Parkinson DiseaseNCT04101968
The GBA Multimodal Study in Parkinson's Disease
An observational study of Parkinson Disease and GBA Gene Mutation, run by Pacific Parkinson's Research Centre at 3 sites in 2 countries.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 to 80 years
- Conditions the study is for
- Parkinson Disease, GBA Gene Mutation, Gaucher Disease
- What is being tested?
- PET scan and neuroQWERTY
- How many people
- 30 participants
- Where
- 3 sitesin 2 countries
- Study dates
- 1 May 2019to 30 Jun 2026
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 80 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: People with a known pathogenic GBA gene mutation with or without PD.
Who may be able to join
- heterozygous for a pathogenic GBA mutation (e.g., p.L444P, p.N370S) or polymorphism;
- age 18 to 80 years.
Who cannot join
- 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
Trial locations and contacts
3 sites in 2 countries.
3 sites in 2 countries
United States2 sites
Oregon Health & Science University
Portland, Oregon, 97239
University of Washington
Seattle, Washington, 98108-1595
Canada1 site
Pacific Parkinson's Research Centre | University of British Columbia
Vancouver, British Columbia
About this study
Official title: Multimodal Molecular Imaging and Biometric Analysis in GBA-PD and Asymptomatic GBA-mutation Carriers
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.
Read the detailed description
Study Rationale: People who have a mutation in the GBA gene have a higher risk of developing Parkinson's disease (PD) and, if they have PD, are more likely to have cognitive decline and dementia. Cognitive problems in people with PD is related to dysfunction of the brain chemical acetylcholine and likely to the accumulation of the tau protein in the brain. Another observation in previous studies is that analyzing the patterns of typing into a computer can help differentiate healthy people from people with PD.
Hypothesis: The investigators hypothesize that people with GBA-related PD will have higher acetylcholine dysfunction and tau accumulation compared with non-GBA patients, and that these changes may start in the asymptomatic phase (i.e., people with the mutation but without symptoms of PD). The investigators also believe that the investigators will be able to detect subjects with higher degree of dopamine loss just by analyzing the way they type into a computer.
Study Design: The investigators will recruit 25 subjects with a GBA mutation (10 subjects with PD and 15 asymptomatic carriers). All the participants will have a clinical evaluation and a typing session, and subsequently will undergo a brain MRI and three PET scans with a tau tracer, an acetylcholine tracer, and a dopaminergic tracer. A blood sample will also be taken for the analysis of GCase (the enzyme related to the GBA mutation).
Impact on Diagnosis/Treatment of Parkinson's Disease: The results will help understand the changes that take place in the brain of people with GBA-related Parkinson's disease, and hopefully will shed light also on the pathophysiology of non-GBA-related Parkinson's, as well as on the molecular correlates of cognitive decline, especially in its early stage. The typing data along with dopaminergic imaging will clarify the possible role of using typing patterns to identify subjects with early stage Parkinson's disease.
Next Steps for Development: The findings of this study may help identify biomarkers for cognitive decline in early Parkinson's disease, with a potential role in clinical trials. Also, if the hypothesis on the typing is confirmed, this approach may be studied in larger cohorts for early diagnosis of Parkinson's in other at-risk populations.
- Conditions
- Parkinson Disease, GBA Gene Mutation, Gaucher Disease
- Being tested
- PET scan, neuroQWERTY
- Keywords
- Parkinson
- Medical subject headings
- Parkinson Disease, Gaucher Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
PET scanDiagnostic test
3 PET scans to analyze the dopamine metabolism, acetylcholine and tau protein deposition in the brain.
neuroQWERTYDiagnostic test
Analysis of free-text typing in a computer and/or a touch-screen device.
| Study group | Role | What they receive |
|---|---|---|
| GBA-PD | People with Parkinson's disease who are known heterozygous carriers of pathogenic GBA gene mutations. Receives: Diagnostic Test: PET scan; Diagnostic Test: neuroQWERTY | |
| Asymptomatic GBA | Known heterozygous carriers/obligated carriers of pathogenic GBA gene mutations. Receives: Diagnostic Test: PET scan; Diagnostic Test: neuroQWERTY |
What is being measured
The primary outcome is the main question the study is designed to answer.
