A Sydney baby is the first in the world outside of North America to
receive lifesaving gene- replacement treatment under a NSW Government $2
million newborn screening pilot.
Health Minister Brad Hazzard
said in an Australian first, all babies born
in NSW and the
ACT are now offered screening for the deadly
condition Spinal Muscular Atrophy
(SMA), which is the leading
genetic cause of infant
death in Australia.
“This is a tragic condition – in some cases, babies are
born so weak they only
survive a few weeks. This trial will potentially give those babies a much greater chance at life,” Mr
“Within a month of introducing SMA to the newborn bloodspot screening program, a baby girl
was diagnosed before any symptoms
and she is now getting lifesaving gene- replacement therapy.”
The routine heel prick
screening will also now include Primary Immunodeficencies (PID) – a range
of serious disorders that weaken
the immune system that occur in 1 in 40,000 births
and are usually fatal in a baby’s
first year of life.
The additional screening over two
years is being funded by the NSW
Government through Paediatrio, the NSW paediatric research
collaboration between Sydney Children’s Hospitals Network, Children’s Medical Research Institute and Children’s Cancer Institute.
Sydney Children’s Hospitals Network paediatric neurologist Dr Michelle
Farrar said early screening for SMA and some PID conditions will greatly
“It will help detect these rare and life-threatening conditions in newborns and improve access
to clinical trials and early treatment,” Dr Farrar
“One approach to treatment is gene-replacement therapy, given as
a one-off dose before symptoms arise and could
save a baby’s life.”
The newborn bloodspot program screens for more than 25 medical conditions, including cystic fibrosis, primary congenital hypothyroidism, phenylketonuria and congenital adrenal hyperplasia.
SMA occurs in one in every
10,000 births and affects motor nerve cells in the spinal cord, causing progressive muscle weakness through to adulthood.