Table 1.

Unresolved clinical and research questions in Pompe disease

• Prevent the current significant delays and diagnostic odysseys in diagnosis of Pompe Disease • Optimal time to start disease modifying therapy, especially in Late-Onset Pompe Disease • Delay disease onset by use of strategies such as substrate reduction • Reason for the disconnect between the high birth incidence rate of Pompe Disease and lower prevalence of Pompe cases in neuromuscular clinics • Make treatments more effective  ○ Prolong the effectiveness of ERT  ○ Better delivery to target organs (skeletal muscle, cardiac muscle, CNS)  ○ Mitigate neutralizing antibodies to GAA  ○ Mitigate anti-capsid antibodies • Develop better and more sensitive outcome measures for measuring disease progression and treatment outcomes