Deaf girl can hear again thanks to gene therapy

Gene therapy is increasingly beginning to deliver on its promises. Thanks to experimental technology, a one-and-a-half-year-old British girl born deaf can hear her parents again. “It was…bonkers,” says the mother.

Opal Sandy was born completely deaf 18 months ago due to auditory neuropathy, a condition in which signals from the inner ear do not properly reach the brain. The cause is a defect in one specific gene.

Just before her first birthday, the child was given a working copy of the defective gene through an IV in a procedure that took just 16 minutes. The treatment – developed by the American biotech company Regeneron – was done at the Addenbrooke Hospital, which is affiliated with the University of Cambridge.

Opal Sandy was the first patient in the world to participate in the groundbreaking study, reports the British health service NHS.

Four weeks after the operation, little Opal started responding to sounds, and now she also responds to her parents’ voices, even hears whispers and can say words like ‘daddy’ and ‘dada’.

Her parents were ‘stunned’, they said in the British media. “I couldn’t really believe it,” Opal’s mother said. ‘It was… bonkers.’

According to professor and ear specialist Manohar Bance, who oversaw the research, the results are spectacular and better than expected. “This is hopefully the beginning of a new era for gene therapy for the inner ear and for many types of hearing loss,” he concluded hopefully.

The treatment is currently still in an experimental stage and is not yet available on the market. After Opal Sandy, more deaf children from the UK, Spain and the US are being recruited for the study.

Gene therapy has long been recognized as a promising technology to tackle diseases at their root. Technology is increasingly beginning to deliver on the promise of diseases in which one defective or missing gene causes all the problems. By replacing or cutting and pasting that gene, the pharmaceutical industry is bringing new hope to more and more patients.

Zolgensma is a well-known example who was in the spotlight in Belgium because of baby Pia. It is a one-time gene therapy against a fatal muscle disease in babies, spinal muscular atrophy (SMA).

With crispr-cas, a genetic cut and paste technology, the biotech industry has a new, powerful technique for tinkering with genetic defects. Europe recently approved the first CRISPR-Cas treatment for patients suffering from the hereditary blood diseases sickle cell anemia and beta-thalassemia. The United Kingdom and the United States previously gave their blessing to Casgevy, the treatment of American Vertex Pharmaceuticals and the Swiss-American Crispr Therapeutics.