NCT05721911Recruiting
Implementing a National Biobank of PD With WGS and Functional Assessment of Polygenic Inheritance by iPSC Technology
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
Source: ClinicalTrials.gov · Last updated 30 Mar 2026
Brief summary (registry, in English)
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
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 230 (estimated)
- First submitted
- 30 Jan 2023
- Start date
- 30 Oct 2023
- Primary completion date
- 4 Mar 2026
- Lead sponsor
- IRCCS San Raffaele
- Diseases
- Parkinson disease
- NCT number
- NCT05721911
What you commit to
- Study type: Observational
- Planned participants: 230
- From 30 Oct 2023 to the primary completion date, 4 Mar 2026
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- prolonged intake of anxiolytics, antidepressants, antipsychotics, hypnotic drugs, cognitive stimulants
Other illness
- pre-existing psychiatric conditions;
- Neurodegenerative neurological diseases such as multiple sclerosis, lateral sclerosis amyotrophic, Alzheimer's, neuromuscular pathologies, epilepsy;
- diagnosis of dementia;
Other
- depression;
Who the study is looking for
- 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).
Age in the registry: 18 years to - · Sex: All · Accepts healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| IRCCS San Raffaele Coordinator of this site? Confirm its status | Milan | Italy | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.