Just a few years ago, the prognosis for spinal muscular atrophy (SMA) was unfavorable. This began to change in January 2019 with the launch of the model drug program B.102, through which patients received the world’s first therapy—nusinersen. Another milestone in the fight against the disease was the introduction of newborn screening for SMA, allowing children to receive treatment before the first symptoms appear. In September 2023, two additional therapies registered in Europe became available, which might have suggested that the range of therapeutic options in Poland was complete. However, the Ministry of Health went a step further—in April of last year, a decision was made to continue treatment for pregnant women with SMA using the first registered therapeutic agent.
“We are currently witnessing a major, almost Copernican breakthrough concerning diagnostic possibilities, but above all in the treatment of diseases that were previously considered incurable. Of course, this applies only to selected diseases. SMA is one such example, but so are Pompe disease or Fabry disease. Patients now have a chance at a normal life,” said Prof. Konrad Rejdak, MD, PhD, Head of the Department and Clinic of Neurology at University Clinical Hospital No. 4 of the Medical University of Lublin, and the regional consultant for neurology of the Lublin Voivodeship, in an interview with Newseria.
The drug program for spinal muscular atrophy is regarded as a model program not only nationally but also on the European scale. It includes all currently registered treatment options as well as newborn screening. Thanks to this, SMA can be diagnosed and treated even before symptoms develop.
“We evaluate both the SMA treatment program and the program itself as very good. Full access to nusinersen was granted in 2019 to those who needed it, and this continues. Over 50% of treated cases use this drug. Since 2022, gene therapy with onasemnogene abeparvovec has been introduced. A single administration causes significant improvement and, in many cases, effectively cures these very young infants who previously had no chance of such treatment or therapeutic effects. Since then, a third drug, the oral risdiplam, has also been introduced, which complements the range of SMA treatment options. This comprehensive drug program provides multiple therapeutic possibilities for SMA,” emphasized Deputy Minister of Health Dr. Marek Kos.
In recent years, the possibilities for reimbursed SMA treatment in Poland have significantly expanded—not only regarding available therapies but also extending indications for their use. Since April of last year, nusinersen can be administered to pregnant women because the drug has proven safe for them. Clinical trials are also ongoing to evaluate the possibility of using higher doses than those specified in the drug’s product characteristics.
“In pregnant women receiving the drug, we expect improvement in their functioning and, above all, the ability to carry the pregnancy to term and deliver a child. We have such an example here in Lublin—one mother with an advanced form of SMA, treated with nusinersen, gave birth to a healthy boy. The medication strengthened her enough to successfully carry the pregnancy and deliver a healthy baby,” said Dr. Magdalena Chrościńska-Krawczyk, Head of the Department of Pediatric Neurology at the University Children’s Hospital in Lublin and regional consultant in pediatric neurology for the Lublin Voivodeship.
Nusinersen is a drug about which substantial knowledge has already been gained based on real-world clinical practice data. It turns out that treatment outcomes can be even better than those demonstrated in clinical trials. The therapeutic goal is to halt disease progression at the stage present when treatment is initiated. Some patients also show functional improvement. This may be related to the theory of motor neuron remodeling. Every human is born with a fixed pool of motor neurons; in SMA, some remain functional while others are permanently lost. Researchers believe there is still a pool of neurons that can be saved from damage, which is achieved through treatment.
“At the Department of Pediatric Neurology in Lublin, the first patients received nusinersen as early as autumn 2018 under compassionate use programs. These patients were either mildly symptomatic or already showing initial SMA symptoms. They continue to receive the drug as part of the drug program. Use of the drug has definitely slowed disease progression. Of course, this depends on the stage at which treatment was initiated. Patients treated before symptoms appeared or when symptoms were mild show marked slowing of disease progression. Even patients treated later, with more advanced symptoms, show improvements in functional scales used to assess SMA patients. However, better results are observed in patients with milder symptoms,” explained Prof. Magdalena Chrościńska-Krawczyk.
Neurology centers affiliated with the Medical University of Lublin are reference centers where the most advanced therapies are implemented. One challenge the healthcare system must address—according to experts—is adjusting the pricing of services provided within drug programs to market realities. Some centers hesitate to initiate these programs due to low cost-effectiveness, which is especially relevant amid delays in reimbursement by the National Health Fund.
“We have undertaken great efforts to launch these programs, which require extensive knowledge, are time-consuming, and involve high costs. We pride ourselves in the region on having succeeded. We realize that the number of patients diagnosed will grow, as will the number of programs. More staff will be needed, which presents challenges, as well as ensuring continuous financing. Remember, these therapies are expensive, and the medical facility implementing them essentially finances the costs upfront—both drugs and medical personnel—and then waits for reimbursement. Therefore, financial liquidity is crucial to enable medical centers to carry out these tasks,” noted Prof. Konrad Rejdak, adding, “If other centers see that it is feasible and that financial problems do not arise, they will be more willing to undertake these activities to shorten the patient’s pathway to treatment.”
A critical moment in caring for patients diagnosed and treated during childhood is the transition from pediatric to adult care. The centers around the Medical University of Lublin have developed an efficient model for patient handover. However, in many other regions, this remains a problem. Sometimes adult or pediatric centers are missing in certain cities, making care organization very difficult.
“Professors from our centers cooperate very well. We have this transition very well organized, which is a problem in some other voivodeships. Here it functions very well, and I see no current need to increase the number of centers. We respond quickly to entities that approach us wanting to implement all these procedures,” emphasized Deputy Governor of Lublin Voivodeship, Andrzej Maj.
