← All diseases
Metabolism and endocrine system
Pompe disease
Do you want to receive a message when there is new research on Pompe disease? This is possible with an account. Create a free account or log in.
Automatically tracked from PubMed and ClinicalTrials.gov, newest on top. Nothing ever disappears here: what you keep in your favorites remains findable. · RSS feed of this disease · only the strongest evidence
Read in plain language what each study is about? With Premium, above every publication you'll find one sentence explaining what was studied — and you'll receive notification as soon as new research on Pompe Disease is available. View what Premium costs.
Publications and studies (1195)
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Developing a Management Approach for Patients With "Late-Onset" Pompe Disease (2025-09-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Expanded Access for ATB200/AT2221 for the Treatment of Pompe Disease (2025-09-15) ♡
- 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. A Study Comparing ATB200/AT2221 With Alglucosidase Alfa/Placebo in Adult Subjects With Late-onset Pompe Disease (2025-09-11) ♡
- 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. Study to Evaluate the Safety of AT2220 (Duvoglustat) in Pompe Disease (2025-09-11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Expanded Access for ATB200/AT2221 for the Treatment of IOPD (2025-09-10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular Disorders (2025-09-10) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive Magnetic Resonance Exploratory Pilot Study. (2025-08-26) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Gait Analysis Parameter and Upper Limb Evaluation in Adult Patients With Neurological or Metabolic Pathology (2025-08-22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Baby Detect : Genomic Newborn Screening (2025-08-12) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Carbon-13 Magnetic Resonance Spectroscopy in Glycogen Storage Diseases (2025-08-11) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. The Use of Assistive Gait Devices Can Reduce the Risk of Falls in Patients With Neuromuscular Diseases Following a Training Period. (2025-07-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. STRIDE Study - A Study in Subjects With LOPD Who Are Currently Being Treated With ERT (2025-07-08) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of the Safety and Efficacy of Late-onset Pompe Disease Gene Therapy Drug (2025-07-03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Evaluation of the Safety and Efficacy of Infantile-onset Pompe Disease Gene Therapy Drug (2025-07-03) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Drug-drug Interaction Study (2025-06-26) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. A Study to Assess the Safety and Efficacy of ASP1941 in Combination With α-glucosidase Inhibitor in Type 2 Diabetic Patients (2025-05-30) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Comparing Efficacy of 8-Week and 12-Week Faricimab Initial Follow-Up Treatment Intervals (2025-03-13) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. MSOT in Pompe Disease (2025-03-12) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases (2025-02-18) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Study to Evaluate Efficacy and Safety in Chinese Patients With Late Onset Pompe Disease With Alglucosidase Alfa Treatmen (2025-02-10) ♡
- Parent Reports of Developmental Service Utilization After Newborn Screening. (2024/12/31) ♡
- Sensory neuropathy in patients with Pompe disease: a case series in Iran. (2024/12/27) ♡
- Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials. (2024/12/27) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Expanding therapeutic options for Pompe disease: a new small molecule inhibitor of glycogen synthase 1 (GYS1) shows preclinical promise in Pompe disease. (2024/12/24) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Late onset of Pompe's disease: a rare cause of respiratory failure. (2024/12/22) ♡
- [Importance of early treatment and quantitative evaluation of enzyme replacement therapy for Pompe disease: alglucosidase alfa post-marketing surveillance additional analysis]. (2024/12/21) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Global birth prevalence of Pompe disease: A systematic review and meta-analysis. (2024/12/17) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study. (2024/12/17) ♡
- Health care costs of home care enzyme replacement therapy for patients with lysosomal storage diseases in Germany. (2024/12/16) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Neonatal systemic gene therapy restores cardiorespiratory function in a rat model of Pompe disease. (2024/12/16) ♡
- 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. Unveiling the Future of Cardiac Care: A Review of Gene Therapy in Cardiomyopathies. (2024/12/06) ♡
- Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression. (2024/12/03) ♡
- Improving outcome measures in late onset Pompe disease: Modified Rasch-Built Pompe-Specific Activity scale. (2024/12/01) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. First-in-Human Evaluation of Safety, Pharmacokinetics and Muscle Glycogen Lowering of a Novel Glycogen Synthase 1 Inhibitor for the Treatment of Pompe Disease. (2024/12/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Combined miRNA transcriptome and proteome analysis of extracellular vesicles in urine and blood from the Pompe mouse model. (2024/12/01) ♡
- Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials. (2024/12/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Impact of bariatric surgery on clinical outcome in LOPD. (2024/12/01) ♡
- Detection of gene variants associated with recessive limb-girdle muscular weakness and Pompe disease in a global cohort of patients through the application of next-generation sequencing analysis. (2024/11/29) ♡
- 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. Expert opinion on clinical presentation, diagnosis, and treatment of infantile-onset Pompe disease: a Delphi study in Türkiye. (2024/11/20) ♡
- 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. Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease. (2024/11/13) ♡
- Navigating Pompe Disease Assessment: A Comprehensive Scoping Review. (2024/11/13) ♡
- Analyzing immune cell infiltrates in skeletal muscle of infantile-onset Pompe disease using bioinformatics and machine learning. (2024/11/11) ♡
- Preclinical lentiviral hematopoietic stem cell gene therapy corrects Pompe disease-related muscle and neurological manifestations. (2024/11/06) ♡
- The PompeQoL questionnaire: Development and validation of a new measure for children and adolescents with Pompe disease. (2024/11/01) ♡
- 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. Advances in Pompe Disease Treatment: From Enzyme Replacement to Gene Therapy. (2024/11/01) ♡
- Long-term observation of patients with advanced late-onset Pompe disease undergoing enzyme replacement therapy: A 15-year observation in a single center. (2024/11/01) ♡
- The lived experience of mothers caring for school-age children with Pompe disease: A qualitative study. (2024/11/01) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Pompe disease, a new approach to clearing out the trash. (2024/11/01) ♡
- 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. Pompe disease: Unmet needs and emerging therapies. (2024/11/01) ♡
- 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. The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II). (2024/11/01) ♡
codex.care does not provide medical advice. Always discuss symptoms, medication, and treatment choices with your own healthcare provider.