Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond
Abstract Background The Italian Medicines Agency (AIFA) demands precise information on benefit/risk profile of home-based enzyme replacement therapy (ERT) for the treatment of patients with Pompe disease and Mucopolysaccharidosis type I (MPS I). This passage is necessary to obtain the authorization...
| Main Authors: | , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2023-10-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-023-02919-8 |
| _version_ | 1797647163861237760 |
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| author | Antonio Toscano Olimpia Musumeci Michele Sacchini Sabrina Ravaglia Gabriele Siciliano Agata Fiumara Elena Verrecchia Melania Maione Jennifer Gentile Rita Fischetto Grazia Crescimanno Roberta Taurisano Annalisa Sechi Serena Gasperini Vittoria Cianci Lorenzo Maggi Rossella Parini Antonino Lupica Maurizio Scarpa |
| author_facet | Antonio Toscano Olimpia Musumeci Michele Sacchini Sabrina Ravaglia Gabriele Siciliano Agata Fiumara Elena Verrecchia Melania Maione Jennifer Gentile Rita Fischetto Grazia Crescimanno Roberta Taurisano Annalisa Sechi Serena Gasperini Vittoria Cianci Lorenzo Maggi Rossella Parini Antonino Lupica Maurizio Scarpa |
| author_sort | Antonio Toscano |
| collection | DOAJ |
| description | Abstract Background The Italian Medicines Agency (AIFA) demands precise information on benefit/risk profile of home-based enzyme replacement therapy (ERT) for the treatment of patients with Pompe disease and Mucopolysaccharidosis type I (MPS I). This passage is necessary to obtain the authorization for ERT home therapy, even after the coronavirus disease-19 (COVID-19) pandemic period. This research intends to evaluate the safety, treatment satisfaction, and compliance of MPS I patients treated with laronidase (Aldurazyme®) and Pompe Disease patients treated with alglucosidase alfa (Myozyme®) in a homecare setting. Results We report herein an early interim analysis of the HomERT (Home infusions of ERT) study, a multicenter, non-interventional, double-cohort study that retrospectively analyzed 38 patients from 14 sites in Italy: cohort A (Pompe disease − 32 patients) and cohort B (MPS I − 6 patients). Among the selected patients who started home therapy before enrollment, the average number of missed home-based infusions was 0.7 (1.3) in cohort A and 3.8 (6.4) in cohort B with no return to the hospital setting. Irrespective of the treatment location, 3 prior ADRs per cohort were reported. The majority of patients preferred home-based infusions (cohort A: 96.9%; cohort B: 100%): the main reason was attributed to treatment convenience (cohort A: 81.3%; cohort B: 83.3%). Despite the underlying conditions, most patients self-evaluated their health as “good” (cohort A: 50%; cohort B: 83.3%). Conclusions Evidence of favorable safety profile, improved treatment compliance and personal satisfaction validates the use of ERT with laronidase and alglucosidase alfa as a strong candidate for home therapy. |
| first_indexed | 2024-03-11T15:12:23Z |
| format | Article |
| id | doaj.art-0a5becd85d924dc1b04b318ba6f147bc |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-03-11T15:12:23Z |
| publishDate | 2023-10-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-0a5becd85d924dc1b04b318ba6f147bc2023-10-29T12:36:24ZengBMCOrphanet Journal of Rare Diseases1750-11722023-10-0118111110.1186/s13023-023-02919-8Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyondAntonio Toscano0Olimpia Musumeci1Michele Sacchini2Sabrina Ravaglia3Gabriele Siciliano4Agata Fiumara5Elena Verrecchia6Melania Maione7Jennifer Gentile8Rita Fischetto9Grazia Crescimanno10Roberta Taurisano11Annalisa Sechi12Serena Gasperini13Vittoria Cianci14Lorenzo Maggi15Rossella Parini16Antonino Lupica17Maurizio Scarpa18Full Professor of Neurology, ERN-NMD Center of Messina for Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, AOU Policlinico “G. Martino”Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of MessinaDH Hereditary metabolic-muscular diseases Meyer HospitalIRCCS Fondazione Istituto Neurologico Nazionale C.MondinoDepartment of Clinical and Experimental Medicine, S. Chiara Hospital - University of