The Chinese Parkinson's Disease With SNCA Variants Registry
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 3,000
- 试验地点
- 1
- 主要终点
- Database of Parkinson's disease with SNCA variants
研究概览
简要总结
The purpose of the Chinese PD-SNCA Registry(CPD-SNCAR) is to develop a database of patients of Parkinson's disease with a-synuclein (SNCA) gene variants in mainland China.
详细描述
Parkinson's disease (PD) is the second most common disorder among neurodegenerative diseases. SNCA is the first gene implicated in monogenic parkinsonism. However, some polymorphisms of SNCA gene such as rs894278 and rs11931074 can affect the risk of sporadic PD. The investigators aim to establish a database of PD with SNCA variants and characterize the clinical manifestation of these patients in mainland China.
Method:
- Peripheral blood from patients has been tested to have SNCA gene variants.
- Clinical manifestation will be measured by scales and neurological tests. Standard scales include: Unified Parkinson's Disease Rating Scale(UPDRS), Hoehn-Yahr stages, Non-Motor Symptoms Scale (NMSS), mini-mental state examination (MMSE), Parkinson disease sleep scales (PDSS), Rapid Eye Movement Sleep Behaviour Disorder Questionnaire(RBDQ-HK), Epworth Sleepiness Scale (ESS), Rome III functional constipation scale, the Scale for Outcomes in PD for Autonomic Symptoms (SCOPA-AUT), Parkinson Fatigue Scale (PFS), Cambridge-Hopkins Restless Legs Syndrome questionnaire (CHRLSq), Hyposmia rating scale(HRS), Hamilton depression scale, the 39-item Parkinson's Disease Questionnaire(PDQ-39), Freezing of gait scale(FOG), dyskinesia related scales, Wearing-off scale(WO).
- The investigators will also exam the blood biomarkers of PD such as uric acid and peripheral inflammatory markers.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients diagnosed with PD by the United Kingdom Parkinson's Disease Society Brain Bank clinical diagnostic criteria or other standard criteria; PD patients detected with positive SNCA variants
排除标准
- 未提供
结局指标
主要结局
Database of Parkinson's disease with SNCA variants
时间窗: 10 years
Establish the database of Parkinson's disease with SNCA variants in mainland China.
Clinical feature
时间窗: 10 years
Characterize the clinical feature in patients of Parkinson's disease with SNCA variants
次要结局
未报告次要终点
