{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Shababi M"],"funding":["National Institute of Neurological Disorders and Stroke","NINDS NIH HHS","National Institutes of Health"],"pagination":["348-360"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6127875"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["10"],"pubmed_abstract":["Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an infantile autosomal recessive disease caused by the loss of the ubiquitously expressed <i>IGHMBP2</i> gene. SMARD1 causes degeneration of alpha-motor neurons, resulting in distal muscle weakness, diaphragm paralysis, and respiratory malfunction. We have reported that delivery of a low dose of AAV9-<i>IGHMBP2</i> to the CNS results in a significant rescue of the SMARD1 mouse model (<i>nmd</i>). To examine how a delivery route can impact efficacy, a direct comparison of intravenous (IV) and intracerebroventricular (ICV) delivery of AAV9-<i>IGHMBP2</i> was performed. Using a low-dose, both IV and ICV delivery routes led to a significant extension in survival and increased body weight. Conversely, only ICV-treated animals "],"journal":["Molecular therapy. Methods & clinical development"],"pubmed_title":["A Direct Comparison of IV and ICV Delivery Methods for Gene Replacement Therapy in a Mouse Model of SMARD1."],"pmcid":["PMC6127875"],"funding_grant_id":["R21 NS093175","R21NS093175"],"pubmed_authors":["DeMarco V","Lorson CL","Kaifer KA","Shababi M","Villalon E"],"additional_accession":[]},"is_claimable":false,"name":"A Direct Comparison of IV and ICV Delivery Methods for Gene Replacement Therapy in a Mouse Model of SMARD1.","description":"Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an infantile autosomal recessive disease caused by the loss of the ubiquitously expressed <i>IGHMBP2</i> gene. SMARD1 causes degeneration of alpha-motor neurons, resulting in distal muscle weakness, diaphragm paralysis, and respiratory malfunction. We have reported that delivery of a low dose of AAV9-<i>IGHMBP2</i> to the CNS results in a significant rescue of the SMARD1 mouse model (<i>nmd</i>). To examine how a delivery route can impact efficacy, a direct comparison of intravenous (IV) and intracerebroventricular (ICV) delivery of AAV9-<i>IGHMBP2</i> was performed. Using a low-dose, both IV and ICV delivery routes led to a significant extension in survival and increased body weight. Conversely, only ICV-treated animals ","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Sep","modification":"2026-05-05T20:37:23.644Z","creation":"2019-03-26T23:55:28Z"},"accession":"S-EPMC6127875","cross_references":{"pubmed":["30202772"],"doi":["10.1016/j.omtm.2018.08.005"]}}