World's First Gene Therapy Trial Restores UK Toddler’s Deafness Since Birth

In a surgery lasting just 16 minutes, Opal received an infusion containing a functioning copy of the gene last September
A condition disrupting nerve impulses from the inner ear to the brain caused by a faulty gene known as OTOF. (Representational image: Unsplash)
A condition disrupting nerve impulses from the inner ear to the brain caused by a faulty gene known as OTOF. (Representational image: Unsplash)

An 18-month-old child from the UK has become the first person in the world to undergo an innovative gene therapy trial that restores her hearing issues. The toddler has been unable to hear anything since birth.

Opal Sandy, from Oxfordshire, suffered from auditory neuropathy, a condition disrupting nerve impulses from the inner ear to the brain caused by a faulty gene known as OTOF.

In a surgery lasting just 16 minutes, Opal received an infusion containing a functioning copy of the gene last September. The results were astonishing. Opal's mother, Jo Sandy, was surprised when she discovered that her daughter could now hear almost perfectly.

Jo Sandy recounted the moment they noticed Opal's response to noise, stating, “When she first turned, I couldn’t believe it." Changes were observed within four weeks post-surgery, and Opal's condition reportedly improved further after a few months.

When Opal could first hear us clapping unaided it was mind-blowing—we were so happy when the clinical team confirmed at 24 weeks that her hearing was also picking up softer sounds and speech. The phrase 'near normal' hearing was used and everyone was so excited such amazing results had been achieved
Jo Sandy, Opal's Mother

The trial, conducted at Addenbrooke’s Hospital, part of Cambridge University Hospitals NHS Foundation Trust, has delivered results exceeding expectations. Prof. Chief Study Investigator Manohar Bance, an ear surgeon at the trust, expressed hope that people with this kind of deafness might be cured by this therapy.

We have results from [Opal] which are very spectacular – so close to normal hearing restoration. So we do hope it could be a potential cure. My entire life, gene therapy has been ‘five years away’, and I’ve been in practice about 30 years. So, for me, it was almost unreal that this moment had arrived. It felt very special. It's wonderful seeing her respond to sound. It's a very joyful time
Prof Manohar Bance, Chief Study Investigator and an Ear Surgeon of the Trust
Auditory neuropathy is caused by a variation in the OTOF gene. (Representational image: Unsplash)
Auditory neuropathy is caused by a variation in the OTOF gene. (Representational image: Unsplash)

Opal's reaction to sounds of 25 to 30 dB, which are only marginally louder than the average human hearing threshold of 20 dB, shows the therapy's efficacy and its potential to make a significant impact on the lives of numerous individuals worldwide.

Auditory neuropathy is caused by a variation in the OTOF gene, inhibiting the production of otoferlin, a crucial protein enabling cells in the ear to communicate with the hearing nerve. The gene therapy, developed by biotech firm Regeneron, delivers a functional copy of the gene to the ear, overcoming the fault.

The success of Opal's treatment opens doors to a new era in the treatment of deafness, with experts hopeful that gene therapy could offer a cure for other types of profound hearing loss as well.

We would like to emphasise that, with the right support from the start, deafness should never be a barrier to happiness or fulfilment
Martin McLean, Senior Policy Adviser at the National Deaf Children’s Society

The trial, known as the CHORD trial, aims to recruit up to 18 children from the UK, Spain, and the US, with participants being followed up for five years. It consists of three phases, with children receiving varying doses of gene therapy in one or both ears, depending on the safety and effectiveness observed in earlier phases.

(Input from various media sources)

(Rehash/ Susmita Bhandary/MSM)

A condition disrupting nerve impulses from the inner ear to the brain caused by a faulty gene known as OTOF. (Representational image: Unsplash)
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