A 19-month-year-old girl has become the first child in the UK to receive a life-saving gene therapy for metachromatic leukodystrophy.
The gene therapy, known by its brand name Libmeldy, is the world’s most expensive drug, with a list price of £2.8m. NHS England negotiated a significant discount last year to make the treatment available in the UK.
The gene therapy is available on the NHS as a specialist service and is being delivered at the Royal Manchester Children’s Hospital. This hospital is one of only five in Europe where the treatment is available and the only one in the UK.
What is Metachromatic leukodystrophy?
Metachromatic leukodystrophy, which usually affects infants, causes severe damage to the nervous system and organs. The life expectancy for a child with metachromatic leukodystrophy is between just five and eight years.
The most common form of metachromatic leukodystrophy usually develops in babies under 30 months. The disease can lead to loss of sight, speech, and hearing, difficulty moving, brain impairment, seizures and eventually death. The disorder inhibits the development of a crucial enzyme that facilitates the build-up of fats that, which then destroy the protective layers around the patient’s nerves.
Teddi was diagnosed with metachromatic leukodystrophy in April 2022 before becoming the first person to receive the treatment in the UK. The therapy works by removing the patient’s stem cells and replacing the faulty gene that causes metachromatic leukodystrophy. The treated cells are then re-injected into the patient.
“This is a huge moment of hope for parents and their babies who are born with this devastating inherited disorder, that can now be treated with a single round of revolutionary treatment at a specialist centre on the NHS,” said NHS chief executive Amanda Pritchard.
“Thanks to advancements in gene therapies and the commercial ability of the NHS to strike deals for cutting-edge drugs and then deliver them through our phenomenally skilled specialist staff, children born with this condition now have the opportunity to lead normal, healthy lives,” added Pritchard.
The NHS promises more ground-breaking treatments
According to The NHS Long Term plan, the NHS are committed to providing the latest cutting-edge treatments and therapies. Libmeldy is just one of many innovative treatments the NHS has successfully secured. They say exploiting the commercial capabilities of treatments as Libmeldy will safeguard value for taxpayers.
Previous treatment options for metachromatic leukodystrophy have been limited to managing symptoms and supportive care. It is estimated that around four babies will be born with the condition yearly in England. The treatment will be available to infants with no clinical signs or symptoms, as well as for patients with early symptoms.
“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 – staff, researchers, patients and families,” said Professor Rob Wynn, Consultant Paediatric Haematologist at Royal Manchester Children’s Hospital.
“Through the years, colleagues and I have looked after a range of patients with rare but severe conditions where treatment has been limited. It is wonderful to be involved in this breakthrough moment and deliver a gene therapy which will transform outcomes for patients with metachromatic leukodystrophy,” he concluded.