Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex
Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex
复制标题
DOI：
10.1016/j.ejpn.2013.03.002
复制
发表时间：
2013-09-01
影响因子：
3.1
通讯作者：
Jozwiak, Sergiusz
中科院分区：
文献类型：
--
作者：
Kotulska, Katarzyna;Chmielewski, Dariusz;Jozwiak, Sergiusz
背景资料：多发性硬化症（TSC）是一种遗传性疾病，其特征是雷帕霉素（mTOR）激活的哺乳动物靶标增加和全身多个器官中良性肿瘤的生长。在患有TSC的幼儿中，耐药性癫痫和室管膜下巨细胞星形细胞瘤（SEGA）是最常见的死亡和发病原因。还有一些关于mTOR抑制剂在TSC中的抗癫痫和抗癫痫发生潜力的报道。然而，关于依维莫司在幼儿中的疗效和安全性的数据是非常有限的。目的：显示长期的安全性数据和依维莫司治疗对癫痫的影响，在3岁以下的儿童谁收到依维莫司SEGAs与TSC.Methods：我们提出的结果，依维莫司治疗8名3岁以下的儿童谁参加了EXIST-1研究。5例患者在基线时表现为活动性、耐药性癫痫。平均随访时间为35个月（33-38个月），所有儿童仍在治疗中。结果：在8名儿童中的6名中，观察到SEGA体积至少减少了50%。在1例耐药性癫痫儿童中，依维莫司治疗导致癫痫发作停止，在另外2例儿童中，癫痫发作次数至少减少50%。不良事件（AE）的发生率是相似的，在大龄儿童和adult.Conclusions：这项研究表明，依维莫司是有效和安全的婴幼儿癫痫和SEGA与TSC相关，并提供了一个有价值的治疗选择。(C)2013年欧洲儿科神经病学学会。由爱思唯尔有限公司出版。保留所有权利。
Background: Tuberous sclerosis complex (TSC) is a genetic disorder characterized by increased mammalian target of rapamycin (mTOR) activation and growth of benign tumors in several organs throughout the body. In young children with TSC, drug-resistant epilepsy and subependymal giant cell astrocytomas (SEGAs) present the most common causes of mortality and morbidity. There are also some reports on the antiepileptic and antiepileptogenic potential of mTOR inhibitors in TSC. However, the data on everolimus efficacy and safety in young children are very limited.Aims: To show the long-term safety data and the effect of everolimus treatment on epilepsy in children under the age of 3 who received everolimus for SEGAs associated with TSC.Methods: We present the results of everolimus treatment in 8 children under the age of 3 who participated in EXIST-1 study. Five patients presented with active, drug-resistant epilepsy at baseline. The mean follow-up is 35 months (33-38 months) and all children are still on treatment.Results: In 6 out of 8 children, at least a 50% reduction in SEGA volume was observed. In 1 child with drug-resistant epilepsy, everolimus treatment resulted in cessation of seizures and in 2 other children, at least a 50% reduction in the number of seizures was noted. The incidence of adverse events (AE) was similar to that observed in older children and adults.Conclusions: This study suggests that everolimus is effective and safe in infants and young children with epilepsy and SEGA associated with TSC and offers a valuable treatment option. (C) 2013 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.