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.
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.
Authors: Piers C A Barker; Sara K Pasquali; Stephen Darty; Richard J Ing; Jennifer S Li; Raymond J Kim; Stephanie DeArmey; Priya S Kishnani; Michael J Campbell Journal: Mol Genet Metab Date: 2010-07-23 Impact factor: 4.797
Authors: Elizabeth A Ottinger; Mark L Kao; Nuria Carrillo-Carrasco; Nicole Yanjanin; Roopa Kanakatti Shankar; Marjo Janssen; Marcus Brewster; Ilona Scott; Xin Xu; Jim Cradock; Pramod Terse; Seameen J Dehdashti; Juan Marugan; Wei Zheng; Lili Portilla; Alan Hubbs; William J Pavan; John Heiss; Charles H Vite; Steven U Walkley; Daniel S Ory; Steven A Silber; Forbes D Porter; Christopher P Austin; John C McKew Journal: Curr Top Med Chem Date: 2014 Impact factor: 3.295
Authors: Kunil K Raval; Ran Tao; Brent E White; Willem J De Lange; Chad H Koonce; Junying Yu; Priya S Kishnani; James A Thomson; Deane F Mosher; John C Ralphe; Timothy J Kamp Journal: J Biol Chem Date: 2014-12-08 Impact factor: 5.157
Authors: Priya S Kishnani; Paula C Goldenberg; Stephanie L DeArmey; James Heller; Danny Benjamin; Sarah Young; Deeksha Bali; Sue Ann Smith; Jennifer S Li; Hanna Mandel; Dwight Koeberl; Amy Rosenberg; Y-T Chen Journal: Mol Genet Metab Date: 2010-01 Impact factor: 4.797