Contents
SMA, or spinal muscular atrophy, is a rare genetic disease. About 1000 children are affected by it in Poland. Over 600 of them receive effective treatment, and several dozen more have been qualified for the drug program. What is the diagnosis and treatment of this disease? What role does screening play?
- The vast majority of spinal muscular atrophy is revealed in infancy or early childhood. Every year in Poland about 50 children are born with this genetic defect
- Early diagnosis of the disease plays a huge role in the treatment of SMA. Newborn screening can help. The pilot program was to start in early 2021, but so far the Ministry of Health has not given any details
- Poland is a European leader in terms of the percentage of children participating in the drug program. We can strengthen our position precisely by screening and “catching” those 50 newborns a year before they develop symptoms
- You can find more up-to-date information on the TvoiLokony home page
Spinal Muscular Atrophy – What Is This Disease?
Spinal Muscular Atrophy (SMA) is a genetically determined disease. The cause of SMA is a mutation in the SMN1 gene that causes the body to not produce enough of the protein responsible for the survival of motor neurons. Deficiency of this protein causes the death of motor neurons, which in turn leads to the weakening of all skeletal muscles (including those responsible for movement, breathing and swallowing).
The disease occurs at a frequency of 1: 6. In the vast majority of cases, symptoms appear in infancy or early childhood, but the disease may also appear in adults. Untreated SAM is the most common genetic cause of death in children under two.
The risk of having a baby with SMA is related to a mutation in the fifth chromosome. The mutation involves damage to both genes responsible for the formation of the SMN protein. One in 35 people in the population is the carrier of this mutation. Spinal muscular atrophy is revealed in a child if it inherits the gene mutation from both parents. If she inherits the mutation from one, she becomes a carrier but won’t develop symptoms.
About 1000 children in Poland suffer from SMA. Every year, about 50 babies are born who will develop spinal muscular atrophy at some point in their lives. How to recognize this condition?
See also: The most expensive drug in the world – given to children with SMA
Preventive screening of newborns
Effective therapies for the treatment of spinal muscular atrophy have been available since 2016 in the world, and since 2019 in Poland. However, it is important that treatment is started as early as possible, preferably before symptoms of the disease appear.
The latest results of the NURTURE clinical trial, presented in June 2020, confirm previous observations that there is nothing more important than starting nusinersen treatment before patients develop the first symptoms of the disease. Such an early, presymptomatic initiation of therapy gives the child a chance that he will develop almost like his healthy peer. This relationship is indicated by the group of 25 children participating in the study, who were diagnosed and treated in the first six weeks of life, before they developed symptoms. All children develop amazingly.
After over 4 years of uninterrupted therapy, 100 percent. of them remain alive. Little patients feel better and better, they all breathe on their own and sit without help, and 88 percent. of them also walks on his own. Most toddlers achieve the so-called milestones of development in the same period as their healthy peers. In the natural course of SMA, these children would not be able to move around or breathe independently
– explains prof. Maria Mazurkiewicz-Bełdzińska, president of the Polish Society of Pediatric Neurology, head of the Department of Developmental Neurology, UCK, Medical University of Gdańsk.
That is why early diagnosis for SMA is so important. The Ministry of Health had plans to introduce a limited screening pilot to start in early 2021, but its future is uncertain.
– Early treatment implementation depends on presymptomatic diagnosis. This is what screening tests for all newborns in Poland are to serve. We already have a promise from the Ministry of Health that the screening for SMA will start at the beginning of 2021 as a pilot, most likely in the province. Mazowieckie and Łódzkie. Unfortunately, so far there are no implementing rules in this regard – emphasizes prof. Maria Mazurkiewicz-Bełdzińska.
Currently, diagnostic tests for SMA can be done privately. Genetic screening for SMA for newborns and children is available on Medonet Market. You can see the offer here. A blood sample collection kit with detailed instructions can be ordered at home.
See also: Screening tests – when and for whom?
Treatment of SMA in Poland. We are leaders in Europe
Treatment for SMA has a short but very effective history. Until nusinersen was developed, there was no other causal treatment for this condition. Therapy focused on alleviating complications and improving the patient’s quality of life. The breakthrough came only in 2016, when the listed drug was registered in the United States. In January 2019, access to it was also granted to young patients from Poland. The first reimbursed treatment began at the turn of March and April 2019.
– In Poland, the eligibility criteria for the drug program allow the treatment of SMA in patients with spinal muscular atrophy, regardless of age, type of disease and severity of symptoms. A necessary condition for starting treatment is confirmation of the disease with the result of molecular genetic testing and no contraindications to treatment. The pace of introducing patients to treatment is a phenomenon on a global scale. Thanks to the involvement of the medical personnel involved in the implementation of the drug program, it was possible to treat approximately 2/3 of the patient population in a very short time. Currently, 666 patients receive therapy under the drug program (data as of November 15). Another group of several dozen people is already qualified for treatment and awaiting administration of the drug – says prof. Katarzyna Kotulska-Jóźwiak, chairman of the Coordination Team for the Treatment of Patients with Spinal Muscular Atrophy, Department of Neurology and Epileptology at the Children’s Memorial Memorial Institute.
We are the only country in Europe that has made it possible to treat such a large number of SMA patients in such a short time. The youngest child was treated only 20 hours after birth.
– Poland is a leader in Europe in terms of the percentage of patients who started treatment within a specified time, and the rate of inclusion of patients into the program. We are dealing with a situation in which the emergence of treatment options for another group of patients is such an incredibly strong stimulus that teams in neurological departments, in order to enable their patients to be treated as quickly as possible, worked at 110%. – says prof. Anna Kostera-Pruszczyk.
Since we manage to treat patients with SMA so effectively, screening for this disease should be a must.
– Thanks to screening, about 50 newborns born in Poland each year with the genetic mutation determining the development of SMA will be able to live normally, because they will receive treatment before they develop symptoms of the disease – explains Dorota Raczek, president of the SMA Foundation.
The editorial board recommends:
- Certain diseases caused by chromosomal aberrations
- Examples of diseases caused by monogenic disorders
- Hearing testing in newborns can affect later development
The article is based on the press materials of the SMA Foundation and PTND
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