The state government will fund permanent screening for a rare but devastating genetic condition with a high infant mortality rate after a study in Sydney showed early therapy could turn a diagnosis from a “heartbreaking” into a treatable condition.
Of the 29 infants with spinal muscular atrophy (SMA) who participated 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 developmental milestones, such as sitting and walking independently. .
SMA is the leading genetic cause of infant mortality. The condition, which affects one in 10,000 births, causes progressive muscle breakdown. Without treatment, babies have a life expectancy of about nine months.
“Five years ago there was no therapy and for the most common and severe form of SMA, the day you diagnosed them was the best they would ever be,” Associate Professor Michelle Farrar, who led the Sydney portion of the study, said. “It was real hell diagnosing those kids.”
Since 2018, a repeat lumbar puncture therapy is available, which also shows good results. But Farrar said the shift from SMA as a condition that sparked discussions about palliative care options to treatment with a single infusion therapy was “dramatic.”
“It’s a big breakthrough to turn a deadly condition into something that we screen and treat for free,” she said, noting that different treatment options would be appropriate for different babies.
The final results of the gene therapy trial, marketed as Zolgensma and now included in the Pharmaceutical Benefits Scheme, were published in Nature this month.
To facilitate the trial, the NSW government has funded newborn screening to recruit children with the condition early enough to participate.
Adriana and Adam Sharpe’s daughter, Alessia, was the first baby to be diagnosed with SMA as part of the newborn screening program, 17 days after it began in August 2018.