A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.
OBJECTIVE
To characterize the natural progression of infantile-onset Pompe disease.


METHODS
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.


CONCLUSIONS
Despite frequent therapeutic interventions, infantile-onset Pompe disease remains lethal.
Kishnani
Priya S
PS
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. kishn001@mc.duke.edu
Hwu
Wuh-Liang
WL
Mandel
Hanna
H
Nicolino
Marc
M
Yong
Florence
F
Corzo
Deyanira
D
D015331:Cohort Studies; D018450:Disease Progression; D005060:Europe / Q000453:epidemiology; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000453:epidemiology* / Q000628:therapy; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007557:Israel / Q000453:epidemiology; D008297:Male; D009656:North America / Q000453:epidemiology; D012121:Respiration, Artificial; D012189:Retrospective Studies; D015996:Survival Rate; D013624:Taiwan / Q000453:epidemiology