A baby has become the first NHS patient to receive gene therapy for spinal muscular atrophy (SMA).
Five-month-old Arthur was diagnosed with SMA about four weeks ago and received the gene therapy treatment – Zolgensma – last week. Babies with type 1 SMA, the most severe form, experience progressive muscular weakness, paralysis, and difficulty breathing, and have a life expectancy of around two years without treatment.
'We are very excited to be able to provide this life-changing treatment to infants with the severe form of spinal muscular atrophy' said Dr Elizabeth Wraige, consultant paediatric neurologist at the Evelina London Children's hospital where Arthur was treated. 'Babies like Arthur, who is first to receive this treatment in England, may now be able to have a one-off gene therapy to treat the root cause of SMA with the aim of preventing the further progression or even onset of this debilitating condition. This treatment will bring hope to families affected by SMA who have fought so courageously against it.'
SMA is a genetic condition affecting around one in 6000 babies and occurs due to faulty SMN1 genes. The treatment works by providing a functioning copy of SMN1, delivered into the patients' cells using a harmless virus vector. It is expected that around 80 babies per year will receive the treatment in the UK.
Zolgensma was approved for use on the NHS in March after a special deal was negotiated (see BioNews 1087). Treatment is a one-off infusion, and with a list price of £1.79 million, it is the most expensive drug ever approved by the National Institute for Health and Care Excellence (NICE). The cost was considered justifiable because it has the potential to dramatically extend length and imrpove quality of life. Some children treated with Zolgensma have gained the ability to sit up, crawl and walk. Several of the participants in the original clinical trial are now more than five years old.
Arthur will be closely monitored, and it will be several months before doctors will be able to tell if the gene therapy has been effective.
His father said: 'We still don't know what the future will hold, but this gives Arthur the best possible chance to give him the best possible future.'