Journal Article

Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study

van der Beek, Nadine A. M. E., Ditters, Imke A. M., van den Hout, Johanna M. P., van der Ploeg, Ans T., Brusse, Esther, Huidekoper, Hidde H.

2023

Overview

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.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Adult / Adults / Alglucosidase alfa / Biopharmaceutics / Cardiomyopathy / Care and treatment / Child / Children / Complaints / Development and progression / Diagnosis / Enzyme Replacement Therapy / Enzyme replacement therapy (ERT) / Enzymes / Fatigue / Glycogen storage disease type II / Glycogen Storage Disease Type II - drug therapy / Glycogenosis / Health aspects / Heart diseases / Home treatment / Hospitals / Human Genetics / Humans / Infusion associated reactions (IARs) / Lysosomal storage diseases / Medical research / Medicine / Medicine & Public Health / Patients / Pharmacology/Toxicology / Pompe disease / Prospective Studies / Quality control / Questionnaires / Rare diseases / Retrospective Studies / Statistical analysis