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Chinese PD-GBA Registry

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StatusMerekrut
Sponsor
Xiangya Hospital of Central South University

Kata kunci

Abstrak

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.

Deskripsi

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.

tanggal

Terakhir Diverifikasi: 03/31/2018
Pertama Dikirim: 04/30/2018
Perkiraan Pendaftaran Telah Dikirim: 04/30/2018
Pertama Diposting: 05/13/2018
Pembaruan Terakhir Dikirim: 05/23/2018
Pembaruan Terakhir Diposting: 05/28/2018
Tanggal Mulai Studi Sebenarnya: 01/31/2017
Perkiraan Tanggal Penyelesaian Utama: 01/31/2027
Perkiraan Tanggal Penyelesaian Studi: 01/31/2027

Kondisi atau penyakit

Parkinson Disease

Tahap

-

Kriteria kelayakan

Jenis Kelamin yang Layak untuk BelajarAll
Metode pengambilan sampelNon-Probability Sample
Menerima Relawan SehatIya
Kriteria

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:

-

Hasil

Ukuran Hasil Utama

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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