A 19-month-old has become the first child in the UK to receive a life-saving gene therapy treatment for metachromatic leukodystrophy (MLD).
MLD causes severe damage to a child's nervous system and organs and those affected have a life expectancy of between 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 difficulty moving, brain impairment, seizures and eventually death in childhood.
The gene therapy, which is known by its brand name Libmeldy® has a list price of £2.8 million, and when the NHS negotiated a discount last year, it was the most expensive drug in the world.
The treatment is available on the NHS at Royal Manchester Children’s Hospital, in collaboration with Manchester’s Centre for Genomic Medicine at Saint Mary’s Hospital, which are both part of Manchester University NHS Foundation Trust (MFT). It is the only site in the UK providing the treatment and one of five sites in Europe.
The baby girl, Teddi, is the first person in the UK to receive the treatment outside of a trial. The treatment began when she was 12 months old, with the removal of stem cells at the end of June. The stem cells were treated and a transplant took place in August. Teddi was discharged back to her home in October. Teddi is healthy and showing no signs of the disease.
Teddi's sister Nala was also diagnosed with MLD, however she 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.
Teddi and Nala’s mother, Ally Shaw 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 new-born 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.”
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.”
Image by Rainer Maiores from Pixabay
