Department of Neurology, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC - Sophia Children's Hospital, University Medical Center Rotterdam, the Netherlands.
Neuromuscul Disord. 2020 Jan;30(1):59-66. doi: 10.1016/j.nmd.2019.11.007. Epub 2019 Nov 22.
Enzyme replacement therapy for Pompe disease received market authorization in 2006. To implement this costly treatment in the Netherlands in the most sensible way, a multidisciplinary expert committee was installed. We evaluated decision making in adult patients in relation to the European POmpe Consortium stop criteria. Of 125 adult Pompe patients, 111 started treatment; subsequently treatment stopped in 24 patients (21%). In 10 patients, treatment was discontinued for medical or personal reasons, as defined in the six stop criteria (median treatment duration: 2.1 years, range: 0.3-14.6 years). Three of these patients continued follow-up (follow-up: 1.3-8.0 years), these patients did not display a more rapid decline after discontinuation. In 14 of 24 patients, therapy ended at time of death. In 10 patients death was related to Pompe disease (median treatment duration: 7.2 years, range: 0.4-10.3 years). All 10 patients were severely affected at start of treatment, treatment had elicited positive effects in eight. The European POmpe Consortium guidelines worked well in decision making on stopping treatment. However, (re)evaluation of the rationale for continuation of treatment in advanced disease stage is not addressed. We suggest to add this to the treatment evaluation and to handle treatment decisions in a multidisciplinary expert team.
2006 年，用于庞贝病的酶替代疗法获得市场批准。为了在荷兰以最合理的方式实施这种昂贵的治疗方法，成立了一个多学科专家委员会。我们根据欧洲庞贝病联合会停止标准评估了成年患者的决策。在 125 名成年庞贝病患者中，有 111 名开始接受治疗；随后，24 名患者（21%）停止治疗。在 10 名患者中，根据六项停止标准（中位治疗持续时间：2.1 年，范围：0.3-14.6 年），因医疗或个人原因停止治疗。这 10 名患者中有 3 名继续接受随访（随访时间：1.3-8.0 年），这些患者在停止治疗后并未出现更快的下降。在 24 名患者中的 14 名，治疗在死亡时结束。在 10 名患者中，死亡与庞贝病有关（中位治疗持续时间：7.2 年，范围：0.4-10.3 年）。所有患者在开始治疗时均已处于严重阶段，其中 8 名患者的治疗产生了积极效果。欧洲庞贝病联合会指南在停止治疗的决策中发挥了良好作用。然而，（重新）评估在晚期疾病阶段继续治疗的理由并未得到解决。我们建议将这一点纳入治疗评估，并在多学科专家团队中处理治疗决策。
