The world's most expensive drug now free of charge
At four months of age Sophia is reaching all her developmental milestones. She demonstrates good head control while sitting supported and can even roll from her tummy to her back.
Her parents Kaitlin and Max have not witnessed any decline in Sophia’s physical development and for this they are extremely grateful to the Paediatric Neurology team at Sydney Children’s Hospital, Randwick (SCH).
Sophia was diagnosed with Spinal Muscular Atrophy (SMA) as a newborn. Just days after leaving hospital in Canberra, her parents received an urgent call from the paediatrician about Sophia’s test results.
“I knew the only test Sophia had in hospital was the heel prick test. So I knew it must have been a serious medical condition that had been picked up,” Sophia’s mother Kaitlin said.
Sophia had screened positive for SMA. This was devastating news to her parents, as they were unaware they were even carriers.
SMA is a rare genetic disorder characterised by a loss of motor neurons in the spinal cord 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. In the most severe cases it can lead to paralysis and death.
The loss of motor neurons caused by SMA is irreversible, which makes diagnosis and treatment critical and needed within the first few weeks of life in severe SMA.
The heel prick test that detected Sophia’s condition is part of the Newborn Screening (NBS) program which has included a test for SMA since 2018. To date, about 350,000 babies across NSW and ACT have been tested for the condition.
Following the news, the Canberra-based family rushed to SCH and met with the Paediatric Neurology team.
“We discussed different treatment options and we went away to think about the next steps,” Sophia’s father Max said.
During that time, blood samples were sent off overseas to see if Sophia was eligible for one of the options, a gene-therapy medication called Zolgensma®.
The development of Zolgensma® has changed the outlook dramatically for children with SMA, as it treats the condition at its root cause. The approach involves a single injection that inserts a functioning copy of the missing Survival Motor Neurone 1 gene into the patient’s cells.
Sophia was pre-symptomatic, so a treatment like Zolgensma® meant she could have the best possible outcome before nerve damage was evident. As her family considered the options, Sophia was accepted as a candidate for Zolgensma® and offered compassionate access and treatment in Australia.
Sophia was one of at least 26 patients who were treated with Zolgensma® in during its clinical development and prior to PBS listing. SCH participated in an international clinical trial called SPR1NT, led by Associate Professor Michelle Farrar, Paediatric Neurologist at SCH and UNSW.
“We know that early identification is vital in the treatment of SMA and that is what the newborn screening program has allowed us to do. It has radically shifted our model of care and we are now in a position where we can rewrite the history of SMA,” A/Prof Farrar said.
Following TGA approval in Feb 2021, Zolgensma® was able to be purchased, at a cost of almost $3 million. However, this has all changed now that the drug has been listed on the Pharmaceutical Benefits Scheme (PBS) and is now free of charge.
Sophia spent about ten days in Sydney, attending as a day patient and received the gene replacement therapy on the second day there.
“It was quite scary at first, but she's done really well with the treatment. She has been achieving all her developmental milestones which we are very happy and thankful. So now it’s just about looking forward to Sophia’s future,” Kaitlin said.
As Sophia grows up she may have some physical challenges, but nothing obvious to the naked eye.
For now, her parents are happily watching their baby grow, reaching all her developmental stages, and enjoying these moments with her.