Experience of Nusinersen in children with proximal spinal muscular atrophy 5q in Moscow region

Background. Proximal spinal muscular atrophy 5q (5q-SMA) is a severe autosomal recessive neuromuscular disorder characterized by progressive flaccid paralysis and caused degeneration of α-motor neurons in the anterior horns cord resulted from mutations SMN1 gene encoding survival motor neuron (SMN) protein. These patients have pronounced limitations activity their life expectancy between several weeks decades. The development implementation causal therapy improved quality increased SMA patients. Nusinersen one first drugs approved for Russian Federation. It an antisense oligonucleotide drug that increases production full-length SMN Aim. To confirm efficacy safety children with type I–III Moscow region. Materials methods. A total 22 been receiving since 2020. Treatment outcomes were evaluated using Children’s Hospital Philadelphia Infant Test Neuromuscular Disorders (CHOP INTEND) I Hammersmith Functional Motor Scale Expanded (HFMSE) II–III SMA. Results. All completed stage loading doses, including 1 patient treated 5 years (18 injections), 3 (12 10 2 (9 4 more than year (6 less (5 injections). Patients demonstrated scores after therapy. also had some improvement higher HFMSE doses followed positive dynamics This article contains cases need early treatment initiation immediately diagnosis. Conclusions. We corroborated routine clinical practice different types