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

<b>Background:</b> 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. <b>Methods:</b> 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. <b>Conclusions:</b> 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.

Authors

Publication Details

Journal
Journal of Clinical Medicine
Published
2024-12-03
DOI
https://doi.org/10.3390/jcm13237366
Citations
2
Primary Topic
Neurogenetic and Muscular Disorders Research
Type
article
Field-Weighted Citation Impact
0.88
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

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

Joanna Stankiewicz, Urszula Skarżyńska, Natalia Mazanowska, Agata Lipiec et al.
2 citations
Journal of Clinical Medicine
Neurogenetic and Muscular Disorders Research
0.88
article

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

Joanna Stankiewicz, Urszula Skarżyńska, Natalia Mazanowska, Agata Lipiec, Monika Goś, Elżbieta Stawicka, Milena Wyszczelska-Namięta
article en
2 citations

Abstract

<b>Background:</b> 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. <b>Methods:</b> 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. <b>Conclusions:</b> 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.

Journal of Clinical MedicineVol. 13(23)
Good health and well-being
Openalex Percentile: Top 22%
Neurogenetic and Muscular Disorders Research
0.88
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

The First Patient in Poland Treated for SMA with Nusinersen During Pregnancy — Joanna Stankiewicz, Urszula Skarżyńska, et al. · Journal of Clinical Medicine (2024) | TGRS Research Map | TGRS