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临床试验/NCT04668898
NCT04668898已完成不适用

Dissecting Oligogenic Biomarkers in Ashkenazi Jews With Parkinson's Disease

Icahn School of Medicine at Mount Sinai1 个研究点 分布在 1 个国家目标入组 203 人开始时间: 2019年4月1日最近更新:
适应症

试验速览

阶段
不适用
状态
已完成
入组人数
203
试验地点
1
主要终点
Elucidate blood-based genetic biomarkers in Parkinson's disease

研究概览

简要总结

Single site observational study focused on elucidating the genes and biochemical pathways involved in causing Parkinson disease.

详细描述

This single site study, is enrolling Parkinson disease (PD) patients and their family members and is limited to participants of Ashkenazi (Eastern European) Jewish descent with GBA and LRRK2 mutations, or with 3 or more family members with PD. Follow-up will be for three years. Participants must be in the New York City area yearly and willing to come to Mount Sinai Downtown for yearly 2 hour study visits which include obtaining personal medical and family history information, blood, urine and spinal fluid samples, neurological exam and neuropsychiatric testing. De-identified data and samples will be securely stored at a central NIH-run repository for access by other researchers. Spinal fluid collection is encouraged but optional.

研究设计

研究类型
Observational
观察模型
Case Control
时间视角
Other

入排标准

年龄范围
30 Years 至 —(Adult, Older Adult)
性别
All
接受健康志愿者

入选标准

  • Parkinson disease patients and their family members and is limited to participants of Ashkenazi (Eastern European) Jewish descent with GBA and LRRK2 mutations, or with 3 or more family members with PD
  • Participants must be local to the New York City area and willing to come to Mount Sinai Downtown for annual 2 hour study visits which include obtaining personal medical and family history information, blood, urine and spinal fluid samples, neurological exam and neuropsychiatric testing. Spinal fluid collection is encouraged but optional.

排除标准

  • Patients who do not have Parkinson disease or family members of Ashkenazi (Eastern European) Jewish descent who either has a GBA or LRRK2 mutations OR who has 3 or more family members with PD.

结局指标

主要结局

Elucidate blood-based genetic biomarkers in Parkinson's disease

时间窗: five years

Discovery and validation of new blood-based genetic biomarkers (both DNA and expression-based) for Parkinson's disease

次要结局

未报告次要终点

研究者

申办方类型
Other
责任方
Principal Investigator
主要研究者

Rachel Saunders-Pullman

Professor, Neurology

Icahn School of Medicine at Mount Sinai

研究点 (1)

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