ReviewAnnals of translational medicine2019
An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond.
Review in Annals of translational medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
- What's new and what's next for gene therapy in Pompe disease?Expert opinion on biological therapy · 2022Pooled it
- Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease.Neurology. Genetics · 2026Article
- A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States.Journal of neuromuscular diseases · 2026Article
- Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.International journal of molecular sciences · 2026Review
- Longitudinal characterization of Gaac.1826dupA mice reveals the cardiac, myopathic and biochemical phenotypes of Pompe disease.Disease models & mechanisms · 2026Article
- Mapping glycogen accumulation and treatment effect in Pompe disease with saturation transfer MRI.Translational research : the journal of laboratory and clinical medicine · 2026Article
- Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease.EBioMedicine · 2026Article
- Novel transferrin receptor-mediated enzyme replacement therapy efficiently treats myogenic and neurogenic aspects of Pompe disease in mice.Molecular therapy. Methods & clinical development · 2025Article
- Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- A myotropic AAV vector combined with skeletal muscleMolecular therapy. Methods & clinical development · 2025Article
- Current clinical applications of AAV-mediated gene therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Skeletal muscle effects of antisense oligonucleotides targeting glycogen synthase 1 in a mouse model of Pompe disease.Clinical and translational medicine · 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
- Review
- Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.International journal of molecular sciences · 2025Review
- Expanding therapeutic options for Pompe disease: a new small molecule inhibitor of glycogen synthase 1 (GYS1) shows preclinical promise in Pompe disease.Annals of translational medicine · 2024Article
- Preclinical lentiviral hematopoietic stem cell gene therapy corrects Pompe disease-related muscle and neurological manifestations.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Neurological glycogen storage diseases and emerging therapeutics.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells.Molecular therapy. Nucleic acids · 2024Article
- The multifaceted roles of the brain glycogen.Journal of neurochemistry · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pompe disease (PD) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acid-alpha glucosidase (GAA). Pathogenic variants in the GAA gene lead to excessive accumulation of lysosomal glycogen primarily in the cardiac, skeletal, and smooth muscles. There is growing evidence of central nervous system (CNS) involvement in PD. Current research is focused on determining the true extent of CNS involvement, its effects on behavior and cognition, and effective therapies that would correct the disease in both muscle and the CNS. This review article summarizes the CNS findings in patients, highlights the importance of research on animal models, explores the probable success of gene therapy in reversing CNS pathologies as reported by some breakthrough preclinical studies, and emphasizes the need to follow patients and monitor for CNS involvement over time. Lessons learned from animal models (bench) and from the literature available to date on patients will guide future clinical trials in patients (bedside) with PD. Our preliminary studies in infantile PD show that some patients are susceptible to early and extensive CNS pathologies, as assessed by neuroimaging and developmental assessments. This article highlights the importance of neuroimaging which could serve as useful tools to diagnose and monitor certain CNS pathologies such as white matter hyperintense foci (WMF) in the brain. Longitudinal studies with large sample sizes are warranted at this time to better understand the emergence, progression and consequences of CNS involvement in patients with PD.
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Registered trials
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.