NCT00763191终止不适用
Analysis of Oculo-motor Deficiencies Associated With FMR1 Gene Expression (Genetic Abnormality Predisposing to a Neurodegenerative Disease)
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
- 否
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
研究点 (2)
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