Nusinersen treatment in a type 3 spinal muscular atrophy patient during early pregnancy

Schön, Miguel; Domingues, Sara; Carvalho, Mamede de; Santos, Miguel Oliveira

doi:10.1007/s10072-023-06618-x

Neurol Sci

2023

DOI: 10.1007/s10072-023-06618-x

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Nusinersen treatment in a type 3 spinal muscular atrophy patient during early pregnancy

Miguel Schön

Sara Domingues

Mamede de Carvalho

et al.

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2025

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Cited by 2 publications

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Successful pregnancy of an SMA type 3 sitter on Nusinersen therapy - a case report

Hiebeler,

Thiele,

Walter

2025

BMC Neurol

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Background Due to improved treatment options, more SMA patients reach childbearing age. Currently, limited data on pregnant SMA patients is available, especially in relation to disease-modifying therapies (DMT). This case report helps to elucidate new approaches for future guidelines in the management of pregnancy and SMA. Case Report A 33-year-old wheelchair-bound patient with SMA type 3 (sitter) became pregnant following 36 months of Nusinersen treatment. The last dose was administered in the third gestational week. After pregnancy was confirmed, therapy was stopped immediately. A healthy child was born in the 34th gestational week by caesarean section. After a short nursing period, Nusinersen was restarted 6 weeks after the expected gestational date. At this time, the patient reported deteriorated motor functions, which stabilized at a lower level compared to pre-pregnancy in the 2-year follow-up, despite restarting Nusinersen treatment. Discussion So far, only few cases of successful pregnancies of SMA patients on DMT have been reported. In natural history, the majority of patients experienced an increased deterioration of motor function while fetal outcome was not impaired. Our case shows that although Nusinersen treatment was applied in the third gestational week prior to proof of pregnancy, outcome was positive for mother and child. Future studies will have to determine whether ongoing treatment with Nusinersen during pregnancy should be recommended.

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Successful pregnancy of an SMA type 3 sitter on Nusinersen therapy - a case report

Hiebeler,

Thiele,

Walter

2025

BMC Neurol

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The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy

Stawicka,

Skarżyńska,

Lipiec

et al. 2024

JCM

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Background: The accessibility of effective SMA (spinal muscular atrophy) treatment is resulting in a growing number of affected women reaching fertility age and deciding to conceive. Pregnancy in women with SMA is associated with a high risk of rapid progression of symptoms, including increased weakness, growing paresis, or even onset of respiratory failure requiring ventilation support. Muscle weakness frequently leads to disability, which in a high percentage is irreversible. Pre-term labor and delivery by cesarean section are the most commonly described cases in the literature. Methods: This paper aims to describe the first case in Europe, a 21-year-old patient treated with Nusinersen under the drug program during the third trimester of pregnancy. Despite the significant progression of the disease during pregnancy, the patient did not lose gait function. The pregnancy was ended at 33Hbd, and the baby’s condition was unremarkable. In addition to clinical data, this paper also discusses the economic aspects. Conclusions: Thanks to the rapid initiation of treatment, the patient did not lose her ability to walk, and a significant improvement in motor function was observed after the postpartum period. No side effects or negative effects on the fetus were observed.

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Nusinersen treatment in a type 3 spinal muscular atrophy patient during early pregnancy

Cited by 2 publications

References 7 publications

Successful pregnancy of an SMA type 3 sitter on Nusinersen therapy - a case report

Successful pregnancy of an SMA type 3 sitter on Nusinersen therapy - a case report

The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy

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