Home Infusion With Recombinant Human α-Glucosidase in Children With Pompe Disease: The Dutch Experience Over 20 Years Across the Spectrum From Classic Infantile to Late-Onset Phenotypes.

INTRODUCTION

Enzyme replacement therapy (ERT) is the standard treatment for patients with Pompe disease, a hereditary metabolic myopathy. While ERT in the home situation is increasingly common in adults with Pompe disease, experience in children remains limited due to higher dosing requirements and increased risk of infusion-associated reactions (IARs). We analysed the results of the in-hospital and home-based infusion programme applied in the Netherlands to children since 1999 to provide guidance.

METHODS

We studied hospital and home-based infusions administered to children with Pompe disease (i.e., classic infantile, atypical infantile, and childhood onset phenotypes) who started ERT between 1999 and 2022 and analysed the characteristics of patients and IARs. The IARs were graded by healthcare providers.

RESULTS

A total of 11,898 infusions with recombinant human α -glucosidase (rhGAA) were administered in 52 Pompe patients (27 classic infantile, two atypical infantile and 23 childhood onset phenotypes). Of these, 5278 infusions (44.4%) were given in hospital and 6620 (55.6%) were administered at home. IARs occurred in 458 hospital infusions (8.7%) and 110 home infusions (1.7%). The majority of IARs (87.1%) occurred in patients with the classic infantile phenotype. Most IARs were mild; only 21 severe IARs were reported, two of which occurred at home. All IARs could be managed adequately.

CONCLUSION

Recombinant human α-glucosidase can be safely administered at home using our protocol in children with Pompe disease, including those with classic infantile Pompe disease who are more likely to develop IAR, provided that in-hospital treatment has been shown to be safe, and the appropriate infrastructure and clinical support are in place.