First NHS recipient of gene therapy Libmeldy cured of neurodegenerative disease

A toddler with a rare neurodegenerative disease is the first in the UK to be cured using gene therapy.

Teddi Shaw, at 19-months old, is the first patient in the UK to be cured of metachromatic leukodystrophy (MLD), a rare and fatal genetic disorder. Teddi was diagnosed with MLD in April last year, and started treatment with a gene therapy known as Libmeldy.

Professor Rob Wynn, consultant paediatric haematologist at Royal Manchester Children's Hospital, where Teddi was treated, said, 'Being able to offer this first licenced treatment as part of NHS standard of care and, crucially, transform Teddi's life, has been an exciting experience for all of us involved here in Manchester… It is wonderful to be involved in this breakthrough moment and deliver a gene therapy which will transform outcomes for patients with MLD.'

The NHS approved Libmeldy last February for some patients with MLD (see BioNews 1132), and is the world's most expensive drug, with a list price of £2.8 million, although the NHS secured a 'significant, confidential discount'.

MLD is a rare genetic disorder, where DNA mutations reduce the nerve cells' ability to transmit signals from the brain. This damage to the nervous system leads to loss of speech, blindness, loss of motor function and eventually death. Four to five children are diagnosed every year in the UK, with a typical life expectancy of five to eight years. Libdelmy has been approved for patients with late infantile onset and juvenile onset, whose symptoms caused by the disease have not progressed too far.

Teddi's sister, Nala, age three, was also diagnosed with MLD in April last year but Nala was not eligible for the treatment as the disease had already caused irreversible damage.

The children's mother said: 'Being told our first daughter Nala wasn't eligible for any treatment… was the most heartbreaking and hardest thing to come to terms with. However, among the pain, was hope for our younger daughter, Teddi. We are extremely privileged that Teddi is the first child to receive this on the NHS and grateful that she has the opportunity to lead a long and hopefully normal life.'

Libmeldy is a personalised gene therapy that works by taking stem cells from the patient's own bone marrow or blood, inserting functional copies of the faulty gene into the patient's own stem cells, and then injecting the healthy stem cells back into the patient.

MLD is a candidate disease for inclusion in the newborn screening panel, which is regularly reviewed by UK National Screening. Vivienne Clark, chair of the MLD Support Association UK advocates its inclusion: 'As gene therapy is a growing area of medicine, with many rare inherited diseases possibly benefiting, MLD Support Association UK will campaign for a broader Newborn Screening programme.'