Pharmacotherapy in SMA is a breakthrough in the lives of patients

You are the co-author of the report "Spinal Muscular Atrophy and SMA Treatment in Poland. New quality of life for patients and carers ”. What are the conclusions of this report?

The most important conclusion from the report on the treatment of patients with spinal muscular atrophy in Poland is that during these few years we have managed to extend the treatment to a very large population of patients of all ages, from children to adults, including presymptomatic patients. What is our greatest joy today is that we see the effectiveness of this therapy in all patients. Not a single patient was excluded from the program due to loss of efficacy. This is a very important argument for treating all patients and seeing their next successes.

You mentioned that no patients were excluded from the study due to drug failure. Do clinical observations confirm that nusinersen is of benefit to every group of patients?

We have observations that come from the functional scales we report, appropriately matched to the age and severity of the disease. We can therefore say that it was not only possible to reverse the natural course of SMA, which is a progressive disease without treatment. So the stabilization of the patient's condition would be a huge success. However, we can see that the condition of our patients is improving. Sometimes you have to wait for this improvement, but we also have our own data, which clearly say that each subsequent administration of the drug is associated with a significant further improvement in the group analyzed by us. It is not only the first year of therapy that raises the patient's functions to a much higher level. This effectiveness takes longer.

Poland is the only country in Europe where a large number of patients are treated with nusinersen. That's over 830 people. We have 3.5 years of experience in administering this drug. How was it possible to achieve such a high level of inclusion in this relatively short period of time?

Poland was very well prepared for this revolutionary change, which was the introduction of pharmacotherapy in a previously incurable, genetically determined disease. The clinic where I have been working for over a decade keeps a registry of patients with SMA. So we knew quite well where these patients were and how many there were. More than half of SMA patients are adults, so it is not purely a pediatric disease. We also had our own scientific achievements and a group of fantastic pediatric neurologists who took the possibility of treating this progressive disease as a great opportunity for patients and engaged in it without hesitation.

We are talking about access to breakthrough therapy. How does this translate into the quality of life for patients and their carers?

Our patients talk about what therapy changes in their lives in different ways. Instead, they agree that instead of waiting for their form to deteriorate inevitably, they can take actions that they have not done before. For example, they continue their studies, work full time, or spend more time in a way that is their individual definition of freedom. Many caretakers of our patients are their increasingly older parents and this is also a great hope for them. When treating a person with SMA, we are actually treating their entire environment. Our patients are people full of fantastic plans and they do things that I myself would not dare to do. They dive, hike high mountains, do a third faculty or open new businesses. This breakthrough is a total change in the lives of our patients, their increasing independence and the fact that they decide about their own lives more and more.

Thanks for the interview.