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

被引：1

作者：

Toscano, Antonio ^{[1
]}

Musumeci, Olimpia ^{[2
]}

Sacchini, Michele ^{[3
]}

Ravaglia, Sabrina ^{[4
]}

Siciliano, Gabriele ^{[5
]}

Fiumara, Agata ^{[6
,7
]}

Verrecchia, Elena ^{[8
]}

Maione, Melania ^{[9
]}

Gentile, Jennifer ^{[10
]}

Fischetto, Rita ^{[11
]}

Crescimanno, Grazia ^{[12
]}

Taurisano, Roberta ^{[13
]}

Sechi, Annalisa ^{[14
]}

Gasperini, Serena ^{[15
]}

Cianci, Vittoria ^{[16
]}

Maggi, Lorenzo ^{[17
]}

Parini, Rossella ^{[18
]}

Lupica, Antonino ^{[19
]}

Scarpa, Maurizio ^{[20
]}

机构：

[1] Univ Messina, AOU Policlin G Martino, Dept Clin & Expt Med, ERN NMD Ctr Messina Neuromuscular Disorders, Via Consolare Valeria 1, I-98125 Messina, Italy

[2] Univ Messina, Dept Clin & Expt Med, Unit Neurol & Neuromuscular Disorders, I-98125 Messina, ME, Italy

[3] Meyer Hosp, DH Hereditary Metab Muscular Dis, Ground Floor DH Viale Pieraccini,24, I-50139 Florence, Italy

[4] IRCCS Fdn Ist Neurol Nazl C Mondino, Via Mondino 2, I-27100 Pavia, PV, Italy

[5] Univ Pisa, S Chiara Hosp, Dept Clin & Expt Med, Via Roma 67, I-56126 Pisa, Italy

[6] AOU Policlin, Pediat Clin, Via St Sofia,78, I-95122 Catania, CT, Italy

[7] AOU Policlin, Reg Referral Ctr Inherited Metab Dis, Via St Sofia,78, I-95122 Catania, CT, Italy

[8] Agostino Gemelli Univ Hosp Fdn, Dept Aging Neurol Orthoped & Head & Neck Sci, Via Giuseppe Moscati,31, I-00168 Rome, RM, Italy

[9] Sanofi Srl, Med Manager Pompe Dis Rare Dis Specialty Care, Viale Luigi Bodio 37 b, I-20158 Milan, MI, Italy

[10] Sanofi Srl, MPS & ASMD, Med Manager Gaucher, Viale Luigi Bodio 37 b, I-20158 Milan, Italy

[11] Policlin Bari Stabilimento Pediat Giovanni XXIII M, Piazza Giulio Cesare 11, I-70120 Bari, BA, Italy

[12] Natl Res Council CNR, Inst Biomed Res & Innovat IRIB, Via La Malfa 153, Palermo, Italy

[13] Bambin Gesu Pediat Hosp Piazza St Onofrio, I-00165 Rome 4, RM, Italy

[14] Udine Univ Hosp, Reg Coordinat Ctr Rare Dis, I-33100 Udine, UD, Italy

[15] IRCCS San Gerardo Fdn Tintori, Pediat Dept, Unit Inherited Metab Disorders, Via Pergolesi,33, Monza, MB, Italy

[16] Great Metropolitan Hosp Bianchi Melacrino Morelli, Reggio Calabria RC, Via Melacrino, I-89100 Calabria, Italy

[17] IRCCS Ist Neurol Besta, Neuroimmunol & Neuromuscular Dis Unit, Via Celoria,11, I-20133 Milan, MI, Italy

[18] San Gerardo Hosp Monza, ASST Monza Rare Dis Ctr, Via Pergolesi, I-20900 Monza 33, MB, Italy

[19] AOU Policlin P Giaccone Palermo, Via Vespro 129, I-90127 Palermo, Italy

[20] Udine Univ Hosp, Reg Coordinating Ctr Rare Dis, I-33100 Udine, Italy

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2023年 / 18卷 / 01期

关键词：

Enzyme replacement therapy; Pompe disease; Home therapy; Mucopolysaccharidosis; Treatment adherence; Safety; LYSOSOMAL STORAGE DISEASES; INBORN-ERRORS; METABOLISM; PREVALENCE;

D O I：

10.1186/s13023-023-02919-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

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 (R)) and Pompe Disease patients treated with alglucosidase alfa (Myozyme (R)) 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.

引用

页数：11

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