As of March 2022, 34 clinical trials for Pompe disease are currently active or recruiting study participants, and more than 50 trials for Pompe disease have been completed.1 Several clinical trials are assessing the efficacy, safety, and tolerability of gene therapy techniques, while others continue to evaluate the efficacy and safety of enzyme replacement therapy (ERT). Still other trials are investigating natural disease progression, epidemiology, biomarkers, symptomatology, pathophysiology, and nonpharmacological interventions such as diaphragmatic breathing exercises.1

Gene Therapy

Researchers at Duke University, the University of California Irvine, and the University of Pennsylvania are conducting preclinical or clinical trials to analyze the efficacy and safety of gene therapy or gene transfer interventions in individuals with Pompe disease. Gene therapy uses an adeno-associated virus (AAV) vector. The altered viruses contain genetic information that accurately transduces normal acid alpha-glucosidase (GAA) genes into liver cells. After insertion of the normal genetic material, the liver cells continually produce functional GAA enzyme, enabling normal glycogen metabolism within lysosomes. Preclinical studies performed at Duke confirmed uptake of the functional GAA enzyme into heart and skeletal muscles, which correlated with improvement in the clearance of accumulated glycogen in tissues and improvement in muscle function.1-5

Glycogen Inhibitors

In February 2022, Maze Therapeutics began a double-blind, placebo-controlled, single ascending dose and multiple ascending dose phase I trial to test the efficacy of their new oral glycogen synthase (GYS1) inhibitor, pharmaceutical MZE001. Ideally, this medication will reduce the accumulation of lysosomal glycogen in tissues.6

Enzyme Replacement Therapy

In May 2006, the US Food and Drug Administration (FDA) approved the first ERT, Myozyme®, for Pompe disease. The drug, also known as alglucosidase alfa, is manufactured by Genzyme.7 More recently, in August 2021, the FDA approved a novel ERT, Nexviazyme™, for patients with Pompe disease who are older than 1 year.8 Nexviazyme is manufactured by Sanofi.

Many ongoing clinical trials continue to assess the efficacy of alglucosidase alfa in regard to functional outcomes in patients with Pompe disease.1 A clinical trial completed in 2010 demonstrated that alglucosidase alfa increased walking distance and improved pulmonary function in patients with Pompe disease after an 18-month trial period.9

In addition to Myozyme and Nexviazyme, other novel ERTs intended to elevate the blood levels of GAA enzyme and improve functional status in individuals with Pompe disease are being developed and tested. One such investigational trial is currently recruiting adult patients with Pompe disease to determine whether the co-administration of 2 novel drugs, cipaglucosidase alfa (ATB200) and miglustat (AT2221), is safe and effective, and to assess pharmacokinetics. These drugs are administered intravenously and are intended to provide an additional ERT option. The primary outcome measure is change in the serum concentration of functional GAA enzyme.10,11 

The University of California San Francisco is currently conducting a clinical trial to determine the feasibility and safety of administering in utero ERT for 9 different types of lysosomal storage disease, including infantile-onset Pompe disease. The aim of this intervention is to reduce perinatal morbidity and mortality in infants known to be affected by a lysosomal storage disease.12 


  1. Recruiting, active not recruiting studies: Pompe disease. Accessed March 6, 2022.
  2. Gene therapy for the treatment of Pompe disease. National Center for Advancing Translational Sciences. Updated May 14, 2021. Accessed March 6, 2022.
  3. Khanna S. Duke to begin clinical trials for Pompe disease gene therapy this fall. News release. Duke Department of Pediatrics; March 28, 2018.
  4. A gene transfer study for late-onset Pompe disease (RESOLUTE). UCI Clinical Trials. Accessed March 6, 2022.
  5. Pompe disease clinical trials. Amicus Therapeutics. Accessed March 6, 2022. 
  6. Maze Therapeutics initiates dosing in Phase I trial of Pompe disease asset. News release. Clinical Trials Arena; February 18, 2022. 
  7. FDA approves Genzyme corporation’s Myozyme® for all patients with Pompe disease; drug to carry warning. News release. BioSpace; May 1, 2006.
  8. Gavidia M. Novel enzyme replacement therapy gains FDA approval in Pompe disease. News release. AJMC; August 7, 2021. 
  9. van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med. 2010;362(15):1396-1406. doi:10.1056/nejmoa0909859
  10. An Open-Label, Fixed-Sequence, Ascending-Dose, First-in-Human Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of Intravenous Infusions of ATB200 Co-Administered With Oral AT2221 in Adult Subjects With Pompe Disease. NCT02675465. Accessed March 6, 2022.
  11. ATB200-02 trial overview. Pompe. Accessed March 6, 2022.
  12. In Utero Enzyme Replacement Therapy (ERT) for Prenatally Diagnosed Lysosomal Storage Disorders (LSDs). NCT04532047. Accessed March 3, 2022. 

Reviewed by Harshi Dhingra, MD, on 3/5/2022.