{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T13:08:53Z","timestamp":1781788133245,"version":"3.54.5"},"reference-count":52,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2019,9,12]],"date-time":"2019-09-12T00:00:00Z","timestamp":1568246400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["480390"],"award-info":[{"award-number":["480390"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Australian National Health and Medical Research Council","award":["APP1117510"],"award-info":[{"award-number":["APP1117510"]}]},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"publisher","award":["APP1122952"],"award-info":[{"award-number":["APP1122952"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"NHMRC","doi-asserted-by":"publisher","award":["APP1108311"],"award-info":[{"award-number":["APP1108311"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>McArdle disease is a disorder of carbohydrate metabolism that causes painful skeletal muscle cramps and skeletal muscle damage leading to transient myoglobinuria and increased risk of kidney failure. McArdle disease is caused by recessive mutations in the muscle glycogen phosphorylase (PYGM) gene leading to absence of PYGM enzyme in skeletal muscle and preventing access to energy from muscle glycogen stores. There is currently no cure for McArdle disease. Using a preclinical animal model, we aimed to identify a clinically translatable and relevant therapy for McArdle disease. We evaluated the safety and efficacy of recombinant adeno-associated virus serotype 8 (rAAV8) to treat a murine model of McArdle disease via delivery of a functional copy of the disease-causing gene, Pygm. Intraperitoneal injection of rAAV8-Pygm at post-natal day 1\u20133 resulted in Pygm expression at 8\u00a0weeks of age, accompanied by improved skeletal muscle architecture, reduced accumulation of glycogen and restoration of voluntary running wheel activity to wild-type levels. We did not observe any adverse reaction to the treatment at 8\u00a0weeks post-injection. Thus, we have investigated a highly promising gene therapy for McArdle disease with a clear path to the ovine large animal model endemic to Western Australia and subsequently to patients.<\/jats:p>","DOI":"10.1093\/hmg\/ddz214","type":"journal-article","created":{"date-parts":[[2019,9,6]],"date-time":"2019-09-06T07:37:15Z","timestamp":1567755435000},"page":"20-30","source":"Crossref","is-referenced-by-count":13,"title":["Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease"],"prefix":"10.1093","volume":"29","author":[{"given":"Elyshia L","family":"McNamara","sequence":"first","affiliation":[{"name":"Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia"},{"name":"Centre for Medical Research, University of Western Australia, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rhonda L","family":"Taylor","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia"},{"name":"Centre for Medical Research, University of Western Australia, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua S","family":"Clayton","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia"},{"name":"Centre for Medical Research, University of Western Australia, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayley","family":"Goullee","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia"},{"name":"Centre for Medical Research, University of Western Australia, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberley L","family":"Dilworth","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health, Vector and Genome Engineering Facility, Children\u2019s Medical Research Institute, The University of Sydney, Westmead, NSW 2145, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom\u00e0s","family":"Pin\u00f3s","sequence":"additional","affiliation":[{"name":"Neuromuscular and Mitochondrial Disorders Laboratory, Vall d\u2019Hebron Institut de Recerca, Universitat Autonoma de Barcelona, Barcelona 08035, Spain"},{"name":"Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid","family":"Brull","sequence":"additional","affiliation":[{"name":"Sorbonne Universit\u00e9, INSERM UMRS_974, Center of Research in Myology, Paris 75013, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian E","family":"Alexander","sequence":"additional","affiliation":[{"name":"Gene Therapy Research Unit, Faculty of Medicine and Health, Children's Medical Research Institute, The University of Sydney and Sydney Children's Hospitals Network, Westmead, NSW 2145, Australia"},{"name":"Discipline of Child and Adolescent Health, Faculty of Medicine and Health, Sydney Medical School, The University of Sydney, Westmead, NSW 2145, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leszek","family":"Lisowski","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health, Vector and Genome Engineering Facility, Children\u2019s Medical Research Institute, The University of Sydney, Westmead, NSW 2145, Australia"},{"name":"Translational Vectorology Group, Faculty of Medicine and Health, Children\u2019s Medical Research Institute, The University of Sydney, Sydney, NSW 2006, Australia"},{"name":"Military Institute of Hygiene and Epidemiology, The Biological Threats Identification and Countermeasure Centre, Pu\u0142awy 24-100, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianina","family":"Ravenscroft","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia"},{"name":"Centre for Medical Research, University of Western Australia, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel G","family":"Laing","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia"},{"name":"Centre for Medical Research, University of Western Australia, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristen J","family":"Nowak","sequence":"additional","affiliation":[{"name":"Harry Perkins Institute of Medical Research, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia"},{"name":"Faculty of Health and Medical Sciences, School of Biomedical Sciences, University of Western Australia, QEII Medical Centre, Nedlands, WA 6009, Australia"},{"name":"Public and Aboriginal Health Division, Western Australian Department of Health, Office of Population Health Genomics, East Perth, WA 6004, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2019,9,12]]},"reference":[{"key":"2020020508340933400_ref1","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1136\/jnnp-2011-301593","article-title":"Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry","volume":"83","author":"Lucia","year":"2012","journal-title":"J. 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