Nusinersen in the treatment of 5q spinal muscular atrophy (Sponsor: Biogen GmbH, München)

Abstract

Due to a mutation in the SMN1 gene on chromosome 5, in 5q-SMA there is a deficiency in the survival of motor neuron protein (SMA) which is essential for motor neurons. This leads to a degeneration of the 2nd motor neuron and progressive weakness and atrophy of the affected muscles. The targeted splicing modulator nusinersen (Spinraza^®), an antisense oligonucleotide that binds to the SMN2-RNA, leads to increased production of functional SMN protein. This stabilizes the disease and improves muscle function.

Keywords

Nusinersen - muscular - arthophy - 5q-SMA - SMN

Publication History

Article published online:
03 February 2021