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Updated: Mar 31, 2026

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

Published on: December 20, 2017

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Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy

A Broomfield1, J Fletcher2, J Davison3

  • 1Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospital Foundation Trust, Oxford Road, Manchester, UK. alexander.broomfield@cmft.nhs.uk.

Journal of Inherited Metabolic Disease
|October 27, 2015
PubMed

Insights

Enzyme replacement therapy (ERT) for infantile Pompe disease shows varied outcomes. Baseline failure to thrive and left ventricular dilation predict poorer survival and ambulation in treated children.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatric Medicine

Background:

  • Enzyme replacement therapy (ERT) for infantile-onset Pompe disease has been available for nearly a decade.
  • This study examines ERT use in a UK cohort across three specialist lysosomal treatment centers.

Purpose of the Study:

  • To evaluate the real-world effectiveness and outcomes of ERT in infantile-onset Pompe disease.
  • To identify baseline characteristics that predict treatment response and prognosis.

Main Methods:

  • Retrospective case-note review and national audit data collection.
  • Logistic regression analysis to assess the impact of baseline characteristics on outcomes.
  • Evaluation of 33 patients treated with ERT, including cross-reactive immunological material (CRIM) status and immunomodulation.

Main Results:

  • 45% of patients were CRIM-negative; 9 received immunomodulation.
  • At baseline, 79% had heart failure, 66% failure to thrive, and 70% pulmonary collapse.
  • Overall survival was 60%, ventilation-free survival 40%, and 30% were ambulatory. CRIM status impacted outcomes. Baseline failure to thrive and left ventricular dilatation were associated with poorer outcomes.

Conclusions:

  • Treatment outcomes for infantile Pompe disease remain heterogeneous despite immunomodulation.
  • Baseline failure to thrive and left ventricular dilation are significant predictors of adverse outcomes.
  • Further research into optimizing ERT and managing comorbidities is warranted.
Abstract

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