Gene therapy research a breakthrough for children with SMA

Game-changing gene therapy has been trialled across Sydney Children’s Hospitals Network (SCHN) to help children diagnosed with Spinal Muscular Atrophy (SMA).

SCHN was the only Australian site selected to participate in the global SPR1NT trial which investigated the use of Zolgensma®, a novel viral vector-based gene replacement therapy, and was also one of the largest global recruitment sites with four patients enrolled from SCHN.

The novel viral vector-based gene replacement therapy Zolgensma® works by treating SMA at its root cause, inserting a functioning copy of the defective gene into the cells, and for this to be most effective, early identification is vital.

SMA affects the motor nerve cells in the spinal cord, causing progressive muscle weakness and preventing babies from being able to roll, sit up, crawl, walk and eventually breathe. Until recently, it was the leading genetic cause of infant death in Australia, occurring in 1 in every 10,000 births.

Since the introduction of SMA into the newborn screening program in 2018, more than 200,000 babies have been screening, which has helped significantly with early identification of the condition.

In addition to the newborn screening program, the NSW Government has invested $25 million to boost the state’s capability to manufacture viral vectors – the key components of this type of therapy which holds great promise for novel treatments for other genetic diseases.

The SPR1NT trial was delivered by the Clinical Research Centre at SCHN and was supported by Luminesce Alliance.