Background: Pompe disease is a lysosomal storage disorder characterized by the deficiency of acid α-glucosidase (GAA). Whether outcomes differ between very early (few days of age) and early (few weeks of age) ERT is unknown. In our series, 789,797 newborns were screened for Pompe disease. After 2010, we combined nationwide screening system with rapid diagnostic strategies. Treatment could be started at about 10 days of age. We analyzed the outcomes of our patients and compared these data to other IOPD cohort studies.
Methods: In this nationwide program, 789,797 newborns were screened for Pompe disease between January 1, 2008 and January 31, 2015. We diagnosed IOPD in 17 of these newborns, and all were treated and followed in our hospital. We analyzed the outcomes and compared the data to other IOPD cohort studies.
Results: After 2010, the mean age at first ERT was 10 days. Our patients have better biological, physical and developmental presentations and lower anti-rh GAA antibodies after 2 years of treatment, even compared to one group that began ERT just 10 days later than our cohort. No patient had a hearing disorder or abnormal vision. The mean age for independent walking was 11.6±1.3 months, the same age as normal children.
Conclusions: ERT for IOPD patients should be initiated before irreversible damage occurs. Our results indicate that early identification of IOPD patients allows for the very early initiation of ERT. Starting ERT even a few days earlier can lead to better patient outcomes.
