Watch Dr Aicee Calma accept the research grant award and hear a bit about the project.
Project Summary:
Spinal Muscular Atrophy (SMA) and Motor Neuron Disease (MND) are neurodegenerative motor neuronopathies that result in motor neuron loss leading to progressive weakness. In the last decade, there have been significant developments in the care of both SMA and MND patients – with rapidly expanding areas of research into more targeted therapies.
In SMA, both nusinersen and risdiplam, which are disease modifying therapies, have now been approved for use in adults. Similarly, management of MND continues to evolve with the advent of more targeted therapies. This era of evolving therapies has highlighted the need to establish ways to measure disease progression and response to therapy. In addition, it also raises the question of how tools initially validated in the paediatric SMA population can be applied in adult SMA patients.
With support from the Brain Foundation, we will explore the role of clinical, electrophysiological, biochemical, and imaging parameters in a longitudinal study of adult SMA and MND patients. This will involve assessing functional outcomes through standardised clinical assessments; measuring serum neurofilament to assess neuronal injury; ultrasound assessment of muscle architecture; and neurophysiological assessments to examine the degree of motor neuron loss.
Outcomes:
Dr Calma and her team investigated new ways to measure biomarkers in adult motor neuronopathies, focusing on spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS), which is a form of MND. Current methods for assessing lower motor neuron dysfunction can be influenced by technical factors. The team examined ulnar far-field potentials (FFP) as a complementary measure of lower motor neuron dysfunction.
They tested FFP amplitude against established clinical assessments and biomarkers to evaluate its accuracy and clinical relevance. The findings showed that FFP amplitude is a reproducible and promising marker of lower motor neuron dysfunction in both SMA and ALS, with potential to complement existing diagnostic tools. This work supports more accurate assessment of disease severity and progression, helping to improve clinical management and access to effective treatments.
You can read more about these research results in the reports and publications, linked below.
- Progress Report (February 2025)
- Final Report (February 2026)
- Clinical Utility of Far-Field Potentials in Amyotrophic Lateral Sclerosis – Journal Article published in Muscle & Nerve (July 2025)
The Brain Foundation is dedicated to funding the next generation of Australian research into brain disorders, diseases, and injuries, with the ultimate goal of advancing diagnoses, treatments, and patient outcomes.