Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
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DOI：
10.1007/s10545-014-9686-7
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发表时间：
2014-09-01
影响因子：
4.2
通讯作者：
Mendelsohn, Nancy J.
中科院分区：
文献类型：
--
作者：
Lampe, Christina;Bosserhoff, Ann-Kathrin;Mendelsohn, Nancy J.
引言尚无已发表的临床试验数据可用于指导在患有粘多糖病II（MPS II）重度（神经病性）表型的患者中使用酶替代疗法（ERT）。目前的指南建议ERT静脉给药的基础上使用的试验在此population.Aims/方法的一个回顾性图表审查进行了5个国际中心的22例神经性MPS II谁接受静脉艾度硫酸酯酶0.5 mg/kg每周至少连续2年的情况下，一系列。我们收集了有关尿糖胺聚糖水平、不良事件和以下躯体体征/症状的数据：骨骼疾病、关节活动度、肝/脾大小、呼吸道感染、心脏疾病、腹泻、皮肤/毛发纹理和住院率。结果诊断时的年龄为2个月至5岁，开始使用艾度硫酸酯酶的年龄为18个月至21岁。22例患者中有1例患者的7种躯体体征/症状得到改善; 17/22例患者的5 - 6种躯体体征/症状得到改善; 4/22例患者的4种躯体体征/症状得到改善。没有一个人的进步少于四次。未出现新的安全性问题。输注相关的反应，经历了4/22例患者，但成功地管理使用公认的strategy.Conclusions长期治疗艾度硫酸酯酶与改善躯体表现，在这种情况下，神经性MPS II患者系列。家庭和医疗团队应保持开放的沟通渠道，以做出考虑ERT在该人群中的获益和局限性的治疗决定。
Introduction No published clinical trial data are available to inform the use of enzyme replacement therapy (ERT) in patients with the severe (neuropathic) phenotype of mucopolysaccharidosis II (MPS II). Current guidelines recommend ERT administered intravenously be used on a trial basis in this population.Aims/Methods A retrospective chart review was conducted at five international centers for this case series of 22 patients with neuropathic MPS II who received intravenous idursulfase 0.5 mg/kg weekly for at least 2 consecutive years. We collected data about urinary glycosaminoglycan levels, adverse events, and the following somatic signs/symptoms: skeletal disease, joint range of motion, liver/spleen size, respiratory infections, cardiac disease, diarrhea, skin/hair texture, and hospitalizations.Results The age at diagnosis was 2 months to 5 years, and the age at idursulfase initiation was between 18 months and 21 years. One of 22 patients experienced improvements in seven somatic signs/symptoms; 17/22 experienced improvements in five to six somatic signs/symptoms; and 4/22 experienced improvements in four somatic signs/symptoms. None experienced fewer than four improvements. No new safety concerns arose. Infusion-related reactions were experienced by 4/22 patients but were successfully managed using accepted strategies.Conclusions Long-term treatment with idursulfase was associated with improvements in somatic manifestations in this case series of patients with neuropathic MPS II. The family and medical team should maintain open lines of communication to make treatment decisions that take into consideration the benefits and limitations of ERT in this population.