Attarian Shahram, Campana Emmanuelle Salort, Perrier Stanislas, Afonso Marion, Karam Pierre, Hai Nassima, Laforet Pascal
FILNEMUS, Filière nationale des Maladies Neuromusculaires, Reference Centre for Neuromuscular Diseases and ALS, Centre Hospitalier Universitaire La Timone, Marseille, France.
France Reference Centre for Neuromuscular Diseases, ERN-NMD, Filnemus, Centre Hospitalier Universitaire La Timone, Marseille, France.
J Neurol. 2024 Sep;271(9):5846-5852. doi: 10.1007/s00415-024-12543-6. Epub 2024 Jul 4.
Pompe disease is caused by a rare biallelic mutation in the GAA gene resulting in acid α-glucosidase deficiency and glycogen accumulation.
We analyzed hospital admissions associated with the administration of Myozyme®, utilizing the French hospital discharge database, known in France as the Programme de Médicalisation des Systèmes d'Information (PMSI), which comprehensively captures all hospital activity within the country.
In this observational study, we examined hospitalization records from April 4, 2012, to December 31, 2019, within the PMSI database, focusing on admissions where Myozyme® was administered. We particularly investigated the incidence of critical care admissions and adverse events (AEs) related to Myozyme®.
From 2012 to 2019, approximately 26,714 hospital stays involving Myozyme® administration were recorded for 239 patients. Most (96.6%) of these were outpatient stays, with only 3.2% in critical care. Furthermore, hospitalizations without critical care needs increased from 96% in 2012 to 99% in 2019. Of the patients receiving at least one infusion, 997 critical care admissions were recorded, with 781 (78.3%) occurring concurrent with or the day after the Myozyme® treatment without directly correlating to adverse effects of enzyme therapy.
The analysis of the French hospital discharge database indicated that Myozyme® was associated with a low incidence of AEs and complications in a hospital context, supporting the consideration of its safe use in home-infusion settings.
庞贝氏病由GAA基因中罕见的双等位基因突变引起，导致酸性α-葡萄糖苷酶缺乏和糖原积累。
我们利用法国医院出院数据库（在法国称为医疗信息系统计划，即PMSI）分析了与美而赞®给药相关的住院情况，该数据库全面记录了法国境内所有医院的活动。
在这项观察性研究中，我们检查了PMSI数据库中2012年4月4日至2019年12月31日的住院记录，重点关注使用美而赞®的住院情况。我们特别调查了重症监护住院的发生率以及与美而赞®相关的不良事件（AE）。
2012年至2019年，共记录了239例患者涉及美而赞®给药的约26,714次住院。其中大多数（96.6%）为门诊住院，重症监护住院仅占3.2%。此外，无需重症监护的住院比例从2012年的96%增至2019年的99%。在接受至少一次输注的患者中，记录了997次重症监护住院，其中781次（78.3%）发生在美而赞®治疗期间或之后一天，与酶疗法的不良反应无直接关联。
对法国医院出院数据库的分析表明，在医院环境中美而赞®的不良事件和并发症发生率较低，支持考虑在家庭输注环境中安全使用该药。
