Building a national Parkinson's biobank with genome sequencing and stem cell studies
Collects samples and genome sequencing from people with Parkinson's disease and REM sleep behavior disorder.
Key facts
- Who runs it
- IRCCS San Raffaele
- Where
- Milan, ItalySee the site
- Trial code
- Registry title
- Implementing a National Biobank of PD With WGS and Functional Assessment of Polygenic Inheritance by iPSC Technology
- Status
- Recruiting
- People taking part
- 230 people, planned
- Started
- 30 Oct 2023
- Expected to end
- Dec 2026
- Type of study
- Observational
- Treatments tested
- whole genome sequencing
- Record updated
- 30 March 2026
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for adults with Parkinson's disease or with idiopathic REM sleep behavior disorder. Samples are collected for genetic studies.
- Age
- 18 years or older
- Sex
- All sexes can join.
- Disease stage
- Parkinson's disease with at least 2 of 4 main signs (tremor, rigidity, bradykinesia, asymmetric onset), one being tremor or bradykinesia; or idiopathic REM sleep behavior disorder (ICSD-3 criteria).
- Earlier treatment
- Documented response to L-dopa or a dopamine agonist, or no adequate trial of these drugs yet.
Main reasons for not taking part
- Early postural instability, freezing, cognitive impairment, hallucinations, abnormal involuntary movements or vertical gaze paralysis
- Secondary parkinsonism (focal lesions, drugs, toxic substances)
- Other neurodegenerative diseases such as multiple sclerosis, Alzheimer's, epilepsy
- Dementia, depression or earlier psychiatric conditions
- Long-term use of anxiolytics, antidepressants, antipsychotics, hypnotics or cognitive stimulants
The registry criteria, word for word
Show all 9 criteriaShow less
Who can take part
- Presence of at least 2 of the 4 cardinal signs (tremor, rigidity, bradykinesia, onset asymmetric) one of which must be tremor or bradykinesia
- Absence of atypical symptoms such as: i) early postural instability, freezing phenomena, cognitive impairment, hallucinations, pathological involuntary movements, vertical gaze paralysis; ii) confirmed causes of secondary parkinsonism (focal lesions, drugs, substances toxic)
- Documented response to L-dopa or dopamine agonist use (or lack of adequate therapeutic attempt with L-dopa or dopamine agonists)
- Subjects affected by idiopathic RBD that will be selected according to the most recent criteria international classification of sleep disorders (ICSD-3)
Who cannot take part
- prolonged intake of anxiolytics, antidepressants, antipsychotics, hypnotic drugs, cognitive stimulants
- pre-existing psychiatric conditions
- Neurodegenerative neurological diseases such as multiple sclerosis, lateral sclerosis amyotrophic, Alzheimer's, neuromuscular pathologies, epilepsy
- diagnosis of dementia
- depression
Where in Italy
- IRCCS San RaffaeleMilan, ItalyContact: Vania Broccoli, PhDTaking people
About the trial
What the trial wants to find out
The genetic complexity and heterogeneity of the sporadic forms of Parkinson's disease (PD) are posing a formidable challenge to disentangle their direct molecular causes. To advance this research, we plan to coordinate our local biorepositories of PD biological specimens creating a standardized and integrated national resource. In this framework, we plan to collect more samples from additional sporadic PD cases and to extend the sampling to patients with REM sleep behavior disease. We plan a large campaign of whole genome sequencing including about 200 patients to identify rare genomic variants plausibly associated with these diseases. In addition, we will standardize the generation and quality control of iPSC lines to make available to the scientific community. Finally, we will combine iPSC technology and gene editing to functionally assess the relative impact of rare variants in coding regions inherited together as a polygenic trait previously identified in selected sporadic PD cases
Treatments tested
- whole genome sequencing
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- 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
- Plain-language title
- Building a national Parkinson's biobank with genome sequencing and stem cell studiesGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 12 November 2026.
- Record updated
- 30 March 2026