Hope for children with Spinal Muscular Atrophy

Children newly diagnosed with the devastating genetic condition Spinal Muscular Atrophy (SMA) now have access to novel new gene therapy, Zolgensma®, free of charge, thanks to its listing on the Pharmaceutical Benefits Scheme.

Announced today by Federal Health Minister Greg Hunt, Zolgensma®, which normally costs $2.5 million per treatment, now joins two other publicly funded therapies on offer for SMA - Nusinersen and risdiplam.

Sydney Children’s Hospitals Network was the only Australian site selected to participate in the global SPR1NT trial, which investigated the use of Zolgensma®.  The study, which followed each participant until aged 18 months, found that all children achieved the ability to sit independently, all were alive and free of permanent ventilation and all had normal swallow function and were fed exclusively by mouth by 18 months of age.

Until a few years ago, SMA was the leading cause of death in infants under two years old, occurring in 1 in 10,000 births. Untreated SMA prevents babies from being able to roll, sit up, crawl, walk and eventually breathe. For babies with the most severe form of the disease, average life expectancy was just nine months.

Since the addition of SMA to the NSW Health funded newborn screening program almost four years ago, more than 330,000 babies have been tested for the condition free of charge and given quick access to treatment and support.

According to Associate Professor Michelle Farrar, early identification and treatment is proving transformational for children with SMA.

“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.

Read more on the SPR1NT trial, which was delivered by the clinical research centre at Sydney Children’s Hospital, Randwick. This important research was also supported by our partners including Luminesce Alliance and UNSW Sydney.