Actively Recruiting
Implementing a National Biobank of Genetic, Sporadic and Prodromic Parkinson's Disease With Whole Genome Analysis and Functional Assessment of Polygenic Inheritance by iPSC Technology
Led by IRCCS San Raffaele · Updated on 2026-03-30
230
Participants Needed
1
Research Sites
38 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating the complex genetic factors involved in sporadic Parkinson's disease (PD) and REM sleep behavior disorder (RBD). This multicenter observational study aims to create a national biobank by coordinating local biorepositories and collecting biological samples from PD and RBD patients, as well as healthy controls. The study focuses on whole genome sequencing to identify rare genetic variants and uses induced pluripotent stem cell (iPSC) technology combined with gene editing to assess the impact of these variants on disease mechanisms. Participants include PD patients, RBD patients, and healthy spouses or partners. The study involves collecting blood samples to isolate DNA, plasma, serum, and peripheral blood mononuclear cells (PBMCs). Whole genome sequencing and bioinformatic analyses will be performed to identify genetic variants associated with PD and RBD. Some participants will have iPSC lines generated from their PBMCs to study the functional effects of genetic variants. Clinical assessments include evaluations of motor symptoms, cognitive function, sleep disorders, and levodopa-induced dyskinesia. Participants will be monitored over two years with regular clinical evaluations using standardized tests such as the Hoehn and Yahr scale, MDS-UPDRS, MoCA cognitive test, and polysomnography for sleep disorders. Researchers will track disease progression, genetic findings, and their association with clinical features. This comprehensive approach aims to improve understanding of PD genetics and support future predictive genetic testing and counseling for patients and families.
CONDITIONS
Brief Title
Implementing a National Biobank of PD With WGS and Functional Assessment of Polygenic Inheritance by iPSC Technology
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Adults aged 18 years or older
- Parkinson's disease patients with at least 2 of these signs: tremor, rigidity, bradykinesia, or asymmetric onset; one must be tremor or bradykinesia
- Absence of atypical symptoms or secondary parkinsonism causes
- Documented response or adequate therapeutic attempt with L-dopa or dopamine agonists
- Patients diagnosed with idiopathic REM sleep behavior disorder according to ICSD-3 criteria
- Healthy spouses or partners of patients
You will not qualify if you...
- Pre-existing psychiatric conditions
- Neurodegenerative diseases such as multiple sclerosis, amyotrophic lateral sclerosis, Alzheimer's disease, neuromuscular diseases, epilepsy
- Diagnosis of dementia
- Depression
- Prolonged use of anxiolytics, antidepressants, antipsychotics, hypnotics, or cognitive stimulants
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Baseline and up to 2 years
Participants undergo clinical assessments for Parkinson’s disease progression and related symptoms, including motor and non-motor evaluations, sleep disorder assessments, and cognitive testing.
Scheduled outpatient visits during the study period
Duration - At baseline with ongoing analysis up to 2 years
Participants provide peripheral blood samples for DNA, plasma, serum, and PBMC isolation. Whole genome sequencing and bioinformatic analysis are performed to identify genetic variants related to Parkinson's disease.
1 to 2 visits for blood sampling
Duration - Up to 2 years
Participants are monitored over time to observe disease progression and association with genetic findings.
Regular outpatient visits for assessments over 2 years
Trial Site Locations
Total: 1 location
1
IRCCS San Raffaele
Milan, Italy, Italy, 20132
Actively Recruiting
Research Team
V
Vania Broccoli, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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