基于家庭的酶替代疗法在儿童和成人庞贝病中的应用：一项前瞻性研究。
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study.
机构信息
Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Sophia Children's Hospital, PO Box 2060, 3000 CB, Rotterdam, The Netherlands.
Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
出版信息
Orphanet J Rare Dis. 2023 May 8;18(1):108. doi: 10.1186/s13023-023-02715-4.
BACKGROUND
Pompe disease is a lysosomal storage disease treated with life-long enzyme replacement therapy (ERT). Home-based ERT has been provided in the Netherlands since 2008 because it diminishes the burden of treatment, increases patient flexibility and autonomy, and is thus a more patient-centred approach to ERT.
METHODS
All Dutch Pompe patients receiving alglucosidase alfa infusions at home were approached to participate in a questionnaire to validate the safety of home-based ERT. Prospective data on symptoms occurring during or within 48 h after infusion and retrospective data on infusion associated reactions (IARs) in the last three months were collected four times during one year.
RESULTS
In total, 116 out of 120 eligible patients (17 classic infantile, 2 atypical infantile, 15 childhood onset and 82 adult) filled out 423 questionnaires (response rate: 88.1%). Symptoms during or after infusion were reported 27 times in 17 patients. Fatigue was the most commonly reported health complaint (in 9.5% of patients). Four health complaints were judged to be IARs and reported to the Erasmus MC University Medical Center. None of the IARs reported in this study warranted emergency clinical care.
CONCLUSIONS
Our data demonstrate that home-based ERT in Pompe disease can be safely implemented as few, mostly mild, symptoms were reported during or after infusion. Insights from this study can be used as a base for implementing home-based ERT in other countries and to further optimize patient care, as unreported mild symptoms do not pose a health risk but may still be relevant to the patient.
背景
庞贝病是一种溶酶体贮积病，需要终身进行酶替代治疗（ERT）。自 2008 年以来，荷兰已经开展了家庭 ERT，因为它减轻了治疗负担，增加了患者的灵活性和自主性，因此是一种更以患者为中心的 ERT 方法。
方法
所有在荷兰家中接受葡萄糖脑苷脂酶 α 输注的庞贝病患者都被邀请参与一项问卷调查，以验证家庭 ERT 的安全性。在一年的时间里，共收集了四次前瞻性数据，即在输注期间或输注后 48 小时内发生的症状，以及过去三个月内与输注相关的反应（IAR）的回顾性数据。
结果
共有 120 名符合条件的患者中的 116 名（17 名经典婴儿型、2 名非典型婴儿型、15 名儿童发病型和 82 名成人型）填写了 423 份问卷（应答率：88.1%）。在 17 名患者中，有 27 次在输注期间或之后报告了症状。疲劳是最常见的健康投诉（9.5%的患者）。有 4 种健康投诉被判定为 IAR，并向伊拉斯谟医学中心报告。在本研究中报告的 IAR 均无需紧急临床护理。
结论
我们的数据表明，庞贝病的家庭 ERT 可以安全实施，因为在输注期间或之后报告的症状很少且大多为轻度。本研究的结果可作为在其他国家实施家庭 ERT 的基础，并进一步优化患者护理，因为未报告的轻度症状不会对健康构成风险，但仍可能与患者相关。
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