Nusinersen treatment in adults with severe spinal muscular atrophy: A real-life retrospective observational cohort study.

Background And Objectives: Spinal muscular atrophy (SMA) is a progressive neurodegenerative disease due to homozygous loss-of-function of the survival motor neuron gene SMN1 with absence of the functional SMN protein. Nusinersen, a costly intrathecally administered drug approved in 2017 in Europe, induces alternative splicing of the SMN2 gene, which then produces functional SMN protein, whose amount generally increases with the number of SMN2 gene copies.

Methods: We retrospectively collected data from consecutive wheelchair-bound adults with SMA managed at a single center in 2018-2020.