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This literature review summarizes the development of gene therapy for the GSDs. The abnormal accumulation of glycogen and deficiency of glucose production in GSDs lead to unique symptoms based upon the enzyme step and tissues involved, such as liver and kidney involvement associated with severe hypoglycemia during fasting and the risk of long\u2010term complications including hepatic adenoma\/carcinoma and end stage kidney disease in GSD Ia from glucose\u20106\u2010phosphatase deficiency, and cardiac\/skeletal\/smooth muscle involvement associated with myopathy +\/\u2212 cardiomyopathy and the risk for cardiorespiratory failure in Pompe disease. These symptoms are present to a variable degree in animal models for the GSDs, which have been utilized to evaluate new therapies including gene therapy and genome editing. Gene therapy for Pompe disease and GSD Ia has progressed to Phase I and Phase III clinical trials, respectively, and are evaluating the safety and bioactivity of adeno\u2010associated virus vectors. Clinical research to understand the natural history and progression of the GSDs provides invaluable outcome measures that serve as endpoints to evaluate benefits in clinical trials. While promising, gene therapy and genome editing face challenges with regard to clinical implementation, including immune responses and toxicities that have been revealed during clinical trials of gene therapy that are underway. Gene therapy for the glycogen storage diseases is under development, addressing an unmet need for specific, stable therapy for these conditions.<\/jats:p>","DOI":"10.1002\/jimd.12654","type":"journal-article","created":{"date-parts":[[2023,7,8]],"date-time":"2023-07-08T12:18:47Z","timestamp":1688818727000},"page":"93-118","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Gene therapy for glycogen storage diseases"],"prefix":"10.1002","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4513-2464","authenticated-orcid":false,"given":"Dwight D.","family":"Koeberl","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical School  Durham North Carolina USA"},{"name":"Department of Molecular Genetics and Microbiology Duke University Medical Center  Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca 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