The Pompe Registry: tracking Pompe disease symptoms in a broad patient population

These results show significant delay from symptom onset to diagnosis in adult patients, highlighting the need for greater disease awareness. Registry data on prevalence and age at onset of symptoms may allow earlier patient identification, enabling intervention before irreversible muscle damage occurs. Analysis of registry data over time may increase understanding of the evolution of, and interaction between, impairments and function under varying conditions and interventions, allowing improved clinical management.