Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients.

ABSTRACT:

Background and purpose

The antisense oligonucleotide nusinersen (Spinraza) regulates splicing of the survival motor neuron 2 (SMN2) messenger RNA to increase SMN protein expression. Nusinersen has improved ventilator-free survival and motor function outcomes in infantile onset forms of spinal muscular atrophy (SMA), treated early in the course of the disease. However, the response in later onset forms of SMA is highly variable and dependent on symptom severity and disease duration at treatment initiation. Therefore, we aimed to identify novel noninvasive biomarkers that could predict the response to nusinersen in type II and III SMA patients.

Methods

Thirty-four SMA patients were included. We applied next generation sequencing to identify microRNAs in the cerebrospinal fluid

SUBMITTER: Magen I 

PROVIDER: S-EPMC9544362 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature