Genes & CellsGenes & CellsГены и КлеткиGenes and Cells2313-18292500-2562Human Stem Cells Institute43746710.23868/gc437467ReviewsНаучные обзорыReview ArticleModern approaches to the treatment of spinal muscular atrophyСовременные подходы к терапии спинальной мышечной атрофииhttps://orcid.org/0009-0007-7295-2405RodenkovEvgeny M.РоденковЕвгений Михайлович
Russian Federation

PhD, Student

аспирант

rodenkov.evgenij@pharminnotech.comhttps://orcid.org/0009-0002-5951-4973KozhemyakinaNatalya V.КожемякинаНаталья Владимировна
Russian Federation

Cand. Sci. (Biol.)

к.б.н.

Kozhemyakina@biocad.ruhttps://orcid.org/0009-0003-6537-3705ZonisYulia A.ЗонисЮлия Александровна
Russian Federation
zonis@biocad.ruhttps://orcid.org/0000-0002-1202-6721GershovichPavel M.ГершовичПавел Михайлович
Russian Federation

Cand. Sci. (Biol.)

к.б.н.

gershovich@biocad.ruhttps://orcid.org/0000-0002-5714-24434030-3540LalaevBoris Yu.ЛалаевБорис Юрьевич
Russian Federation

Cand. Sci. (Chem.)

к.х.н.

boris.lalaev@pharminnotech.comSaint Petersburg State Chemical and Pharmaceutical UniversityСанкт-Петербургский государственный химико-фармацевтический университетBIOCAD13082023031020231831892042105202329072023Copyright ©; 2023, Eco-VectorCopyright ©; 2023, Эко-Вектор2023Eco-VectorЭко-Векторhttps://creativecommons.org/licenses/by-nc-nd/4.0/https://genescells.ru/2313-1829/article/view/437467

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease. The cause of the disease is the presence of mutations in the SMN1 gene, which leads to a decrease in the expression of the SMN protein. Decreased functional activity of the SMN protein contributes to the degeneration of motor neurons. Understanding the molecular genetic cause of spinal muscular atrophy made it possible to develop and start using Nusinersen, Onasemnogene Abeparvovec and Risdiplam drugs in clinical practice for the treatment of this disease. The main approaches to the treatment of SMA are either modifying the splicing of the SMN2 gene, which, due to a point mutation in exon 7, is unable to express the full-length SMN protein, or viral delivery of a functional copy of the SMN1 gene.

Approved drugs differ in peculiarities of use, which are associated, in particular, with the route of administration, adverse reactions and restrictions of use, including restrictions associated with the socio-economic burden of patients with SMA.

The development and use of domestic products for the treatment of SMA with a comparable clinical effect and at a lower price would reduce the cost of drug therapy for severe forms of the disease.

Спинальная мышечная атрофия (СМА) — аутосомно-рецессивное нейродегенеративное заболевание, обусловленное наличием мутаций в гене SMN1, которые приводят к снижению уровня белка SMN. Снижение функциональной активности упомянутого белка способствует дегенерации моторных нейронов. Понимание молекулярно-генетической причины спинальной мышечной атрофии позволило разработать и начать применять в клинической практике препараты Нусинерсен, Онасемноген абепарвовек и Рисдиплам для терапии данного заболевания. Основные подходы к терапии СМА заключаются либо в модификации сплайсинга гена SMN2, который из-за точечной мутации в экзоне 7 не способен производить полноразмерный белок SMN, либо в вирусной доставке функциональной копии гена SMN1.

Одобренные препараты отличаются особенностями применения, которые обусловлены, в частности, способом введения, побочными реакциями и ограничениями для использования, в том числе связанными с социально-экономическим бременем пациентов со СМА.

Разработка и применение отечественных продуктов для лечения СМА с сопоставимым клиническим эффектом и более низкой ценой позволило бы снизить затраты на лекарственную терапию тяжёлых форм заболевания.

Ключевые слова: спинальная мышечная атрофия; СМА; SMN1; SMN2; Нусинерсен; Рисдиплам; Онасемноген абепарвовек.

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Available from: https://ct.biocad.ru/nozology/anb-004-1bluebell (In Russ).https://ct.biocad.ru/ [интернет]. BIOCAD. Клинические исследования [дата обращения: 20.07.2023]. Доступ по ссылке: https://ct.biocad.ru/nozology/anb-004-1bluebell