Mitigating Disease Progression in Pompe Disease: Optimizing Early Diagnosis and Considering New Therapies to Improve Outcomes

Target Audience

The intended audience is inherited metabolic disease specialists, lysosomal storage disorder specialists, clinical geneticists, genetic counselors, cardiologists, hepatologists, neuromuscular specialists, neurologists, internal medicine, primary care providers, physician assistants and other HCPs involved in the diagnosis and management of Pompe disease

Program Overview

Pompe disease (PD) is a rare lysosomal storage disorder for which early diagnosis and treatment intervention with enzyme replacement therapy (ERT) are key to successful patient outcomes. This activity will discuss the keys to recognizing clinical presentations suggestive of PD, particularly in the absence of newborn screening, and the necessary steps for diagnosis. The clinical utility of ERT and the role of next-generation formulations will be examined alongside decision-making strategies for ERT initiation, selection, and switching. Finally, multidisciplinary strategies for monitoring disease progression and enhancing supportive care will be discussed.

Learning Objectives

Upon completion of this activity, participants should be better able to:

Implement strategies that facilitate the recognition of multi-system clinical manifestations of PD and promote subsequent differential diagnosis
Evaluate the efficacy and safety of new ERT formulations for PD and how they may address potential limitations of conventional therapies
Assess evolving practices for monitoring disease progression in PD, including the use of biomarkers, to inform clinical decisions regarding ERT initiation and optimization
Develop ERT treatment initiation, selection, and management plans for PD based on individual indicators of disease progression/severity