Cognitive Disorders and Metabolism in 18-FDG- PET in Hereditary Spastic Paraplegia Type 4 (SPG4)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 30
- 试验地点
- 1
- 主要终点
- cognitive testing
研究概览
简要总结
Hereditary spastic paraplegia type 4 is the most frequent mutation of hereditary spastic paraplegias. It is commonly described as pure, with progressive weakness of the lower limbs, pyramidal syndrome and vesico-sphincter disorders. However, cognitive disorders have been reported for over 20 years, but remain poorly characterized.
详细描述
Our primary objective is to describe a pattern of cognitive impairment in Hereditary Spastic Paraplegia type 4 using 18-FDG-PET metabolic imaging.
As secondary objectives, we wish to study the presence of correlations between neuropsychological tests, clinical examination, 18-FDG-PET data and general and genetic data of the pathology. We also wish to investigate correlations between genotype and phenotype.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patient over 18 years of age, living in the Grand Est region (France)
- •Patient with a pathogenic or probably pathogenic variant (class 4 or 5) in the SPAST gene.
排除标准
- •dementia comorbidities or cognitive disorders unrelated to the pathology that may affect neuropsychological tests.
结局指标
主要结局
cognitive testing
时间窗: baseline
we use detailed neuropsychological tests (MoCA)
次要结局
- Correlations between neuropsychological tests, clinical examination, PET and general data.(baseline)
- Genotype/Phenotype correlations(baseline)
研究者
RENAUD Mathilde
Principal investigator
Central Hospital, Nancy, France