Spinal muscular atrophy (SMA) was, until recently, an incurable disease leading to severe disability and death. However, for the past few years, it has been treated with a groundbreaking therapy that has been made available to nearly all patients in Poland. Research conducted after more than five years of treatment shows that 80% of these patients have experienced significant improvements in their health and quality of life, manifested in greater independence and a return to normal daily functioning. Over 70% of pediatric patients have noticed that some symptoms of SMA have completely disappeared, and 80% of patients have reported a significant improvement in their well-being and psychological comfort.
“The results of the report, which reflects the satisfaction of patients—both pediatric patients and their caregivers, as well as adults treated under the NHF drug program—are very good and clearly show that patients have benefited from this therapy. This is consistent with the positive results we observe when regularly assessing the functional status of patients with spinal muscular atrophy. This seems crucial because good therapy brings both a medical effect that the doctor can observe, but also has a positive impact on the patient’s daily life,” says Prof. Dr. Anna Kostera-Pruszczyk, Head of the Neurology Clinic at the Medical University of Warsaw and the Rare Neuromuscular Disease Expert Center, in an interview with Newseria Biznes.
SMA, or spinal muscular atrophy, is a rare and severe genetic disorder that causes weakening and gradual atrophy of muscles responsible for movement, breathing, and swallowing, leading to severe disability and premature death. In most cases, SMA symptoms appear in infancy and involve the severe form known as SMA 1. Until recently, this disease was the most common genetic cause of death in children under two years old. Approximately 50 children are born with SMA each year in Poland, and since 2021, a screening program for SMA in newborns has been in place. However, adults also suffer from the disease, primarily those with the chronic forms known as SMA 2 and SMA 3, who make up about 50% of the patient group. It is estimated that there are currently about 1,200 people with SMA in Poland.
For SMA patients, there was practically no treatment available until a few years ago. Doctors could only prescribe symptomatic treatment and rehabilitation. However, this changed in 2016 with the registration of the first groundbreaking therapy, nusinersen, which modifies the course of the disease. In Poland, it was relatively quickly included in the reimbursement program B.102 in 2019, which is currently implemented in 35 centers across the country and covers almost the entire group of SMA patients.
“After a few years since effective treatment became available in Poland, the quality of life for SMA patients is steadily improving,” says Dorota Raczek, President of the SMA Foundation. “Since we have both drug reimbursement and SMA screening, we can talk about a success when it comes to SMA patients. It is incredible how early we diagnose spinal muscular atrophy, how early we administer therapy tailored to the patient, and how we see very significant effects of this treatment.”
Poland was one of the few countries that decided on such broad reimbursement (the only exclusion being contraindications to the drug, while in most countries, there are, for example, age restrictions). Thanks to this, SMA is now the best-treated rare disease in Poland.
The recently published PEX report, “Patient Experiences with SMA Treatment with Nusinersen: Satisfaction with Treatment and Quality of Life,” shows that a total of 80% of SMA patients—90% of pediatric patients and 66% of adult patients—stated that the effects of the therapy met their expectations.
“In the opinion of 12% of pediatric patients and 10% of adult patients, this therapy even exceeded their expectations, meaning the improvement in their health and the effects of the therapy are better than they initially expected,” says Tomasz Kiełczewski, Director of Consulting at PEX and co-author of the report.
He notes that the slightly lower satisfaction rate among adult SMA patients (66% vs. 90% for pediatric patients) is mainly due to the fact that their treatment was initiated at a much later stage of life, making their disease state more severe.
“However, the effectiveness of this therapy is reflected in the fact that 80% of adult SMA patients would recommend it to other SMA patients. This seems to be the ultimate confirmation that the effects of this therapy are satisfactory for patients,” says Tomasz Kiełczewski.
In the survey conducted for the PEX report, both pediatric and adult patients indicated positive effects of nusinersen therapy in key areas affecting their quality of life. Over 70% of pediatric patients noticed that some symptoms of SMA completely disappeared due to nusinersen therapy. Adult patients highlighted improvements in motor and hand functions, greater endurance, as well as better emotional well-being and social functioning as the most important effects of the therapy. This is also confirmed by clinical studies conducted so far—according to a study published in August 2023 in the international scientific journal “Orphanet Journal of Rare Diseases,” nusinersen treatment in all adult patients leads to disease stabilization, and in 94% of cases, to noticeable improvement in functional status over time.
It is also significant that both groups of patients reported a marked improvement in their well-being and psychological comfort, manifested in greater joy in life, increased independence, motivation, and relief from anxiety about the future. In the PEX survey, a total of 80% of SMA patients reported better emotional well-being after nusinersen therapy. Doctors emphasize that this impact of therapy on patients’ quality of life is no less important than the clinical efficacy of the drug.
The PEX report shows that in the five years of the B.102 drug program, the lives of patients have changed for the better. However, both doctors and the patient community point out that there is still a need for significant improvement in the coordination of care for SMA patients.
“SMA is a multi-organ disease, and it is important to have not only pharmacotherapy—though, of course, this is one of the main points, as we need to stop the progression of the disease—but also well-planned physiotherapy, which accelerates and enhances the improvement of health. It is also important to remember about cardiological and orthopedic care, as well as the nutrition of an SMA patient. This multi-disciplinary care for a patient with spinal muscular atrophy is very important, but at the moment, it remains an unmet need,” emphasizes Dorota Raczek.
