The GBA Multimodal Study in Parkinson's Disease

NCT04101968 | Recruiting

• 1 other identifier: 16451
• Study Type: observational
• Target: 25
• Locations: 2 countries
• Sites: 3

Brief Summary

This study plans to analyze the molecular and clinical mechanisms of the relationship between the GBA mutations and Parkinson's disease. This will be assessed through the use of advanced neuroimaging techniques called PET (positron emission tomography) to study the accumulation of the tau protein and the dysfunction of acetylcholine and dopamine in the brain of people with a mutation in the GBA gene, with and without Parkinson's disease. The ingestigators will also use a technology-based assessment to study the typing patterns as possible biomarkers of early motor dysfunctions.

Conditions

Parkinson Disease; GBA Gene Mutation; Gaucher Disease

Keywords

Parkinson

Outcome Measures

Primary Outcomes (4)

• Acetylcholinesterase activity

  11C-PMP PET

  baseline

• Tau protein deposition

  11C-PBB3 PET

  baseline

• Dopaminergic denervation

  11C-DTBZ PET

  baseline

• neuroQWERTY index

  Typing analysis

  baseline

Study Arms (2)

GBA-PD

People with Parkinson's disease who are known heterozygous carriers of pathogenic GBA gene mutations.

Diagnostic Test: PET scan; Diagnostic Test: neuroQWERTY

Asymptomatic GBA

Known heterozygous carriers/obligated carriers of pathogenic GBA gene mutations.

Diagnostic Test: PET scan; Diagnostic Test: neuroQWERTY

Interventions

PET scan DIAGNOSTIC_TEST

3 PET scans to analyze the dopamine metabolism, acetylcholine and tau protein deposition in the brain.

Asymptomatic GBA; GBA-PD

neuroQWERTY DIAGNOSTIC_TEST

Analysis of free-text typing in a computer and/or a touch-screen device.

Asymptomatic GBA; GBA-PD

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

People with a known pathogenic GBA gene mutation with or without PD.

You may qualify if:

• heterozygous for a pathogenic GBA mutation (e.g., p.L444P, p.N370S) or polymorphism;
• age 18 to 80 years.

You may not qualify if:

• co-occurrence of other neurological disorders;
• implants that contraindicate the MRI scanning (e.g. cardiac pacemaker, ferromagnetic implants or devices);
• severe claustrophobia;
• intolerance to antiparkinsonian drug withdrawal (for GBA-PD subjects);
• ongoing treatment with cholinergic drugs

Sponsors & Collaborators

• Pacific Parkinson's Research Centre: lead
• University of British Columbia: collaborator
• University of Washington: collaborator
• Oregon Health and Science University: collaborator
• Simon Fraser University: collaborator
• Michael J. Fox Foundation for Parkinson's Research: collaborator
• Silverstein Foundation: collaborator
• Weston Brain Institute: collaborator

Study Sites (3)

Oregon Health & Science University

Portland, Oregon, 97239, United States

RECRUITING

University of Washington

Seattle, Washington, 98108-1595, United States

RECRUITING

Pacific Parkinson's Research Centre | University of British Columbia

Vancouver, British Columbia, Canada

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample

MeSH Terms

Conditions

Parkinson Disease; Gaucher Disease

Interventions

Positron-Emission Tomography

Condition Hierarchy (Ancestors)

Parkinsonian Disorders; Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Movement Disorders; Synucleinopathies; Neurodegenerative Diseases; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

Tomography, Emission-Computed; Image Interpretation, Computer-Assisted; Diagnostic Imaging; Diagnostic Techniques and Procedures; Diagnosis; Image Enhancement; Photography; Radionuclide Imaging; Tomography; Diagnostic Techniques, Radioisotope

Study Officials

• Michele Matarazzo, MD

  Pacific Parkinson's Research Centre | University of British Columbia

  PRINCIPAL INVESTIGATOR

• A. Jon Stoessl, CM, MD, FRCPC, FCAHS

  Pacific Parkinson's Research Centre | University of British Columbia

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jessamyn McKenzie

CONTACT

6048227764; jess.mckenzie@ubc.ca

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 16, 2019
• First Posted: September 24, 2019
• Study Start: May 1, 2019
• Primary Completion: December 30, 2025
• Study Completion: December 30, 2025
• Last Updated: May 31, 2025

Record last verified: 2025-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (2); CA (1)