ABSTRACT
Proximal spinal muscular atrophy (SMA) is an autosomal, recessive neuromuscular disease characterized by the degeneration of motor neurons from the parts of the central nervous system. There are some new small drug compounds that are developed and tested for SMA treatment using one or more of the earlier mentioned strategies. Currently, antisense oligonucleotides (ASOs) are the most promising therapeutic compound for SMA and are currently in Phase 3 clinical trial for patients with infantile onset and later onset of SMA. Promising preclinical therapies are also outlined and reviewed. Several clinic-ready compounds have been demonstrated to increase SMN levels and improve strength and life span in animal models of SMA. Identification of cellular pathways that can modulate the expression of survival motor neuron 2 (SMN2) and matching them with clinic-ready compounds to modulate the identified pathways are essential for repurposing drugs. Repurposed drugs provide an alternative approach to fast track treatments from bench to bedside in the most cost-effective way.
