OBJECTIVES: Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, leading to a deficiency of acid alpha-1,4-glucosidase and subsequent lysosomal glycogen storage, predominantly in cardiac and skeletal muscles. Enzyme replacement therapies (ERTs) such as Myozyme, Lumizyme, and Nexviazyme have been employed to address the underlying GAA deficiency. This study aimed to analyze the adverse events (AE) profiles associated with these ERTs.

METHODS: A retrospective study was conducted. All adverse event reports, patient demographics and outcomes associated with study drug ERTs were extracted from the FDA Adverse Event Reporting System (FAERS) spanning 2012 to 2023 quarter 2. The study encompassed a comprehensive analysis of the total number of case patients, total AE reports, the most frequently reported AEs, outcomes, indications, and patient demographics. Statistical analysis of data mining algorithms (reporting odds ratios ROR) for key AEs and outcomes were also conducted

RESULTS: There were a total of 4,001 case patients with mean age 28 years old, 38.7% female, 37.5% male, and 24% unknown gender. Total AE reports are 2,046 for Lumizyme, 1,402 for Myozyme, Alglucosidase 395 and 273 for Nexviazyme. Key significant safety signals (ROR>2.0, p<0.05) were identified as follows: cardiac failure, pneumonia, respiratory arrest for Myozyme; pneumonia, infusion-related reaction, dose omission for Lumizyme; and drug-specific antibodies for Nexviazyme. High frequent AE outcomes include hospitalization, life-threatening, and death.

CONCLUSIONS: The pattern of high risk of hospitalization and serious AEs was associated with ERTs for Pompe disease. Continued monitoring and research are imperative to enhance the understanding of safety profiles and ensure the well-being of patients undergoing enzyme replacement therapy.