Our tremendous trio of bubs - pioneering a new era of treatment at PCH

Courtney and Goldie (left) with Ashley and Struan. Footer image: Kylie and Harrison
November 29, 2022

Perth Children’s Hospital (PCH) is celebrating the role 3 babies have played in helping pave the way for a revolutionary gene therapy treatment to be offered for babies diagnosed with spinal muscular atrophy (SMA).

All babies were diagnosed with SMA and each one has travelled interstate to receive gene therapy treatment at either the Sydney Children’s Hospital Network or the Royal Children’s Hospital in Melbourne.

Until now, travelling interstate for treatment was the only option for families to receive the gene therapy treatment which costs around $3 million.

Now, thanks in part to their experience and their extensive pre and post-infusion care at PCH, the hospital has become the first facility in WA to be accredited to deliver gene therapy to paediatric patients and only the third site in Australia.

SMA is a devastating neurodegenerative disease that causes progressive muscle weakness in babies, preventing them from rolling, sitting, crawling, walking and eventually from breathing.

The single infusion treatment for babies with SMA stabilises the disease progression and allows for improvements in strength, movement and development.

Head of Neurology at PCH Dr Simon Williams said gene therapies, such as the one administered to these babies, not only have the potential to help patients with SMA to survive but also to thrive, completely changing the natural progression of this disease.

He said it was unprecedented for his department to be caring for 3 babies with the same type of SMA, at the same time, following the same gene therapy treatment, particularly given only 3 or 4 babies or children are diagnosed with SMA in WA annually.

“We know an SMA diagnosis is enormously difficult for families which is only exacerbated by their need to act quickly to prevent motor neuron damage which affects their ability to sit, stand or walk.

“These families have all faced a challenging journey and we appreciate the significant contribution they have all made in helping establish gene therapy treatment at PCH.

“This significant milestone will allow families in the future to access treatment closer to home.”

Achieving accreditation has involved a rigorous process of approval from the Office of the Gene Technology Regulator and Novartis.

Dr Williams said while the first gene therapy will be provided to babies diagnosed with SMA, the department is working towards offering gene therapy clinical trials for other neurological conditions in the future.

Newborn screening for SMA is likely to commence later this year which will ensure that babies with SMA are detected early and can receive treatment within the first months of life.

Mother holding baby with SMA diagnosis in regional Australian location