whole genome sequencing for Parkinson's (NCT05721911)
Identify rare genes causing Parkinsons
- Trial ID
- NCT05721911
- 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
- Goal
- Identify rare genes causing Parkinsons
- Status
- RECRUITING
- Sponsor
- IRCCS San Raffaele
- Study Type
- OBSERVATIONAL
- Enrollment
- 230 participants
- Conditions
- Parkinson Disease, REM Sleep Behavior Disorder
- Interventions
- whole genome sequencing
Summary For Families
Goal: to build a standardized national biobank and genetic database to find rare genetic changes and combinations that may contribute to sporadic Parkinson's disease, and to study REM sleep behavior disorder as a possible early sign. Approach: the team will collect blood, DNA, plasma, serum and immune cells from about 230 new participants, do whole genome sequencing on roughly 200 Parkinson's patients, make stem-like cells from some patients' blood cells and use gene editing to test how particular combinations of rare gene changes affect those cells. Eligibility: adults 18 and older with sporadic Parkinson's who have at least two of tremor, stiffness, slowed movement, or symptoms that began on one side (one must be tremor or slowed movement) and who have a documented response to levodopa or dopamine agonists or have not yet had an adequate trial, plus people with idiopathic REM sleep behavior disorder and healthy partners as controls; people with dementia, other neurodegenerative diseases, major psychiatric conditions, or long-term use of certain psychiatric medicines are excluded.
Locations
- IRCCS San Raffaele, Milan, Italy, Italy
Frequently Asked Questions
- What is this trial testing?
- This trial is studying whole genome sequencing. Goal: to build a standardized national biobank and genetic database to find rare genetic changes and combinations that may contribute to sporadic Parkinson's disease, and to study REM sleep behavior disorder as a possible early sign. Approach: the team will collect blood, DNA, plasma, serum and immune cells from about 230 new participants, do whole genome sequencing on roughly 200 Parkinson's patients, make stem-like cells from some patients' blood cells and use gene editing to test how particular combinations of rare gene changes affect those cells. Eligibility: adults 18 and older with sporadic Parkinson's who have at least two of tremor, stiffness, slowed movement, or symptoms that began on one side (one must be tremor or slowed movement) and who have a documented response to levodopa or dopamine agonists or have not yet had an adequate trial, plus people with idiopathic REM sleep behavior disorder and healthy partners as controls; people with dementia, other neurodegenerative diseases, major psychiatric conditions, or long-term use of certain psychiatric medicines are excluded.
- Who can participate?
- Participants must be at least 18 Years.
- Where is this trial located?
- This trial is recruiting at 1 location.
- Does it cost anything to join?
- No. There is no cost to participate. Study-related care and treatment are provided at no charge.
- How long does the trial last?
- This trial is estimated to last approximately 2 years and 4 months.
- Can I leave the trial if I change my mind?
- Yes. You can withdraw from any clinical trial at any time, for any reason, without affecting your standard medical care. Trials are voluntary by law. The team may ask if you are willing to do a brief exit visit so they can collect safety information, but you are not obligated.
- Can my spouse or care partner come with me to visits?
- In most cases yes, and it is often encouraged. Care partners can help with notes, questions, and getting home safely after a long visit. Some study assessments do need to happen one on one, but care partners are usually welcome for the rest of the appointment.
- Will I get a placebo in this trial?
- This is an observational study, so there is no placebo and no experimental treatment is assigned. Researchers observe and collect information while you continue your usual care.