What’s happening in SMA research?

SMA research is at a critical and exciting stage as there has been a remarkable breakthrough. The first treatment for SMA was approved for use in Europe by the European Commission on 1st June 2017. This compound is marketed by the pharmaceutical company Biogen under the trade name of Spinraza™.

Spinraza™ and other compounds in clinical trials, use strategies to increase SMN levels, the crucial protein involved in SMA, demonstrating that, in its early phase at least, SMA is a treatable disorder.

However, the majority of people currently living with SMA may not benefit from current treatment strategies. Why?

  • It is believed that the principal effect of SMN is during development
  • Patients currently treated with SMN-increasing therapies in infancy appear to show continued progression and may be vulnerable to later life deterioration
  • The method used to deliver Spinraza, an injection into the spine, is highly invasive and may not be availble to all living with SMA.

For these reasons, a comprehensive approach to SMA treatment is required, which takes into account the requirement for therapies to improve and maintain nerves and muscle throughout the lifespan of the individual.

So what are researchers looking at?

The main research themes in SMA

1. To understand the role of SMN in the cell

  • What is the normal role of SMN in cellular function?
  • What cellular pathways are changed in SMA?
  • Are there common mechanisms that link the cellular pathways that are defective in SMA?

2. To understand the impact of SMA beyond the motor neuron. Is SMA in fact a systemic disease?

  • To what extend are cell types other than motor neurons affected in SMA?
  • Why are certain cells more sensitive to a decrease in the amount of SMN than others?
  • Why are motor neurons most specifically affected in SMA?

3. To understand what modifies or determines SMA severity

  • What are, in addition to SMN2 (the back-up gene), genetic determinants of SMA severity?
  • Do further modifying mechanisms exist that determine SMA severity?

4. To find therapies for SMA

  • What are promising therapeutic approaches in addition to Spinraza™?
  • How can SMA be treated in a way that is non-invasive and systemic?

For up-to-date developments

Please click on the links for information on current research areas and other initiatives: