Long-term experience in treating patients with spinal muscular atrophy in Poland: from registry to therapies.

Not just stabilization, but increasingly visible improvement

- Our published results of a long follow-up of 30 months of adult patients with SMA showed, in the form of scores on the relevant scales, what we observe every day, i.e. an improvement in functional status that becomes more pronounced over time," says Prof. Anna Kostera-Pruszczyk, co-author of the study, head of the Department of Neurology at UCK WUM, ERN EURO NMD Expert Center for Rare Neuromuscular Diseases.

- These are very positive results, especially for adults who start treatment after decades of illness, often with very severe paresis. In the study, we showed that in the group of 120 patients we treated, not only did the disease stabilize, but with each successive administration of the drug we saw a slightly greater improvement than the previous one, the expert adds.

After 30 months of follow-up, an increase of 5.1 points was observed in the HFMSE scale, and an increase of 5.59 points in the CHOP-INTEND test (at 26 months of follow-up). The average RULM score improved by 1.96 points at 30 months.

At 30 months of treatment, respectively, clinically significant improvements in the HFMSE scale (≥ 3 points) were found in 71 percent of patients; in the CHOP-INTEND scale (≥ 4 points), in 80 percent; in the RULM upper limb function assessment (≥ 2 points) in 43.5 percent; and in the 6-minute walk test (an increase of ≥ 30 meters) in 50 percent of patients.

The study also assessed patients' subjective opinion of nusinersen's effect on
course and disease symptoms, as measured by the patient's overall impression of improvement(PGI-I) method.

- Satisfaction with treatment is very important. In the survey, we also assessed patients' and their caregivers' feelings about improvement. And here the results were very good at the 30th month - 85 percent. Also at the 30th month, 100 percent of the respondents felt that they had at least stabilized. So, looking through the patient's eyes confirmed that the therapy was effective.

- We will certainly continue to analyze the efficacy and safety of patients treated in the B.102 program, at all ages. Pediatric centers are caring for a relatively new group of them - children who started treatment in the pre-symptomatic period, made possible by an excellent screening program. And we need to develop a model for transferring patients from pediatric centers to those that treat adult patients, a model of multidisciplinary care. Today's excellent results are also motivation to look for new, even better solutions," concludes Prof. A. Kostera-Pruszczyk.

Treatment leading to change in quality of life for patients and caregivers

- Adults with spinal muscular atrophy are a large group. According to registry data maintained for more than a decade by a team from our Department of Neurology at the Warsaw Medical University as part of the global TREAT-NMD registry, they make up a minimum of 50 percent of the population suffering from spinal muscular atrophy. This means that there are about 600 such people in Poland," the data is provided by Prof. A. Kostera-Pruszczyk.

Adults with SMA are primarily patients with the so-called chronic forms of SMA2 and SMA3. A small group are patients with SMA1, i.e. the acute form with onset in the first six months of life. In all these forms, without drug treatment, the disease inevitably progresses.

- The world of SMA patients has changed dramatically over the past five years. We now have 35 centers where all children and the vast majority of adult SMA patients are treated. Access to therapies has caused SMA patients and their caregivers to no longer focus only on survival, but to think about how to improve the lives of the patient and their loved ones, adds Dorota Raczek, president of the SMA Foundation.

Drug program B.102 "Treatment of spinal muscular atrophy" for the world's first registered therapy, nusinersen, was introduced in Poland in January 2019. The treatment was extended to all patients with SMA regardless of age, stage of the disease, or type of SMA. About 1,000 patients are currently being treated under the program.

Some 560,000 newborns have already been screened for SMA

In Poland, such good treatment results and the possibility of prolonged patient follow-up are the result of cooperation between clinicians, the health ministry and patient organizations. This cooperation has made it possible to launch a treatment program for SMA, as well as a nationwide screening of newborns.

As of March 28, 2022, all newborns born in Poland whose parents consented to molecular screening tests are being tested for spinal muscular atrophy. More than 99 percent of newborns are diagnosed.

- We have already screened about 560,000 newborns, 79 children have been diagnosed. As for the screening result, on average, on the 8th-9th day of a baby's life, we already know that the baby has spinal muscular atrophy. We send this result to the referring center. Within 2-3 days of receiving the sample for verification testing, we issue the final result. This is on average around day 14 of the child's life. According to our information, around day 18-19 of the child's life, the child receives treatment," says Monika Gos, MD (prof. IMiD), head of the Developmental Genetics Laboratory, Department of Medical Genetics at the Mother and Child Institute in Warsaw.

- The treatment of spinal muscular atrophy has become a model treatment that can be a model for other genetic diseases to follow. We have rapid diagnosis, rapid administration of therapy, effective treatment and an elaborate system of patient care that has proven itself. We wish such solutions in more rare diseases," concludes Dr. M. Gos.

[1] Lusakowska A. et al. Orphanet Journal of Rare Diseases (2023) 18:230; https://doi.org/10.1186/s13023-023-02769-4

Press material Department of Neurology of the Medical University of Warsaw - ERN EURO NMD