Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study
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 patie...
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| Format: | Article |
| Language: | English |
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BMC
2023-05-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-023-02715-4 |
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| author | Imke A. M. Ditters Nadine A. M. E. van der Beek Esther Brusse Ans T. van der Ploeg Johanna M. P. van den Hout Hidde H. Huidekoper |
| author_facet | Imke A. M. Ditters Nadine A. M. E. van der Beek Esther Brusse Ans T. van der Ploeg Johanna M. P. van den Hout Hidde H. Huidekoper |
| author_sort | Imke A. M. Ditters |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-09T12:47:37Z |
| format | Article |
| id | doaj.art-b38054f598804cc0b61cfb2424019d8a |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-09T12:47:37Z |
| publishDate | 2023-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-b38054f598804cc0b61cfb2424019d8a2023-05-14T11:27:28ZengBMCOrphanet Journal of Rare Diseases1750-11722023-05-0118111010.1186/s13023-023-02715-4Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective studyImke A. M. Ditters0Nadine A. M. E. van der Beek1Esther Brusse2Ans T. van der Ploeg3Johanna M. P. van den Hout4Hidde H. Huidekoper5Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Sophia Children’s HospitalDepartment of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical CenterDepartment of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical CenterDepartment of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Sophia Children’s HospitalDepartment of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Sophia Children’s HospitalDepartment of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Sophia Children’s HospitalAbstract 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.https://doi.org/10.1186/s13023-023-02715-4Pompe diseaseGlycogen storage disease type IIEnzyme replacement therapy (ERT)Alglucosidase alfaHome treatmentInfusion associated reactions (IARs) |
| spellingShingle | Imke A. M. Ditters Nadine A. M. E. van der Beek Esther Brusse Ans T. van der Ploeg Johanna M. P. van den Hout Hidde H. Huidekoper Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study Orphanet Journal of Rare Diseases Pompe disease Glycogen storage disease type II Enzyme replacement therapy (ERT) Alglucosidase alfa Home treatment Infusion associated reactions (IARs) |
| title | Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study |
| title_full | Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study |
| title_fullStr | Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study |
| title_full_unstemmed | Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study |
| title_short | Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study |
| title_sort | home based enzyme replacement therapy in children and adults with pompe disease a prospective study |
| topic | Pompe disease Glycogen storage disease type II Enzyme replacement therapy (ERT) Alglucosidase alfa Home treatment Infusion associated reactions (IARs) |
| url | https://doi.org/10.1186/s13023-023-02715-4 |
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