SMA Europe’s International Scientific Congress on Spinal Muscular Atrophy

SMA Europe International Scientific Congress on Spinal Muscular Atrophy

SMA Europe held its first International Scientific Congress on spinal muscular atrophy in Kraków, Poland between January 25th and January 27th, 2018.


Dr. Ewout Groen, our research communications adviser, reports on this exciting event.

A record number of 463 delegates attended a packed programme that included 35 oral presentations across 7 sessions, 75 poster presentations, and several workshops and special sessions with pharmaceutical companies which have programmes for SMA. The broad scientific programme included presentations that ranged from the basic biological function of the SMN protein to clinical biomarker studies, to updates on the latest clinical trial developments. Instead of trying to summarise this vast amount of research in a way that will not do justice to the scope and quality of the presented research, it is perhaps worth discussing several main themes that emerged during the meeting and will have high priority in SMA research in the years to come.

Pre-clinical research focuses on gaining a better understanding of the changes in cellular mechanisms that lead to SMA and, specifically, on the function of the SMN protein. The SMN protein is present in all tissues and cells in the body. Yet SMA is mainly a disease that affects motor neurons, the neuronal cell type that controls muscles and therefore movement. Research over the past decade has shown that other tissues and cells are also affected in SMA, although not as severely as motor neurons. The importance of these so-called non-motor symptoms of SMA was subject of significant debate during the congress. As increasing numbers of patients are now receiving Spinraza treatment –that specifically improves the function of motor neurons– it is possible that, in Spinraza-treated patients, non-motor symptoms become more pronounced. Thus, the extend and importance of non-motor symptoms in SMA will be the subject of further research.

Moreover, many cellular mechanisms are changed in SMA because levels of the SMN protein are low. In fact, so many cellular mechanisms have now been identified to play a role in SMA that it becomes increasingly complicated to understand which mechanisms are crucial to maintain healthy motor neurons. Although different researchers have different ideas and view about this, there was much agreement that better understanding on mechanistic links between apparently separate cellular pathways and how to prioritise the involvement of specific cellular mechanisms in SMA should be a main focus of research in years to come.

Clinical research currently focuses on Spinraza and other therapies that are still under development. Clinical trial updates show that still promising progress on therapies other than Spinraza is being made, highlighting the possibility that further treatments might become available in the near future. However, as more details become available on the response of patients to therapies, a number of issues and challenges came up that will need to be addressed in research in the coming years. For example, past clinical trials used relatively crude measures to determine the effect of novel therapies, such as survival and reaching motor milestones such as sitting unaided. However, it becomes increasingly clear that, for some patients, the benefit from therapies such as Spinraza can be quite subtle –yet still meaningful. Therefore, sensitive and unbiased measures, such as MRI scans, are likely to become more important to follow disease progression in SMA patients. In addition, several speakers addressed the current complexity of providing Spinraza to an increasingly large group of patients. The challenging logistics and complex delivery of Spinraza suggests there will be a role for other, less invasive SMA treatments in the clinic in coming years.

Key Points to take home

  • The first international congress on SMA to be organised in Europe was very successful
  • Amongst a large variety of research topics discussed at the meeting, several research themes of particular importance emerged
  • Pre-clinical research will focus on identifying SMN requirements in different tissues and investigating the relationship between the many cellular mechanisms affected in SMA
  • Clinical research will focus on identifying detailed measures to follow disease progression, particularly in patients that receive Spinraza or other treatments
  • Current clinical studies on Spinraza and other therapies continue to provide promising and very positive results whilst also highlighting considerable logistical and practical challenges in making sure to provide access to therapy to as many SMA patients as possible

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