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Pompe disease

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Search Period All yearsLast 12 monthsLast 5 years Topic All topicsGeneralNutrition and dietAlternative treatment methods Type of research Any type of researchHighest evidence only (55)Meta-analysis (4)Treatment guideline (3)Systematic review (20)Phase 3 study (18)Randomized trial (10)Clinical trial (201)Review article (174)Early study (phase 1 or 2) (16)Case report (118)Laboratory or animal research (44)Commentary or editorial (34) Only studies currently recruiting participants (29)

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Publications and studies (1195)

• Identification of a Pathogenic Mutation for Glycogen Storage Disease Type II (Pompe Disease) in Japanese Quails (Coturnix japonica). (2025/08/19) ♡
• Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Efficacy and safety of avalglucosidase alfa in patients with late-onset Pompe disease after 145 weeks of treatment during the COMET trial. (2025/08/16) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Engineering Targeted Gene Delivery Systems for Primary Hereditary Skeletal Myopathies: Current Strategies and Future Perspectives. (2025/08/16) ♡
• Effect of High Altitude on Small Pulmonary Vein and Artery Volume in the COPDGene Cohort: Towards Better Understanding of Lung Physiology and Pulmonary Disease. (2025/08/15) ♡
• Extensive digital health technology assessment detects subtle motor impairment in mild and asymptomatic Pompe disease. (2025/08/14) ♡
• Efficacy of Switching Therapy From Alglucosidase Alfa to Avalglucosidase Alfa on Respiratory Function in Participants With Late-Onset Pompe Disease: A Post Hoc Analysis From the COMET Trial. (2025/08/12) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Latest Advancements in Treatment Options for Infantile-Onset Pompe Disease: A Comprehensive Narrative Review. (2025/08/11) ♡
• Molecular Screening of Feline Glycogen Storage Disease Type II (Pompe Disease): Allele Frequencies of the GAA:c.1799G>A and c.55G>A Variants. (2025/08/07) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Novel transferrin receptor-mediated enzyme replacement therapy efficiently treats myogenic and neurogenic aspects of Pompe disease in mice. (2025/08/07) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Atrioventricular Block in a Pompe Disease Patient Receiving Enzyme Replacement Therapy. (2025/08/06) ♡
• Prevalence of lysosomal storage disease (LSD) in Malaysia. (2025/08/01) ♡
• Correction: Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry. (2025/07/31) ♡
• Determination of the Epitopes of Alpha-Glucosidase Anti-Drug Antibodies in Pompe Disease Patient Plasma Samples. (2025/07/28) ♡
• Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy. (2025/07/24) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Results of orthodontic procedure in a patient with classic infantile Pompe disease. (2025/07/15) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa. (2025/07/11) ♡
• Pompe Disease: Current State and Future Treatments. (2025/07/02) ♡
• Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia. (2025/07/01) ♡
• Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. AAV9-Mediated Gene Therapy for Infantile-Onset Pompe's Disease. (2025/06/26) ♡
• Commentary or editorialiAn expert's opinion or commentary, not new research. Gene Therapy for Infantile-Onset Pompe's Disease. (2025/06/26) ♡
• Transcriptional profiling reveals glucose-dependent regulation of COL13A1 mRNA in Pompe patients: Prospect for a novel disease mechanism. (2025/06/26) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction. (2025/06/23) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Advances in Disease-Modifying Therapeutics for Chronic Neuromuscular Disorders. (2025/06/01) ♡
• An Assessment of Dietary Intake, Feeding Practices, Growth, and Swallowing Function in Young Children with Late-Onset Pompe Disease: A Framework for Developing Nutrition Guidelines. (2025/06/01) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Adult Pompe disease: Analysis of 13 patients. (2025/05/23) ♡
• Correction of Disease Phenotype in Pompe Disease Knockout Mice Following Cationic Lipid-GL-67-Mediated Gene Therapy. (2025/05/09) ♡
• The use of protein supplements in children with cerebral palsy: A scoping literature review. (2025/05/08) ♡
• A myotropic AAV vector combined with skeletal muscle cis-regulatory elements improve glycogen clearance in mouse models of Pompe disease. (2025/04/09) ♡
• Simultaneous monitoring of glycogen, creatine, and phosphocreatine in type II glycogen storage disease using saturation transfer MRI. (2025/04/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Newborn screening and rapid genomic diagnosis of neuromuscular diseases. (2025/03/01) ♡
• Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa). (2025/03/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Management of Pompe disease alongside and beyond ERT: a narrative review. (2025/03/01) ♡
• A Supramolecular Gel-Based Protocol for the Detection of α-Glycosidases for Screening Potential Drugs. (2025/02/17) ♡
• Genome-first determination of the prevalence and penetrance of eight germline myeloid malignancy predisposition genes: a study of two population-based cohorts. (2025/02/01) ♡
• Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Chaperone therapy: Stabilization and enhancement of endogenous and exogenous lysosomal enzymes. (2025/02/01) ♡
• Quantitative Systems Pharmacology-Based Digital Twins Approach Supplements Clinical Trial Data for Enzyme Replacement Therapies in Pompe Disease. (2025/02/01) ♡
• Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project. (2025/02/01) ♡
• Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. A novel CD71 Centyrin:Gys1 siRNA conjugate reduces glycogen synthesis and glycogen levels in a mouse model of Pompe disease. (2025/01/08) ♡
• Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report. (2025/01/07) ♡
• Corrigendum: Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease. (2025/01/03) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. High-risk screening for late-onset Pompe disease in China: An expanded multicenter study. (2025/01/01) ♡
• Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG). (2025/01/01) ♡
• Cinemeducation improves early clinical exposure to inborn errors of metabolism. (2025/01/01) ♡
• Systematic reviewiAll research on one question is searched according to fixed rules and compared side by side, so that no studies with poor outcomes are missed. Maternal health and obstetric complications of genetic neuromuscular disorders in pregnancy: A systematic review. (2025/01/01) ♡
• Efficacy of avalglucosidase alfa in infantile-onset Pompe disease with high anti-alglucosidase alfa antibody titers. (2025/01/01) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Long-Term Development of Muscular Dystrophy Outcome Assessments (2025-11-18) ♡
• Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. Avalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase) (2025-10-31) ♡
• Phase 3 studyiResearch in a large group of patients, the final step before a treatment can be approved. What comes out here carries significant weight. ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPD (2025-10-27) ♡
• Early-stage study (phase 1 or 2)iEarly research in a small group, primarily aimed at safety and dosage. Whether it actually works still needs to be determined afterward. First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administered With Oral AT2221 (2025-10-23) ♡
• Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. High Dose Inspiratory Muscle Training in LOPD (2025-10-01) ♡

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