Spinal Muscular Atrophy (SMA) is the leading genetic cause of infant death in Australia, with the disease occurring in one in every 10,000 births. SMA affects motor nerve cells in the spinal cord, causing progressive muscle weakness through to adulthood.
A Newborn Screening Pilot (NBS) pilot commencing August 2018 and funded for two years by the NSW Government through Luminesce Alliance, has since screened over 100,000 babies and demonstrated that NBS is effective for the early identification and treatment of SMA.
The pilot is a new collaboration between the NSW/ACT NBS and Sydney Children’s Hospitals Network Neurology Department.
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In a groundbreaking Australian initiative, this two-year pilot study introduced screening for Spinal Muscular Atrophy (SMA) and Primary Immunodeficiencies (PID) for babies born in NSW and ACT hospitals.
SMA is a rare genetic condition, affecting 1 in 10,000 births, leading to muscle weakness and infant mortality, making it the primary genetic cause of infant death. PID affects 1 in 40,000 births, weakens the immune system, and elevates infection risk, often leading to fatal outcomes within the first year unless detected early for treatment through stem cell transplants.
Newborn screening is crucial for early detection, diagnosis, and treatment, resulting in significantly improved outcomes and preventing severe complications and fatalities. This pilot study seamlessly integrated SMA and selected PID screening into the existing newborn screening program, which already covers over 25 medical conditions such as cystic fibrosis and congenital adrenal hyperplasia.
Moreover, it enhanced the newborn screening process in NSW/ACT and offered valuable insights for other regions and countries planning to expand their screening procedures to include SMA and PID. The study also gathered comprehensive longitudinal follow-up data, shedding light on the impact of early detection of SMA and PID on both outcomes and the healthcare system.
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Lead Investigators
- Associate Professor Michelle Farrar
Paediatric Neurology, School of Women’s and Children’s Health, UNSW Sydney & Lead, Neuromuscular Diseases Clinical and Research Program Sydney Children’s Hospital Network. - Associate Professor Veronica Wiley
Director/Principal Scientist, NSW Newborn Screening Program, The Sydney Children’s Hospitals Network.
Research Team
- Associate Professor Georgina M Chambers
Director and Scientia Fellow, National Perinatal Epidemiology and Statistics Unit (NPESU), Centre for Big Data Research in Health and School of Women’s and Children’s Health, UNSW Sydney
- Associate Professor Michelle Farrar
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- Department of Neurology, Sydney Children’s Hospitals Network, Australia
- NSW Newborn Screening Program, Sydney Children’s Hospitals Network, Australia
- School of Women’s and Children’s Health, UNSW Sydney, Australia
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