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Related Concept Videos

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Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
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Updated: Jan 15, 2026

Posterior Semicircular Canal Approach for Inner Ear Gene Delivery in Neonatal Mouse
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DB-OTO Gene Therapy for Inherited Deafness.

Vassili Valayannopoulos1, Manohar Bance2, Daniela S Carvalho3

  • 1Regeneron Pharmaceuticals, Tarrytown, NY.

The New England Journal of Medicine
|October 14, 2025
PubMed
Summary
This summary is machine-generated.

Gene therapy DB-OTO improved hearing in children with otoferlin (OTOF)-related deafness. This treatment enabled natural acoustic hearing for many, with some achieving normal hearing sensitivity.

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Area of Science:

  • Otolaryngology
  • Genetics
  • Molecular Biology

Background:

  • Congenital deafness can result from genetic otoferlin (OTOF) deficiency, impacting synaptic transmission in auditory hair cells.
  • Current treatments for OTOF-related deafness primarily involve cochlear implants, with limited medical therapies available.
  • DB-OTO is an investigational gene therapy utilizing adeno-associated virus 1 to deliver human OTOF cDNA via a hair cell-specific promoter.

Purpose of the Study:

  • To evaluate the safety and efficacy of DB-OTO gene therapy in children with OTOF-related congenital deafness.
  • To assess the potential for DB-OTO to restore natural acoustic hearing and reduce the need for cochlear implantation.

Main Methods:

  • An open-label, single-group, first-in-human study was conducted involving 12 children with OTOF variants and profound deafness (>90 dB HL).
  • Participants received an intracochlear infusion of DB-OTO (7.2×10^12 vector genomes/ear) in one or both ears.
  • Primary efficacy was measured by behavioral pure-tone audiometry (PTA) achieving ≤70 dB HL at 24 weeks; a key secondary endpoint was auditory brain-stem response (ABR) ≤90 dB nHL at 24 weeks.

Main Results:

  • Nine of 12 participants (75%) achieved the primary efficacy endpoint of PTA ≤70 dB HL and the secondary endpoint of ABR ≤90 dB nHL at 24 weeks.
  • Six participants gained the ability to hear soft speech without assistive devices, and three achieved average normal hearing sensitivity.
  • A total of 67 adverse events were reported, none of which necessitated study discontinuation.

Conclusions:

  • DB-OTO gene therapy demonstrated significant efficacy in improving hearing for children with OTOF-related deafness.
  • The treatment enabled natural acoustic hearing and normalized hearing sensitivity in a substantial proportion of treated patients.
  • DB-OTO represents a promising therapeutic approach for congenital deafness caused by otoferlin deficiency.