Few and mostly mild symptoms occurred during or after home-based enzyme replacement therapy (ERT) infusion to treat Pompe disease, according to a new study by Dutch researchers published in the Orphanet Journal of Rare Diseases. This finding suggests that ERT can safely be implemented at home.  

Home-based ERT has been used in the Netherlands for 15 years due to many advantages such as reducing treatment burden and increasing the flexibility and autonomy of the patients, the researchers noted.

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To validate the safety of home-based ERT in treating patients with Pompe disease, a team of researchers led by Hidde H. Huidekoper, MD, PhD, from the Sophia Children’s Hospital in Rotterdam, The Netherlands conducted a study in 116 patients with Pompe disease. 

Of these, 17 had classic infantile-onset Pompe disease, 15 had childhood-onset Pompe disease, 82 had adult-onset Pompe disease, and 2 had atypical infantile-onset Pompe disease.

The participants were asked to fill out 423 questionnaires during 1 year. The overall response rate was 88.1%.

The results showed that 17 patients reported symptoms 27 times during or after infusion. The most common health complaint was fatigue reported in 9.5% of patients. 

The researchers considered 4 health complaints to be infusion-associated reactions and reported these to the Erasmus MC University Medical Center but none of them needed emergency clinical care. 

“Our data demonstrate that home-based ERT in Pompe disease can be safely implemented,” the researchers concluded. “Insights from this study can be used as a base for implementing home-based ERT in other countries and to further optimize patient care, as unreported mild symptoms do not pose a health risk but may still be relevant to the patient.”

Pompe disease is a rare genetic disease characterized by the deficiency or absence of the lysosomal acid alpha-glucosidase (GAA) enzyme. The aim of ERT is to provide the body with functional GAA enzyme. 


Ditters IAM, van der Beek NAME, Brusse E, et al. Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study. Orphanet J Rare Dis. Published online May 8, 2023. doi:10.1186/s13023-023-02715-4