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Pavlova S.I., Prokopeva V.R., Milova O.I., Pavlov A.A.
Analysis of the Effectiveness of Pathogenetic Pharmacotherapy for Spinal Muscular Atrophy in Children in the Chuvash Republic
Keywords: spinal muscular atrophy, SMN protein, SMN1 gene, SMN2 gene, motor function assessment scales, pathogenetic therapy, Nusinersen, Risdiplam
Since 2020, pathogenetic pharmacotherapy of spinal muscular atrophy in children has been introduced into use in the Chuvash Republic. To date, the results of more than two years of using Nusinersen and Risdiplam have been accumulated. The aim of the study was to generalize the experience of pathogenetic pharmacotherapy for spinal muscular atrophy with an assessment of the factors determining its effectiveness in children in the Chuvash Republic. Materials and methods. A retrospective analysis of medical records of 15 inpatient patients with spinal muscular atrophy who were treated in the settings of the neuropsychiatric department of the Republican Children's Clinical Hospital under the Health Ministry of Chuvashia for the period from 2020 to May 2023 was carried out. The effectiveness of therapy was evaluated using clinical scales for assessing motor functions recommended for patients with spinal muscular atrophy. Study results. In the group of patients with severe manifestations (type I spinal muscular atrophy), clinical improvements in motor functions during treatment were observed in 50%, there was no positive dynamics in 30%, deterioration was registered in 20%. Attention should be paid to the fact that at the early start of therapy (up to 6 months after the disease manifestation), at least a slight increase in motor functions was observed in 100% of patients. On the other hand, the effectiveness of Nusinersen and/ or Risdiplam was observed in none of the patients with type I or II spinal muscular atrophy at late therapy, but these patients also repeatedly observed deterioration of motor functions. During the period of observing the children, even when the facts of improvement in motor function in points were established, swallowing disorders and respiratory failure often progressed, which required probe feeding and continued artificial pulmonary ventilation. At this, no facts of developing undesirable adverse reactions to medications were noted. Conclusions. The analysis of pharmacotherapy with Nusinersen and Risdiplam in children with spinal muscular atrophy in the Chuvash Republic indicates a better effect of pathogenetic therapy at its early onset and a lower initial severity of the disease. It should be noted that there was no significant improvement in the quality of life in any of the cases. In addition, in order to effectively use these drugs, objective methods should be developed to assess the survival of motor neurons and the quality of life, as well as to recommend the timing of pathogenetic therapy initiation.
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About authors
- Pavlova Svetlana I.
- Doctor of Medical Sciences, Head of the Department of Pharmacology, Clinical Pharmacology and Biochemistry, Chuvash State University, Russia, Cheboksary (flavonoid@yandex.ru; ORCID: https://orcid.org/0000-0001-9976-7866)
- Prokopeva Vitalina R.
- Clinical Pharmacologist, Vice Head, Republican Pediatric Clinical Hospital, Russia, Cheboksary (p.vitalina82@mail.ru; )
- Milova Oksana I.
- Head of Psyhonevrological Department, Republican Pediatric Clinical Hospital, Russia, Cheboksary (milova.rdkb@yandex.ru; )
- Pavlov Anatolii A.
- Chief Physician, Republican Pediatric Clinical Hospital, Russia, Cheboksary (doctorpavlov@mail.ru; )
Article link
Pavlova S.I., Prokopeva V.R., Milova O.I., Pavlov A.A. Analysis of the Effectiveness of Pathogenetic Pharmacotherapy for Spinal Muscular Atrophy in Children in the Chuvash Republic [Electronic resource] // Acta medica Eurasica. – 2023. – №3. P. 33-41. – URL: https://acta-medica-eurasica.ru/en/single/2023/3/4/. DOI: 10.47026/2413-4864-2023-3-33-41.