Study of a Large Family With Congenital Mirror Movements : From Underlying Pathophysiology to Culprit Gene Identification : MOMIC
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 40
- 试验地点
- 2
- 主要终点
- - To unravel the pathophysiology of congenital mirror movements - To identify a locus and candidate genes associated with CMM
研究概览
简要总结
Mirror movements are involuntary, symmetrical and simultaneous movements occurring on one side of the body that accompany controlateral voluntary movements. Congenital mirror movements (CMM) are characterized by childhood onset and the absence of additional manifestations. The aim of this study is to unravel the pathophysiology of the CMM that remains poorly elucidated. The combination of imaging studies and neurophysiological studies using transcranial magnetic stimulation in a homogeneous and relatively large group of patient is likely to allow us to better understand the underlying pathophysiology of the disorder. Using a linkage analysis approach we will try to identify a locus associated with CMM and related candidate genes.
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Basic Science
- 盲法
- None
入排标准
- 年龄范围
- 11 Years 至 82 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patients aged from 11 to 82 years
- •Members of the family of interest displaying mirror movements or being obligatory asymptomatic carrier, without additional manifestation or malformation; or patient with genetically proven Kallmann syndrome and mirror movements.
- •No contraindication for MRI or TMS study
排除标准
- •inability to provide an informed consent
- •Simultaneous participation in another clinical trial
- •Treatment that modulate cortical excitability (for the TMS part of the study only)
结局指标
主要结局
- To unravel the pathophysiology of congenital mirror movements - To identify a locus and candidate genes associated with CMM
时间窗: 08/2011
次要结局
- - To study patients with Kallmann syndrome and associated MM based on the same methods and hypothesis(08/2011)