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A three-month-old baby has become one of the first patients in England to be treated with a potentially life-saving NHS drug that can prolong the lives of children with spinal muscular atrophy.
iley Cadle-Birch, who was diagnosed with type 1 SMA at four weeks old, underwent unique gene therapy at Bristol Royal Hospital for Children on June 30.
Until two years ago, there were no treatment options for children with the disease, which is the leading genetic cause of death in young people.
But babies could potentially sit, crawl and walk after being treated with American Zolgensma gene therapy, which has been called the world’s most expensive drug.
Jade Cadle-Billingham first noticed something was wrong with her son Riley when he was three weeks old (University Hospitals Bristol and Weston NHS Foundation Trust / PA)
It has a list price of £ 1.79million per dose and was made available on the NHS after the health service struck a deal with manufacturers Novartis Gene Therapies in March.
The one-hour intravenous infusion works by providing a working copy of the gene known as SMN1, which the body needs to make a protein essential for the normal functioning of the nerves that control muscle movement.
Patients with SMA have a defective copy of this gene. So, when Zolgensma is given by intravenous infusion, it passes into nerve cells and provides instructions to the body to produce the protein and thus restore nerve function.
Babies born with type 1 AMS, which is the most common form, suffer from progressive muscle weakness, loss of movement, difficulty breathing, and have a life expectancy of two years.
Studies have shown that just one treatment with Zolgensma helped babies with ADS sit, crawl and walk, and also prevented them from having to be put on a ventilator.
Riley Cadle-Birch with her father Ryan before undergoing treatment at Bristol Royal Hospital for Children (University Hospitals Bristol and Weston NHS Foundation Trust / PA)
Bristol University Hospitals and Weston NHS Foundation Trust (UHBW), which includes the Bristol Royal Hospital for Children, are one of only four centers across the country to administer gene therapy.
The others are Manchester University NHS Foundation Trust, Sheffield Children’s NHS Foundation Trust and Evelina London Children’s Hospital.
Riley, from Gloucester, underwent a gene therapy infusion last week after responding well to another form of treatment for ADS called Spinraza.
Her mother, Jade Cadle-Billingham, first noticed that something was wrong with Riley’s hand and a midwife also noticed issues with her breathing.
He was rushed to hospital for a series of tests to check his reflexes and was later diagnosed with type 1 SMA.
After a difficult start, especially on life support, Riley began to receive Spinraza.
Riley Cadle-Birch received gene therapy in June after being diagnosed a few weeks after birth (University Hospitals Bristol and Weston NHS Foundation Trust / PA)
Ms Cadle-Billingham said: ‘We’ve been on a very bumpy road with Riley, he was so sick at times that we didn’t know if he would make it.
“When we started to suspect he might have SMA, I started looking for the disease and came across Zolgensma, who at the time had only been announced as approved by the NHS, but we didn’t know not yet where it would be available or if Riley would be able to have it.
“We want to do everything we can to raise awareness about this life changing treatment and give hope to other SMA families who are going through the same thing.
“Having this treatment is like giving her her future.”
Dr Kayal Vijayakumar, consultant pediatric neurologist at Bristol Royal Hospital for Children, said: “I feel very privileged within this team to be in a position where we can now offer families this revolutionary treatment.
“Evidence from scientific studies shows that this treatment can dramatically change the lives of children with spinal muscular atrophy.
“We are incredibly delighted to have been chosen as one of four national centers in England and look forward to working closely with the other centers to ensure that eligible patients can receive treatment regardless of where they live.
“I hope that the success of this treatment will serve as a springboard for more gene therapies to become available in the future. “
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