Abstract
Background:
Pompe disease is a lysosomal storage disease treated with life-long enzyme replacement therapy (ERT). Home-based ERT has been provided in the Netherlands since 2008 because it diminishes the burden of treatment, increases patient flexibility and autonomy, and is thus a more patient-centred approach to ERT.
Methods:
All Dutch Pompe patients receiving alglucosidase alfa infusions at home were approached to participate in a questionnaire to validate the safety of home-based ERT. Prospective data on symptoms occurring during or within 48 h after infusion and retrospective data on infusion associated reactions (IARs) in the last three months were collected four times during one year.
Results:
In total, 116 out of 120 eligible patients (17 classic infantile, 2 atypical infantile, 15 childhood onset and 82 adult) filled out 423 questionnaires (response rate: 88.1%). Symptoms during or after infusion were reported 27 times in 17 patients. Fatigue was the most commonly reported health complaint (in 9.5% of patients). Four health complaints were judged to be IARs and reported to the Erasmus MC University Medical Center. None of the IARs reported in this study warranted emergency clinical care.
Conclusions:
Our data demonstrate that home-based ERT in Pompe disease can be safely implemented as few, mostly mild, symptoms were reported during or after infusion. 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.
| Original language | English |
|---|---|
| Article number | 108 |
| Number of pages | 10 |
| Journal | Orphanet Journal of Rare Diseases |
| Volume | 18 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 8 May 2023 |
Bibliographical note
Funding Information:ID, EB, and HH declare no competing interest. NvdB received funding for research, clinical trials, and advisory fees from Sanofi working on enzyme replacement therapy or nextgeneration therapies in the field of Pompe disease, other lysosomal storage diseases or neuromuscular disorders, under an agreement between this company and Erasmus MC University Medical Center and the relevant industry. She also received a Veni grant from ZonMW: project no. 09150161910230. AvdP received funding for research, clinical trials, and advisory fees from Sanofi, Amicus Therapeutics, Spark Therapeutics, Denali Therapeutics and Takeda working on enzyme replacement therapy or nextgeneration therapies in the field of Pompe disease, other lysosomal storage diseases or neuromuscular disorders, under agreements with Erasmus MC University Medical Center and the relevant industry. JvdH received funding for research, clinical trials, and advisory fees from Sanofi, Denali therapeutics, Amicus Therapeutics and Takeda working on enzyme replacement therapy or nextgeneration therapies in the field of Pompe disease, other lysosomal storage diseases or neuromuscular disorders, under agreements with Erasmus MC University Medical Center and the relevant industry.
Funding Information:
The authors would like to thank Jacqueline Hardon, research nurse, and Carla de Haan, nurse, for training all the nurses on home infusions with alglucosidase alfa. This work was generated within the European Reference Networks for Hereditary Metabolic Disorders [Metab-ERN] and Rare Neuromuscular Diseases [Euro-NMD]. The Erasmus MC is a member of United for Metabolic Diseases.
Funding Information:
This study was partly supported by ZonMw, Prinses Beatrix Spierfonds, TKI Life Sciences & Health, and Sanofi. The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.
Publisher Copyright:
© 2023, The Author(s).
