ArticleJournal of inherited metabolic disease2018
Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy.
Article in Journal of inherited metabolic disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 29 citations in OpenAlex.
- Untargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers.Journal of inherited metabolic disease · 2026Article
- Article
- Recent developments in translational imaging of in vivo gene therapy outcomes.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Gene therapy for glycogen storage diseases.Journal of inherited metabolic disease · 2024Review
- Efficient and reproducible generation of human induced pluripotent stem cell-derived expandable liver organoids for disease modeling.Scientific reports · 2023Article
- Inherited Metabolic Diseases from Past to Present: A Bibliometric Analysis (1968-2023).Children (Basel, Switzerland) · 2023Article
- Genome editing usingMolecular therapy. Methods & clinical development · 2023Article
- Gene therapy and genome editing for type I glycogen storage diseases.Frontiers in molecular medicine · 2023Review
- Glycogen storage disease type I: Genetic etiology, clinical manifestations, and conventional and gene therapies.Pediatric discovery · 2023Article
- Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?Molecular genetics and metabolism reports · 2022Article
- Modeling Phenotypic Heterogeneity of Glycogen Storage Disease Type 1a Liver Disease in Mice by Somatic CRISPR/CRISPR-associated protein 9-Mediated Gene Editing.Hepatology (Baltimore, Md.) · 2021Article
- Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models.International journal of molecular sciences · 2020Review
- Exploiting epigenetics for the treatment of inborn errors of metabolism.Journal of inherited metabolic disease · 2020Review
- Pathogenesis of Hepatic Tumors following Gene Therapy in Murine and Canine Models of Glycogen Storage Disease.Molecular therapy. Methods & clinical development · 2019Article
- Gene therapy for glycogen storage diseases.Human molecular genetics · 2019Review
- Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia.Human molecular genetics · 2019Article
- Letter to the Editors: Concerning "Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia" by Lee et al.Journal of inherited metabolic disease · 2018Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundGlycogen storage disease type Ia (GSD Ia) in dogs closely resembles human GSD Ia. Untreated patients with GSD Ia develop complications associated with glucose-6-phosphatase (G6Pase) deficiency. Survival of human patients on intensive nutritional management has improved; however, long-term complications persist including renal failure, nephrolithiasis, hepatocellular adenomas (HCA), and a high risk for hepatocellular carcinoma (HCC). Affected dogs fail to thrive with dietary therapy alone. Treatment with gene replacement therapy using adeno-associated viral vectors (AAV) expressing G6Pase has greatly prolonged life and prevented hypoglycemia in affected dogs. However, long-term complications have not been described to date.
methodsFive GSD Ia-affected dogs treated with AAV-G6Pase were evaluated. Dogs were euthanized due to reaching humane endpoints related to liver and/or kidney involvement, at 4 to 8 years of life. Necropsies were performed and tissues were analyzed.
resultsFour dogs had liver tumors consistent with HCA and HCC. Three dogs developed renal failure, but all dogs exhibited progressive kidney disease histologically. Urolithiasis was detected in two dogs; uroliths were composed of calcium oxalate and calcium phosphate. One affected and one carrier dog had polycystic ovarian disease. Bone mineral density was not significantly affected.
conclusionsHere, we show that the canine GSD Ia model demonstrates similar long-term complications as GSD Ia patients in spite of gene replacement therapy. Further development of gene therapy is needed to develop a more effective treatment to prevent long-term complications of GSD Ia.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.