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Tuesday, February 27, 2024

Prof. Kostera-Pruszczyk: “There are observational results of adult patients with SMA. They surprised us”

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– In the case of people who have advanced changes associated with SMA, it is impossible to return everything that the disease has taken away. However, treatment stops the progression of the disease and brings gradual improvement. For an increasing number of patients, this improvement means improved ability to function daily, says the professor. Anna Kostera-Pruszczyk, Head of the Department and Clinic of Neurology, UCK WUM, Expert Center for Rare Neuromuscular Diseases ERN EURO NMD.

Children diagnosed with SMA may never develop SMA symptoms thanks to neonatal screening: this is an excellent outcome. However, it turns out that there are also excellent treatment effects in adults. In August of this year, the international scientific journal Orphanet Journal of Rare Diseases published a Polish publication on long-term observations of nusinersen treatment in adult patients who began treatment, often already having very serious consequences of the disease. What do these results show? How effective is treatment for adults with SMA?

Prof. Anna Kostera-Puszczyk: In Poland, we have been able to treat people with spinal muscular atrophy (SMA) since the beginning of 2019: both children and adults. We began to treat adult patients, knowing the natural course of the disease and understanding that spinal muscular atrophy is always a progressive disease, including in the so-called period. chronic forms, that is, SMA2 and SMA3. Our dream, based on our knowledge of how this disease progresses, was to stop the progression of SMA. When asked what effect they expected from treatment, patients also talked about stopping the progression of the disease.

We recently summarized the results of a 30-month follow-up of adult patients treated at the Department of Neurology of the Medical University of Warsaw and the Department of Neurology of the hospital. Ridyger in Krakow. They were published in the rare disease journal Orphanet. I must say that the good results surprised us. It turns out that the treatment significantly improves function (even in patients with very advanced stages of the disease), measured on various scales: both complex, assessing different muscle groups, and a scale used to assess the function of the upper extremities. This is extremely important because many of our patients cannot move independently and use wheelchairs. For them, good upper limb function often means the ability to learn and work, the possibility of high independence (with very good manual dexterity); or significant independence (if upper limb function is somewhat preserved).

Research shows that these functions improve with treatment…

It turns out that the patient’s condition improves with each subsequent dose of the drug. Thus, we see not only an improvement up to the 14th month of therapy – which we knew from publications in other countries, primarily Germany and Italy, where adult patients gained access to treatment earlier than in Poland – but also in the following months and years of drug use. administration.

This means that our patients—despite sometimes decades of severe illness—still have room to achieve functional improvement. This is fantastic, because stopping the progression of the disease is already a success, and we see the improvement that patients talk about. It is important to note that this improvement can be seen in terms of statistical analysis (120 patients were included in our study). This is very important evidence that the effectiveness of the therapy is maintained and that improvement even increases over time.

It is also surprising that the effectiveness of therapy is almost 100 percent: all patients report stabilization of the disease, and the vast majority experience improvement.

The molecular mechanism of the disease is the same in all patients, regardless of whether SMA was diagnosed in the presymptomatic period (as is currently the case when newborns are screened) or symptomatically, and even many years later, when serious consequences are observed, the disease is already visible. The mechanism of action of the drug is designed in such a way that it is likely to be effective in all patients – both children and adults, regardless of whether symptoms occur and how severe they are. Nusinersen was registered in Europe for all these indications and thus received reimbursement under the drug program in Poland.

Today, with more than 30 months of follow-up, we have tangible evidence that the effectiveness of the treatment has definitely exceeded our predictions from many years ago, which made us dream of stabilization. We have seen improvement in many people.

How will this improvement impact patients’ lives?

This definitely affects their daily functioning. We also asked patients about their subjective opinion. 100 percent feel at least stabilized, and 85 percent report improvement.

The impact on daily life varies from patient to patient and much depends on their condition before treatment. Thanks to the treatment, many of our patients decided to continue their education and study. There are people who worked part-time and now function well enough to work full-time. Another person is able to go several hours a day without the support of a respirator and can function outside the home, which was previously impossible. Our patients gain greater independence and autonomy, become stronger and more productive, which directly affects their performance and quality of life.

With all the positive results, it is important to remember that therapy should be started as early as possible, preferably presymptomatic: then it is most effective. For people with the progressive changes associated with SMA, there is definitely no way to turn back the clock and get back everything that the disease has taken away.

It can be said that drug therapy stops the progression of the disease and gradually improves it. For an increasing number of patients, this improvement becomes clinically significant, i.e. it leads to improvement and improved ability to function daily.

First of all, patients are no longer afraid of disease progression; can they think about the future?

These are, of course, huge changes that occur primarily in the “head” and emotions. Already in the first year of treatment, our patients often said: “I’m starting to plan,” “I’m starting to dream,” “I’m not interested in what function I will lose this year, but what kind of function I will be.” capable of doing.” This is a fantastic reversal of the poles: they are not afraid of what bad consequences the disease will bring, they are simply wondering how much they can do despite SMA.

In the case of spinal muscular atrophy in Poland, we already have screening tests for newborns, three treatment methods are available, and all patients can be treated: both children and adults. Can we say that this is a model nursing program? What else can be improved?

Today Poland is one of the European leaders in the field of system solutions for the diagnosis and treatment of SMA. Of course, all this must be continued; we cannot imagine any step back. Much has been done, we see how necessary and effective it is.

In the coming years, we will definitely publish data on children who started treatment in the presymptomatic period. We will monitor what is achieved with available treatments. However, medicine is moving forward, and our expectations – both of patients and doctors – are growing. I believe that it is very important, both for SMA and other diseases associated with a high degree of disability, to improve patients’ access to compensated rehabilitation and provide them with high-quality, coordinated, multidisciplinary care. This is another very important element that must also appear in our healthcare system. We follow new clinical studies, many Polish centers are participating in them. There are studies of new dosing regimens for already registered drugs, as well as some treatments that offer hope for even greater improvement by adding another drug to the one already available to Polish patients. We hope that science has not yet said the last word regarding SMA patients receiving symptomatic treatment.

Should we want future treatments in neurology to be as effective as those for SMA?

Definitely yes. There’s a lot going on in neuroscience that makes us happy. I also wish for all of us an increase in the number of neurologists, because as a professional group we are getting older and older, and our patients today and in the future will require the care of dedicated, well-educated physicians. I hope that we can count on many young doctors who will decide to become neurologists and connect their lives with this special group of patients who are in great need of it.

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Source: Wprost

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