Sydney study makes fatal baby condition treatable

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The NSW state government will permanently fund screening for a rare but devastating genetic disorder with a high infant death rate, after a study conducted in Sydney showed early therapy could turn diagnosis from a “heart-sink” to a treatable condition.

Of the 29 babies with spinal muscular atrophy (SMA) who took part in a global trial of a new gene therapy, including four treated at Sydney Children’s Hospital, all reached 18 months and the majority achieved their developmental milestones, such as sitting independently and walking.

https://www.smh.com.au/national/nsw/life-saving-tests-for-newborns-after-sydney-study-makes-fatal-condition-treatable-20220624-p5awbr.html



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