More than 450 participants attended the first International Scientific Congress on Spinal Muscular Atrophy.
Spinal muscular atrophy is a pathology in which research is progressing, trials are increasing, and the first treatment is accessible to patients according to regulatory modalities that differ from one country to another (post-MA in France). It is in this context that is in full development that SMA Europe, the federation of SMA or neuromuscular disease associations in Europe, more than 450 researchers, clinicians, members of the pharmaceutical industry, patients, and young researchers gathered at the end of January in Krakow, Poland.
Three days to tackle many topics, from basic research to therapeutic approaches:
- An update was given on recent progress in understanding the different functions of the SMN protein, the protein responsible for the disease. Today, it appears that SMN not only regulates neurons but also intervenes in muscle functions. New perspectives for future research.
- Many interventions have focused on regulatory genes and epigenetic mechanisms modulating the severity of the disease.
- Specialists came to present approaches combining different treatments in preclinical studies and shared preliminary data on treatments in clinical trials. It was the opportunity to have an update on the results obtained with nusinersen (Biogen), which we now know improves the patient’s condition but does not cure all the symptoms. In light of these new elements, novel patient care should therefore be put into perspective.
- The question of diagnosis induced by new treatments and its management was also considered, which also involved the question of post-natal SMA diagnosis (at birth).
- A workshop was devoted to neonatal screening in the general population.
- Finally, an update on the Olesoxime trial was presented. As a reminder, the objective of the current OLEOS trial is to evaluate, over a period of 4 years, the safety, tolerance and efficacy of the molecule in affected patients. It has been reported that the beneficial effects continue and that the benefits on respiratory capacity remain. Encouraging results to follow.
