ReviewAnnals of translational medicine2019
Challenges in treating Pompe disease: an industry perspective.
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 35 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
35 citing papers in PubMed, 70 citations in OpenAlex.
- Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial.Journal of neurology · 2025Trial
- 104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).Journal of neurology · 2024Trial
- Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).Journal of neurology · 2024Trial
- Pompe Disease: Pathogenesis, Molecular Mechanisms, Neurological Aspects, Diagnostics and Modern Therapeutic Approaches.International journal of molecular sciences · 2026Review
- Restoration of lysosomal membrane integrity in cell models of Pompe disease depends on fatty acid synthase and its product palmitic acid.Cellular & molecular biology letters · 2026Article
- Management of hypersensitivity in a patient with late-onset Pompe disease experiencing recurrent infusion-related reactions.Journal of neurology · 2025Article
- Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.International journal of molecular sciences · 2025Review
- A Real-World Data Analysis of Alglucosidase Alfa in the FDA Adverse Event Reporting System (FAERS) Database.Drugs in R&D · 2025Article
- Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials.Molecular genetics and metabolism reports · 2025Article
- Latest Advancements in Treatment Options for Infantile-Onset Pompe Disease: A Comprehensive Narrative Review.Clinical medicine insights. Pediatrics · 2025Review
- Site-Specific Glyco-Tagging of Native Proteins for the Development of Biologicals.Journal of the American Chemical Society · 2024Article
- Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation.Molecular genetics and metabolism reports · 2024Article
- Combined miRNA transcriptome and proteome analysis of extracellular vesicles in urine and blood from the Pompe mouse model.Annals of medicine · 2024Article
- Lysosomal enzyme binding to the cation-independent mannose 6-phosphate receptor is regulated allosterically by insulin-like growth factor 2.Scientific reports · 2024Article
- Neurological glycogen storage diseases and emerging therapeutics.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Failure of Autophagy in Pompe Disease.Biomolecules · 2024Review
- Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease.Frontiers in neurology · 2024Article
- Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.Journal of neuromuscular diseases · 2024Article
- Population pharmacokinetic modeling and dosing simulation of avalglucosidase alfa for selecting alternative dosing regimen in pediatric patients with late-onset pompe disease.Journal of pharmacokinetics and pharmacodynamics · 2023Article
- Bringing enzymes to the proximity party.RSC chemical biology · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pompe disease is a rare inherited metabolic disorder of defective lysosomal glycogen catabolism due to a deficiency in acid alpha-glucosidase (GAA). Alglucosidase alfa enzyme replacement therapy (ERT) using recombinant human GAA (rhGAA ERT) is the only approved treatment for Pompe disease. Alglucosidase alfa has provided irrefutable clinical benefits, but has not been an optimal treatment primarily due to poor drug targeting of ERT to skeletal muscles. Several critical factors contribute to this inefficiency. Some are inherent to the anatomy of the body that cannot be altered, while others may be addressed with better drug design and engineering. The knowledge gained from alglucosidase alfa ERT over the past 2 decades has allowed us to better understand the challenges that hinder its effectiveness. In this review, we detail the problems which must be overcome for improving drug targeting and clinical efficacy. These same issues may also impact therapeutic enzymes derived from gene therapies, and thus, have important implications for the development of next generation therapies for Pompe.
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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.