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临床试验/NCT03523104
NCT03523104招募中不适用

The Chinese Parkinson's Disease With LRRK2 Variants Registry

Xiangya Hospital of Central South University1 个研究点 分布在 1 个国家目标入组 1,000 人开始时间: 2017年2月1日最近更新:
适应症

试验速览

阶段
不适用
状态
招募中
发起方
入组人数
1,000
试验地点
1
主要终点
Clinical feature

研究概览

简要总结

The purpose of the Chinese PD-LRRK2 Registry(CPD-LRRK2R) is to develop a database of patients of Parkinson's disease with leucine-rich repeat kinase 2 (LRRK2) gene variants in mainland China.

详细描述

Parkinson's disease (PD) is the second most common disorder among neurodegenerative diseases. LRRK2 missense mutations are the most common known genetic cause of PD. However, some polymorphisms of LRRK2 such as G2385R and R1628P can also affect the risk of developing PD. The investigators aim to establish a database of PD with LRRK2 variants and characterize the clinical manifestation of these patients in mainland China.

Method:

  1. Peripheral blood from patients has been tested to have LRRK2 gene variants.
  2. 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).
  3. 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

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 LRRK2 variants

排除标准

  • 未提供

结局指标

主要结局

Clinical feature

时间窗: 10 years

Characterize the clinical feature in patients of Parkinson's disease with LRRK2 variants

Database of Parkinson's disease with LRRK2 variants

时间窗: 10 years

Establish the database of Parkinson's disease with LRRK2 variants in mainland China.

次要结局

未报告次要终点

研究者

发起方
Xiangya Hospital of Central South University
申办方类型
Other
责任方
Sponsor

研究点 (1)

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