National Parkinson's biobank with whole genome sequencing and patient-derived stem-cell testing

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This multicenter observational project will create a standardized national biobank of blood, DNA, and cellular samples from people with Parkinson's disease (PD), REM sleep behavior disorder (RBD), and healthy controls. Teams will harmonize clinical reporting and sample collection across centers, recruit additional participants, and perform whole genome sequencing on a selected cohort (about 200 PD cases negative for known PD gene mutations) as well as on RBD patients. Investigators will generate and quality-control induced pluripotent stem cell (iPSC) lines from patient blood and use gene editing to test the functional effects of co-inherited rare coding variants as a potential polygenic driver of sporadic PD. The biobank and validated iPSC lines will be made available to the scientific community to support further research.

Why it matters

Who can join: the full rules

Inclusion Criteria PD patients:

* 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).

Inclusion Criteria RBD patients:

• Subjects affected by idiopathic RBD that will be selected according to the most recent criteria international classification of sleep disorders (ICSD-3).

Exclusion Criteria:

* pre-existing psychiatric conditions;
* Neurodegenerative neurological diseases such as multiple sclerosis, lateral sclerosis amyotrophic, Alzheimer's, neuromuscular pathologies, epilepsy;
* diagnosis of dementia;
* depression;
* prolonged intake of anxiolytics, antidepressants, antipsychotics, hypnotic drugs, cognitive stimulants

Where it's running

• IRCCS San Raffaele
  Milan, Italy, Italy Recruiting

Study contacts

• Principal investigator: Vania Broccoli, PhD — IRCCS San Raffaele
• Study coordinator: Vania Broccoli, PhD
• Email: broccoli.vania@hsr.it
• Phone: +39 0226434616

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.