Nusinersen (Spinraza®): A Comprehensive Monograph

1. Nusinersen (Spinraza®): An Overview

1.1. Overview and Therapeutic Significance for Spinal Muscular Atrophy

Nusinersen, marketed under the brand name Spinraza®, is a significant therapeutic agent developed for the treatment of spinal muscular atrophy (SMA).[1] SMA is a rare, autosomal recessive neuromuscular disorder characterized by the progressive degeneration of alpha motor neurons in the spinal cord, leading to muscle weakness, atrophy, and, in its most severe forms, premature death.[3] The underlying cause of SMA is a deficiency of the Survival Motor Neuron (SMN) protein due to mutations or deletions in the SMN1 gene.[3]

The approval of Nusinersen by the U.S. Food and Drug Administration (FDA) in December 2016 marked a pivotal moment in the management of SMA, as it was the first therapy specifically targeting the molecular basis of the disease to receive such approval.[2] This development represented a paradigm shift, moving beyond purely supportive care to a disease-modifying intervention capable of altering the natural history of SMA. For many patients and families affected by this devastating condition, Nusinersen brought forth new hope by offering the potential to improve motor function, enhance survival, and positively impact quality of life.[2] Prior to its availability, the prognosis for individuals with severe SMA was grim, with management focused on palliative measures and respiratory support.[2]