvements in auditory function and speech recognition over time.
  • How long will participants be monitored after receiving the treatment? Participants will be monitored closely for at least one year after receiving the gene therapy as part of the initial trial. Additionally, there is a separate long-term follow-up study that will continue to evaluate the safety and efficacy of the treatment for an extended period, potentially several years after the initial administration.

Ongoing Clinical Trials on Aavanc80-5’Hotof

  • Study on Long-Term Safety of AAVAnc80-hOTOF Gene Therapy for Patients with Sensorineural Hearing Loss Due to Otoferlin Gene Mutations

    Recruiting

    1 1 1
    Investigated drugs:
    Spain

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

    Not yet recruiting

    1 1
    Investigated drugs:
    Spain

Glossary

  • Sensorineural hearing loss: A type of hearing loss caused by damage to the inner ear or the nerve pathways from the inner ear to the brain. In this case, it's specifically caused by mutations in the otoferlin gene.
  • Otoferlin gene (OTOF): A gene that provides instructions for making a protein called otoferlin, which is crucial for the proper functioning of hair cells in the inner ear and essential for normal hearing.
  • Gene therapy: A technique that uses genes to treat or prevent disease. In this case, it involves delivering a healthy copy of the OTOF gene to replace the faulty one.
  • AAVAnc80: A type of virus (adeno-associated virus) that has been modified to safely deliver genetic material into cells. It serves as the delivery vehicle for the healthy OTOF gene in this therapy.
  • Intracochlear administration: The process of delivering a substance directly into the cochlea, which is part of the inner ear responsible for converting sound vibrations into nerve signals.
  • Auditory Brainstem Response (ABR): A test that measures the brain's response to sound and is used to assess hearing function, particularly in infants and young children.
  • Otoacoustic Emissions (OAEs): Sounds generated by the inner ear, specifically the outer hair cells. The presence of OAEs indicates that these cells are functioning properly.
  • Tympanometry: A test that measures the movement of the eardrum in response to changes in air pressure, used to evaluate the function of the middle ear.
  • Bilateral: Affecting both sides. In this context, it refers to hearing loss in both ears.
  • Vestibular: Relating to the inner ear organs that contribute to balance and spatial orientation.

References

  1. http://clinicaltrials.eu/trial/study-on-gene-therapy-aavanc80-hotof-for-patients-with-sensorineural-hearing-loss-from-otoferlin-gene-mutations/
  2. http://clinicaltrials.eu/trial/study-on-long-term-safety-of-aavanc80-hotof-gene-therapy-for-patients-with-sensorineural-hearing-loss-due-to-otoferlin-gene-mutations/