Feb 20, 2023 20:00:00

Britain's first ``gene therapy'' that recombines genes was successfully performed on babies, and the signs of genetic diseases with an average life expectancy of 5 to 8 years disappeared and became healthy

The UK's National Health Service (NHS) announced on February 15, 2023 that the country's first gene therapy for

metachromatic leukodystrophy (MLD) was performed on a 19-month-old baby. The treatment, which removes the cells, recombines the defective gene, and then puts it back in, was reportedly successful, and the baby was discharged from the hospital in good health.

NHS England » First baby receives life-saving gene therapy on NHS
https://www.england.nhs.uk/2023/02/first-baby-receives-life-saving-gene-therapy-on-nhs/

1st UK child to receive gene therapy for fatal genetic disorder is now 'happy and healthy' | Live Science
https://www.livescience.com/1st-uk-child-to-receive-gene-therapy-for-fatal-genetic-disorder-is-now-happy-and-healthy

Girl with deadly inherited condition is cured with gene therapy on NHS |
https://www.theguardian.com/society/2023/feb/15/girl-with-deadly-inherited-condition-mld-cured-gene-therapy-libmeldy-nhs

What is Libmeldy? Novel genetic therapy used to treat MLD | NationalWorld
https://www.nationalworld.com/health/what-is-libmeldy-novel-genetic-therapy-used-treat-metachromatic-leukodystrophy-mld-explained-4028422

Metachromatic leukodystrophy (MLD) is a genetic disorder caused by a defect in the gene that degrades sulfatide , a lipid that acts like an insulator in the cranial nerves. As a result, when sulfatide accumulates in the brain, nerve cells are destroyed, and symptoms such as cognitive impairment, paralysis, and blindness appear, and eventually death. Life expectancy is reportedly five to eight years if MLD symptoms begin soon after birth.

Until now, there was no cure for MLD, but in 2020 the EU approved a gene therapy called ``

Libmeldy (generic name: Atidarsagene autotemcel) ''. In this treatment, stem cells are removed from the patient, then lentiviral vectors are used to replace the defective gene with a normal one, and the patient is reinjected.

Ally Shaw's daughters, 3-year-old Nala and 19-month-old Teddy, who live in the UK, were diagnosed with MLD in April 2022. And Teddy, who decided to implement gene therapy, collected stem cells from bone marrow and blood at the end of June, and transplanted the processed cells in August. Two months later in October, Teddy was safely discharged home.

'Following treatment, Teddy is a happy, healthy infant, showing no signs of his tragic congenital illness,' the NHS said in a statement.

by PA

Libmeldy's drug price is 2.8 million pounds (about 450 million yen), which is the highest amount ever approved in the EU. Initially, the NHS refused to approve Libmeldy because of its price, but the manufacturer, Orchard Therapeutics, offered to offer it at a significant discount. Also, Libmeldy is expected to be effective for life once treated, but since it is still a new technology, concrete results are yet to come.

Unfortunately, my sister Nala was not eligible for treatment as it must be done before her symptoms progress.

“Our world was turned upside down when both of our daughters were diagnosed with MLD in April 2022,” said Shaw, a mother of two. 'To be told that I was going to die and die young was the most heartbreaking and unacceptable thing.'

Teddy (left) and Nala (right)

by PA

Shaw continued: 'But in the midst of the pain there was hope for Teddy. We are very honored that Teddy is the first child in the UK to receive this treatment. I am also grateful for the opportunity to give this child a chance to live a long, hopefully normal life.Without this treatment, we would have lost two of our children. That's right,' he said.