MedPath

Multi-chip Meta-analysis of Parkinson's Disease for Clinical Validation of Small Samples of Key Genes in Disease

Completed
Conditions
Parkinson's Disease
Interventions
Diagnostic Test: genetic diagnosis
Registration Number
NCT03848455
Lead Sponsor
Zhujiang Hospital
Brief Summary

The research team used meta-analytical statistical methods to integrate the results of different research groups on Parkinson's disease, using meta-analysis to find key genes related to the pathogenesis and development of Parkinson's disease, and to make small clinical results. The verification of the sample, the internal mechanism of the pathogenesis of Parkinson's disease and provide guidance and reference for subsequent experimental research.

Detailed Description

Parkinson's disease (PD) is a relatively common degenerative disease of the central nervous system. As society gradually becomes aging, the number of PD patients is increasing, but its exact pathogenesis is still not fully understood. May be related to genetic factors, environmental factors, immunological abnormalities, mitochondrial dysfunction and oxidative stress, ageing, apoptosis and other factors; the current genetic diagnosis is in the ascendant, making the understanding of the etiology and pathogenesis of Parkinson's disease more In-depth, provide more basis and means for the pathogenesis and development of Parkinson's disease, but due to the number of individual samples, operational norms and platform differences, different research groups have great differences in the results of gene chip research on Parkinson's mechanism, resulting in the reliability is poor; In order to improve the credibility of the pathogenesis of Parkinson's disease and the development of genetic diagnosis, the investigators use the statistical means of meta-analysis to integrate the results of the chip research on Parkinson's disease in different research groups and find synaptic correlation function may be closely related to the development of Parkinson's disease, PPP2CA, PPP3CB, SYNJ1, NSF, CYCS genes may be key genes in the pathogenesis of Parkinson's disease, and the expression of these genes is related to the pathogenesis and development of PD patients. the investigators will conduct a small sample validation in the clinic to explore the intrinsic mechanism of Parkinson's disease and follow-up experimental research provides guidance and reference.

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
238
Inclusion Criteria
  • PD group:

    • Patients who meet the 2016 China Parkinson's diagnostic criteria and the 2015 International Parkinson's and Movement Disorders Association (MDS) Parkinson's disease diagnostic criteria
    • Newly diagnosed primary PD patients, diagnosed within 3-6 months
    • Informed consent to the study
    • Age > 18 older
  • Non-PD group:

    • Age, gender-matched PD group
    • Non-PD, non-PDS, non-neurological degenerative disease, patients without inflammatory disease and related family history
    • Informed consent to the study
    • Age > 18 older
Exclusion Criteria
  • Severe craniocerebral trauma patients
  • Disturbance of consciousness
  • Severe organic diseases, cerebral hemorrhage, cerebral thrombosis, severe coronary heart disease and lung disease, severe liver and kidney dysfunction, severe diabetes, severe hearing And visual impairment
  • History of severe brain tumors, encephalitis or brain surgery

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
Non-parkinson groupgenetic diagnosisNon-parkinson group inclusion criteria: age, gender-matched PD group, non-PD, non-PDS, non-neurological degenerative disease, patients without inflammatory disease and related family history; informed consent to the study; age \> 18 older.
Parkinson's disease groupgenetic diagnosis1. Patients who meet the 2016 China Parkinson's diagnostic criteria and the 2015 International Parkinson's and Movement Disorders Association (MDS) Parkinson's disease diagnostic criteria; 2. Newly diagnosed primary PD patients, diagnosed within 3-6 months; 3. informed consent to the study; 4. age \> 18 older.
Primary Outcome Measures
NameTimeMethod
Non-motor Symptom Scale (NMSS)2 days

Scoring based on the patient's own situation in the last month Severity: 1 = mild; 2 = moderate; 3 = severe Frequency: 1 = very little (less than once a week); 2 = often (1 time a week); 3 = frequent (a few times a week); 4 = very frequent (every day or persist)

Parkinson's Key Gene3 days

The blood of patients were taken for genetic testing and relative expression levels of the genes(These genes expression relative to a house keeping gene:GAPDH) for PPP2CA, PPP3CB, SYNJ1, NSF were extracted.The method we used is RT-PCR.

Unified Parkinson's Disease Rating Scale 3.0(UPDRS 3.0)2 days

The total score ranges from 0 to 199( minimum score is 0 and maximum scores is 199), in which a lower score denotes a better perception of the patient's.

Scoring the mental, behavioral and emotional, daily living activities, exercise tests, and drug treatment complications associated with UPDRS3.0 in patients with Parkinson's disease;each item 0-4 points, total score 199 points, 0-50 points: limb and body mild dysfunction, posture response normal;51-100 points: mild postural reaction disorder, self-care in daily life, loss of labor force;101-199: obvious postural reaction disorder, loss of daily life and labor force, may need help to get up and confined to wheelchair life;The more severe the symptoms of Parkinson's disease, the higher the score.

Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

Zhujiang Hospiatal

🇨🇳

Guangzhou, Guangdong, China

© Copyright 2025. All Rights Reserved by MedPath