{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Magen I"],"funding":["National Institute of Neurological Disorders and Stroke","Target ALS","NICHD NIH HHS","Cure SMA","Legacy Heritage Fund","Amyotrophic Lateral Sclerosis Association","Biogen","European Research Council","E-Rare","Israel Science Foundation","Fondation Thierry Latran","NINDS NIH HHS","Teva Pharmaceutical Industries","National Institute of Child Health and Human Development"],"pagination":["2420-2430"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9544362"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["29(8)"],"pubmed_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"],"journal":["European journal of neurology"],"pubmed_title":["Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients."],"pmcid":["PMC9544362"],"funding_grant_id":["R01 HD054599","617351","R01HD054599","R21 NS108015","135/16","117941","118945","3497/21","424/22","425/22","R21NS108015"],"pubmed_authors":["Alves CRR","Magen I","Sagi L","Swoboda KJ","Bruckheimer E","Tokatly Latzer I","Fattal-Valevski A","Nevo Y","Aharoni S","Yacovzada NS","Katz J","Hornstein E"],"additional_accession":[]},"is_claimable":false,"name":"Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients.","description":"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","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Aug","modification":"2026-04-12T15:37:15.44Z","creation":"2025-04-06T00:14:01.903Z"},"accession":"S-EPMC9544362","cross_references":{"pubmed":["35510740"],"doi":["10.1111/ene.15382"]}}