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Objective:To characterize the natural progression of infantile-onset Pompe disease. Study design:Retrospective chart reviews of 168 patients with documented acid α-glucosidase deficiency and symptom onset by 12 months of age; Kaplan-Meier analysis of total and ventilator-free survival time; Coxproportional hazards regression modeling of mortality risk factors.Results:The median age at symptom onset was 2.0 months (range 0 to 12 months),4.7 months at diagnosis (range:prenatal to 4.2 months),5.9 months at first ventilator support(range 0.1 to 31.1months),and 8.7 months at death (range 0.3 to73.4 months). Survival rates at 12 months of age were 25.7%overall and 16.9%ventilator-free; at 18 months 12.3%and 6.7%. Cardiomegaly (92%),hypotonia (88%),cardiomyopathy(88%),respiratory distress (78%),muscle weakness (63%),feeding difficulties (57%),and failure to thrive (53%) appeared after a median age of ～4.0 months. Multiple covariate analysis confirmed that early symptom onset increased risk of early death. Conclusion:Despite frequent therapeutic interventions,infantile-onset Pompe disease remains lethal.
Objective: To characterize the natural progression of infantile-onset Pompe disease. Study design: Retrospective chart reviews of 168 patients with documented acid α-glucosidase deficiency and symptom onset by 12 months of age; Kaplan-Meier analysis of total and ventilator-free survival time; Coxproportional hazards regression modeling of mortality risk factors. Results: The median age at symptom onset was 2.0 months (range 0 to 12 months), 4.7 months at diagnosis (range: prenatal to 4.2 months), 5.9 months at first ventilator support ( range 0.1 to 31.1 months and 8.7 months at death (range 0.3 to 73.4 months). Survival rates at 12.7 months overall were 25.7% overall and 16.9% ventilator-free; at 18 months 12.3% and 6.7%. Cardiomegaly ( 92%), hypotonia (88%), cardiomyopathy (88%), respiratory distress (78%), muscle weakness (63%), feeding difficulties (57%), and failure to thrive of ~ 4.0 months. Multiple covariate analysis confirmed that early symptom onset increased risk of early death. Conclusion: Despite frequent therapeutic interventions, infantile-onset Pompe disease remains lethal.