NSW Health tests newborns after treatment for SMA, SCID confirmed in Sydney trial


The state government will permanently fund testing for a rare but devastating genetic disease with a high infant mortality rate, after a study in Sydney showed early therapy could transform the diagnosis of a “heart sink” into a treatable disease.

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 reached their milestones development, such as independent sitting and walking.

Adam and Adriana Sharpe with their daughter Alessia, 3, who was the first baby to be diagnosed with SMA through the newborn screening program.Credit:Bianca De Marchi

SMA is the main genetic cause of infant mortality. The condition, which occurs in one in 10,000 births, causes progressive muscle wasting. Without treatment, babies have a life expectancy of about nine months.

“Five years ago there was no cure, and for the most common and severe form of SMA, the day you diagnose them was the best they’ve ever been,” said the Associate Professor Michelle Farrar, who led the Sydney part of the study. , said. “It was heartbreaking to diagnose these children.”

Since 2018, repeat lumbar puncture therapy has been available, also showing good results. But Farrar said the shift from SMA being a condition that led to discussions of palliative care options to one treated with single infusion therapy was “dramatic”.

“It’s a major breakthrough to be able to turn a life-threatening condition into something that we screen for free and treat,” she said, noting that different treatment options would be appropriate for different babies.

The final results of the gene therapy trial, sold as Zolgensma and now enrolled in the Pharmaceutical Benefits Scheme, have been published in Nature this month.

To facilitate the trial, the New South Wales government funded newborn screening to recruit children with the disease early enough to participate.

Adriana and Adam Sharpe’s daughter, Alessia, was the first baby to be diagnosed with SMA under the newborn screening program, 17 days after it launched in August 2018.


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