A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

Kishnani PS; Hwu WL; Mandel H; Nicolino M; Yong F; Corzo D; Infantile-Onset Pompe Disease Natural History Study Group

The Journal Of Pediatrics

2006

Female; Humans; infant; Male; Survival Rate; Cohort Studies; Disease Progression; Respiration; Longitudinal Studies; infant; Newborn; retrospective studies; Artificial; Europe/epidemiology; North America/epidemiology; Glycogen Storage Disease Type II/complications/epidemiology/therapy; Israel/epidemiology; Taiwan/epidemiology

OBJECTIVE: To characterize the natural progression of infantile-onset Pompe disease. STUDY DESIGN: Retrospective chart reviews of 168 patients with documented acid alpha-glucosidase deficiency and symptom onset by 12 months of age; Kaplan-Meier analysis of total and ventilator-free survival time; Cox proportional 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 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 approximately 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.

2006

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Journal Article

Backlog