| Recruiting | Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disea NCT07123155 | Shionogi | Phase 2 |
| Enrolling By Invitation | Development and Validation of the FBIndex to Determine the Risk of Falls for Patients With Neuromuscular Disor NCT06605612 | LMU Klinikum | — |
| Recruiting | FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases NCT06539169 | xCures | — |
| Unknown | Nutritional Therapy in Late-onset Pompe Disease NCT06130228 | McMaster University | Phase 2 |
| Recruiting | A Global Prospective Observational Registry of Patients With Pompe Disease NCT06121011 | Amicus Therapeutics | — |
| Active Not Recruiting | Novel Metabolic Muscular Biomarkers in Pompe Disease - a Non-invasive Magnetic Resonance Exploratory Pilot Stu NCT05943678 | Medical University of Vienna | — |
| Unknown | ERT in Pompe Disease: Elucidation of Molecular Structures Contributing to Enzyme Uptake and Immunoreactivity NCT05448131 | Centre for Analytical Biochemistry and Biomedical Mass Spectrometry | — |
| Recruiting | Avalglucosidase Alfa Pregnancy Study NCT05734521 | Sanofi | — |
| Completed | Baby Detect : Genomic Newborn Screening NCT05687474 | Centre Hospitalier Universitaire de Liege | — |
| Unknown | Clinical Specimen Collection From Pompe Disease Patients NCT04476550 | Serhat Gumrukcu, MD PhD | — |
| Completed | MSOT in Pompe Disease NCT05083806 | University of Erlangen-Nürnberg Medical School | N/A |
| Unknown | Frequency of Pompe Disease in Patients With Myalgia With or Without Hyper Ckemia - Data From the Reference Cen NCT05092230 | University Hospital Center of Martinique | — |
| Completed | A Study to Assess the Safety of Myozyme® and of Aldurazyme® in Male and Female Participants of Any Age Group W NCT05073783 | Sanofi | — |
| Unknown | High Risk Screen of Childhood Late-onset Pompe Disease in Pediatric Outpatient Clinics NCT04981210 | National Taiwan University Hospital | — |
| Completed | Development of an Assessment Tool for Health-related Quality of Life in Children and Adolescents With Pompe Di NCT04724213 | University Children's Hospital, Zurich | N/A |
| Active Not Recruiting | A Gene Transfer Study for Late-Onset Pompe Disease (RESOLUTE) NCT04093349 | Spark Therapeutics, Inc. | Phase 1 / Phase 2 |
| Unknown | Getting Global Rare Disease Insights Through Technology Study NCT04758130 | M.A.G.I.C. Clinic LTD | N/A |
| Completed | Neutralizing Antibody Seroprevalence Study With a Retrospective Component in Participants With Late-Onset Pomp NCT03893240 | Spark Therapeutics, Inc. | N/A |
| Active Not Recruiting | Developing a Management Approach for Patients With "Late-Onset" Pompe Disease NCT03694561 | Duke University | — |
| Completed | AAV2/8-LSPhGAA (ACTUS-101) in Late-Onset Pompe Disease NCT03533673 | AskBio Inc | Phase 1 |
| Completed | Diet and Exercise in Pompe Disease NCT02363153 | University of Florida | N/A |
| Completed | Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease NCT02240407 | University of Florida | Phase 1 |
| Terminated | VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Participants With Late-Onset Pompe Disease NCT02898753 | Valerion Therapeutics, LLC | Phase 1 / Phase 2 |
| Unknown | Search for Serum/Plasma Biomarkers in Pompe's Disease NCT03045042 | Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau | — |
| Completed | Pompe Disease QMUS and EIM NCT02742298 | Duke University | N/A |
| Terminated | A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction NCT02185651 | University of Florida | Phase 1 |
| Recruiting | Cognitive and Neurological Pathologies in Pompe Disease NCT04639336 | Duke University | — |
| Completed | Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (STIG-Pompe-Study) NCT02824068 | LMU Klinikum | — |
| Completed | First-In-Human Study to Evaluate Safety, Tolerability, and PK of Intravenous ATB200 Alone and When Co-Administ NCT02675465 | Amicus Therapeutics | Phase 1 / Phase 2 |
| Completed | Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Ass NCT02746718 | Centre Hospitalier Universitaire de Nice | N/A |
| Completed | Pompe Telemedicine Developmental Study NCT02950298 | Duke University | — |
| Completed | Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease. NCT02654886 | University of California, Irvine | N/A |
| Terminated | A Pilot Study of Pyridostigmine in Pompe Disease NCT02357225 | University of Florida | EARLY_Phase 1 |
| Unknown | Immune Modulation Therapy for Pompe Disease NCT02525172 | National Taiwan University Hospital | Phase 4 |
| Completed | Investigating Pompe Prevalence in Neuromuscular Medicine Academic Practices NCT02838368 | University of California, Irvine | — |
