Longitudinal Evaluation of Familial Frontotemporal Dementia Subjects
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- Mayo Clinic
- 入组人数
- 398
- 试验地点
- 8
- 主要终点
- Rate of decline in traditional measures of clinical (neuropsychological and behavioral composites) function and cortical volume on structural MRI in the symptomatic phase of familial FTD
研究概览
简要总结
This study is being done to learn more about normal thinking and behavior, mild thinking and behavior problems, Frontotemporal Dementia and other forms of dementia in families in which one or more relatives have a mutation associated with Frontotemporal Dementia.
详细描述
This multicenter study will enroll 300 members of familial Frontotemporal Dementia (FTD) families across 8 experienced FTD research centers with a known mutation in MAPT, PGRN, or C9ORF72 (100 mutation carriers with mild dementia or minimally symptomatic yet non-demented, 100 asymptomatic mutation carriers, and 100 clinically normal relatives who are non-mutation carriers) to obtain annual assessments including T1-MRI, FLAIR, diffusion tensor imaging (DTI), ASL perfusion (ASLp), intrinsic connectivity functional MRI (icfMRI), MR spectroscopy (MRS), CSF, blood, and behavioral, neuropsychological and functional assessment, for a total of three assessments per participant.
A primary goal of this study is to identify the most robust and reliable methods to track disease progression in familial FTD so that disease-modifying therapeutic trials can be designed appropriately.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 90 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Must be a member of family with a known mutation in one of the three major FTLD related genes: MAPT, PGRN, or C9ORF
- •At least 18 years of age.
- •The predominant phenotype in the kindred must be cognitive/behavioral (ie, kindreds in whom parkinsonism or ALS is the predominant clinical phenotype among affected relatives may be excluded)
- •Have a reliable informant who personally speaks with or sees that subject at least weekly.
- •Subject is sufficiently fluent in English to complete all measures
- •Subject must be willing and able to consent to the protocol and undergo yearly evaluations over 3 years.
- •Subject must be willing and able to undergo neuropsychological testing (at least at baseline visit).
- •Subject must have no contraindication to MRI imaging.
- •Exclusion Criteria
- •Known presence of a structural brain lesion (e.g. tumor, cortical infarct).
- •Presence of another neurologic disorder which could impact findings (eg, multiple sclerosis).
- •Subject is unwilling to return for follow-up yearly, undergo neuropsychological testing and MR imaging.
- •Subject has no reliable informant.
排除标准
- 未提供
结局指标
主要结局
Rate of decline in traditional measures of clinical (neuropsychological and behavioral composites) function and cortical volume on structural MRI in the symptomatic phase of familial FTD
时间窗: 5 years
neuropsychological, clinical/behavioral, neuroimaging measures
次要结局
- Rate of decline in traditional measures of clinical (neuropsychological and behavioral composites) function and cortical volume on structural MRI in the asymptomatic phase of familial FTD(5 years)
- Value of novel imaging and clinical measures for characterizing asymptomatic familial FTD subjects, and factors predicting clinical rates of progression in each group.(5 years)
- Genetic and biofluid factors that modify rates of clinical and neuroimaging decline in the asymptomatic and symptomatic phases of familial FTD.(5 years)
研究者
Bradley Boeve
Professor of Neurology
Mayo Clinic