SMA – THERAPY: P.273 Jewelfish: Safety and pharmacodynamic data in non-naïve patients with spinal muscular atrophy receiving treatment with risdiplam (RG7916)

Abstract

Spinal muscular atrophy (SMA) is a severe, progressive neuromuscular disease caused by reduced levels of survival of motor neuron (SMN) protein due to deletions and/or mutations of the SMN1 gene. A second SMN gene, SMN2, produces only low levels of functional SMN protein. Risdiplam (RG7916) is a centrally and peripherally distributed oral SMN2 pre-mRNA splicing modifier that increases the levels of functional SMN protein. Jewelfish (NCT03032172) is a multicenter, open-label study of daily oral risdiplam in non-naïve patients with SMA, aged 6 months to 60 years.