OBSERVE: Biomarkers in Individuals at Risk for Prion Disease
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 150
- 试验地点
- 2
- 主要终点
- CSF YKL40
研究概览
简要总结
We are doing this research to identify biomarkers in individuals who are at-risk for familial prion disease. We hope to use these biomarkers to predict timing of disease onset in pre-symptomatic individuals and to guide the direction of future clinical trials.
详细描述
This study aims to measure biomarkers longitudinally in individuals at risk of developing genetic prion disease to identify clinical assays and molecular markers that: can inform our understanding of pre-clinical pathology, predict timing of disease onset in pre-symptomatic individuals, and enable development and evaluation of novel treatment efficacy in pre-symptomatic or early symptomatic individuals.
Participation in the study involves annual visits to the clinic site in Charlestown, MA. Study visits include: a medical exam, blood draws, cognitive tests and questionnaires, and spinal fluid collection.
Travel support and stipend is provided for interested individuals.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 85 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Aged 18 - 85,
- •One of the following:
- •a. Known carrier of pathogenic PRNP mutation
- •b. History of probable or definite prion disease in biological parent and other family members
- •c. Non-carrier family members and/or unrelated previously enrolled negative control volunteers
- •Medically safe to undergo blood draw, lumbar puncture and cognitive testing,
- •Adequate visual and auditory acuity to complete cognitive testing,
- •Fluent in English,
- •At least 5 years of education,
- •Capable of providing informed consent and following study procedures,
排除标准
- •Any CNS disease other than asymptomatic or early prion disease, such as clinical stroke, brain tumor, multiple sclerosis, significant head trauma with persistent neurological or neurocognitive deficits, Alzheimer's disease, Parkinson's disease, frontotemporal lobar degeneration or other known neurodegenerative disease,
- •History of alcohol or other substance abuse or dependence within the past two years,
- •Any significant systemic illness or unstable medical condition or pregnancy that could represent safety risk or affect participation in the study,
- •Coagulopathy or anti-coagulant therapy (such as Coumadin) increasing the risk for phlebotomy or lumbar puncture resulting in PT/PTT and INR within 1.5 standard deviation over the upper normal limit.
研究组 & 干预措施
Individuals with a family history of Prion disease
Individuals with a family history of Prion disease
结局指标
主要结局
CSF YKL40
时间窗: 1 year
Levels of YKL40
Cognition
时间窗: 1 year
NIH Toolbox measures of cognition
CSF Prion protein
时间窗: 1 year
Levels of Prion protein
CSF Nfl
时间窗: 1 year
Levels of Nfl
CSF GFAP
时间窗: 1 year
Levels of GFAP
CSF Tau
时间窗: 1 year
Levels of Tau
CSF Prion biomarkers
时间窗: 1 year
RT-QuIC levels
次要结局
未报告次要终点
研究者
Steven E Arnold, MD
Professor of Neurology
Massachusetts General Hospital