On the horizon: opportunities to tackle neuromuscular disease SMA

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On the horizon: opportunities to tackle neuromuscular disease SMA

Spinal muscular atrophy (SMA) is a neuromuscular disorder that results in progressive muscle weakness and motor deficits. Much about the disease is still unknown, and so more research and interdisciplinary collaboration is needed to unravel SMA’s mysteries. Ludo van der Pol, head of the SMA Expertise Center at University Medical Center Utrecht expects that ‘there will be some groundbreaking developments in the next ten years that will eventually lead to people with hereditary disorders, which were long considered untreatable, gaining a completely different perspective.’ Hope is on the horizon.

Opportunities within the IMPACT project 
Bartels: ‘If we look at the potential of the IMPACT project, then we soon hope to have a platform available that can determine the effects of therapies at an early stage. Another thing we’ve learned from the IMPACT project is that we can look very closely at muscle composition in SMA. Ultimately, we can use that knowledge to design training interventions. That is becoming increasingly important because our population is getting older and we want to make and keep people as healthy as possible throughout their lives.’ Therefore, this project is a good example of supporting the third mission of the Mission-driven Top Sectors and Innovation Policy.

Paving the way
In the Health~Holland IMPACT project, a consortium is working on elucidating pathophysiological processes in muscle tissue and exploring biomarkers for early effects of treatment. Van der Pol and Bart Bartels are participating on behalf of University Medical Center Utrecht. Bartels believes that ‘the IMPACT project is a good example of what future research will focus on, namely personalised treatment for which the efficacy can be determined at an early stage to minimise costs and patient burden’. Van der Pol and Bartels both believe that the IMPACT project has laid the path towards realising this.

Expensive medication and COVID-19 as barriers 
Although the IMPACT project provides many opportunities, there are also some challenges. 'It is increasingly difficult to give expensive medication a place in the treatment of SMA patients’, states Van der Pol. He believes ‘this is a field of tension. The cost-effectiveness must be balanced with the interests of patients with a rare disease’. The COVID-19 crisis has also hindered the research because patients could not come to the hospital, and researchers were asked to work from home. ‘This has caused delays in the project, but we are doing our best to catch up’, says Bartels.

However, Van der Pol does not think that medicine is the answer to everything. ‘We have to see the treatment of SMA patients in a broader context. Not only through medication, but also through promoting physical activity and the prescription of training programmes. Furthermore, I think that bringing those different parts of the treatment together will be a major challenge in the coming years. I think the IMPACT study can also teach us very important lessons in that regard.’

The value of working in a consortium 
Finally, Van der Pol believes that the project would not have been possible if it wasn’t done in some form of consortium. ‘It is incredibly refreshing to work with people from different research departments, companies and foundations, because they provide such a different perspective and ask critical questions. Van der Pol and Bartels both recognise that the foundation Spieren voor Spieren played a crucial role in forming the consortium for the IMPACT project. ‘From the outset, there was just an incredible amount of enthusiasm and energy from the people at Spieren voor Spieren, and that made it a very unique and special project for us’, concludes Van der Pol.

 

*The IMPACT project is realised in a consortium with University Medical Center Utrecht, University Medical Center Groningen, Spieren voor Spieren, and Wavetronica.