First Baby Receives Life-Saving Gene Therapy on NHS at Royal Manchester Children’s Hospital
A 19-month-old baby girl called Teddi has become the first child in the UK to receive a life-saving gene therapy treatment for the fatal disorder, metachromatic leukodystrophy (MLD).
The revolutionary gene therapy, known by its brand name Libmeldy®, has a list price of £2.8 million and was the most expensive drug in the world when NHS England negotiated a significant confidential discount last year to make the treatment available to NHS patients – it remains the most expensive drug licensed in Europe.
The genetic disease causes severe damage to the affected child’s nervous system and organs, resulting in a life expectancy of between just five and eight years.
The treatment is available on the NHS as a specialist service. It is being delivered within Royal Manchester Children’s Hospital (RMCH) – in collaboration with Manchester’s Centre for Genomic Medicine at Saint Mary’s Hospital – both part of Manchester University NHS Foundation Trust (MFT).
Manchester is one of just five European sites administering the treatment, and the only site in the UK. RMCH is one of the biggest and busiest children’s hospitals in the UK.
Teddi and her sister Nala, 3, were both diagnosed with MLD in April last year but unfortunately, Nala was not eligible for the treatment as the clinical guidance requires the gene treatment to be administered before the irreversible damage caused by the disease progresses too far.
The life-saving gene therapy works by removing the child’s stem cells and replacing the faulty gene that causes MLD before re-injecting the treated cells into the patient.
Teddi was the first person in the UK to receive the treatment outside of a clinical trial, which began when she was 12 months old with the removal of stem cells at the end of June, which were then treated before the transplant took place in August. Teddi was discharged back to her home in Northumberland in October.
Now, several months on from the procedure, Teddi has fully recovered from the transplant and is showing no signs of the devastating disease she was born with.
Teddi and Nala’s mother, Ally Shaw, 32, said: “In April last year, our world was turned upside down when not one, but both of our daughters were diagnosed with MLD. Being told our first daughter, Nala, wasn’t eligible for any treatment, would continue to lose all functions, and die extremely young was the most heart-breaking and hardest thing to come to terms with.
“However, amongst the pain, was hope for our younger daughter, Teddi. We were told that a new gene therapy treatment had, luckily, recently been made available on the NHS.
“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. Without this treatment, we would be facing both our children being taken away.
“We can only hope that one day, a treatment becomes available for all stages of MLD, and we feel strongly that it should be added to the newborn screening test to save more families from having to go through this heartache.
“We would like to say a huge thank you to our specialists, doctors and nurses and all the staff at Royal Manchester Children’s Hospital who have been fantastic in caring not just for Teddi, but us as a family.
“Teddi is doing absolutely brilliant! She is walking, running, a chatterbox, absolutely no signs so far of MLD. She is an absolute character and has everyone around her laughing all the time.”
The most common form of MLD usually develops in babies younger than 30 months and can lead to loss of sight, speech and hearing, as well as difficulty moving, brain impairment, seizures and eventually death in childhood.
The genetic disorder prevents the development of a crucial enzyme that leads to a build-up of fats that then destroy the protective layers around the child’s nerves.
Libmeldy, manufactured by UK-based pharmaceutical firm Orchard Therapeutics, is a one-time treatment that corrects the underlying cause of MLD.
Previous treatment options for MLD were limited to managing symptoms and supportive care. It is estimated that around four babies born every year in England will have the condition.
The treatment will be available to babies and young children with no clinical signs or symptoms, as well as those with early symptoms of the condition, so long as they can still walk independently and with no evidence of cognitive decline.
Professor Rob Wynn, Consultant Paediatric Haematologist at RMCH and Director of the Hospital’s Paediatric Bone Marrow Transplant Programme, 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 – 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.”
Professor Simon Jones, Consultant in Paediatric Inherited Metabolic Disease at the Manchester Centre for Genomic Medicine at Saint Mary’s Hospital and Clinical Director of NIHR Manchester Clinical Research Facility at RMCH, said:
“MLD is a progressive, life-limiting condition and, prior to this metabolic disorder service being made available via the NHS, there were no approved treatment options available.
“While there are various sub-types of the condition, in its later stages, all forms largely result in children losing their ability to move and speak. I care for many patients with later stage MLD and can testify to the devastating impact it can have.
“It is therefore enormously welcome that we are now able to offer Libmeldy treatment via the NHS, which is testament to the rigorous clinical trials that have paved the way for this decision, and the world-leading research and innovation capability within the UK healthcare system.
“As a Trust, we are delighted to be selected as one of five European centres to deliver this new service as part of NHS standard of care, furthering our work as a European centre of excellence for metabolic conditions.”
Where there is no family history of the condition, MLD is usually diagnosed through a combination of brain MRI, and blood and urine tests, before genetic testing is used to identify the specific mutation.
The diagnosis for Teddi was supported by the NHS Genomic Medicine Service’s service in the South West that focuses on helping children get a diagnosis where none can be found.
Decisions around the tests offered to newborn children is determined by The UK National Screening Committee which they regularly review.
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 Hospital for turning research into reality for Teddi and others who will benefit.”
The NHS Long Term Plan committed to providing the latest cutting-edge treatments and therapies for patients and Libmeldy is just one in a long line of innovative treatments that the has NHS successfully secured for patients, while using its commercial capabilities to safeguard value for taxpayers in the price it pays for new medicines.