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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes

Chia-Feng Yang1, Chen Chang Yang2, Hsuan-Chieh Liao3

  • 1Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan; Institute of Environmental and Occupational Health Sciences, National Yang-Ming University, Taipei, Taiwan.

The Journal of Pediatrics
|December 20, 2015
PubMed

Insights

Very early enzyme-replacement therapy (ERT) for infantile-onset Pompe disease (IOPD) significantly improves clinical outcomes. Initiating ERT even days earlier leads to better development and prevents irreversible damage in infants with IOPD.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Infantile-onset Pompe disease (IOPD) is a rare genetic disorder.
  • Early diagnosis and intervention are critical for managing IOPD.
  • Newborn screening programs are essential for early detection.

Purpose of the Study:

  • To assess the impact of very early enzyme-replacement therapy (ERT) on clinical outcomes in IOPD patients.
  • To compare outcomes of early ERT with other IOPD cohort studies.
  • To determine the optimal timing for initiating ERT in IOPD.

Main Methods:

  • Nationwide newborn screening for Pompe disease.
  • Diagnosis and treatment of 14 IOPD newborns.
  • Follow-up and outcome assessment after ERT initiation.

Main Results:

  • Mean age at first ERT was 11.92 days.
  • Patients showed improved biological, physical, and developmental outcomes.
  • No hearing or vision disorders were observed; normal walking age achieved.

Conclusions:

  • Early ERT initiation is crucial for patients with IOPD.
  • Very early treatment before irreversible damage leads to better outcomes.
  • Even small differences in ERT timing can significantly impact patient prognosis.
Abstract

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