Pharmacotherapy for SMA in children benefits all patients

In the report "Spinal Muscular Atrophy and Treatment of SMA in Poland. New quality of life for patients and carers ”, the first data from real clinical observation for pediatric groups are presented. How would you summarize the results of this observation?

First of all, we have a very large group of children whose treatment was successfully summarized. This is a group of 298 patients, of which only six did not complete the first year of treatment. The rest of the group, i.e. 292 children, continued treatment longer. It is a treatment that can be kept safe and effective for a long time. We have not had any case of a child whose treatment had to be discontinued due to intolerance. We also did not have any case of a child who met the criteria of therapy failure. Such criteria include failure to inhibit disease progression. SMA is inevitably progressive and, if left untreated, leads to the development of disability. Before the treatment era, the most severe disease was the most common genetically determined cause of mortality in young children and infants. The minimum plan is to stop the progression of the disease. This was achieved in all patients. Almost 90 percent of improvement was achieved, which in progressive disease of the nervous system is completely unattainable without treatment.

So it can be said that every child who participated in this observation benefited from the treatment?

Yes, for sure, but our appetites are rising. We get used to stabilization and improvement very quickly. However, this is not the end of the possibilities for improving the situation in SMA. From April this year, we have at our disposal a unique tool that allows us to change the fate of patients. It is a newborn screening test, which covers all children born in Poland from April. Such a test makes it possible to start therapy very early, i.e. at the stage when the symptoms of the disease are still invisible or completely minimal. The treatment implemented in this way makes it possible for the patient to never develop symptoms of the disease or develop them so small that they will not significantly affect their quality of life.

In the case of implementing any innovative treatment, we talk about the safety aspect. His research is carried out by the monitoring system of therapeutic programs. How does nusinersen fare in this context?

As I mentioned, we have not had an intolerance shutdown. The route of administration is a challenge for some patients. Nusinersen is administered intrathecally, i.e. through the lumbar puncture. This is a path that can be a problem in patients who are ill for a longer period of time or who have persistent lesions of the spine, i.e. severe scoliosis, which is a common complication in the later stages of the disease, especially in those patients who develop symptoms at an early age. In the whole group, we had several children who took advantage of the possibility of being included in oral therapy, which is a chance for them to avoid administering drugs in difficult conditions.

In the case of treating many diseases, we are talking about the fact that Poland is just catching up with the rest of the world. In this case, it seems to be ahead of her.

We have a well-functioning drug program. The effects of the treatment are very good. Moreover, during the three months of the program, with no additional hospitals or departments or doctors, rehabilitators or nurses, we were able to recruit over two hundred patients, and in the first six months - almost five hundred. Such a pace resulted from the deep conviction of all those who participated in it that time counts very much and each patient waiting for treatment has a function to win, which he managed to keep and which can be maintained. In the drug program, we also have an additional element that plays a very important role. It is the seed of integrated care. There are records of what consultations and care is required for patients enrolled in the program.

Thank you for the interview.