Galactose Supplementation for the Treatment of Patients With Mild Malformation of Cortical Development With Oligodendroglial Hyperplasia in Epilepsy (MOGHE): a Pilot Trial
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 8
- 试验地点
- 2
- 主要终点
- Seizure frequency
研究概览
简要总结
Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a new entity frequently associated with refractory epilepsy and neurodevelopmental disorders. Recently, it has been associated to SLC35A2 (Solute Carrier Family 35 Member A2) brain mosaic pathogenic variants. In addition, patients with germline SLC35A2 pathogenic variants improve with galactose supplementation. Therefore, the investigators aim to elucidate whether d-galactose as an add-on treatment might improve epilepsy and developmental outcomes in patients with MOGHE.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Treatment
- 盲法
- None
入排标准
- 年龄范围
- 2 Years 至 20 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •MOGHE diagnosis at histopathological examination of the epilepsy surgery tissue.
- •Epilepsy refractoriness or ongoing epileptiform activity at EEG.
排除标准
- •Allergy to galactose or supplement components.
结局指标
主要结局
Seizure frequency
时间窗: 6 months
Seizure diary
Epileptiform activity at EEG
时间窗: 6 months
Epileptiform activity quantification (per epoch)
次要结局
- Behavioral assessment(6 months)
- Cognitive assessment(6 months)
研究者
Angel Aledo-Serrano
Principal Investigator
Hospital Ruber Internacional