Decoding Presymptomatic White Matter Changes in Huntington Disease
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 60
- 试验地点
- 1
- 主要终点
- Detection by Diffusion-weighted spectroscopy of abnormal white matter changes prior to the onset of Huntington disease comparing HTT mutation carriers and non HTT mutation carriers over one year
研究概览
简要总结
WIN-HD is a monocentric longitudinal study comparing premanifest Huntingtin (HTT) mutation carriers and non HTT mutation carriers to determine that white-matter atrophy occurs far earlier than clinical onset in HD using Diffusion-weighted Nuclear Magnetic Resonance (N spectroscopy (DWS) and Diffusion Tensor Imaging (DTI).
The investigators will recruit up to 20 premanifest HTT mutation carriers (15 completed) and up to 20 non HTT mutation carriers (15 completed). It is important to have those 2 populations in order to compare our results and determine if there are significant white-matter changes far from the onset of HD. Therefore, non HTT mutation carriers will be age and gender matched to premanifest HTT mutation carriers.
In order to test the hypothesis, the study has 2 visits with a year interval.
This study is based on 4 principal criteria:
- Imaging criteria
- Clinical and neurological criteria
- Psychological criteria
- Behavioral criteria
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •For presymptomatic individuals:
- •Genetic test available with CAG (Cytosine-Adenine-Guanine) repeat length > 36 in HTT gene
- •UHDRS score <5
- •Burden score <250
- •For controls:
- •Genetic test available with CAG repeat length ≤ 36 in HTT gene
- •Common inclusion criteria for presymptomatic individuals and controls (age-matched and gender-matched with presymptomatic individuals and but without any familial relationship):
- •At least 18 years of age
- •Capacity to consent
- •Signature of the informed consent
- •Covered by social security
- •Ability to undergo MRI scanning
- •Non-Inclusion Criteria:
- •Under the age of 18 years of age
- •Contra-indications to MRI examination (metallic implant, pacemaker, artificial heart valve, brain vascular malformation, aneurysm clips, exposed by metallic fragments, artificial implants, peripheral or neuronal stimulator, insulin pump, intravenous catheter, epilepsy, person with an history of seizure, metallic contraceptive device, permanent eyelid make up, claustrophobia,...)
- •Unwillingness to be informed in case of abnormal MRI (with a significant medical anomaly)
- •History of severe head injury
- •History of neurological disorder or presence of neurological disorder
- •Participation in a drug trial or exclusion period of another study
- •Pregnancy or breastfeeding
- •Inability to understand information about the protocol
- •Person deprived of their liberty by judicial or administrative decision
- •Person under legal protection (legal guardianship, tutelage or maintenance of justice)
- •Person without any protection and unable to consent
排除标准
- 未提供
研究组 & 干预措施
Premanifest HTT mutation carriers
干预措施: Behavioural assessments (Behavioral)
non HTT mutation carriers
干预措施: Brain imaging (Other)
non HTT mutation carriers
干预措施: Neurological assessments (Other)
Premanifest HTT mutation carriers
干预措施: Brain imaging (Other)
Premanifest HTT mutation carriers
干预措施: Neurological assessments (Other)
Premanifest HTT mutation carriers
干预措施: Psychological assessments (Behavioral)
non HTT mutation carriers
干预措施: Psychological assessments (Behavioral)
non HTT mutation carriers
干预措施: Behavioural assessments (Behavioral)
结局指标
主要结局
Detection by Diffusion-weighted spectroscopy of abnormal white matter changes prior to the onset of Huntington disease comparing HTT mutation carriers and non HTT mutation carriers over one year
时间窗: one year
次要结局
- Detection by Diffusion Tensor Imaging white matter changes over one year as an intersubject evolution.(one year)
- Detection of abnormal scores from psychological tests to assess possible early non motor changes and their intersubject evolution over one year.(one year)
- Detection of choice rates and time differences in the behavioral task comparing HTT mutation carriers and non HTT mutation carriers over one year.(one year)
- Detection by Diffusion-weighted spectroscopy of abnormal white matter changes over one year as an intersubject evolution(one year)
- Detection by Diffusion Tensor Imaging of abnormal white matter changes prior to the onset of Huntington disease comparing HTT mutation carriers and non HTT mutation carriers over one year.(one year)
- Detection of time differences in the behavioral task comparing HTT mutation carriers and non HTT mutation carriers over one year.(one year)