Thames Valley Pilot Study extends beyond the Thames Valley and finds a new name, due to enthusiasm for newborn screening for SMA in other places
The Thames Valley Pilot Study for newborn screening for SMA has had to be renamed due to its expanding focus across a wider geographical footprint. It is now known as the “SMA Newborn Screening Study”. Following a call for expressions of interest via the National Institute for Health and Care Research (NIHR), a number of new Trusts came forward to join the study. Four Wessex Trusts are now taking part in the pilot on a self-funded basis due to a strong desire to offer newborn screening for SMA to local babies. Leicestershire is also in the process of joining the pilot which will mean it can offer newborn screening for SMA to 25,000 babies a year via its largest hospital, Leicester Royal Infirmary.
Background to the pilot study
In December 2021, Oxford University initiated population-based newborn screening for SMA in the Thames Valley region following approval of a pilot study protocol. The study aims to make it possible to detect SMA within days of birth, before symptoms develop, so that any affected newborn can receive diagnosis and treatment at the earliest possible opportunity, improving their outcomes from treatment.
Four trusts across the Thames Valley Region initially signed up to the study and agreed to offer mothers the opportunity to have their babies screened for SMA at birth via six specific sites:
• Oxford University Hospitals NHS Trust (including both John Radcliffe and Horton Hospitals)
• Royal Berkshire NHS Foundation Trust
• Milton Keynes University Hospital NHS Foundation Trust
• Buckinghamshire Healthcare NHS Trust (including both Stoke Mandeville and Wycombe Hospitals)
The core study is funded by Novartis Gene Therapies, Roche Products Ltd and Oxford Biomedical Research Centre.
The pilot aims to generate evidence that will inform decision-making by the UK National Screening Committee (UK NSC) and hopefully contribute to a positive recommendation for SMA to be added to the UK National Screening Programme.
About the pilot study’s expansion
Following a call for expressions of interest via the National Institute for Health and Care Research (NIHR), a number of new Trusts came forward to join the study, prompted by a powerful video of two siblings, one of whom was treated for SMA after the onset of irreversible symptoms and his sister who was screened and treated pre-symptomatically. Four Wessex hospitals have now joined the pilot:
• Queen Alexandra Hospital (Portsmouth)
• St. Mary’s Maternity Hospital (Poole)
• Princess Anne Hospital, Southampton
• Salisbury District Hospital
These hospitals are self-funding their involvement in the study due to a strong desire to offer newborn screening for SMA to local babies. They have also got off to a fantastic start, securing over 1,000 parental consents for newborn screening for SMA in their first month of operation as part of the study.
Marjorie Illingworth, Consultant Paediatric Neurologist and Paediatric Neuromuscular Service Lead, University of Southampton Paediatrics Department says:
“We have definitive evidence that treating children affected with SMA prior to the onset of symptoms significantly improves prognosis and has the potential to near normalise outcomes, giving children the opportunity to walk, to run, to communicate and have fun.
Here in Wessex we are therefore delighted to have been able to become the second SMA NBS pilot site in the UK and eagerly await the evolution of an established nationwide UK newborn screening programme for SMA.”
Leicester is also planning to join the study and will offer newborn screening for SMA to 25,000 babies a year.
As the study is no longer focused on the Thames Valley, it has had to change its name to the SMA Newborn Screening Study.
What this means
The expansion of the pilot is really good news for families living in the areas covered by the study, as they will now be given the opportunity to have newborn babies screened for SMA. For babies that are confirmed to have SMA, being screened at birth will mean that they receive a timely diagnosis and, in all but the most severe cases, gain access to treatment prior to the onset of irreversible symptoms.
The UK National Screening Committee (UK NSC) is now planning for an in service evaluation for newborn screening for SMA. The results of in-service evaluations are used to support the UK NSC in making recommendations to Ministers for new conditions to be added to the National Newborn Blood Spot Screening Programme. The UK NSC team is liaising closely with the SMA Newborn Screening Study team to understand how the two programmes should interact.
For more information on work underway to plan for the in-service evaluation, read our recent post here.