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, Messina, 98125, Italy.
Unit of Neurology and Neuromuscular Disorders, Department of Clinical and Experimental Medicine, University of Messina, Messina, 98125, ME, Italy.
Orphanet J Rare Dis. 2023 Oct 27;18(1):338. doi: 10.1186/s13023-023-02919-8.
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.
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%).
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.
意大利药品管理局（AIFA）要求提供关于在家中进行酶替代疗法（ERT）治疗庞贝病和黏多糖贮积症 I 型（MPS I）患者的获益/风险概况的准确信息。这对于在冠状病毒病-19（COVID-19）大流行期间获得 ERT 家庭治疗的授权是必要的。本研究旨在评估在家中接受治疗的 MPS I 患者（用拉罗酶素（Aldurazyme®）治疗）和 Pompe 病患者（用阿糖苷酶α（Myozyme®）治疗）的安全性、治疗满意度和依从性。
我们在此报告了 HomERT（在家中进行 ERT 输注）研究的早期中期分析，这是一项多中心、非干预性、双队列研究，回顾性分析了意大利 14 个地点的 38 名患者：队列 A（庞贝病 - 32 名患者）和队列 B（MPS I - 6 名患者）。在开始入组前在家中接受治疗的选定患者中，队列 A 中有 0.7（1.3）次错过家庭输注，队列 B 中有 3.8（6.4）次错过家庭输注，但没有返回医院治疗。无论治疗地点如何，每个队列均报告了 3 例治疗相关不良事件。大多数患者更喜欢在家中进行输注（队列 A：96.9%；队列 B：100%）：主要原因是治疗方便（队列 A：81.3%；队列 B：83.3%）。尽管存在基础疾病，但大多数患者自我评估健康状况为“良好”（队列 A：50%；队列 B：83.3%）。
有利的安全性、改善的治疗依从性和个人满意度的证据验证了使用拉罗酶素和阿糖苷酶α作为家庭治疗的强有力候选药物。
