Evaluation of the therapeutic efficacy and tolerability of current drug treatments on the clinical outcomes of paediatric spinal muscular atrophy type 1: A systematic review

Spinal muscular atrophy (SMA) is a severe hereditary lower motor neuron disorder characterised by degeneration of alpha motor neurons in the spinal cord, resulting in progressive weakness and paralysis of proximal muscles. A systematic literature search was carried out by using PRISMA guidelines and searching through different databases that could provide findings of evidence on the health outcomes of the approved therapies for the management of paediatric SMA type 1 regarding efficacy with follow-up in terms of motor and respiratory functions and the tolerability and incidence of adverse drug reactions (ADRs) post-treatment from real-world publications. Half of the publications (50%) had a prospective observational design. Eight studies (66.7%) assessed nusinersen, and three studies (25%) assessed onasemnogene abeparvovec with a duration of follow-up ranging from 6 months to 3 years to evaluate the motor and respiratory functions using different assessment tools, hospitalisation rates, and the tolerability and incidence of ADRs post-treatment. The three currently approved treatments for SMA type 1 provided good support and health outcomes in terms of motor function, respiratory outcomes, reduction of hospitalisations, and improvement of survival. Nevertheless, uncertainties regarding continued improvement after long-term illness and the generalizability of results are still unknown.