Clinical trial NCT03523052: Chinese PD-SNCA Registry
Official title: The Chinese Parkinson's Disease With SNCA Variants Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Parkinson Disease
Lead sponsor: Xiangya Hospital of Central South University
Sponsor class: OTHER
First posted: 2018-05-14
Enrollment: 3000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: PD patients with SNCA variants

Brief summary: The purpose of the Chinese PD-SNCA Registry(CPD-SNCAR) is to develop a database of patients of Parkinson's disease with a-synuclein (SNCA) gene variants in mainland China.

Detailed description: Parkinson's disease (PD) is the second most common disorder among neurodegenerative diseases. SNCA is the first gene implicated in monogenic parkinsonism. However, some polymorphisms of SNCA gene such as rs894278 and rs11931074 can affect the risk of sporadic PD. The investigators aim to establish a database of PD with SNCA variants and characterize the clinical manifestation of these patients in mainland China.

Method:

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

Eligibility criteria: 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 positive SNCA variants

Exclusion Criteria:

-

Primary outcomes:
measure: Database of Parkinson's disease with SNCA variants
timeFrame: 10 years
measure: Clinical feature
timeFrame: 10 years
Secondary outcomes:
Other outcomes:
Locations:
city: Changsha
country: China
facility: Xiangya Hospital of Central South University
state: Hunan
Study officials:
References:
citation: Hu Y, Tang B, Guo J, Wu X, Sun Q, Shi C, Hu L, Wang C, Wang L, Tan L, Shen L, Yan X, Zhang H. Variant in the 3' region of SNCA associated with Parkinson's disease and serum alpha-synuclein levels. J Neurol. 2012 Mar;259(3):497-504. doi: 10.1007/s00415-011-6209-4. Epub 2011 Aug 19.
citation: Ai SX, Xu Q, Hu YC, Song CY, Guo JF, Shen L, Wang CR, Yu RL, Yan XX, Tang BS. Hypomethylation of SNCA in blood of patients with sporadic Parkinson's disease. J Neurol Sci. 2014 Feb 15;337(1-2):123-8. doi: 10.1016/j.jns.2013.11.033. Epub 2013 Dec 1.
citation: 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.
citation: Wei Y, Yang N, Xu Q, Sun Q, Guo J, Li K, Liu Z, Yan X, Zhu X, Tang B. The rs3756063 polymorphism is associated with SNCA methylation in the Chinese Han population. J Neurol Sci. 2016 Aug 15;367:11-4. doi: 10.1016/j.jns.2016.05.037. Epub 2016 May 19.