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Preliminary insights into RNA in CSF of SMA patients after Nusinersen “loading dose”

ABSTRACT: Antisense oligonucleotide (ASO) nusinersen (Spinraza®) modulates the pre–mRNA splicing of the SMN2 gene, allowing rebalance of biologically active SMN. It is administered intrathecally via lumbar puncture after removing an equal amount of cerebrospinal fluid (CSF). Its effect was proven beneficial and approved since 2017 for SMA treatment. Since the direct effect of nusinersen on RNA metabolism, the aim of this project was to evaluate cell-free RNA (cfRNA) in CSF of SMA patients under ASOs treatment for biomarker discovery.

ORGANISM(S): Homo sapiens

PROVIDER: GSE221900 | GEO | 2023/07/03

REPOSITORIES: GEO

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Type I PRMT inhibitor MS023 promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue the phenotype of SMA mice

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Preliminary insights into RNA in CSF of SMA patients after Nusinersen “loading dose”

Project description:Preliminary insights into RNA in CSF of SMA patients after Nusinersen “loading dose”

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Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy

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Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy

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2020-01-07 | PXD016757 | Pride

Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy

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2019-12-18 | PXD015117 | Pride

Cell-mediated cytotoxicity surrounding the brain in spinal muscular atrophy

Project description:We here longitudinally investigated how spinal muscular atrophy (SMA) and nusinersen shaped local immune responses in the cerebrospinal fluid (CSF).

2024-04-20 | PXD051600 | Pride

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