A three-month-old baby has become one of the first patients in England treated with a potentially life-saving drug on the NHS that can prolong the lives of children with spinal muscular atrophy.
Riley Cadle-Birch, who was diagnosed with SMA Type 1 when he was four weeks old, underwent the one-off gene therapy at Bristol Royal Hospital for Children on June 30.
Until two years ago, there were no treatment options for children with the condition, which is the leading genetic cause of death for youngsters.
But babies could potentially sit, crawl and walk after being treated with US gene therapy Zolgensma, which has been called the most expensive drug in the world.
It has a list price of £1.79 million 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 functional copy of the gene known as SMN1, which the body needs to make a protein that is essential for the normal functioning of nerves which control muscle movements.
Patients with SMA have a defective copy of this gene, so when Zolgensma is delivered through an intravenous infusion, it passes into the nerve cells and provides instructions to the body to produce the protein and thereby restore nerve function.
Babies born with Type 1 SMA, which is the most common form, experience progressive muscle weakness, loss of movement, difficulty breathing, and have a life expectancy of two years.
Studies found that a single treatment with Zolgensma has helped babies with SMA to sit, crawl and walk, and also prevented them from having to be put on a ventilator.
University Hospitals Bristol and Weston NHS Foundation Trust (UHBW), which includes Bristol Royal Hospital for Children, is one of only four centres across the country administering the 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 the gene therapy infusion last week after responding well to another form of treatment for SMA called Spinraza.
His mother, Jade Cadle-Billingham, first noticed something was wrong with Riley’s hand and a midwife also spotted some issues with his breathing.
He was taken to hospital for a series of tests to check his reflexes and was later diagnosed with SMA Type 1.
After a difficult start, including being on life support, Riley begun receiving Spinraza.
Ms Cadle-Billingham said: “We’ve been on a really rocky road with Riley, with him being so ill at times we weren’t sure if he would make it.
“When we started to suspect he may have SMA, I began researching the condition and came across Zolgensma, which at the time had only been announced as approved by the NHS, but we didn’t yet know where it would be available or if Riley would be able to have it.
“We want to do anything we can to raise awareness of this life-changing treatment, and to give hope to other SMA families going through the same thing.
“Having this treatment is like giving him his future.”
Dr Kayal Vijayakumar, consultant paediatric neurologist at Bristol Royal Hospital for Children, said: “I feel very privileged as part of this team to be in a position where we can now offer families this ground-breaking treatment.
“The data from scientific studies illustrates that this treatment can significantly change the lives of those children affected by spinal muscular atrophy.
“We’re incredibly excited to have been chosen as one of the four national centres in England and look forward to working closely with the other centres to ensure eligible patients are able to receive treatment regardless of where they live.
“I hope the success of this treatment will act as a springboard for more gene therapies to become available in the future.”
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