Progress in the treatment of spinal muscular atrophy, together with Poland’s drug programme, has completely changed the picture of the disease within just a few years. In some patients, the therapy has not only halted disease progression but has also led to improvements in motor function. By covering patients of all ages and introducing newborn screening, Poland has become one of Europe’s leaders in SMA treatment. Doctors and patient organisations say that further decisions could strengthen these therapeutic gains even more. The first SMA treatment approved in the EU was nusinersen in 2017, and the EMA’s current product information now includes both the original 12 mg regimen and a higher-dose 50/28 mg regimen.
Spinal muscular atrophy is a rare genetic disease that causes progressive muscle wasting due to a deficiency of SMN protein. According to the SMA Foundation, around one in 35 people in Poland is a carrier of the mutation that causes SMA. Each year, 30 to 50 babies are born with the disease in Poland, and the total number of patients is estimated at more than 1,600. In its natural course, the most severe forms of SMA used to lead to respiratory failure and death in the first years of life.
“After almost seven years, we in Poland have access to the therapies that were the first to be approved in Europe, but it turns out that progress in treatment is continuing. Patients are now waiting for the next therapeutic advance: the possibility of treatment with higher doses of the medicine administered intrathecally,” Professor Anna Kostera-Pruszczyk, Head of the Department and Clinic of Neurology at the Medical University of Warsaw, told Newseria.
Nusinersen was the first disease-modifying therapy for SMA approved in the European Union in 2017. The drug is administered intrathecally and works by increasing the production of functional SMN protein from the SMN2 gene, thereby compensating for the deficit caused by mutation of the SMN1 gene. In Poland, treatment is provided in 39 neurological centres.
“The drug allows the patient’s body to produce the right amount of protein needed for nerve cells, and ultimately the muscles, to preserve their function and strength,” Professor Anna Kostera-Pruszczyk explains.
The therapy is used in patients of different ages and at different stages of the disease, which makes it possible to assess its effects across a broad patient population.
“The 2018 reimbursement decision was a breakthrough, because until then spinal muscular atrophy had been a progressive disease, and the only way to slow it down was systematic rehabilitation. Patients in Poland received a tool to fight back, and it turned out that the treatment was very effective. In the first year, many patients received it,” says Dorota Raczek, President of the SMA Foundation. “At present, more than 700 patients in Poland are being treated with intrathecal therapy.”
“We have very good experience based on many years of observation of patients of all ages, both those who started treatment very early and those who had to wait a long time for therapy and therefore began it as adults, sometimes with a fairly advanced form of spinal muscular atrophy. Through very careful observation measured with appropriate scales, we are demonstrating that our patients are gaining new functions and regaining some that they had previously lost,” says Professor Anna Kostera-Pruszczyk.
The use of standardised functional scales makes it possible to compare treatment effects over time and across different patient groups. In practice, this means even small changes can be captured precisely, which is highly significant in a progressive disease. Data from the drug programme show that in children with SMA type 1, the average improvement on the CHOP-INTEND motor scale was 5 points after just three months and 15 points after 19 months. In patients with SMA types 2 and 3, improvement on the same scale reached 8.4 and 8.1 points respectively. A clinically meaningful improvement is defined as at least 4 points on the CHOP-INTEND scale.
The introduction of treatment has also changed patients’ long-term outlook. More and more of them are pursuing education, entering the labour market and leading active social lives, something that in most cases would have been impossible just a few years ago.
“I started nusinersen therapy in 2019. From that moment, my life changed. Until I received the first dose, the disease was taking away functions every six months, and year by year I was getting weaker. It started with gradually losing the ability to walk, then I ended up in a wheelchair, and I could do less and less each day. Suddenly, from 2019 onward, I began functioning better,” says Michał Woroch, a patient and President of the Step by Step Foundation, as well as a traveller, social activist and winner of the Health Ambassador award from Menedżer Zdrowia.
In January 2026, following a positive recommendation from the European Medicines Agency, the European Commission granted marketing authorisation for the higher-dose regimen. In Poland, the Ministry of Health is currently conducting administrative proceedings on extending drug programme B.102 to include the higher dose, which patients are now awaiting. The EMA’s updated product information confirms that two dosing regimens are currently authorised: the original 12 mg schedule and the higher-dose 50/28 mg schedule.
“The study results for the higher dose of our therapy showed that patients continue to gain points. So beyond stabilisation and stopping disease progression, we can see that their condition is improving. For such a person, this can mean a great deal: being able to lift a glass of water or turn on a tap, functions they previously did not have,” says the President of the SMA Foundation. “We are appealing to the ministry for reimbursement as quickly as possible so that we can start receiving the higher dose as soon as possible.”
Many positive changes have been introduced to drug programme B.102, “Treatment of patients with spinal muscular atrophy,” since 2019. In March 2022, universal newborn screening was launched. In the same year, two additional therapies were added to reimbursement. Later, women with SMA were allowed to continue treatment during pregnancy, and the rules on switching therapies were clarified, increasing flexibility in treatment.
“Our drug programme is at a very high level by global standards. We are among the world leaders when it comes to the treatment of spinal muscular atrophy,” says Dorota Raczek.
