HOPKINS SYMPOSIUM
Synopsis
In the last decade, we have seen genetic therapies leap from the benchtop into the neuromuscular clinic. This process is most dramatically illustrated by spinal muscular atrophy (SMA), which was until recently the most common genetic cause of death in infancy. In the era of genetic therapies, presymptomatic treatment of infants with SMA diagnosed on newborn screening can be transformative, providing affected children with outcomes as close to ‘cure’ as possible.
In this Grand Round, we reflect on our experience of establishing clinical trials for genetic therapies, and supporting the development of the newborn screening program for SMA. While there have been notable victories, there have also been challenges and learning points, involving logistics, resources, and service development. In addition, the power of genetic therapies has raised unexpected sticky questions that stretch our communication skills and ethical thinking.
As genetic therapies increasingly enter routine practice, we hope to pool the experiences and strategies of clinicians and scientists across our campus, to optimise the benefits and mitigate the risks of precision medicine.
Speakers
Dr Eppie Yiu is a paediatric neurologist and lead of the neuromuscular and demyelination programs at the Royal Children’s Hospital. Eppie has an interest in optimising outcomes for children with neuromuscular disorders, clinical trials, and timely implementation of best practice care and new therapeutics. She is the principal investigator of the Australian Neuromuscular Disease Registry.
Dr Kate Irving is a paediatric neurologist and medical historian with a particular interest in complex disability and its impacts on transition to adult services, advanced care planning, and bioethics.
Dr Ian Woodcock is a paediatric neurologist at RCH and the Murdoch Children’s Research Institute, and completed a PhD in 2024. He was involved in the translational change to prepare the Melbourne Children’s Campus to be an approved gene therapy centre, culminating in the first patient being treated in July 2021. Ian is principal investigator for five current and planned gene therapy clinical trials in SMA and Duchenne Muscular Dystrophy.