A little girl has been become the first patient in the UK to get life-saving gene therapy treatment for a fatal disorder on the NHS - in Manchester. In children, genetic disease metachromatic leukodystrophy - MLD for short - causes severe damage to the nervous system and organs, resulting in a life expectancy of between just five and eight years.
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 movement difficulty, brain impairment and seizures, said the NHS. The genetic disorder prevents the development of a crucial enzyme that leads to a build-up of fats that destroy protective layers around a child's nerves.
Teddi Shaw, now aged 19 months, and her older sister Nala, three, were both diagnosed with MLD in April last year. Nala, said the NHS, is tragically not eligible for the treatment as clinical guidance requires the gene treatment to be administered before the irreversible damage caused by the disease progresses too far.
She's said to be too far advanced to benefit, although those whose MLD starts between 30 months and six years of age have a life expectancy of 10 to 20 years more.
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But NHS bosses have revealed today Teddi was the first person in the UK to receive the treatment outside of a clinical trial and is now a happy and healthy toddler, showing no signs of the devastating disease she was born with.
The gene therapy - known by its brand name Libmeldy- works by removing a child's stem cells and replacing the faulty gene that causes MLD before re-injecting the treated cells into the patient.
Teddi's treatment began when she was 12 months old with the removal of stem cells at the end of last June, which were then treated before the transplant took place in August. She was discharged back home last October.
The treatment is available on the NHS as a specialist service and is being delivered within Royal Manchester Children's Hospital - in collaboration with Manchester's Centre for Genomic Medicine at Saint Mary's Hospital - both part of Manchester University NHS Foundation Trust (MFT). The centre in Manchester is one of just five European sites administering the treatment, and the only site in the UK, said the NHS.
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.
Teddi and Nala's mother, Ally Shaw, 32, from Northumberland, said MLD should be added to the new-born screening test to 'save more families from having to go through this heartache'.
She 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. 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."
Libmeldy, manufactured by UK-based biotech company Orchard Therapeutics, is a one-time treatment that corrects the underlying cause of MLD.
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 said it estimates around four babies born every year in England will have the condition. Previous treatment options, however, were limited to managing symptoms and supportive care.
Professor Rob Wynn, Consultant Paediatric Haematologist at Royal Manchester Children's Hospital 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 Royal Manchester Children’s Hospital, 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.!
Vivienne Clark, Chair of MLD Support Association UK, said: "A trial is now being carried out in Milan for late-juvenile MLD, but as yet there has been mention of treatment for adult-onset MLD - which has an onset of between age 18 and into the early 60s. As gene therapy is a growing area of medicine, with many rare inherited diseases possibly benefitting, MLD Support Association UK will campaign for a broader new born screening programme."
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