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Successful therapy of Otoferlin genetic deafness - trial


Autosomal recessive deafness 9, caused by mutations of the OTOF gene, is characterised by congenital or prelingual, severe-to-complete, bilateral hearing loss. However, no pharmacological treatment is currently available for congenital deafness. In this Article, we report the safety and efficacy of gene therapy with an adeno-associated virus (AAV) serotype 1 carrying a human OTOF transgene (AAV1-hOTOF) as a treatment for children with autosomal recessive deafness 9.


This single-arm, single-centre trial enrolled children (aged 1–18 years) with severe-to-complete hearing loss and confirmed mutations in both alleles of OTOF, and without bilateral cochlear implants. A single injection of AAV1-hOTOF was administered into the cochlea through the round window. The primary endpoint was dose-limiting toxicity at 6 weeks after injection. Auditory function and speech were assessed by appropriate auditory perception evaluation tools. All analyses were done according to the intention-to-treat principle. This trial is registered with Chinese Clinical Trial Registry, ChiCTR2200063181, and is ongoing.


Between Oct 19, 2022, and June 9, 2023, we screened 425 participants for eligibility and enrolled six children for AAV1-hOTOF gene therapy (one received a dose of 9 × 10¹¹ vector genomes [vg] and five received 1·5 × 10¹² vg). All participants completed follow-up visits up to week 26. No dose-limiting toxicity or serious adverse events occurred. In total, 48 adverse events were observed; 46 (96%) were grade 1–2 and two (4%) were grade 3 (decreased neutrophil count in one participant). Five children had hearing recovery, shown by a 40–57 dB reduction in the average auditory brainstem response (ABR) thresholds at 0·5–4·0 kHz. In the participant who received the 9 × 10¹¹ vg dose, the average ABR threshold was improved from greater than 95 dB at baseline to 68 dB at 4 weeks, 53 dB at 13 weeks, and 45 dB at 26 weeks. In those who received 1·5 × 10¹² AAV1-hOTOF, the average ABR thresholds changed from greater than 95 dB at baseline to 48 dB, 38 dB, 40 dB, and 55 dB in four children with hearing recovery at 26 weeks. Speech perception was improved in participants who had hearing recovery.


AAV1-hOTOF gene therapy is safe and efficacious as a novel treatment for children with autosomal recessive deafness 9.


National Natural Science Foundation of China, National Key R&D Program of China, Science and Technology Commission of Shanghai Municipality, and Shanghai Refreshgene Therapeutics.

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Do hearing aids slow down cognitive decline? 

The Aging and Cognitive Health Evaluation in Elders, or ACHIEVE, study is a multicenter randomized trial to determine if treating hearing loss in older adults reduces the loss of thinking and memory abilities (cognitive decline) that can occur with aging.

The ACHIEVE study also looks at other health outcomes, results of which will be published over time, including: mental health and well-being, physical function, and health care use.

What ACHIEVE found:

In older adults at increased risk for cognitive decline, hearing intervention slowed down loss of thinking and memory abilities by 48% over 3 years.

Participants in the ACHIEVE study came from two distinct study populations: a group of adults who were already participating in a heart health study and a group of healthy volunteers who were newly recruited from the community. The 238 participants who came from the heart health study were, on average, older and had more risk factors for cognitive decline than the 739 new healthy community volunteers. 

When both group of participants were analyzed together, the hearing intervention was not better than the health education control on slowing declines in thinking and memory abilities, at the end of the 3-year study.

When both groups of participants were analyzed separately, researchers found that the effect of hearing intervention differed significantly between the two groups of participants: 

  • Hearing intervention benefited the heart health study participants the most. These participants were older and had more risk factors for cognitive decline. In this group, the hearing intervention reduced cognitive change by 48% over 3 years.
  • In the newly recruited healthy volunteer group, hearing intervention had no effect on reducing cognitive decline within 3 years.

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(09) 631 1965