跳至主要内容
临床试验/NCT00763191
NCT00763191终止不适用

Analysis of Oculo-motor Deficiencies Associated With FMR1 Gene Expression (Genetic Abnormality Predisposing to a Neurodegenerative Disease)

Nantes University Hospital2 个研究点 分布在 1 个国家目标入组 27 人开始时间: 2008年6月1日最近更新:
适应症

试验速览

阶段
不适用
状态
终止
入组人数
27
试验地点
2
主要终点
Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients without FMR1 pre-mutation

研究概览

简要总结

The specific aim of this study is to compare ocular movements abnormalities between males with pre-mutation on FRM1 gene (symptomatic or asymptomatic on the motor plan and/or on the cognitive plan), males without the pre-mutation and males with multi-systematized atrophy, in order to identify the neuronal structures implicated in this pathology.

详细描述

Patient will be followed at the Nantes hospital during half a day for :

  • examination of ocular movements
  • performing Neuro-psychological test (MATTIS)
  • performing tests with scales of motricity (UPDRS, CRST, ICARS).

研究设计

研究类型
Interventional
分配方式
Non Randomized
干预模型
Single Group
主要目的
Health Services Research
盲法
None

入排标准

年龄范围
18 Years 至 50 Years(Adult)
性别
Male
接受健康志愿者

入选标准

  • FOR PATIENTS WITH PREMUTATION ON FMR1 GENE (30 patients expected):
  • Inclusion criteria:
  • > or equal to 50 years old
  • Ally second or third degree with a child affected of "fragile X"
  • Not living far from Nantes so that visits to the Nantes hospital can be easy
  • Pre-mutation on FMR1 gene
  • Signed informed consent

排除标准

  • <50 years old
  • visual acuteness < 1/10
  • MATTIS dementia scale <100 (normal:144)
  • Occurrence, shown by MRI (Magnetic Resonance Imaging), of a pathology either ischemic vascular or hemorrhagic or tumoral
  • FOR PATIENTS WITHOUT PRE-MUTATION ON FMR1 GENE (10 patients expected):
  • Inclusion criteria:
  • > or equal to 50 years old
  • Ally second or third degree with a child affected of "fragile X"
  • Not living far from Nantes so that visits to the Nantes hospital can be easy - Signed informed consent
  • Exclusion criteria:
  • <50 years old
  • visual acuteness < 1/10
  • MATTIS dementia scale <100 (normal:144)
  • Pre-mutation on FMR1 gene
  • Occurrence, shown by MRI, of a pathology either ischemic vascular or hemorrhagic or tumoral
  • FOR PATIENTS WITH MULTI-SYSTEMATIZED ATROPHY (10 patients expected):
  • Inclusion criteria:
  • > or equal to 50 years old
  • Not living far from Nantes so that visits to the Nantes hospital can be easy
  • "probable" diagnosis of multi-systematized atrophy
  • Signed informed consent
  • Exclusion Criteria:
  • <50 years old
  • visual acuteness < 1/10
  • MATTIS dementia scale <100 (normal:144)
  • Occurrence, shown by MRI, of a pathology either ischemic vascular or hemorrhagic or tumoral

结局指标

主要结局

Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients without FMR1 pre-mutation

次要结局

  • Comparison of the oculo-motricity of patients with FMR1 pre-mutation with the oculo-motricity of patients with multi-systematized atrophy
  • Analysis of the correlation between the genotype (number of CGG repetition) and the phenotype.
  • For subjects with FMR1 pre-mutation, comparison of the neuro-psychological test results to the oculo-motor abnormalities.

研究者

申办方类型
Other
责任方
Sponsor

研究点 (2)

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