From Genes to Function: Clinical Experience with the Effectiveness and Safety of Risdiplam and Nusinersen in Spinal Muscular Atrophy.

OBJECTIVE: Spinal muscular atrophy (SMA) involves the survival motor neuron (SMN) 1 gene, leading to motor neuron degeneration. SMN2 is a homologous gene to SMN1, which can produce SMN protein at lower levels. The new gene-based drugs modify SMN2 pre-messenger RNA splicing, leading to production of functional SMN protein. MATERIALS & METHODS: This study aimed to evaluate the effectiveness and safety of Risdiplam and Nusinersen in patients with SMA types I-III. Hammersmith Functional Motor Scale-Expanded (HFMSE) was used for motor evaluation. RESULTS: Results revealed that changes were significant after six months (p< 0.001). Improvements were compared between the two drugs, age groups, and SMA disease types, and no significant differences were found. No severe side effects were experienced and only a few patients reported headaches, and backaches following Nusinersen. CONCLUSION: both Risdiplam and Nusinersen led to significant improvements in motor function; however, based on cost-effectiveness considerations, we recommend Risdiplam.