NCT05721911 Implementing a National Biobank of PD With WGS and Functional Assessment of Polygenic Inheritance by iPSC Technology
| NCT ID | NCT05721911 |
| Status | Recruiting |
| Phase | — |
| Sponsor | IRCCS San Raffaele |
| Condition | Parkinson Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 230 participants |
| Start Date | 2023-10-30 |
| Primary Completion | 2026-03-04 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 230 participants in total. It began in 2023-10-30 with a primary completion date of 2026-03-04.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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
Eligibility Criteria
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
Contact & Investigator
Vania Broccoli, PhD
PRINCIPAL INVESTIGATOR
IRCCS San Raffaele
Frequently Asked Questions
Who can join the NCT05721911 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying Parkinson Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05721911 currently recruiting?
Yes, NCT05721911 is actively recruiting participants. Contact the research team at broccoli.vania@hsr.it for enrollment information.
Where is the NCT05721911 trial being conducted?
This trial is being conducted at Milan, Italy.
Who is sponsoring the NCT05721911 clinical trial?
NCT05721911 is sponsored by IRCCS San Raffaele. The principal investigator is Vania Broccoli, PhD at IRCCS San Raffaele. The trial plans to enroll 230 participants.
Related Trials
Related Intelligence Guides
In-depth guides covering this condition's trials, eligibility, and what to expect.