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

Priya S Kishnani1, Wuh-Liang Hwu, Hanna Mandel

  • 1Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA. kishn001@mc.duke.edu

The Journal of Pediatrics
|June 2, 2006
PubMed

Insights

Infantile-onset Pompe disease, a severe genetic disorder, progresses rapidly with early symptoms and remains lethal despite treatments. Early symptom onset significantly increases the risk of early mortality in affected infants.

Area of Science:

  • Genetics and rare diseases
  • Pediatric neurology
  • Metabolic disorders

Background:

  • Infantile-onset Pompe disease (IOPD) is a severe, progressive neuromuscular disorder caused by acid alpha-glucosidase deficiency.
  • Understanding the natural history of IOPD is crucial for evaluating therapeutic interventions and improving patient outcomes.

Purpose of the Study:

  • To characterize the natural progression of infantile-onset Pompe disease.
  • To identify key clinical features and their timing.
  • To analyze survival rates and mortality risk factors in IOPD.

Main Methods:

  • Retrospective chart review of 168 patients with IOPD diagnosed by acid alpha-glucosidase deficiency and symptom onset within the first 12 months of life.
  • Kaplan-Meier analysis for overall and ventilator-free survival.
  • Cox proportional hazards regression modeling to determine mortality risk factors.

Main Results:

  • Median age at symptom onset was 2.0 months, diagnosis 4.7 months, and death 8.7 months.
  • Survival rates at 12 months were 25.7% overall and 16.9% ventilator-free; at 18 months, 12.3% and 6.7%, respectively.
  • Common symptoms include cardiomegaly, hypotonia, cardiomyopathy, and respiratory distress, appearing around 4.0 months; early symptom onset correlated with increased mortality risk.

Conclusions:

  • Infantile-onset Pompe disease is a rapidly progressive and lethal condition in infants.
  • Despite various therapeutic interventions, the disease remains fatal, highlighting the urgent need for effective treatments.
  • Early symptom recognition and intervention are critical, as early onset predicts a higher risk of early death.
Abstract

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