Author(s): MORIGGI, T., POLLASTRI, L., CORTI, E., VILLA, E., PELI, L., CORTI, M., ROCCO, C.1, GASPERINI, S., FARAGUNA, M.C., BALDUZZI, A., LANFRANCONI, F., Institution: FONDAZIONE MONZA E BRIANZA PER IL BAMBINO E LA SUA MAMMA, Country: ITALY, Abstract-ID: 2471

INTRODUCTION:
Glycogen storage disease type II (GSD-II), commonly known as Pompe disease, and mucopolysaccharidosis type II (MPS II) are rare, inherited and progressive metabolic disorders characterized by multisystem involvement, including progressive proximal muscle weakness and respiratory insufficiency. These conditions may present in childhood, adolescence, or adulthood. Enzyme replacement therapy (ERT) is the standard of care for both diseases and requires periodic and prolonged infusions. Previous studies suggest that exercise increases blood flow to skeletal muscles, potentially enhancing the delivery of the infused enzyme to affected tissues.
The aim of this study was to describe a precision-based exercise training program (PEx) integrated during ERT in children with early-onset Pompe disease (EOPD) and MPS II, delivered both in person and via telemedicine, and to evaluate its clinical impact and organizational feasibility.

METHODS:
Nine children ( 7 GSD-II and 2 MPS II, 5 males, 4 females; mean age 9 years) were enrolled from September 2024 to December 2025 at a referral outpatient clinic of a public hospital in Monza, Italy. All participants underwent a PEx program tailored to age, functional profile, and clinical status, with particular attention to fatigue management. Training sessions were integrated during ERT infusions and delivered both onsite and remotely.
RESULTS:
A total of 42 telemedicine sessions and 14 outpatient clinic sessions were conducted during ERT. No exercise-related adverse events were recorded. Parents were present during each training session, ensuring safety and adherence.
CONCLUSION:
The integration of telemedicine and in-person precision-based exercise training during ERT appears to be a safe and feasible approach for children with EOPD and MPS II. Family involvement and collaboration with pediatricians represent key factors for the sustainability and scalability of this intervention.