SMA Europe organised the first European SMA Research Congress, which took place in Krakow, Poland, between 25th & 27th January 2018.
Our first congress was a resounding success. 432 people, from 37 countries, participated. The majority were researchers (39%), followed by clinicians (30%), industry (13%) and patient representatives (12%).
The programme included 35 oral presentations across 7 topics, 75 posters as well as workshops and sessions with pharmaceutical companies who have programmes for SMA. We were delighted to be able to offer a Best Investigator Award, which went to PhD student Eva Janzen (Institute of Human Genetics, Cologne, Germany) as well as 3 best poster prizes, which went to Dr. Sukrat Arya (Oxford University, UK), Dr. Agnes Poirier (Roche) and Linda Lowes (Nationwide Children’s Hospital, USA).
Several main themes emerged during the congress, which will have high priority in SMA research in the years to come.
Pre-clinical research is focusing on gaining a better understanding of the changes in cellular mechanisms that lead to SMA and, specifically, on the function of the SMN protein. Research over the past decade has shown that tissues and cells other than the motor neurons are also affected in SMA, although not as severely. 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 extent 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 views 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.
The clinical sessions of the congress focused on Spinraza and other therapies that are still under development. We learned that 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 have come-up which will need to be addressed in research over 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 has become 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 the coming years.