Risdiplam In the Treatment of Type I Spinal Muscular Atrophy – A Review

Abstract

The term “Spinal Muscular Atrophy (SMA)” refers to a group of genetic disorders, characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. It was results from a homozygous deletion or mutation in the survival of motor neuron (SMN1) gene and leads to muscle wasting, hypotonia and impaired mobility. A number of therapeutical strategies for SMA have been investigated in recent years, primarily focused on increasing the production of SMN, which can be achieved by modifying splicing of SMN2 or by replacement of the defective SMN1 gene via viral vector. Risdiplam (RG7916, RO7034067) is systemically distributed small molecule, designed as SMN2-directed RNA splicing modifier which promotes the expression of full-length SMN2 mRNA by the precise inclusion of exon 7 and enhances functional SMN protein levels. This article summarizes pharmacokinetics, pharmacodynamics, clinical trials and adverse events of risdiplam in the treatment of type 1 Spinal Muscular Atrophy (SMA – 1).