Pathogenetic therapy of spinal muscular atrophy in the clinical practice of a pediatrician in Penza region

Abstract

Background. Orphan diseases are a large group of nosologies that are lifethreatening or steadily progressive conditions that, if left untreated, can cause death or lead to disability. Depending on the age of onset of the first clinical symptoms and the severity of movement disorders, 4 types of spinal muscular atrophy (SMA) are distinguished. The most severe form is SMA type 1, which is manifested by a decrease or lack of motor activity even in utero, which makes it difficult to prescribe pathogenetic therapy in a timely manner and leads to mortality in infancy. The purpose of the study is to analyze the experience of using pathogenetic therapy with Nusinersen in pediatric patients with SMA in clinical practice. Materials and methods. On the basis of the Penza Regional Children’s Clinical Hospital named after N.F. Filatov since May 2015, 6 patients with SMA who have been receiving pathogenetic therapy with Nusinersen since May 2020 have been observed. The availability of drugs is carried out within the framework of financing by the State Fund of the Russian Federation “Circle of Kindness”. The introduction of the drug was carried out on the basis of Penza Regional Children’s Clinical Hospital named after N.F. Filatov in the intensive care unit under general anesthesia. Every 6 months, follow-up and assessment of motor skills using the Hammersmith Hospital Extended Motor Function Scale (HFMSE) is performed. Results. According to the conclusion of the examination of a team of medical specialists consisting of a neurologist, geneticist, pediatrician and the results of laboratory tests, no side effects after Nusinersen therapy were detected. Against the background of treatment with this drug, there is a positive trend in the form of improved muscle tone, gait, and the emergence of new motor skills. Conclusions. The effectiveness and safety of Nusinersen in real clinical practice in children of different age groups with SMA types 1-4 were demonstrated, despite the introduction of this drug into therapy 10-20 years after the diagnosis of SMA.

Keywords

• children
• orphan diseases
• spinal muscular atrophy (sma)
• nusinersen
• pathogenetic therapy