Analyzing the link between GBA mutations and Parkinson's disease
Multimodal Molecular Imaging and Biometric Analysis in GBA-PD and Asymptomatic GBA-mutation Carriers
This study is trying to see how changes in the GBA gene are linked to Parkinson's disease by looking at brain scans and other tests in people with and without the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 25 (estimated) |
| Ages | 18 Years to 80 Years |
| Sex | All |
| Sponsor | Pacific Parkinson's Research Centre Academic / other |
| Locations | 3 sites (Portland, Oregon and 2 other locations) |
| Trial ID | NCT04101968 on ClinicalTrials.gov |
What this trial studies
This observational study aims to explore the molecular and clinical mechanisms connecting GBA gene mutations to Parkinson's disease. Utilizing advanced neuroimaging techniques like PET scans, the study will assess tau protein accumulation and the dysfunction of acetylcholine and dopamine in the brains of individuals with GBA mutations, both with and without Parkinson's disease. Additionally, typing patterns will be analyzed as potential biomarkers for early motor dysfunctions. The study will recruit 25 participants, including those with GBA-related Parkinson's and asymptomatic carriers, to undergo clinical evaluations, brain imaging, and blood sample analysis.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 18 to 80 who are heterozygous for a pathogenic GBA mutation.
Not a fit: Patients with other neurological disorders or those who cannot undergo MRI scanning due to implants may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of Parkinson's disease mechanisms and improve early diagnosis and treatment strategies for patients with GBA mutations.
How similar studies have performed: Previous studies have indicated a strong link between GBA mutations and Parkinson's disease, suggesting that this approach may yield valuable insights.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * heterozygous for a pathogenic GBA mutation (e.g., p.L444P, p.N370S) or polymorphism; * age 18 to 80 years. Exclusion Criteria: * 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
Where this trial is running
Portland, Oregon and 2 other locations
- Oregon Health & Science University — Portland, Oregon, United States (Recruiting)
- University of Washington — Seattle, Washington, United States (Recruiting)
- Pacific Parkinson's Research Centre | University of British Columbia — Vancouver, British Columbia, Canada (Recruiting)
Study contacts
- Principal investigator: Michele Matarazzo, MD — Pacific Parkinson's Research Centre | University of British Columbia
- Study coordinator: Jessamyn McKenzie
- Email: jess.mckenzie@ubc.ca
- Phone: 6048227764
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.