ArticleMolecular therapy. Methods & clinical development2019
Intravenous Injection of an AAV-PHP.B Vector Encoding Human Acid α-Glucosidase Rescues Both Muscle and CNS Defects in Murine Pompe Disease.
Article in Molecular therapy. Methods & clinical development, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it.
- What's new and what's next for gene therapy in Pompe disease?Expert opinion on biological therapy · 2022Pooled it
- Novel promoters drive therapeutic transgene expression and evade transgene-specific immune responses in a mouse model of Pompe disease.Molecular genetics and metabolism · 2026Article
- Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease.EBioMedicine · 2026Article
- Liver-directed AAV gene therapy in mice corrects glycogen storage disease type IX γ2.Science advances · 2025Article
- Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe Disease.JIMD reports · 2025Article
- GAA replacement improves respiratory muscle, neural, and alveolar pathology in the pompe mouse.Respiratory physiology & neurobiology · 2025Article
- Management of Pompe disease alongside and beyond ERT: a narrative review.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2025Review
- Progressive liver disease and dysregulated glycogen metabolism in murine GSD IX γ2 models human disease.Molecular genetics and metabolism · 2024Article
- Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy.Molecular diagnosis & therapy · 2024Review
- Systemic gene therapy corrects the neurological phenotype in a mouse model of NGLY1 deficiency.JCI insight · 2024Article
- Neurological glycogen storage diseases and emerging therapeutics.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model.JCI insight · 2024Article
- Brain glycogen build-up measured by magnetic resonance spectroscopy in classic infantile Pompe disease.Brain communications · 2024Article
- A Comprehensive Update on Late-Onset Pompe Disease.Biomolecules · 2023Review
- AAV-mediated delivery of secreted acid α-glucosidase with enhanced uptake corrects neuromuscular pathology in Pompe mice.JCI insight · 2023Article
- Phase I study of liver depot gene therapy in late-onset Pompe disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- [Research progress of nervous system damage in Pompe disease].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- PAM-flexible dual base editor-mediated random mutagenesis and self-activation strategies to improve CRISPRa potency.Molecular therapy. Methods & clinical development · 2022Article
- Gene therapy in neuromuscular disorders.Arquivos de neuro-psiquiatria · 2022Review
- Transgene distribution and immune response after ultrasound delivery of rAAV9 and PHP.B to the brain in a mouse model of amyloidosis.Molecular therapy. Methods & clinical development · 2021Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pompe disease, a severe and often fatal neuromuscular disorder, is caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). The disease is characterized by the accumulation of excess glycogen in the heart, skeletal muscle, and CNS. Currently approved enzyme replacement therapy or experimental adeno-associated virus (AAV)-mediated gene therapy has little effect on CNS correction. Here we demonstrate that a newly developed AAV-PHP.B vector can robustly transduce both the CNS and skeletal muscles in GAA-knockout (GAAKO) mice. A single intravenous injection of an AAV-PHP.B vector expressing human GAA under the control of cytomegalovirus (CMV) enhancer-chicken β-actin (CB) promoter into 2-week-old GAAKO mice resulted in widespread GAA expression in the affected tissues. Glycogen contents were reduced to wild-type levels in the brain and heart, and they were significantly decreased in skeletal muscle by the AAV treatment. The histological assay showed no visible glycogen in any region of the brain and spinal cord of AAV-treated mice. In this study, we describe a set of behavioral tests that can detect early neurological deficits linked to extensive lysosomal glycogen accumulation in the CNS of untreated GAAKO mice. Furthermore, we demonstrate that the therapy can help prevent the development of these abnormalities.
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