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Scotland is now the first part of the UK to screen
newborn babies for a rare condition which causes
progressive muscle wastage.
The test for Spinal Muscular Atrophy (SMA), which can
affect movement, breathing and swallowing, began this
week. Previously, people affected will have been tested
once they displayed symptoms.
The Scottish Government and pharmaceutical company
Novartis are funding a two-year evaluation to assess how
well SMA screening can detect the condition
earlier, allowing babies to receive treatment as soon as
possible. On average, three to four babies per year
are born with SMA in Scotland. All parents are now
offered SMA screening for their newborns through the
existing blood spot test, which is taken around day four
after birth.
Health Secretary said:
“Scotland is the first country in the UK to start the
evaluation of SMA screening.
“SMA can have devastating implications for babies and
their families, and this investment demonstrates our
commitment to early detection through our screening
programme.
“I thank SMA UK and local campaigners who have worked so
hard to highlight this issue and Novartis for its
funding. By detecting SMA before symptoms develop,
screening could allow earlier treatment which could be
life-changing and help secure the best possible care and
support for babies and families.”
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.
“These babies will now have the opportunity to grow up
without life-long health care needs and the complexity
and challenges of living with SMA.
“I would like to thank the Scottish Government, the
numerous clinicians and the Scottish Muscle Network as
well as Novartis for their on-going support to drive
change.”
NHS Greater Glasgow and Clyde's Consultant Clinical
Scientist and Director of the screening laboratory
Dr Sarah said:
“We are working closely with the UK National Screening
Committee and other UK laboratories to assess the screen
in a real‑life setting.
“Our staff have worked tirelessly to begin screening as
quickly as possible so we can start to understand the
impact that earlier treatment may have on babies born
with this condition.”
UK and Ireland Chief Medical Officer at Novartis Rob
Hastings said:
“We are delighted that Scotland has become the first
nation in the UK to introduce newborn screening for SMA,
helping ensure families benefit from timely diagnosis.
“This programme marks a significant step forward in early
detection and intervention, giving babies the chance to
receive the care they need as soon as possible.
“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.”
Scottish Director of Screening Dr Tasmin Sommerfield
said:
"I am delighted that Scotland is following the advice of
the UK National Screening Committee and commencing this
in-service evaluation of SMA screening.
“It will allow babies with SMA to receive the best care
and treatment as soon as possible.”
Background
The Scottish Government provided funding of £95,000
towards the SMA screening evaluation, with Novartis
providing £435,400.
The Scottish Newborn Screening Laboratory provides a
national screening service with around 50,000 dried blood
spot samples received from newborn babies each year and
tested for ten conditions such as Cystic Fibrosis,
Congenital Hypothyroidism and Sickle Cell Disorders.
Spinal muscular atrophy
(SMA) - NHS
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