Devastating condition added to Newborn Screening after life-saving trial

James* is an incredibly active three-year-old. When he’s not running, he’s climbing or jumping around, and he has no trouble keeping up with his sister or his cousins.

James was born in a NSW hospital and his newborn heel prick test was performed by a midwife during a home visit. His mother Alice* thought nothing of it.

At about two-weeks-old, Alice received a call about James’s results, which had revealed a discrepancy. After a second blood test and an anxious few days wait, she received another call.

“The paediatrician was very gentle when delivering the news. But it was obviously a horrific phone call,” Alice said.

That’s when she found out her newborn baby had returned a positive Newborn Screening test and was at risk of developing Spinal Muscular Atrophy (SMA).

“My heart sank, and I just said, ‘Oh, God, what is that?’ Because I had been googling all of the things that Newborn Screening tests for, obviously not knowing SMA was even a possibility,” she said

SMA is a rare genetic disorder that causes progressive muscle weakness. Babies with SMA struggle to meet developmental milestones, including holding their head up, sitting up by themselves, standing and walking, and in the most severe cases these infants won’t live to see their first birthday.

In what she describes as the worst hours of her life, Alice was referred and spoke to Associate Professor Michelle Farrar, Paediatric Neurologist at Sydney Children’s Hospitals Network (SCHN).

“She was incredible. She told me there were things that could be done to help our newborn and without even saying the words gene therapy, she gave me hope,” Alice said. “Her words enabled me to keep going, rather than just falling in a heap.”

The family boarded a flight to Sydney first thing the next day, where they met Paediatric Neurologist Dr Hugo Sampaio at SCHN to discuss treatment options, including a new clinical trial (SPR1NT) for a gene therapy treatment.

The development of gene replacement drug Zolgensma® has changed the outlook for babies with SMA, as it treats the condition at its root cause.

The treatment involves a one-time infusion that inserts the missing gene that causes SMA, into the patient’s cells. Originally at a cost of almost $3 million, Zolgensma® has since been listed on the Pharmaceutical Benefits Scheme (PBS). This means it is now free of charge for babies with symptoms before nine months old or who are at risk of developing severe SMA in infancy.

At just 32 days old, James had the infusion.

“I didn't really know what to hope for, and the only way to know if it had worked would be through James reaching normal milestones,” Alice said.

Diagnosis and treatment of SMA is critical within the first few weeks of a baby’s life, as symptoms of this devastating condition are irreversible.

The heel prick test, part of the Newborn Screening (NBS) program, has included a test for SMA in NSW and the ACT since August 2018. The NSW government has now permanently added it to the program, following a successful four-year trial.

This coincided with a world-first clinical trial of Zolgensma® at SCHN, the only Australian site for the trial, which began in April 2018 and ended in December last year.

For the timeline of James’s diagnosis and treatment, Alice says it’s hard to comprehend how lucky they have been.

“We have lived in different cities around Australia and the world, and if he had been born in any of those cities, his SMA would not have been picked up until symptoms appeared and the damage was done,” she said.

A/Prof Farrar led the Australian trial and says early identification is absolutely essential.

“It highlights the pivotal role of Newborn Bloodspot Screening to identify babies at risk of this life-threatening condition and gives them the opportunity for treatment so they can have the best outcomes,” she said. “It allows us to go from patients who survive to children who thrive”.

As for James, he’s been hitting all of his developmental milestones.

“From him first sitting up, crawling or walking, to James now as a robust three-year-old,” Alice said. “Without that intervention, our lives would be so different. He's now getting to live the life of a normal kid, which given his diagnosis is amazing.”

*Names have been changed for privacy reasons

The SPR1NT trial was delivered by the Clinical Research Centre at SCH and was also supported by Luminesce Alliance and partners including UNSW Sydney.