The first child from the Silesian Province to be diagnosed with spinal muscular atrophy (presymptomatic - asymptomatic child) during neonatal screening has received gene therapy. This is one of the most expensive therapies in the world, reimbursed by the National Health Fund!
The first child from the Silesian Province to be diagnosed with SMA ( Spinal muscular atrophy) under the Ministry of Health's neonatal screening programme received treatment on 21 July 2023 at the Upper Silesian Children's Health Centre, a SUM hospital. The boy was born on time and in good general condition.
- If there had been no universal neonatal screening, we would not have diagnosed the condition at such an early stage (in an asymptomatic patient like this one), and consequently treatment could have been implemented only after the appearance of symptoms indicating the progression of the disease, such as breathing disorders, swallowing disorders and poor motor activity, explains Professor Ilona Kopyta, MD, from the Department of Child Neurology at the Silesian Medical University in Katowice.
This was the case before the era of widespread neonatal screening. Currently, children with a diagnosis of SMA, established by screening, receive treatment according to the therapeutic programme, i.e. reimbursed by the National Health Fund. It is possible to select a drug within the programme, and the decision to use a particular preparation must be dictated by the child's specific health situation and discussed and agreed with the Parents.
Registration studies, i.e. studies conducted in children still asymptomatic, before gene therapy was registered for widespread use, show a significant difference between the natural course of the disease in type 1 and the course observed in children who received treatment after neonatal screening. Achievements were observed, such as sitting independently and, in some children, also walking ! This observation will continue for a period of several years after the administration of the drug.
- Once a child has received gene therapy, as recommended in the therapeutic programme, he or she will be closely monitored as to the developmental progress achieved and the results of laboratory tests. The gene therapy is administered once as an intravenous infusion lasting approximately one hour. The cost is approximately PLN 9 million. It is the most expensive therapy in the world,' says Prof Kopyta and adds: - 'Within the therapeutic programme, SMA can be treated in Poland with both nusinersen (intrathecal administration) and evrysdi (syrup), but also gene therapy (one intravenous administration) can be used,' explains Prof. Ilona Kopyta and explains: - Neonatal screening, i.e. tests performed on newborns in the first days of life, is aimed at detecting conditions that do not produce symptoms during this period of life and therefore cannot be detected clinically (by observing the patient's symptoms). The presence of clinical symptoms is an indication of disease progression.
- The point of neonatal screening is that after early detection of the disease (in the so-called pre-symptomatic or presymptomatic patient), we have a treatment which provides an opportunity to significantly modify the course of descent," says Professor Ilona Kopyta,
A well-known example of a genetically determined disease for many years is phenylketonuria, which, if untreated, in its so-called natural course is characterised by significant delay in psychomotor development and intellectual disability, inhibition of head circumference growth (microcephaly) and epilepsy. The implementation of treatment, consisting in the administration of phenylalanine-free milk mixes (instead of the usual milk mixes) following an abnormal screening test result in a newborn, allows the child's development to be normal and therefore diametrically opposed to a child who would receive a mix with phenylalanine.
Currently, all newborn babies in Poland are screened for spinal muscular atrophy, among other things, as part of the Government Screening Programme. If the result confirms the diagnosis of the condition, the next step is to verify it and determine the copy number of the so-called spare gene, SMN2. It is the SMN2 copy number, in turn, that is used as an indicator to predict the course and type of the disease.
Spinal muscular atrophy is a disease that affects around 1,000 people in Poland and has a varied course depending on the type of condition. Every year about 50 newborns are born in Poland who will develop symptoms of this disease. The most common is type 1 (about 70 % of SMA patients), which is characterised by failure to acquire the ability to sit up unaided and the development of symptoms of swallowing disorders and respiratory failure. All symptoms are due to damage to the anterior horns of the spinal cord and the prognosis for survival beyond 2 years of age in this type of condition is unfavourable.
Type 2 is characterised by the ability to sit up on one's own, but the child does not walk, while type 3 is characterised by the ability to walk on one's own, which, however, disappears with time, and the patient in adulthood usually only moves in a wheelchair, emphasises Prof Kopyta.
SMA is a progressive disease - a genetically affected infant does not present symptoms (is presymptomatic), but symptoms start to become evident around 2 -3 months of age, such a picture is characteristic of type 1 SMA. This is why it is so important to detect the disease as early as possible, which is made possible by the Screening Programme and the application of treatment.
Currently, there is a therapeutic programme for spinal muscular atrophy in Poland, which allows for the use of one of the three currently registered drugs, i.e. nusinersen (registered in Europe in 2017, administered into the spinal canal), rysdyplam
( administered orally) and gene therapy, which is administered intravenously by drip. The therapeutic programme in Poland treats patients with all types of the disease, both children and adults.
- Every year, 50 newborns with SMA are born in Poland, at least five in the Silesian Voivodeship, which means that therapy will soon become somewhat common, concludes Professor Kopyta.
