Parkinson's Foundation PD GENEration Genetic Registry
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 35,382
- 试验地点
- 125
- 主要终点
- Educating people with Parkinson's of their genetic mutation status through genetic testing and counseling
研究概览
简要总结
Development of a central repository for PD-related genomic data for future research.
详细描述
The purpose of this study is to develop a central repository for PD-related genomic data by individuals who consent to deposit their data and bank their residual DNA obtained through clinical genetic testing for future research use.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Study Population 1: PWP (open for recruitment)
- •Meet Movement Disorder Society (MDS) Clinical Diagnostic Criteria for Parkinson's Disease: probable diagnosis.
- •Willingness to undergo genetic testing, and choose to be informed of genetic testing results for GBA, LRRK2 and 5 additional PD related genes (SNCA, VPS35, PRKN, PINK-1, PARK7).
- •Capacity to give full informed consent in writing or electronically, and have read and signed the informed consent forms (ICFs) based on site clinician's determination.
- •Able to perform study activities (including completion of either online, in-person or paper surveys).
- •Study Population 2: People at risk of developing PD (not open for recruitment)
- •1. Family members of Study Population 1 may be invited to participate in the study if confirmatory genetic testing is deemed necessary by the genetic testing laboratory.
排除标准
- •Diagnosis of an atypical parkinsonian disorder (i.e., multiple system atrophy, progressive supranuclear palsy, dementia with Lewy bodies, corticobasal syndrome), including that due to medications, metabolic disorders, encephalitis, cerebrovascular disease, or normal pressure hydrocephalus.
- •Individuals who have received a blood transfusion within the past 3 months.
- •Individuals who have active hematologic malignancies such as lymphoma or leukemia.
- •Individuals who have had a bone marrow transplant within the past 5 years.
- •Under the age of 18
结局指标
主要结局
Educating people with Parkinson's of their genetic mutation status through genetic testing and counseling
时间窗: 6 months
People who are informed of their genetic status may be empowered to learn more about their disease and participant in clinical research.
Prevalence of Parkinson's related genetic mutations in an convenience cohort
时间窗: 6 months
Identify people with Parkinson's who have genetic mutations to advance basic science and clinical research.
次要结局
未报告次要终点