A 19-month-old girl has been successfully treated with the world’s most expensive drug for a deadly genetic disease.
Teddi Shaw was the first person in the UK to be treated with Libmeldy, a treatment that corrects the underlying genetic defect that causes metachromatic leukodystrophy (MLD).
The gene therapy, which replaces defective genes in human cells, has a price tag of £2.8m.
Even with a “significant confidential discount” from British biotech Orchard Therapeutics, National Health Insurance System Britain said it remained the most expensive drug licensed in Europe.
But Teddy now shows no signs of MLD, a previously incurable disease that causes severe damage to the nervous system and organs.
Newly diagnosed patients have a life expectancy of only five to eight years.
Teddi’s mum, Ally, said: “Teddi is doing fantastic. She walks, runs, talks and has no signs of MLD at all so far.
“She was an absolute character and everyone around her was laughing the entire time.”
Teddy and her three-year-old sister Nora were both diagnosed with MLD last April.
Nora was unable to receive treatment because clinical guidance should start treatment before the disease progresses to irreversible damage.
Ellie said: “Being told our oldest daughter, Nora, is ineligible for any treatment, will continue to lose all function, and is very young is the most heartbreaking and unacceptable thing.
“However, amidst the pain, our youngest daughter Teddy saw hope.
“We are very honored that Teddi is the first child to receive this treatment on the NHS and we are grateful she has the opportunity to live a long and hopefully normal life.
“Without this treatment, we would have had both children taken away.”
Teddi was treated at the Royal Manchester Children’s Hospital – in collaboration with the Manchester Center for Genomic Medicine at St Mary’s Hospital.
It is the only hospital in the UK that provides treatment and one of only five in Europe.
During treatment, stem cells are removed from the bone marrow or blood circulation. The faulty gene is then corrected with a healthy copy, and the cells are reinfused.
NHS England chief executive Amanda Pritchard called it a “miracle cure”.
She said: “Thanks to advances in gene therapy, and the commercial ability of the NHS to strike cutting-edge drug deals and then deliver them through our highly skilled professionals, children born with this disease now have the opportunity to live normal, healthy lives .
“It means kids like Teddy can do the things all kids are supposed to do, like go to school and play with their friends.”
Around four babies in the UK are born with MLD each year. Previously, treatment was limited to controlling symptoms and supportive care.
In the future, Libmeldy will be available for children who are not yet symptomatic or who are in the early stages of the disease.
Ally urged the NHS to start genetic testing of babies so children like Nala could be diagnosed in time.
“We can only hope that one day there will be a treatment for all stages of MLD, and we feel strongly that it should be added to newborn screening tests to save more families from going through this heartache,” she said.