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Decoding Presymptomatic White Matter Changes in Huntington Disease

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赞助商
Institut National de la Santé Et de la Recherche Médicale, France
合作者
University College, London

关键词

抽象

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:
1. Imaging criteria
2. Clinical and neurological criteria
3. Psychological criteria
4. Behavioral criteria

日期

最后验证: 01/31/2020
首次提交: 06/12/2017
提交的预估入学人数: 06/18/2017
首次发布: 06/19/2017
上次提交的更新: 02/16/2020
最近更新发布: 02/17/2020
实际学习开始日期: 07/10/2017
预计主要完成日期: 12/29/2019
预计完成日期: 12/29/2019

状况或疾病

Huntington Disease
White Matter Alterations

干预/治疗

Other: Brain imaging

Other: Neurological assessments

Behavioral: Psychological assessments

Behavioral: Behavioural assessments

-

手臂组

干预/治疗
Other: Premanifest HTT mutation carriers
Other: non HTT mutation carriers

资格标准

有资格学习的年龄 18 Years 至 18 Years
有资格学习的性别All
接受健康志愿者
标准

Inclusion Criteria:

- 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

结果

主要结果指标

1. 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 [one year]

次要成果指标

1. Detection by Diffusion-weighted spectroscopy of abnormal white matter changes over one year as an intersubject evolution [one year]

2. 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]

3. Detection by Diffusion Tensor Imaging white matter changes over one year as an intersubject evolution. [one year]

4. Detection of abnormal scores from psychological tests to assess possible early non motor changes and their intersubject evolution over one year. [one year]

5. 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]

6. Detection of time differences in the behavioral task comparing HTT mutation carriers and non HTT mutation carriers over one year. [one year]

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