Infantile-Onset Pompe Disease: Current Therapeutic Landscape, Clinical Challenges, and Future Horizons

Infantile-onset Pompe disease (IOPD) is a type of Pompe disease (PD) whose typical form presents in the first months of life. It is the most severe form of the PD spectrum. The underlying metabolic disturbance leads to widespread muscle involvement, affecting both cardiac and skeletal tissues, which critically impairs motor and respiratory function. Because of that, without treatment, the disease quickly progresses and leads to death.  The aim of this article is to present the potential of treatment options for IOPD that have been developed in recent years. Currently, enzyme replacement therapy (ERT) represents the cornerstone of management, aiming to improve cardiac function, support motor development, and extend overall survival. Advanced therapeutic formulations continue to be explored to enhance treatment outcomes. However, conventional ERT presents inherent limitations, including the logistical burden of lifelong intravenous infusions, potential treatment-limiting immune responses, and restricted passage across the blood-brain barrier. Moreover, the challenges posed by ERT have encouraged the development of alternative and complementary treatment strategies. Therefore, novel approaches are currently being investigated.