Acetylcholinesterase activity
11C-PMP PET
Measured: baseline
Tau protein deposition
11C-PBB3 PET
Measured: baseline
Dopaminergic denervation
11C-DTBZ PET
Measured: baseline
neuroQWERTY index
Typing analysis
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Sep 2019
- Study start1 May 2019
- Primary completion30 Jun 2026
- Study completion30 Jun 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Parkinson DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 30 participants (actual)
Sponsor and investigators
- Lead sponsor
- Pacific Parkinson's Research Centre
- Sponsor type
- University, hospital or other
- Collaborators
- University of British Columbia, University of Washington, Oregon Health and Science University, Simon Fraser University, Michael J. Fox Foundation for Parkinson's Research, Silverstein Foundation, Weston Brain Institute
- Responsible party
- Sponsor
- Investigators
- Michele Matarazzo, MD, Principal investigator, Pacific Parkinson's Research Centre | University of British ColumbiaA. Jon Stoessl, CM, MD, FRCPC, FCAHS, Principal investigator, Pacific Parkinson's Research Centre | University of British Columbia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04101968
- Sponsor's protocol ID
- 16451
- Status last verified
- Aug 2026
- First submitted
- 16 Sep 2019
- Last updated
- 2 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 2 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Multimodal Molecular Imaging and Biometric Analysis in GBA-PD and Asymptomatic GBA-mutation Carriers
- ClinicalTrials.gov ID
- NCT04101968
- Acronym / sponsor ID
- 16451
- Conditions
- Parkinson Disease, GBA Gene Mutation, Gaucher Disease
- Keywords
- Parkinson
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 30 participants (actual)
- Lead sponsor
- Pacific Parkinson's Research CentreUniversity, hospital or other
- Collaborators
- University of British Columbia, University of Washington, Oregon Health and Science University, Simon Fraser University, Michael J. Fox Foundation for Parkinson's Research, Silverstein Foundation, Weston Brain Institute
- Study start
- 1 May 2019 (actual)
- Primary completion
- 30 Jun 2026 (actual)
- Study completion
- 30 Jun 2026 (actual)
- First posted
- 24 Sep 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
Study Rationale: People who have a mutation in the GBA gene have a higher risk of developing Parkinson's disease (PD) and, if they have PD, are more likely to have cognitive decline and dementia. Cognitive problems in people with PD is related to dysfunction of the brain chemical acetylcholine and likely to the accumulation of the tau protein in the brain. Another observation in previous studies is that analyzing the patterns of typing into a computer can help differentiate healthy people from people with PD.
Hypothesis: The investigators hypothesize that people with GBA-related PD will have higher acetylcholine dysfunction and tau accumulation compared with non-GBA patients, and that these changes may start in the asymptomatic phase (i.e., people with the mutation but without symptoms of PD). The investigators also believe that the investigators will be able to detect subjects with higher degree of dopamine loss just by analyzing the way they type into a computer.
Study Design: The investigators will recruit 25 subjects with a GBA mutation (10 subjects with PD and 15 asymptomatic carriers). All the participants will have a clinical evaluation and a typing session, and subsequently will undergo a brain MRI and three PET scans with a tau tracer, an acetylcholine tracer, and a dopaminergic tracer. A blood sample will also be taken for the analysis of GCase (the enzyme related to the GBA mutation).
Impact on Diagnosis/Treatment of Parkinson's Disease: The results will help understand the changes that take place in the brain of people with GBA-related Parkinson's disease, and hopefully will shed light also on the pathophysiology of non-GBA-related Parkinson's, as well as on the molecular correlates of cognitive decline, especially in its early stage. The typing data along with dopaminergic imaging will clarify the possible role of using typing patterns to identify subjects with early stage Parkinson's disease.
Next Steps for Development: The findings of this study may help identify biomarkers for cognitive decline in early Parkinson's disease, with a potential role in clinical trials. Also, if the hypothesis on the typing is confirmed, this approach may be studied in larger cohorts for early diagnosis of Parkinson's in other at-risk populations.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| GBA-PD | – | Diagnostic Test: PET scan, Diagnostic Test: neuroQWERTYPeople with Parkinson's disease who are known heterozygous carriers of pathogenic GBA gene mutations. |
| Asymptomatic GBA | – | Diagnostic Test: PET scan, Diagnostic Test: neuroQWERTYKnown heterozygous carriers/obligated carriers of pathogenic GBA gene mutations. |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- People with a known pathogenic GBA gene mutation with or without PD.
Key inclusion criteria (2 listed)
- heterozygous for a pathogenic GBA mutation (e.g., p.L444P, p.N370S) or polymorphism;
- age 18 to 80 years.
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| PET scan3 PET scans to analyze the dopamine metabolism, acetylcholine and tau protein deposition in the brain. | Diagnostic test | Asymptomatic GBA, GBA-PD |
| neuroQWERTYAnalysis of free-text typing in a computer and/or a touch-screen device. | Diagnostic test | Asymptomatic GBA, GBA-PD |
Primary outcome
Acetylcholinesterase activity
Time frame: baseline
11C-PMP PET
Tau protein deposition
Time frame: baseline
11C-PBB3 PET
Dopaminergic denervation
Time frame: baseline
11C-DTBZ PET
neuroQWERTY index
Time frame: baseline
Typing analysis
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Sep 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Michele Matarazzo, MD principal investigator
Pacific Parkinson's Research Centre | University of British Columbia
A. Jon Stoessl, CM, MD, FRCPC, FCAHS principal investigator
Pacific Parkinson's Research Centre | University of British Columbia
3 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Parkinson Disease and GBA Gene Mutation, run by Pacific Parkinson's Research Centre at 3 sites in 2 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States, Canada. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Acetylcholinesterase activity (time frame: baseline). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Sep 2026.