ArticleJCI insight2024
Synergism of dual AAV gene therapy and rapamycin rescues GSDIII phenotype in muscle and liver.
Article in JCI insight, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Gene therapy for liver diseases: methods, challenges and opportunities.Journal of nanobiotechnology · 2026Review
- Prospective gait analysis in patients from the French registry of glycogen storage disease type III: implications for clinical trials.Journal of neurology · 2026Article
- Interindividual variability in immune response to AAV ocular gene delivery across species impedes immunomonitoring.JCI insight · 2026Article
- Strategies for Evading Cellular Immunity Against Recombinant AAV Vectors in Gene Therapy.Current medical science · 2026Review
- Sirolimus for the treatment of steroid-refractory hepatotoxicity following AAV gene therapy in patients with Duchenne muscular dystrophy.Journal of neuromuscular diseases · 2026Article
- Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III.JHEP reports : innovation in hepatology · 2026Article
- Galectin-3: a novel biomarker of glycogen storage disease type III.Cell death discovery · 2025Article
- Review
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26 authors.
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Abstract
Glycogen storage disease type III (GSDIII) is a rare metabolic disorder due to glycogen debranching enzyme (GDE) deficiency. Reduced GDE activity leads to pathological glycogen accumulation responsible for impaired hepatic metabolism and muscle weakness. To date, there is no curative treatment for GSDIII. We previously reported that 2 distinct dual AAV vectors encoding for GDE were needed to correct liver and muscle in a GSDIII mouse model. Here, we evaluated the efficacy of rapamycin in combination with AAV gene therapy. Simultaneous treatment with rapamycin and a potentially novel dual AAV vector expressing GDE in the liver and muscle resulted in a synergic effect demonstrated at biochemical and functional levels. Transcriptomic analysis confirmed synergy and suggested a putative mechanism based on the correction of lysosomal impairment. In GSDIII mice livers, dual AAV gene therapy combined with rapamycin reduced the effect of the immune response to AAV observed in this disease model. These data provide proof of concept of an approach exploiting the combination of gene therapy and rapamycin to improve efficacy and safety and to support clinical translation.
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