Overview
Evaluate short- and long-term biomarker, motor function, respiratory function and safety with avalglucosidase alfa in IOPD and LOPD patients who switched from other ERT.
Description
Clinical characteristics of Pompe patients receiving avalglucosidase alfa will be collected and analyzed. Adverse events occurring during avalglucosidase alfa treatment will be collected and described. Urinary Glc4/Hex4 is the primary endpoints for effectiveness analysis of avalglucosidase alfa. Other assessment items include creatine kinase, motor function (Quick Motor Function Test) and respiratory function (forced vital capacity). The evolution of those assessment items after avalglucosidase alfa treatment will be descriptively analyzed and compared to baseline assessments (i.e., the time before initiating avalglucosidase alfa and/or one-year preceding avalglucosidase alfa initiation) at the individual patient level depending on prior duration of ERT at time of avalglucosidase alfa switch.
Eligibility
Inclusion criteria:
-Confirmed GAA enzyme deficiency (any tissue source) and/or confirmed 2 pathogenic GAA gene variants Pompe patient
Exclusion criteria:
- Having severe allergic reaction to avalglucosidase alfa.
- Patient/parent/legal guardian is not agreeing to provide signed informed consent, and the patient, if \<18 years of age
