Amyotrophic Lateral Sclerosis (ALS)
Under individual expanded access Investigational New Drug application to the US Food and Drug Administration (FDA), a single patient (J.H.) with a FUSP525L mutation was treated with ION363 to silence FUS expression, reaching clinical efficacy. Original report here.
A single patient harboring mutant C9ORF72 with the G4C2 repeat expansion, the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), was treated with repeated dosing by intrathecal delivery of afinersen, leading to significant reductions in the levels of toxic polyGP peptides in CSF. Original report here.