Watch Dr Aicee Calma accept the research grant award and hear a bit about the project.
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.