The introduction of nusinersen has completely changed the prognosis of patients with spinal muscular atrophy, emphasizes Prof. Magdalena Chrościńska-Krawczyk, head of the Department of Pediatric Neurology at the University Children's Hospital in Lublin. Thanks to the therapy, children with the most severe form of SMA, who just a few years ago were dying of respiratory failure, are now alive and thriving. However, the expert points out that treatment options can still be expanded, and a higher dose of nusinersen offers a chance to further improve patients' functioning.
SMA: "We can do more". Experts want the next step
Published May 14, 2026 14:38
SMA is a disease in which the battle is fought over every motoneuron responsible for proper muscle function. How has this battle been affected by the first registered therapy?
With the first registered therapy in 2019, the situation for patients with spinal muscular atrophy in Poland, both children and adults, has changed dramatically, thanks to nusinersen therapy. Before the era of treatment, as far as the pediatric population was concerned, children with SMA mainly type one died in the first years of life due primarily to respiratory failure. In contrast, the possibility and introduction of treatment made it possible to save these children and slow the progression of the disease. Therefore, this was undoubtedly a huge breakthrough that sparked further action within SMA, which, thanks to patient organizations and doctors, has led to the fact that at this point we are leading the way as far as Europe is concerned. We have newborn screening for SMA, we have three registered therapies, but we want more.
And what treatment effects do you observe in your patients receiving the standard dose of nusinersen?
Patients are improving on functional scales, which makes me very happy. But there is a group of patients who reach a certain ceiling, reaching a certain number of points in the functional scales, that is, they reach a point where they seem to have achieved everything they could achieve. They don't fall in the scores. They hold on - colloquially speaking - in such functions that they have already received, in functional scales. They obtain a certain ceiling. On the other hand, we know on the basis of clinical studies, the DEVOTE study, or the results of studies from other countries, that a higher dose of nusinersen in those patients who have already achieved a certain degree in the functional scales, thanks to the use of this higher dose, it is still possible to get something more out of them, colloquially speaking, and improve their functioning even more, which is reflected in the functional scales just used. And in addition to that, we also see a further decrease in neurofilaments, which in turn is associated with a decrease in neurodegeneration, with slower neurodegeneration.
You mentioned that we have a world-class program. Does this mean that this higher dose of nusinersen is not reimbursed in other countries?
No. Nusinersen in the higher dose has already been registered and is reimbursed in six or seven European countries. It is reimbursed in Germany, in Austria, in Luxembourg, in Sweden. Yesterday, Denmark joined the reimbursement. Therefore, more and more countries are introducing nusinersen in a higher dose under reimbursement, and we, as a community of pediatric neurologists and neurologists, are waiting for this reimbursement in Poland to also come to fruition as soon as possible, so that we can further help our patients with spinal muscular atrophy.
