Zheng-Yi Chen, D.Phil. Department of Otolaryngology-Head and Neck Surger Harvard Medical School Boston, MA

Gene Therapy Restores Hearing In Trial of Autosomal Recessive Pediatric Deafness

MedicalResearch.com Interview with:

Zheng-Yi Chen, D.Phil.Department of Otolaryngology-Head and Neck Surger Harvard Medical School Boston, MA

Dr. Zheng-Yi Chen

Zheng-Yi Chen, D.Phil.
Department of Otolaryngology-Head and Neck Surger
Harvard Medical School
Boston, MA

MedicalResearch.com: What is the background for this study?  Would you briefly explain the process and indication

Response: This clinical trial is to use gene therapy to treat a type of genetic hearing loss. Genetic hearing loss mainly affects children. One in 600 newborns can have genetic hearing loss. There is no drug treatment for any type of hearing loss except for cochlear implants, which have limitations. This study focuses on a type of genetic hearing loss, DFNB9, due to a missing gene called Otoferlin. Without Otoferlin,  children are born with complete hearing loss and without the capacity to speak. The goal of the trial is to study if gene therapy is safe and efficacious in treating children so they can regain hearing and the ability to speak.

MedicalResearch.com: What are the main findings?

Response:  We treated 6 children 1-6 years of age. There is no safety issue associated with the study. Five children had the restoration of hearing from complete hearing loss before the treatment. They can understand the meaning of words and have conversations, including phone calls.  While hearing restoration is not 100%, it is very significant that they can participate in activities relatively normally. Hearing started to recover one month after treatment and continued to be better for up to 1 year. For example, a one-year-old child who could not hear or speak before can respond to verbal instructions, say simple words, and dance to the music. We are continuing the study by enrolling more patients with longer follow up. We want to develop this to an one time treatment with the effect that lasts for years if not a life time.

MedicalResearch.com: What should readers take away from your report?

Response: There has never been any treatment for any type hearing loss, including genetic hearing loss. This is the first time that a child born with complete hearing loss can regain hearing after gene therapy. It shows a bright future for new treatments for children with this type of genetic hearing loss. Also importantly, it supports that a similar gene therapy approach could work for many other forms of genetic hearing loss (there are over 150). We are working on many forms of genetic hearing loss and this study will accelerate the process to develop more treatments. 

MedicalResearch.com: What recommendations do you have for future research as a results of this study?

Response: If your child has hearing loss, please get tested to determine if it’s genetic. If yes, what type of genetic mutation is involved? This information is critical to us in the design of clinical trials so we can enroll patients quickly. This study benefited greatly from having many patients enrolled.

Disclosures: This study is a collaboration led by Dr. Yilai Shu of Shanghai Fudan Eye & ENT Hospital and Dr. Zheng-Yi Chen of Harvard Medical School and Massachusetts Eye & Ear. The main funding sources are National Natural Science Foundation of China and the Shanghai Refreshgene Therapeutics Co.


AAV1-hOTOF Gene Therapy for Autosomal Recessive Deafness 9: a single-arm 2 trial
Lv, Jun et al.
The Lancet, Volume 0, Issue 0


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Last Updated on January 29, 2024 by Marie Benz MD FAAD