Молодежный инновационный вестник

2415-7805

Федеральное государственное бюджетное образовательное учреждение высшего образования "Воронежский государственный медицинский университет имени Н.Н. Бурденко" Министерства здравоохранения Российской Федерации

9381

Conference Proceedings

Experience of long-term use of Nusinersen in the treatment of spinal muscular atrophy types II, III

Frolkova

Kseniya Alexandrovna

k.barbara07117@gmail.comhttps://orcid.org/0009-0001-5419-7377Shanina

Elizaveta Sergeevna

shaninaliza@mail.ruhttps://orcid.org/0009-0001-7920-692XTadtayeva

Zara Grigorievna

MD, Professor of the Department of Pharmacology with a course in Clinical Pharmacology and Pharmacoeconomicstadtaeva2003@mail.ruhttps://orcid.org/0000-0002-5809-1457

St. Petersburg State Pediatric Medical University

19042024

13S1228228

11022024

14042024

2024

Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease with an autosomal recessive type of inheritance, characterized by increasing degeneration of motor neurons of the anterior horns of the spinal cord with the development of flaccid paralysis and muscular atrophy. An analysis of three clinical cases was carried out, during which positive dynamics was revealed in patients taking the Nusinersen - motor functions significantly improved. There were no side effects on the background of long-term administration.

spinal muscular atrophyNusinersen

спинальная мышечная атрофияпрепарат Нусинерсен

Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease with autosomal recessive inheritance characterized by increasing degeneration of -motoneurons in the anterior horns of the spinal cord with the development of flaccid paralysis and muscular atrophy.The disease occurs at an incidence of 1/7-10,000 newborns and is a leading cause of early infant mortality. SMA is caused by a mutation in the SMN1 (Survival Motor Neuron1) gene, which encodes the survival motor neuron protein SMN (survival motor neuron protein). This protein is expressed universally and is involved in pre-mRNA splicing, transportation of mature mRNA and axon growth. Introduction of Nusinersen into clinical practice for pathogenetic treatment of SMA allows to improve motor activity, life expectancy, and quality of life of children with this pathology. Nusinersen is an antisense oligonucleotide that provides targeted drug delivery to spinal cord a-motoneurons and limits its biodistribution. Purpose of work: To analyze clinical cases of patients with SMA types II, III, to evaluate the efficacy and safety of the drug Nusinersen in long-term (2-3 years) treatment. Materials and methods: 3 clinical cases of patients with SMA types II, III aged 14, 11 and 7 years, confirmed by molecular genetic study, were analyzed. The drug was administered intrathecally in dosage according to the instructions. Two patients were treated for 2 years, 1 patient - for 3 years. Results: Positive dynamics of motor functions was observed in all patients against the background of therapy. Two children significantly increased the volume of movements, began to raise their arms above the shoulder girdle level, fine motor skills improved, muscle strength increased from 2-3 to 4 points. In the third patient the tremor in hands decreased, it became easier to pedal the simulator. No side effects were noted in any of the observations. One child had a transient headache associated with lumbar puncture. Conclusions: Pathogenetic use of Nusinersen allowed significant improvement of motor functions of patients with different types of SMA and, therefore, should be carried out at early stages of the disease diagnosis. Long-term follow-up data (2-3 years) showed no side effects in therapy.

Заваденко Н.Н., Влодавец Д.В. Л.О. Бадалян и современные достижения в изучении наследственных нервно-мышечных заболеваний // Неврологический журнал им. Л.О. Бадаляна. 2020. С. 64-72.

Стародубов В.И., Зеленова О.В., Витковская И.П., Абрамов С.И., Оськов Ю.И., Стерликов С.А. Первое обсервационное эпидемиологическое исследование по определению распространенности спинально - мышечной атрофии на территории Российской Федерации // Современные проблемы здравоохранения и медицинской статистики. 2020. №4.

Репина А.А., Ясак А.С. Обоснование расширения программы неонатального скрининга в Российской Федерации // Аллея Науки. 2023. С. 176-181.

Erin E. Neil, Elizabeth K. Bisaccia. Nusinersen: A Novel Antisense Oligonucleotide for the Treatment of Spinal Muscular Atrophy. // Pediatr Pharmacol Ther. 2019. P. 194-203.