PisaA.O.U. Policlinico - Pediatric Clinic and Regional Referral Center for Inherited Metabolic DiseasesDepartment of Aging, Neurological, Orthopedic and Head and Neck Sciences, Agostino Gemelli University Hospital FoundationMedical Manager Pompe Disease – Rare Diseases Specialty CareMedical Manager Gaucher, MPS & ASMDPoliclinico di Bari Stabilimento Pediatrico Giovanni XXIII, Metabolic and Genetic DiseasesInstitute for Biomedical Research and Innovation (IRIB), National Research Council (CNR)Bambin Gesù Pediatric Hospital Piazza Sant’OnofrioRegional Coordination Center for Rare Diseases, Udine University HospitalUnit of Inherited Metabolic Disorders, Pediatric Department, IRCCS San Gerardo Foundation dei TintoriGreat Metropolitan Hospital “Bianchi Melacrino Morelli” – Neurology, Reggio Calabria (RC)Neuroimmunology and Neuromuscular Diseases Unit, IRCCS Istituto Neurologico BestaASST Monza - Rare Disease Center, San Gerardo hospital in MonzaAOU Policlinico P. Giaccone of PalermoRegional Coordinating Center for Rare Diseases, Udine University HospitalAbstract Background The Italian Medicines Agency (AIFA) demands precise information on benefit/risk profile of home-based enzyme replacement therapy (ERT) for the treatment of patients with Pompe disease and Mucopolysaccharidosis type I (MPS I). This passage is necessary to obtain the authorization for ERT home therapy, even after the coronavirus disease-19 (COVID-19) pandemic period. This research intends to evaluate the safety, treatment satisfaction, and compliance of MPS I patients treated with laronidase (Aldurazyme®) and Pompe Disease patients treated with alglucosidase alfa (Myozyme®) in a homecare setting. Results We report herein an early interim analysis of the HomERT (Home infusions of ERT) study, a multicenter, non-interventional, double-cohort study that retrospectively analyzed 38 patients from 14 sites in Italy: cohort A (Pompe disease − 32 patients) and cohort B (MPS I − 6 patients). Among the selected patients who started home therapy before enrollment, the average number of missed home-based infusions was 0.7 (1.3) in cohort A and 3.8 (6.4) in cohort B with no return to the hospital setting. Irrespective of the treatment location, 3 prior ADRs per cohort were reported. The majority of patients preferred home-based infusions (cohort A: 96.9%; cohort B: 100%): the main reason was attributed to treatment convenience (cohort A: 81.3%; cohort B: 83.3%). Despite the underlying conditions, most patients self-evaluated their health as “good” (cohort A: 50%; cohort B: 83.3%). Conclusions Evidence of favorable safety profile, improved treatment compliance and personal satisfaction validates the use of ERT with laronidase and alglucosidase alfa as a strong candidate for home therapy.https://doi.org/10.1186/s13023-023-02919-8Enzyme replacement therapyPompe diseaseHome therapyMucopolysaccharidosisTreatment adherenceSafety |
| spellingShingle | Antonio Toscano Olimpia Musumeci Michele Sacchini Sabrina Ravaglia Gabriele Siciliano Agata Fiumara Elena Verrecchia Melania Maione Jennifer Gentile Rita Fischetto Grazia Crescimanno Roberta Taurisano Annalisa Sechi Serena Gasperini Vittoria Cianci Lorenzo Maggi Rossella Parini Antonino Lupica Maurizio Scarpa Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond Orphanet Journal of Rare Diseases Enzyme replacement therapy Pompe disease Home therapy Mucopolysaccharidosis Treatment adherence Safety |
| title | Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond |
| title_full | Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond |
| title_fullStr | Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond |
| title_full_unstemmed | Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond |
| title_short | Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond |
| title_sort | safety outcomes and patients preferences for home based intravenous enzyme replacement therapy ert in pompe disease and mucopolysaccharidosis type i mps i disorder covid 19 and beyond |
| topic | Enzyme replacement therapy Pompe disease Home therapy Mucopolysaccharidosis Treatment adherence Safety |
| url | https://doi.org/10.1186/s13023-023-02919-8 |
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