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Chinese PD-GBA Registry

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状态招聘中
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Xiangya Hospital of Central South University

关键词

抽象

The purpose of the Chinese Parkinson's disease with GBA variants Registry (CPD-GBAR) is to develop a database of patients of Parkinson's disease with Glucocerebrosidase (GBA) gene variants in mainland China.

描述

Parkinson's disease (PD) is the second most common disorder among neurodegenerative diseases. GBA gene variants such as L444P can influence the risk of developing PD and these variants have the greatest impact on PD susceptibility among all the PD related gene variants yet discovered. The investigators aim to establish a database of PD with GBA variants and characterize the clinical manifestation of these patients in mainland China.

Method:

1. Peripheral blood from patients has been tested to have GBA 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.

日期

最后验证: 03/31/2018
首次提交: 04/30/2018
提交的预估入学人数: 04/30/2018
首次发布: 05/13/2018
上次提交的更新: 05/23/2018
最近更新发布: 05/28/2018
实际学习开始日期: 01/31/2017
预计主要完成日期: 01/31/2027
预计完成日期: 01/31/2027

状况或疾病

Parkinson Disease

-

资格标准

有资格学习的性别All
取样方式Non-Probability Sample
接受健康志愿者
标准

Inclusion Criteria:

- 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 GBA gene variants.

Exclusion Criteria:

-

结果

主要结果指标

1. Database of Parkinson's disease with GBA variants [10 years]

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

2. Clinical feature [10 years]

Characterize the clinical feature of PD patients with GBA variants

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