Chinese PD-GBA Registry

Overview

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.

Full Title of Study: “The Chinese Parkinson’s Disease With GBA Variants Registry”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: February 1, 2027

Detailed Description

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.

Clinical Trial Outcome Measures

Primary Measures

  • Database of Parkinson’s disease with GBA variants
    • Time Frame: 10 years
    • Establish the database of Parkinson’s disease with GBA variants in mainland China.
  • Clinical feature
    • Time Frame: 10 years
    • Characterize the clinical feature of PD patients with GBA variants

Participating in This Clinical Trial

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:

-

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Xiangya Hospital of Central South University
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Contact(s)
    • Jifeng Guo, Ph.D., +8613974936815, guojifeng2003@163.com

References

Zhang Y, Shu L, Sun Q, Zhou X, Pan H, Guo J, Tang B. Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis. Front Mol Neurosci. 2018 Feb 15;11:43. doi: 10.3389/fnmol.2018.00043. eCollection 2018.

Citations Reporting on Results

Sun QY, Guo JF, Wang L, Yu RH, Zuo X, Yao LY, Pan Q, Xia K, Tang BS. Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population. Mov Disord. 2010 Jun 15;25(8):1005-11. doi: 10.1002/mds.23009.

Guo JF, Li K, Yu RL, Sun QY, Wang L, Yao LY, Hu YC, Lv ZY, Luo LZ, Shen L, Jiang H, Yan XX, Pan Q, Xia K, Tang BS. Polygenic determinants of Parkinson's disease in a Chinese population. Neurobiol Aging. 2015 Apr;36(4):1765.e1-1765.e6. doi: 10.1016/j.neurobiolaging.2014.12.030. Epub 2015 Jan 6.

Zhang Y, Sun QY, Zhao YW, Shu L, Guo JF, Xu Q, Yan XX, Tang BS. Effect of GBA Mutations on Phenotype of Parkinson's Disease: A Study on Chinese Population and a Meta-Analysis. Parkinsons Dis. 2015;2015:916971. doi: 10.1155/2015/916971. Epub 2015 Sep 2.

Fan K, Tang BS, Wang YQ, Kang JF, Li K, Liu ZH, Sun QY, Xu Q, Yan XX, Guo JF. The GBA, DYRK1A and MS4A6A polymorphisms influence the age at onset of Chinese Parkinson patients. Neurosci Lett. 2016 May 16;621:133-136. doi: 10.1016/j.neulet.2016.04.014. Epub 2016 Apr 13.

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