Introduction: Until recently there were no treatment options, apart from supportive therapies for Spinal Muscular Atrophy (SMA), a rare neuromuscular disorder. After numerous years supporting infants, children and their families effected by SMA, the treatment landscape has now changed. In this presentation I will share my experiences and role as clinical nurse consultant, as new advanced therapeutic agents went from clinical trials to a business-as-usual model for children affected with SMA, Australia wide.
The Story: SMA is caused by a gene mutation affecting the production of the survival motor neuron protein (SMN1) causing atrophy of the motor neurons and therefore decreased muscle movements. Those affected have high healthcare needs as they may never learn to sit, crawl or walk. In the severest type infants die within the first few months to year of life.
A newborn blood-spot screening (NBS) initiative in New South Wales, Australia, to identify newborns with the missing SMN1 gene, coincided with a newborn cohort SMA clinical trial in the United States of America. Australia could therefore participate in this international trial for the advance therapeutic gene agent, known as Zolgensma®. Remarkably infants treated from birth were reaching their expected motor milestones and leading near normal healthy lives.
Working in collaboration with national and international stakeholders between 2020-2022, more than 38 infants/children with SMA from across Australia were treated with Zolgensma®, more than any other single site in the world. This led to Australia's first gene therapy treatment pathway policies for children with SMA, which were adopted Australia wide.
Conclusions: The national success relied heavily on my experience within the SMA space and my ability to collaborate with stakeholders both here and overseas. Providing Zolgensma® in a timely manner to newborn infants identified through NBS has been lifesaving and life changing for these infants and their families.