跳至主要内容
临床试验/NCT05430763
NCT05430763撤回不适用

Motor Deficits and Signal Conduction in Individuals With Williams Syndrome

Sheba Medical Center1 个研究点 分布在 1 个国家开始时间: 2023年2月最近更新:
适应症

试验速览

阶段
不适用
状态
撤回
试验地点
1
主要终点
Nerve conduction test - Amplitude

研究概览

简要总结

The current study aims to validate basic research findings of abnormal conductivity and motor abilities from a mouse model in humans. The study will measure nerve conduction properties in WS individuals and characterize motor symptoms in individuals with WS.

详细描述

50 individuals with WS will take part in the study. All participants will be recruited from the Williams Syndrome Clinic at Edmond and Lili Safra Children's Hospital, Sheba Medical Center directed by Prof. Doron Gothelf, MD, that coordinates treatment and research of WS in Israel. 20 control age-matched subjects will be recruited as well. A Motor Questionnaire, designed especially for this study will be filled by parents. It includes questions about gross motor, fine motor, gait and coordination characteristics of the children (Bellugi, Bihrle et al. 1990, Wilson, Kaplan et al. 2000, Wilson, Crawford et al. 2009) (General references regarding motor abilities and health).

In addition, participants will undergo the following assessments at the neuromuscular clinic and at the movement laboratory, Sheba Medical Center in collaboration with Dr. Amir Dori, Dr. Uri Givon and Dr. Meir Plotnik: (1) nerve conduction study (2) nerve ultrasound (3) neurological assessments (4) GAITRite walkway for gait analysis (5) 3-D motion analysis.

研究设计

研究类型
Observational
观察模型
Case Control
时间视角
Prospective

入排标准

年龄范围
3 Years 至 30 Years(Child, Adult)
性别
All
接受健康志愿者

入选标准

  • WS patients.

排除标准

  • WS patients suffering from additional neurological condition (such as epilepsy).
  • Participants who will have difficulties preforming the tests may ask to be excluded.

结局指标

主要结局

Nerve conduction test - Amplitude

时间窗: 30 days

This test's amplitude outcome present a nerve conduction property that can indicate aberrations in signal conduction.

Nerve conduction test - Latency

时间窗: 30 days

This test's latency outcome present a nerve conduction property that can indicate aberrations in signal conduction.

次要结局

未报告次要终点

研究者

申办方类型
Other Gov
责任方
Sponsor

研究点 (1)

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