| Completed | Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease NCT02354664 | University of Florida | — |
| Completed | Alglucosidase Alfa Pompe Safety Sub-Registry NCT01710813 | Genzyme, a Sanofi Company | — |
| Completed | Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease NCT01410890 | Genzyme, a Sanofi Company | Phase 4 |
| Unknown | CPAP for Infantile Pompe Disease NCT02405624 | National Taiwan University Hospital | Phase 4 |
| Unknown | Investigating Lysosomal Storage Diseases in Minority Groups NCT02120235 | O & O Alpan LLC | — |
| Completed | Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease NCT02405598 | National Taiwan University Hospital | Phase 4 |
| Completed | Safety and Efficacy of Clenbuterol in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replaceme NCT01942590 | Dwight Koeberl, M.D., Ph.D. | Phase 1 / Phase 2 |
| Completed | Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients. NCT01898364 | Genzyme, a Sanofi Company | Phase 1 |
| Unknown | A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI NCT01914536 | Fundació Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau | — |
| Completed | Safety and Efficacy of Albuterol in Individuals With Late-onset Pompe Disease NCT01885936 | Duke University | Phase 1 / Phase 2 |
| Completed | Response to Diaphragmatic Pacing in Subjects With Pompe Disease NCT02354651 | University of Florida | — |
| Completed | Albuterol in Individuals With Late Onset Pompe Disease (LOPD) NCT01859624 | Duke University | Phase 1 |
| Completed | Pompe Lactation Sub-Registry NCT00566878 | Genzyme, a Sanofi Company | — |
| Terminated | A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disea NCT01526785 | Genzyme, a Sanofi Company | Phase 4 |
| Completed | Pregnancy and Birth Outcome in Women With Pompe Disease NCT01556516 | O & O Alpan LLC | — |
| Unknown | Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK NCT01482494 | Jordi Perez Lopez | — |
| Completed | Drug-drug Interaction Study NCT01380743 | Amicus Therapeutics | Phase 2 |
| Unknown | Screening for Early Detection and Prevention of Pompe Disease in Israel Using Tandem Mass Spectrometry NCT01409486 | Rambam Health Care Campus | — |
| Terminated | Extension Study for Patients Who Have Participated in a BMN 701 Study NCT01435772 | BioMarin Pharmaceutical | Phase 2 |
| Completed | Safety/Tolerability/Pharmacokinetic (PK)/Pharmacodynamics (PD) Study of BMN701 in Patients With Late-Onset Pom NCT01230801 | BioMarin Pharmaceutical | Phase 1 / Phase 2 |
| Completed | The Effects of Respiratory Muscle Strength Training (RMST) on Inspiratory and Expiratory Muscle Strength in Ad NCT01701154 | Duke University | — |
| Completed | Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease NCT00976352 | University of Florida | Phase 1 / 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 |
| Recruiting | Determination of CRIM Status and Longitudinal Follow-up of Individuals With Pompe Disease NCT01665326 | Duke University | — |
| Terminated | Immune Tolerance Induction Study NCT00701701 | Genzyme, a Sanofi Company | Phase 4 |
| Terminated | Study to Evaluate the Safety of AT2220 (Duvoglustat) in Pompe Disease NCT00688597 | Amicus Therapeutics | Phase 2 |
| Completed | Observational Study for Subjects With Pompe Disease Undergoing Immune Modulation Therapies NCT01451879 | University of Florida | — |
| Completed | Growth and Development Study of Alglucosidase Alfa NCT00486889 | Genzyme, a Sanofi Company | Phase 4 |
| Unknown | A Long Term Follow up Study in Late-onset Pompe Disease NCT00713245 | National Taiwan University Hospital | — |
| Completed | A Study to Evaluate the Effects of Pharmacological Chaperones in Cells From Patients With Pompe Disease NCT00515398 | Amicus Therapeutics | — |
| Completed | High Dose or High Dose Frequency Study of Alglucosidase Alfa NCT00483379 | Genzyme, a Sanofi Company | Phase 4 |
| Recruiting | A Long-term Study for the Outcome of Pompe Disease NCT02399748 | National Taiwan University Hospital | — |
| Unknown | Muscle Response to Enzyme Replacement Therapy in Pompe Disease NCT00713453 | National Taiwan University Hospital | — |
| Completed | Newborn Screening Assay of Pompe's Disease NCT01758354 | National Taiwan University Hospital | N/A |
| Completed | Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With L NCT00113035 | Genzyme, a Sanofi Company | — |
| Recruiting | Pompe Disease Registry Protocol NCT00231400 | Genzyme, a Sanofi Company | — |
| 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 |
| Available | Expanded Access for ATB200/AT2221 for the Treatment of Pompe Disease NCT03865836 | Amicus Therapeutics | — |