As part of a two-year evaluation funded by the Scottish government and Novartis, Scotland has started screening newborn babies for spinal muscular atrophy (SMA).
The two-year evaluation will assess how well SMA screening can detect the condition at an early stage, thereby enabling babies to receive treatment as soon as possible.
Affecting on average three to four babies in Scotland each year, SMA is a rare condition that causes progressive muscle wastage and impacts movement, breathing and swallowing.
Scotland is the first part of the UK to offer SMA screening for all newborn babies as part of the routine heel prick test done around four days after birth.
Scottish Health Secretary, Neil Gray, said: “By detecting SMA before symptoms develop, screening could allow earlier treatment that could be life-changing and help secure the best possible care and support for babies and families.”
Previously, diagnosis and testing only began when symptoms appeared, but early pre-symptomatic treatment offers the best chance for affected children to follow typical developmental pathways and achieve key developmental milestones.
SMA UK charity CEO, Giles Lomax, said: “This milestone represents an important step forward for the SMA community.
“With all three treatments now routinely available through NHS Scotland alongside newborn screening, the future for anyone diagnosed with SMA is very different compared to their peers who were diagnosed symptomatically.”
Findings from this evaluation will be used by the UK National Screening Committee to decide on whether SMA screening should be permanently included in the national newborn screening programme.
UK and Ireland Chief Medical Officer at Novartis, Rob Hastings, said: “Early identification of SMA can make a meaningful difference to children and their families, and we are confident Scotland’s participation will provide the evidence needed to make SMA a long-term screening programme.”
Receiving around 50,000 dried blood spot samples from newborn babies each year, the Scottish Newborn Screening Laboratory tests for ten conditions, including cystic fibrosis, congenital hypothyroidism and sickle cell disorders.