LRRK2 Activity and Markers of Parkinson's Disease in G2385R Carriers

NCT04349865 | Completed DMC

• 1 other identifier: LRRK2G2385R
• Study Type: observational
• Target: 211
• Locations: 1 country
• Sites: 1

Brief Summary

The goals of this study are

1. 1.To compare the functional effects of the LRRK2 G2385R variant among carriers with and without Parkinson's disease (PD) and non-carriers with and without PD
2. 2.To investigate the relationship between functional effects of the LRRK2 G2385R variant and PD associated phenotype
3. 3.To investigate the biomarkers associated with PD conversion in the LRRK2 G2385R variant carriers
4. 4.To compare the immune-related differences between PD patients/unaffected individuals with and without the LRRK2 G2385R mutation, and to investigate the effects of immune dysfunction on the clinical expression of PD

Conditions

Parkinson Disease

Keywords

LRRK2 G2385R variant; Parkinson's disease; LRRK2 activity

Outcome Measures

Primary Outcomes (2)

• LRRK2 activity

  Differences of blood LRRK2 activity measured by the optimized laboratory protocols among LRRK2 G2385R carriers and non-carriers with or without PD

  baseline

• Immune function

  Immune-related differences between LRRK2 G2385R carriers and non-carriers with or without PD. Immunological measures include (a) distribution of peripheral blood lymphocyte populations: flow cytometry analysis for surface staining of CD19, CD22, CD79A, PAX5 on B cells, and CD11b, CD14, CD16 on monocytes; (b) cytokine profiles in serum: IL-6, IFN-γ, TGF-β, TNF-α; (c) flow cytometry analysis for proteins involved in several LRRK2-related immune signaling pathways: TLR-4, IFN-γ and TGF-β, NF-κB.

  baseline

Secondary Outcomes (1)

• Clinical symptoms associated with blood LRRK2 activity

  baseline

Study Arms (4)

Idiopathic PD

PD patients without the LRRK2 G2385R mutation

LRRK2 G2385R PD

PD patients with the LRRK2 G2385R mutation

LRRK2 G2385R carriers

Subjects without PD who screen positive for the LRRK2 G2385R mutation

Controls

Subjects without PD who screen negative for the LRRK2 G2385R mutation

Eligibility Criteria

• Age: 55 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

(1) PD patients are from the Chinese National Consortium of Parkinson Disease (CNCPD) cohort; meanwhile, new patients are enrolled from outpatient and inpatient departments. 2\) Unaffected subjects are from a large population-based cohort (the Beijing Longitudinal Study of Aging).

You may qualify if:

• PD patients:
• A diagnosis of Parkinson's disease according to the 2015 MDS PD diagnostic criteria.
• Willingness to take genetic testing.
• Unaffected subjects:
• Individuals aged 55 years or older without a diagnosis of PD.
• Willingness to take genetic testing.

You may not qualify if:

• □ Clinically significant neurological disorders.

Sponsors & Collaborators

• Xuanwu Hospital, Beijing: lead
• Michael J. Fox Foundation for Parkinson's Research: collaborator

Study Sites (1)

Xuanwu Hospital of Capital Medical University

Beijing, China

Location

Biospecimen

Retention: SAMPLES WITH DNA

venous blood collected with EDTA anticoagulant

MeSH Terms

Conditions

Parkinson Disease

Condition Hierarchy (Ancestors)

Parkinsonian Disorders; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases

Study Officials

• Piu Chan, MD, PhD

  Xuanwu Hospital of Capital Medical University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: January 18, 2020
• First Posted: April 16, 2020
• Study Start: May 22, 2018
• Primary Completion: December 25, 2020
• Study Completion: December 25, 2020
• Last Updated: February 9, 2021

Record last verified: 2021-02

Locations

CN (1)