ISS-N1 makes the First FDA-approved Drug for Spinal Muscular Atrophy.

ABSTRACT: Spinal muscular atrophy (SMA) is one of the leading genetic diseases of children and infants. SMA is caused by deletions or mutations of Survival Motor Neuron 1 (SMN1) gene. SMN2, a nearly identical copy of SMN1, cannot compensate for the loss of SMN1 due to predominant skipping of exon 7. While various regulatory elements that modulate SMN2 exon 7 splicing have been proposed, intronic splicing silencer N1 (ISS-N1) has emerged as the most promising target thus far for antisense oligonucleotide-mediated splicing correction in SMA. Upon procuring exclusive license from the University of Massachussets Medical School in 2010, Ionis Pharmaceuticals (formerly ISIS Pharamaceuticals) began clinical development of Spinraza^™ (synonyms: Nusinersen,

SUBMITTER: Ottesen EW 

PROVIDER: S-EPMC5382937 | biostudies-literature | 2017 Jan

REPOSITORIES: biostudies-literature