Gene therapy for hearing loss caused by otoferlin gene mutations

A Trial of AAVAnc80-hOTOF Gene Therapy in Individuals With Sensorineural Hearing Loss Due to Otoferlin Gene Mutations

Phase1; Phase2 Interventional Akouos, Inc. · NCT05821959

This study is testing a new gene therapy to see if it can help restore hearing in people with severe hearing loss caused by mutations in the otoferlin gene.

Quick facts

PhasePhase1; Phase2
Study typeInterventional
Enrollment22 (estimated)
SexAll
SponsorAkouos, Inc. Industry-sponsored
Locations9 sites (San Francisco, California and 8 other locations)
Trial IDNCT05821959 on ClinicalTrials.gov

What this trial studies

This clinical trial aims to evaluate the safety and tolerability of a gene therapy treatment for profound bilateral sensorineural hearing loss caused by mutations in the otoferlin gene. Participants will receive a single unilateral administration of one of two dose levels of the AAVAnc80-hOTOF gene therapy via the Akouos delivery device. The study will assess the effectiveness of this approach in restoring hearing function in affected individuals. The trial is divided into two phases, focusing on different dose levels to determine the optimal treatment strategy.

Who should consider this trial

Good fit: Ideal candidates for this study are individuals of any age with at least two mutations in the otoferlin gene and profound bilateral sensorineural hearing loss.

Not a fit: Patients with persistent ear infections, anatomical abnormalities of the ear, or those with bilateral cochlear implants may not benefit from this study.

Why it matters

Potential benefit: If successful, this therapy could significantly improve hearing in patients with otoferlin gene-mediated hearing loss.

How similar studies have performed: Other studies have shown promise in gene therapy approaches for hearing loss, but this specific application of otoferlin gene therapy is novel.

Eligibility criteria

Show full inclusion / exclusion criteria
Criteria for Inclusion:

1. Participants may be of any age, based on Cohort Criteria
2. At least two mutations in the otoferlin gene
3. Clinical presentation of Profound bilateral sensorineural hearing loss as assessed by ABR
4. Preserved distortion product otoacoustic emissions (DPOAEs)
5. Able and willing to comply with all study requirements, including willingness to participate in a separate long term follow-up study after completion of this trial

Criteria for Exclusion:

1. Persistent ear infections, anatomic or other abnormalities of the ear, and/or medical conditions that would contraindicate undergoing surgery, anesthesia, and/or administration of investigational gene therapy
2. Cochlear Implant(s) in the ear(s) to receive AAVAnc80-hOTOF
3. Prior participation in a clinical trial with an investigational drug, within six months prior to administration, or any prior participation in a gene therapy clinical trial

Where this trial is running

San Francisco, California and 8 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Sensorineural Hearing Loss, BilateralOtoferlinAuditory neuropathyDeafness, autosomal recessive 9Hearing lossHearing loss, bilateralHearing loss, sensorineural
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.