The end of the beginning: the journey to molecular therapies for spinal muscular atrophy

A span of 125 years stretches from the first descriptions of spinal muscular atrophy (SMA) in 18911 and 18932 through the identification of deletions in SMN1 as the most common pathogenic mutation in 19953 to the first officially approved therapy for this devastating disease in 2016. This disease-modifying treatment is nusinersen, an antisense oligonucleotide compound that alters splicing of SMN2 so that it mimics healthy SMN1, and improves the clinical status of patients with early onset SMA (type 1)4,5 and later onset SMA (types 2 and 3)6,7, with affirmation from a clinical guideline8.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Editorial Source Type: research