Spinal muscular atrophy in the disease-modifying therapy era: successes, limitations and future directions

Vollständiger Abstract

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Spinal Muscular Atrophy (SMA) is a rare and debilitating neurodegenerative disease characterized by the progressive loss of motor neurons in the spinal cord, leading to muscle weakness, respiratory failure, and premature mortality. The pathogenesis of SMA is highly complex and the investigation of downstream pathways and specific cellular mechanisms is still ongoing. In recent years, three FDA-approved disease-modifying therapies, nusinersen, risdiplam, and onasemnogene abeparvovec, have improved the quality of life for patients with SMA and have eased the management of associated symptoms. However, unmet needs remain as comorbidities become increasingly apparent in the era of disease-modifying therapies. Despite the remarkable progress achieved over the past decade, continued research is essential to further improve the quality of life, clinical outcomes, and standard of care for individuals living with SMA.