Professor Laurent Servais has set up a state-of-the-art newborn screening programme for spinal muscular atrophy (SMA), with a pilot ongoing in Thames Valley. The newborn screening programme aims to screen a minimum of 10,000 newborn babies for SMA each year over three years. This work also extends well beyond Oxford, with several regions involved in the pilot study. This will provide evidence in support of a UK national screening programme for treatable muscle wasting conditions.
Every baby in the UK is offered screening tests for various conditions in their first week. Currently, SMA is not one of the conditions screened for, despite being included in many other countries’ newborn health checks. While most babies are healthy, for babies who do have a health problem, the benefits of screening can be life-saving. This is the case with SMA – a condition that a baby is born with every five days in the UK.
There are treatments for SMA currently available. It is vital to start treatment as soon as possible upon diagnosis, before symptoms first appear. Once a child starts to show symptoms of SMA, there is already irreversible damage to the nervous system, which affects muscles and movement. However, if treated on time, babies have a great chance of growing up and living long and healthy lives.
“This study represents a unique platform in the UK that we hope will change clinical care for children with SMA now that there are three possible treatments for the condition either recommended by NICE for use by the NHS or in the process of being appraised. Setting the standard of early detection and management of SMA will be a good example for other conditions, such as Duchenne muscular dystrophy’’ Professor Laurent Servais