Peer-reviewed veterinary case report
Long-term problems in dogs with glycogen storage disease after gene
By Brooks, Elizabeth D et al.·Published in Journal of inherited metabolic disease·2018·Duke University Medical Center (DUMC), United States·View original on PubMed →
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Original publication title: Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy.
- Species:
- dog
Plain-English summary
A group of dogs with glycogen storage disease type Ia (GSD Ia) were treated with gene replacement therapy to help manage their condition. Unfortunately, even with this treatment, many of the dogs developed serious long-term complications, including liver tumors and kidney failure. The dogs were euthanized between 4 to 8 years of age due to these issues. This study highlights the need for better treatments to prevent these complications in dogs with GSD Ia.
People also search for: dog glycogen storage disease treatment · GSD Ia symptoms in dogs · liver tumors in dogs · kidney failure in dogs · gene therapy for dogs
Abstract
BACKGROUND: Glycogen 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. METHODS: Five 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. RESULTS: Four 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. CONCLUSIONS: Here, 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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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/30043186/