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Home Infusion With Recombinant Human α-Glucosidase in Children With Pompe Disease: The Dutch Experience Over 20 Years

Imke A M Ditters1, Hidde H Huidekoper1, Jacqueline F Hardon1

  • 1Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Sophia Children's Hospital, PO Box 2060, 3000 CB, Rotterdam, The Netherlands.

Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy
|July 20, 2026
PubMed

Insights

Home enzyme replacement therapy (ERT) with recombinant human α-glucosidase (rhGAA) is safe for children with Pompe disease. Our protocol allows safe home infusions, even for those with classic infantile Pompe disease, with appropriate support.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Enzyme replacement therapy (ERT) is the standard treatment for Pompe disease, a rare genetic metabolic myopathy.
  • Home-based ERT is common in adults, but limited data exists for children due to higher doses and infusion-associated reactions (IARs).

Purpose of the Study:

  • To analyze the safety and efficacy of in-hospital versus home-based ERT programs in children with Pompe disease.
  • To provide guidance for implementing home-based ERT in pediatric Pompe disease patients.

Main Methods:

  • Retrospective analysis of 11,898 infusions administered to 52 children with Pompe disease (classic infantile, atypical infantile, childhood onset) between 1999 and 2022.
  • Evaluation of patient characteristics and infusion-associated reactions (IARs), graded by healthcare providers.

Main Results:

  • 55.6% of infusions were administered at home, with a significantly lower IAR rate (1.7%) compared to hospital infusions (8.7%).
  • Most IARs were mild and manageable; severe IARs were rare (21 total), with only two occurring at home.
  • Patients with the classic infantile phenotype experienced the majority of IARs.

Conclusions:

  • Home-based ERT with recombinant human α-glucosidase (rhGAA) is safe and feasible for children with Pompe disease, including those with classic infantile phenotypes.
  • Successful home ERT requires prior safe in-hospital treatment, robust infrastructure, and adequate clinical support.
Abstract

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