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首页> 美国卫生研究院文献>Molecular Genetics and Metabolism Reports >Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group
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Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group

机译：法布里疾病的酶替代疗法家庭输液计划：一个大型意大利合作组织的经验

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Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introduction of Enzyme Replacement Therapy (ERT) resulted in a variety of clinical benefits, life-long intravenous (IV) treatment with ERT with an every other week schedule, may interfere with daily life activities and impact on QoL. We report here a multicentric, observational, longitudinal data analysis on a large cohort of 85 Italian FD patients (45 males, 40 females) from 11 out of 20 Italian regions, who received a cumulative number of 4269 home infusions of agalsidase alfa. For the whole cohort, the average duration of home therapy was 1 year and 11 months (range 3 months–4 years and 6 months), and during this period, compliance to treatment (number of infusions performed vs scheduled) reached 100%. The EQ-5 VAS scale was administered to patients to evaluate the self-reported QoL, 58% of patients showing an increase of EQ-5 VAS score at follow up compared to baseline (home treatment start) or remaining stable. A mild increase of average disease severity, measured through Mainz Severity Score Index (MSSI), was found during hospital treatment (p < 0,007), while it remained stable between the first home therapy infusion and last follow up. Interestingly, 4 out of 7 (57%) patients, showing an improvement in FD-related clinical status after starting home therapy, had previously a sub-optimal compliance to treatment during the period of hospital treatment management. Only 4 adverse non serious reactions (0,093%) were reported totally in 2 patients during home treatment.We conclude that home infusions in eligible patients with FD are safe, contribute to improve treatment compliance and therapeutic clinical outcomes, and may have a positive impact on self-perceived QoL.
机译：Fabry病（FD）[OMIM 301500]是X连锁的溶酶体贮积病，由溶酶体酶α-半乳糖苷酶A的缺乏引起，导致逐渐增长的globotriaosylceramide（Gb3）多系统积累。尽管酶替代疗法（ERT）的引入带来了多种临床益处，但是每隔一周使用ERT进行终身静脉（IV）治疗可能会干扰日常生活并影响生活质量。我们在此报告了来自20个意大利地区中的11个地区的85名意大利FD患者（共45例男性，40例女性）的大队列研究，该研究多队列，纵向，纵向数据分析，他们总共接受了4269例阿加糖酶的家庭输注。对于整个队列，家庭疗法的平均持续时间为1年和11个月（范围为3个月至4年和6个月），在此期间，对治疗的依从性（输液次数与计划输液次数）达到100％。对患者使用EQ-5 VAS量表以评估自我报告的QoL，与基线（家庭治疗开始）相比，随访时EQ-5 VAS评分增加或保持稳定的患者占58％。在医院治疗期间发现通过Mainz严重度评分指数（MSSI）衡量的平均疾病轻度轻度增加（p <0,007），而在首次家庭疗法输注和最后一次随访之间保持稳定。有趣的是，在开始家庭治疗后，有7名患者中有4名（57％）表现出与FD相关的临床状况改善，在医院治疗管理期间之前对治疗的依从性较差。在家庭治疗期间，在2例患者中总共仅报告了4例不良非严重反应（0,093％）。我们得出结论，合格的FD患者进行家庭输液是安全的，有助于改善治疗依从性和治疗性临床结局，并且可能对自我感觉质量。

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