Treatment of women with SMA during pregnancy: Ministry of Health Provides continuation of treatment

The unusual pregnancy shocked doctors.  This situation happens once in 50 million

We know what the final shape of the new reimbursement list will be, which will come into force on April 1. Among the proposed changes, several are intended to concern the treatment of rare diseases, including spinal muscular atrophy (SMA) in the B.102 drug program. According to the Announcement of the Ministry of Health, pregnant patients with SMA will be able to continue taking nusinersen without having to interrupt the treatment. – Continuation of treatment during pregnancy of all three therapies available for spinal muscular atrophy applies only to nusinersen – emphasizes Prof. Katarzyna Kotulska-Jóźwiak.

This significant change was very positively received by both the SMA community and experts. So far, due to the impossibility of continuing treatment during pregnancy, few patients with spinal muscular atrophy decided to have children.

– I am happy with the decision he requested TeamCoordination for the Treatment of Patients with Spinal Muscular Atrophy. The Summary of Product Characteristics of nusinersen states that there have been no studies on the safety and effectiveness of the drug during pregnancy. However, this does not mean that the drug is absolutely contraindicated. It seems to the group of experts who are part of the Coordinating Team, but also to other people who signed the letter to the Ministry on this matter, that the risk associated with the lack of treatment for spinal muscular atrophy during pregnancy is much greater than the potential risk associated with exposure to the drug. . In other words, we can lose more by not treating patients at this time than by possibly exposing them to side effects, says Prof. Ph.D. n. med. Katarzyna Kotulska-Jóźwiak, head of the coordination team for the treatment of patients with spinal muscular atrophy, head of the Department of Neurology and Epileptology of the “Pomnik – Children's Health Center” Institute.

Pregnant women successfully undergo treatment with nusinersen

According to Dorota Raczek, president of the SMA Foundation, the decision of the Ministry of Health was a change much awaited by adult women suffering from spinal muscular atrophy – We constantly monitored the situation in the world and waited for scientific reports to make sure that treatment with nusinersen in pregnant women does not pose a threat to the child. . The first publications appeared in Portugal last year. They described the case of a girl who was treated with nusinersen during pregnancy and whose child was born healthy. Further information came from Hungary, where a similar case was described. This was an argument for us to abolish the condition included in the drug program that you cannot be pregnant while taking nusinersen. Now, thanks to the changes introduced, the child's parents, together with the doctor, will decide whether to continue treatment or not. It is worth mentioning that we are one of the first countries to treat pregnant women with SMA. Thus, we are once again a world leader in the treatment of this disease.

Prof. Katarzyna Kotulska-Jóźwiak emphasizes that single case reports of pregnant women who continued treatment indicate that the safety of their use of nusinersen is acceptable.

– Treatment certainly protects them from deterioration, but it is still too early to say to what extent. What is important, however, is that in none of the cases known to us, there were no complications involving the patient or her child. Currently, in Poland we are treating one patient who started treatment for spinal muscular atrophy while pregnant, when she was diagnosed with the disease. As her condition deteriorated rapidly, TeamThe Coordinating Office for the Treatment of Patients with Spinal Muscular Atrophy asked the Ministry of Health for exceptional consent to allow the use of nusinersen therapy in her case, to which the Ministry agreed, she adds.

How many women with SMA decided to become mothers?

Due to the inability to continue treatment with nusinersen during pregnancy, there have been very few women who have decided to become mothers so far.

– I know several women who decided to have a child even before the era of treatment. I believe that if we have treatment, there will definitely be many more such women. Currently, thanks to available treatment, women with SMA have a chance to live a normal life. They want to pursue their careers, start families and get married. They feel safer. In this situation, the natural course of events is to have children, says Dorota Raczek

One of the first women in Poland suffering from spinal muscular atrophy who gave birth to a child years ago is Agata Roczniak – president of the Diversum Foundation.

– I always wanted a child and finally in 2009 I decided to have one. Of course, this required checking medical predispositions, and also whether my husband was not a carrier of the mutated SMN 1 gene. 13 years ago, there were no descriptions of practices available anywhere for women with disabilities who had given birth. I only found information from the United States about what anesthesia is like for women with SMA during childbirth. Therefore, I was worried about whether everything would be fine with my health and whether I would be able to cope with the child. The doctors weren't sure about anything, they said – your condition will probably get worse, but we don't know to what extent, so we can't guarantee anything. However, I took this risk. And I actually felt weaker, my condition worsened. If there had been treatment then, this decision would certainly have been easier for me, recalls Agata Roczniak.

New reality

As noted by prof. Katarzyna Kotulka-Jóźwiak, continuation of treatment during pregnancy. Of all three therapies available for spinal muscular atrophy, only nusinersen applies.

– In the case of Risdiplam, the SmPC clearly states that pregnancy is a contraindication to the use of this drug. Preclinical studies, i.e. on animal models, have shown that Risdiplam may adversely affect the fetus, therefore it should not be used during pregnancy. As for gene therapy, it is used in very young children, so it is difficult to talk about pregnancy at all.

As the expert adds, so far spinal muscular atrophy has had an unfavorable prognosis. Its course was severe and resulted in profound disability. – As a result of treatment, the situation of SMA patients is changing and the number of people who will have minor, perhaps no symptoms of the disease as a result of early treatment is increasing. The very fact that in the case of a disease such as SMA we talk about family planning, pregnancy or the safety of treatment during pregnancy shows us how much the situation of patients is changing.

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