An infant is showing signs of being cured from a fatal genetic disease after treatment with the most expensive drug in Europe, it was announced last week.
The baby Teddi, now aged 19 months, received gene therapy for metachromatic leukodystrophy (MLD) seven months ago.
The treatment involved the removal of Teddi’s haematopoietic stem cells, into which a working copy of the ARSA gene was inserted. The gene-corrected HSCs were then returned to Teddi as an autologous transplant, which took place last August.
She is the first patient to be treated with the drug outside of a clinical trial after the NHS obtained a substantial confidential discount from the developers of the therapy, Libmeldy, which has a list price of £2.8 million.
Teddi now shows no signs of the disease, it was announced. Her and her sister Nala, aged three, were both diagnosed in April last year. Nala is not eligible for treatment because her disease is too advanced.
The girls’ mother Ally, aged 32, said: “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.”
NHS England chief executive Amanda Pritchard said: “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.
“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.”
Paediatric haematologist Professor Rob Wynn, one of the team caring for the children, said: “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.”
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 no 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.”
Source: NHS England
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