Examining brain imaging and blood markers in patients with GBA mutations related to Parkinson's Disease
Exploring Brain Molecular Imaging and Blood Biomarkers in Subjects With Glucocerebrosidase Mutations: Toward a Precision Medicine Approach to Characterize Parkinson's Disease Clinical Trajectories
This study is trying to see how certain genetic changes related to Parkinson's Disease affect its progression by looking at brain scans and blood tests in patients with these mutations.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 140 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | IRCCS San Raffaele Academic / other |
| Locations | 1 site (Pavia) |
| Trial ID | NCT06167603 on ClinicalTrials.gov |
What this trial studies
This observational study investigates the impact of glucocerebrosidase (GBA) mutations on the progression of Parkinson's Disease (PD). By utilizing neuroimaging techniques like positron emission tomography (PET) alongside blood tests and clinical evaluations, the study aims to uncover the mechanisms that contribute to the more severe forms of PD associated with GBA mutations. The goal is to identify biomarkers that can help stratify clinical trajectories and develop a prognostic algorithm for predicting disease progression in affected individuals.
Who should consider this trial
Good fit: Ideal candidates include individuals diagnosed with Parkinson's Disease who carry heterozygous GBA mutations and have a disease duration of 3 to 7 years.
Not a fit: Patients with other neurological or systemic diseases, or those with mutations in other Parkinson's Disease-related genes, may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic and treatment strategies for patients with GBA-related Parkinson's Disease.
How similar studies have performed: Other studies have shown promise in using biomarkers and imaging to understand Parkinson's Disease, but this specific approach focusing on GBA mutations is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * PD diagnosis according to MDS-PD criteria and for GBA-PD group, presence of heterozygous GBA mutations; * disease duration 3-7years. Exclusion Criteria: * other neurological or systemic diseases; * presence of mutations in another PD gene; * impossibility or unwillingness to perform FDG-PET.
Where this trial is running
Pavia
- Neurological Institute Foundation Casimiro Mondino — Pavia, Italy (Recruiting)
Study contacts
- Study coordinator: Micol Avenali
- Email: micol.avenali@mondino.it
- Phone: 0382.380221
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.