Study of the Safety and Efficacy of an Adeno-Associated Viral Vector Carrying the SMN Gene After a Single Intravenous Administration of Escalating Doses in Children With Spinal Muscular Atrophy (BLUEBELL)

Government1. institutionState republicanInstitution scientificRepublican Scientific and practicalPractical centerCenter "Mother and Child" Federal State Autonomous Educational Institution of Higher Education "N.I. Pirogov Russian National Research Medical University" of the, Ministry of HeathcareHealth of the Russian Federation. Children's clinical hospital. Federal State Autonomous Educational Institution of Higher Education "N.I. Pirogov Russian National Research Medical University" of the, Ministry of HeathcareHealth of the Russian Federation Federal State Autonomous Institution "National M [...] [...]

[...] dy Subject with Informed Consent Form; A diagnosis of 5q-SMA established clinically and confirmed by molecular genetic testing (homozygous deletion of exon 7 of the SMN1 gene or heterozy [...] f exon 7 + confirmed point mutation of the SMN1 gene) and 2 or 3 copies of the SMN2 gene, established based on molecular genetic testing; Subjects with an2 copies of the SMN2 gene can be included in the study both at the presymptomatic stage of the disease and in the presence of SMA symptoms. If symptoms are present, the age of onset of the disease should be up to 180 days from birth;. Subjects with 3 copies of [...] [...]

[...] d as DLT starting from CTCAE 5.0 grade 4. At the first stage, in the absence of DLT events in three subjects in the same cohort, an ID will be assigned, and an infusion will be administered to the first subject i [...] subsequent subjects/study is suspended. AT the second stage, if the IDMC judges that the potentially therapeutic dose wa [...]