| Recruiting | China Post-approval Commitment (PAC) Study of Avalglucosidase Alfa in Participants With IOPD NCT06666413 | Genzyme, a Sanofi Company | Phase 4 |
| Not Yet Recruiting | Treatment Frequency Reduction in Pompe Disease NCT06575829 | Erasmus Medical Center | Phase 4 |
| Unknown | Nutritional Therapy in Late-onset Pompe Disease NCT06130228 | McMaster University | Phase 2 |
| Unknown | Inspiratory Muscle Training (IMT) in Adult People With Pompe Disease NCT05951790 | Fondazione Don Carlo Gnocchi Onlus | N/A |
| Active Not Recruiting | Avalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase) NCT05164055 | Genzyme, a Sanofi Company | Phase 4 |
| Active Not Recruiting | Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alf NCT04910776 | Sanofi | Phase 3 |
| Not Yet Recruiting | Higher Dose of Alglucosidase Alpha for Pompe Disease NCT05017402 | Taipei Veterans General Hospital, Taiwan | — |
| Active Not Recruiting | A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Mon NCT04848779 | Sanofi | — |
| Active Not Recruiting | A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE) NCT04093349 | Spark Therapeutics, Inc. | Phase 1 / Phase 2 |
| Completed | Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidas NCT03687333 | Genzyme, a Sanofi Company | Phase 4 |
| Withdrawn | Biomarker for Glycogen Storage Diseases (BioGlycogen) NCT02385162 | CENTOGENE GmbH Rostock | — |
| Completed | Diet and Exercise in Pompe Disease NCT02363153 | University of Florida | N/A |
| Completed | Respiratory Muscle Training in L-Onset Pompe Disease (LOPD) NCT02801539 | Duke University | N/A |
| Unknown | Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy NCT02635269 | Rigshospitalet, Denmark | N/A |
| Unknown | Effect of Motor Development, Motor Function and Electrophysiologic Findings of IOPD Under ERT NCT02761421 | Taipei Veterans General Hospital, Taiwan | — |
| Withdrawn | High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease NCT01656590 | Columbia University | Phase 2 |
| Completed | An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cr NCT00701129 | Genzyme, a Sanofi Company | Phase 4 |
| Completed | A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease NCT00515398 | Amicus Therapeutics | — |
| Completed | Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01 NCT00125879 | Genzyme, a Sanofi Company | Phase 2 / Phase 3 |
| Completed | Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Late-onset Pompe Disease NCT00074932 | Genzyme, a Sanofi Company | N/A |
| Recruiting | Pompe Disease Registry Protocol NCT00231400 | Genzyme, a Sanofi Company | — |
| Completed | A Prospective, Observational Study in Patients With Late-Onset Pompe Disease NCT00077662 | Genzyme, a Sanofi Company | — |
| Approved For Marketing | Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-onset Pompe Disease NCT00074919 | Genzyme, a Sanofi Company | — |
| Completed | Extension Study of Long-term Safety and Efficacy of Myozyme in Patients With Pompe Disease Who Were Previously NCT00763932 | Genzyme, a Sanofi Company | Phase 2 |
| Completed | A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease NCT00059280 | Genzyme, a Sanofi Company | Phase 2 / Phase 3 |
| Completed | rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease) NCT00053573 | Genzyme, a Sanofi Company | Phase 1 / Phase 2 |
| Completed | A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II NCT00051935 | Genzyme, a Sanofi Company | Phase 2 |
| Completed | Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe NCT00025896 | Genzyme, a Sanofi Company | Phase 2 |
| Completed | Genetic and Family Studies of Inherited Muscle Diseases NCT00001331 | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) | — |