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Updated: Oct 12, 2025

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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Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience

Javier de Las Heras1,2,3,4, Ainara Cano2, Ana Vinuesa1,2,3

  • 1Division of Pediatric Metabolism, CIBER-ER, Cruces University Hospital, 48903 Barakaldo, Spain.

Children (Basel, Switzerland)
|November 27, 2021
PubMed

Insights

Early enzyme replacement therapy (ERT) for infantile Pompe disease (IPD) significantly improves outcomes. Initiating ERT before 3 months, especially before 1 month, leads to better cardiac and biochemical results in IPD patients.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Infantile Pompe disease (IPD) is a severe, fatal lysosomal storage disorder.
  • Current enzyme replacement therapy (ERT) improves survival but outcomes vary with treatment initiation age.
  • Early diagnosis and intervention are critical for managing IPD.

Purpose of the Study:

  • To analyze diagnostic and treatment initiation procedures for IPD.
  • To compare clinical and biochemical outcomes based on ERT initiation age (<1 month vs. <3 months).

Main Methods:

  • Retrospective analysis of two IPD patients receiving early ERT with immunomodulatory therapy.
  • High-dose ERT initiated before 3 months of age.
  • Assessment of clinical (cardiomyopathy, muscle weakness) and biochemical (CK levels) markers.

Main Results:

  • Both patients showed satisfactory clinical and biochemical outcomes with early ERT initiation.
  • The patient treated before 1 month exhibited superior outcomes, including faster normalization of hypertrophic cardiomyopathy and CK levels.
  • Early intervention before irreversible muscle damage is crucial.

Conclusions:

  • Early ERT initiation, particularly before 1 month of age, is associated with significantly better outcomes in IPD.
  • Timely treatment can prevent irreversible muscle damage and improve cardiac function.
  • Optimizing ERT protocols and diagnostic timelines is essential for managing IPD.

Keywords:
Pompe diseaseearly diagnosisenzyme replacement therapyimmune tolerance inductionimmunomodulationinfantile Pompe disease

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