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

Research

Agata Fiumara¹  Antonino Lupica²  Rossella Parini³  Roberta Taurisano⁴  Michele Sacchini⁵  Elena Verrecchia⁶  Gabriele Siciliano⁷  Antonio Toscano⁸  Vittoria Cianci⁹  Sabrina Ravaglia^1,10  Grazia Crescimanno^1,11  Jennifer Gentile^1,12  Melania Maione^1,13  Lorenzo Maggi^1,14  Rita Fischetto^1,15  Maurizio Scarpa^1,16  Annalisa Sechi^1,17  Serena Gasperini^1,18  Olimpia Musumeci^1,19 

[1] A.O.U. Policlinico - Pediatric Clinic and Regional Referral Center for Inherited Metabolic Diseases, Via Santa Sofia, 78, 95122, Catania, CT, Italy;AOU Policlinico P. Giaccone of Palermo, Via del Vespro 129, 90127, Palermo, Italy;ASST Monza - Rare Disease Center, San Gerardo hospital in Monza, Via Pergolesi, 33 - 20900, Monza, MB, Italy;Bambin Gesù Pediatric Hospital Piazza Sant’Onofrio, 4 00165, Rome (RM), Italy;DH Hereditary metabolic-muscular diseases Meyer Hospital, Ground floor – DH Viale Pieraccini, 24, 50139, Florence, Italy;Department of Aging, Neurological, Orthopedic and Head and Neck Sciences, Agostino Gemelli University Hospital Foundation, Via Giuseppe Moscati, 31, 00168, Rome, RM, Italy;Department of Clinical and Experimental Medicine, S. Chiara Hospital - University of Pisa, Via Roma, 67, 56126, Pisa, Italy;Full Professor of Neurology, ERN-NMD Center of Messina for Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, AOU Policlinico “G. Martino”, Via Consolare Valeria, 1, 98125, Messina, Italy;Great Metropolitan Hospital “Bianchi Melacrino Morelli” – Neurology, Reggio Calabria (RC), Via Melacrino, 89100, Calabria, Italy;IRCCS Fondazione Istituto Neurologico Nazionale C.Mondino, Via Mondino, 2, 27100, Pavia, PV, Italy;Institute for Biomedical Research and Innovation (IRIB), National Research Council (CNR), Via La Malfa 153, Palermo, Italy;Medical Manager Gaucher, MPS & ASMD, Sanofi S.r.l., Viale Luigi Bodio 37/b, 20158, Milano, MI, Italy;Medical Manager Pompe Disease – Rare Diseases Specialty Care, Sanofi S.r.l., Viale Luigi Bodio 37/b, 20158, Milano, MI, Italy;Neuroimmunology and Neuromuscular Diseases Unit, IRCCS Istituto Neurologico Besta, Via Celoria, 11, 20133, Milan, MI, Italy;Policlinico di Bari Stabilimento Pediatrico Giovanni XXIII, Metabolic and Genetic Diseases, Piazza Giulio Cesare, 11, 70120, Bari, BA, Italy;Regional Coordinating Center for Rare Diseases, Udine University Hospital, 33100, Udine, Italy;Regional Coordination Center for Rare Diseases, Udine University Hospital, 33100, Udine, UD, Italy;Unit of Inherited Metabolic Disorders, Pediatric Department, IRCCS San Gerardo Foundation dei Tintori, Via Pergolesi, 33 – Monza (MB), Tintori, Italy;Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, 98125, Messina, ME, Italy;

关键词: Enzyme replacement therapy;    Pompe disease;    Home therapy;    Mucopolysaccharidosis;    Treatment adherence;    Safety;   

DOI  :  10.1186/s13023-023-02919-8

 received in 2023-06-28, accepted in 2023-09-18,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundThe 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.ResultsWe 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%).ConclusionsEvidence 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.

【 授权许可】

CC BY   
© The Author(s) 2023