Translation of transformative therapies in child neurology: treating children with spinal muscular atrophy

Spinal muscular atrophy is a treatable neurodegenerative disease and an exemplar for development and clinical translation of transformative therapies in child neurology.


With the first approved therapies, Spinal Muscular Atrophy (SMA) is now a treatable neurodegenerative disease.  This long awaited first steps may provide meaningful benefits to patients and their families, along with new challenges and opportunities for clinicians and researchers. This presentation will discuss the development and clinical translation of therapies for SMA, beginning with reviewing the genetic underpinnings. The mechanisms of action of new technologies, such as molecular and gene replacement therapy, and major findings of clinical trials will be discussed, along with the various benefits and limitations. With the reality of novel therapies, there are many uncertainties regarding timing of treatment initiation, response to intervention, treatment effects and long-term outcomes, which are complicated by the evolving phenotypes seen in the post-treatment era for patients with SMA. Biomarkers of disease, with diagnostic, prognostic, predictive and pharmacodynamic value are thus urgently required, to facilitate a wider understanding in this dynamic landscape and guide future patient-targeted treatments and will be appraised. Progress thus far in treating SMA shows the potential of a collaborative research approach and new technologies to transform medicine.

Speaker Biography:

Michelle Farrar is an Associate Professor in Pediatric Neurology at the School of Women’s and Children’s Health, University of New South Wales and Consultant Neurologist at Sydney Children’s Hospital Randwick. Her research focus is clinical pediatric neurology, neuromuscular disorders and neurophysiology, aiming to further understand disease pathophysiology, develop treatment strategies and improve patient and family centered multidisciplinary care and support.