Mar 16, 2022

The screening will detect muscle-wasting spinal muscular atrophy By Sally Murrer Wednesday, 16th March 2022, 11:39 am Pregnant local women are being urged to take part in UK’s first newborn baby screening trial to detect spinal muscular atrophy (SMA). Every five days a baby in the UK is born with the condition. Treatments are available now and, if delivered at birth, they provide these babies with the best chance of living long and healthy lives. Newborn screen is essential to prevent diagnosis delays accelerate treatment access, says the MDUK Oxford Neuromuscular Centre, which is running the study. The babies will be screened for a rare muscle-wasting condition They want to recruit as many mothers as possible who are receiving maternity care from Milton Keynes University Hospital, Oxford University Hospitals NHS Trust, Royal Berkshire NHS Foundation Trust or Buckinghamshire Healthcare NHS Trust The pilot study, designed by Professor Laurent Servais and his team, is a first for the UK, although SMA screening is carried out before or after birth in most of the United States and other countries including Germany, Poland, Belgium and Australia. Because SMA screening is not yet routinely available to newborns here, by the time an infant starts showing symptoms and receives a diagnosis, most have already lost a significant proportion of their nerve function, say experts. Newborn screening is therefore an essential way to prevent diagnosis delays and accelerate access to treatments. The pilot study aims to detect SMA within days of birth, before symptoms develop, so that any affected newborn baby can receive diagnosis and treatment at the earliest possible opportunity. Oxford Neuromuscular Centre hopes it will pave the way for a national newborn screening programme in the UK. Screening will be undertaken through the routine UK newborn blood spot screening pathway using spare capacity from a dried blood spot sample, known as a Guthrie card. A major objective in the design of the study has been to ensure that it will not interfere with the standard screening procedure that all newborn babies already go through in any way. Professor Servais said: “Screening for SMA at birth will significantly increase a newborn’s chance of survival and development. Today, in the UK, we are not screening our children for SMA even though we know how it works and we know how to use it. This must change and we are proud to be driving this change.” The study will contribute to the body of evidence that is being assembled by the Newborn Screening for SMA Alliance for presentation to the UK National Screening Committee in its review and consideration of whether SMA should be introduced into the routine UK neonatal testing. MDUK is working alongside SMA UK as joint secretariat of the alliance. Robert Burley, Director of Care, Communications and Support at Muscular Dystrophy UK, said: “There is already a strong case for the introduction of newborn screening for SMA, with the earliest possible access to treatments for those able to benefit from them is a key factor in maximising their benefit. "That’s why we’re proud to be working alongside SMA UK and a wide range of other partners to seek the introduction of such a screening programme. It’s fantastic that we have the opportunity to strengthen the evidence base further through this study at the MDUK Oxford Neuromuscular Centre ” Pregnant women who are interested in taking part in the study should speak with their obstetrics team for more information.