First SMA baby identified with our screening solutions in Australia
A newborn baby has been identified as having SMA (spinal muscular atrophy) in Westmead Children’s Hospital in Australia, using a 4-plex SMA, SCID and XLA laboratory developed test, enabled by PerkinElmer’s custom manufacturing services. Newborn screening for SMA has been taking place in Australia since July 2018, and this is the first baby to be identified and diagnosed. The child has undergone gene therapy and now has a chance at a healthy life.
SMA is a neuromuscular disorder characterized by loss of muscular neurons and progressive muscle wasting, often resulting in early death. It is the leading genetic cause of infant death. However, early detection and breakthrough treatments can now slow the progression of the illness.
In a two-year pilot program, newborn babies in the state of New South Wales and the Capital Territory of Australia will be screened for SMA. The impact on families is expected to be profound, and the New South Wales Health minister is urging other Australian states and territories to start their own screening programs.
New gene therapy treatments are being trialed for SMA, with 45 patients across the world being recruited for an international study. A previous small trial of gene therapy found it helped all 14 SMA children who were treated.
PerkinElmer does not endorse or make recommendations with respect to research, medication, or treatments. All information presented is for informational purposes only and is not intended as medical advice. For country specific recommendations please consult your local health care professionals.
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