A 19-month-old baby has become the first person in the UK to benefit from a life-saving treatment for the fatal genetic disease, metachromatic leukodystrophy (MLD).
MLD is a disorder that causes serious damage to a child’s nervous system and organs, leading to those affected only having a life expectancy of just five to eight years.
The treatment for this awful disease is a revolutionary gene therapy which costs around £2.8m and was the most expensive drug in the world when NHS England negotiated a significant discount for the product last year – the medicine is still the most expensive licensed drug in all of Europe.
Thanks to the NHS’s confidential deal, the treatment is now available through Royal Manchester Children’s Hospital, which works in conjunction with Manchester’s Centre for Genomic Medicine – both of which are a part of Manchester University NHS Foundation Trust. This is the only place in the UK that offers the ground-breaking treatment and just one of five on the entire continent.
The child who received the treatment, Teddi, was the first person in the UK to do so outside of a clinical trial when she was just 12 months old. Following the treatment, the NHS say Teddi is now a “happy and healthy” toddler with no signs of the disease she was born with.
NHS chief executive Amanda Pritchard said: “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.
“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.
“It means that children like Teddi can do the things that all children should be able to, like going to school and playing with friends.
“I am delighted that we have given this miracle treatment to the Shaw family at what must have been a horrendous time for them and I would like to thank the staff at Royal Manchester Children’s Hospital for turning research into reality for Teddi and others who will benefit.”
MLD’s most common form normally develops in babies younger than 30-months-old and causes sight, speech and hearing loss, as well as immobility, brain impairment, seizures, before eventually becoming fatal.
The disorder prevents the development of an important enzyme that leads to fat building up and subsequently destroying the protective layers around a child’s nerves. The therapy curbs this by supplanting the child’s stem cells and faulty gene with new treated cells that acts as a one-time treatment that ultimately fixes the underlying cause of the disease.
The treatment is available to those who show no clinical symptoms of the diseases, or those with just early signs as long they can still walk independently with no signs of brain impairment.
Professor Rob Wynn, Consultant Paediatric Haematologist at Royal Manchester Children’s Hospital, added: “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.
“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 MLD.
“It has been wonderful to care for Teddi and the Shaw family and our entire team wishes them well as she continues her recovery at home.”
