Parkinson DiseaseBioPDNCT04668898
LRRK2, GBA and Other Genetic Biomarkers in Eastern European (Ashkenazi) Jews With and Without Parkinson's Disease
An observational study of Parkinson Disease and LRRK2, run by Icahn School of Medicine at Mount Sinai at 1 site in United States.
Trial summary
Single site observational study focused on elucidating the genes and biochemical pathways involved in causing Parkinson disease. Read more about this study
- Who is it for?
- Ages 30 years and olderHealthy volunteers can take part
- Conditions the study is for
- Parkinson Disease, LRRK2, GBA Gene Mutation
- How many people
- 203 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Apr 2019to 1 Apr 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 30 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Parkinson disease patients and their family members who are of Ashkenazi (Eastern European) Jewish descent who either have a GBA or LRRK2 mutations or who have 3 or more family members with PD.
Who may be able to join
- Parkinson disease patients and their family members and is limited to participants of Ashkenazi (Eastern European) Jewish descent with GBA and LRRK2 mutations, or with 3 or more family members with PD
- Participants must be local to the New York City area and willing to come to Mount Sinai Downtown for annual 2 hour study visits which include obtaining personal medical and family history information, blood, urine and spinal fluid samples, neurological exam and neuropsychiatric testing. Spinal fluid collection is encouraged but optional.
Who cannot join
- -Patients who do not have Parkinson disease or family members of Ashkenazi (Eastern European) Jewish descent who either has a GBA or LRRK2 mutations OR who has 3 or more family members with PD.
Trial locations and contacts
1 site in 1 country.
United States1 site
Mount Sinai-- Downtown Union Square
New York, New York, 11104
About this study
Official title: Dissecting Oligogenic Biomarkers in Ashkenazi Jews With Parkinson's Disease
Single site observational study focused on elucidating the genes and biochemical pathways involved in causing Parkinson disease.
Read the detailed description
This single site study, is enrolling Parkinson disease (PD) patients and their family members and is limited to participants of Ashkenazi (Eastern European) Jewish descent with GBA and LRRK2 mutations, or with 3 or more family members with PD. Follow-up will be for three years. Participants must be in the New York City area yearly and willing to come to Mount Sinai Downtown for yearly 2 hour study visits which include obtaining personal medical and family history information, blood, urine and spinal fluid samples, neurological exam and neuropsychiatric testing. De-identified data and samples will be securely stored at a central NIH-run repository for access by other researchers. Spinal fluid collection is encouraged but optional.
- Conditions
- Parkinson Disease, LRRK2, GBA Gene Mutation
- Keywords
- Parkinson's disease, Parkinsonian Disorders, LRRK2, GBA, Movement Disorders, Neurodegenerative Diseases
- Medical subject headings
- Parkinson Disease, Parkinsonian Disorders, Movement Disorders, Neurodegenerative Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| LRRK2 Parkinson Disease | Individuals with LRRK2-related Parkinson Disease | |
| GBA Parkinson Disease | Individuals with GBA-related Parkinson Disease | |
| Idiopathic Parkinson Disease | Individuals with Idiopathic (without any known genetic cause) Parkinson Disease | |
| LRRK2 non-manifesting carriers | Individuals without Parkinson Disease who have a LRRK2 mutation | |
| GBA non-manifesting carriers | Individuals without Parkinson Disease who have a GBA mutation | |
| Healthy control | Individuals without a personal or family history (1st or 2nd degree) of a neurodegenerative disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
Elucidate blood-based genetic biomarkers in Parkinson's disease
Discovery and validation of new blood-based genetic biomarkers (both DNA and expression-based) for Parkinson's disease
Measured: five years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Dec 2020
- Study start1 Apr 2019
- Primary completion1 Apr 2025
- Study completion1 Apr 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Parkinson DiseaseStudies of the same condition, open and under way.
- More trials run by Icahn School of Medicine at Mount SinaiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Other
- Enrolment
- 203 participants (actual)
Sponsor and investigators
- Lead sponsor
- Icahn School of Medicine at Mount Sinai
- Sponsor type
- University, hospital or other
- Collaborators
- Massachusetts General Hospital, National Institute of Neurological Disorders and Stroke (NINDS)
- Responsible party
- Principal investigator, Rachel Saunders-Pullman, Icahn School of Medicine at Mount Sinai
- Investigators
- Rachel Saunders-Pullman, MD, MPH, Principal investigator, Icahn School of Medicine at Mount SinaiLaurie Ozelius, PhD, Principal investigator, Massachusetts General Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04668898
- Sponsor's protocol ID
- GCO 17-1846
- Other IDs
- 1U01NS107016-01A1
- Acronym
- BioPD
- Status last verified
- Apr 2025
- First submitted
- 9 Dec 2020
- Last updated
- 16 Apr 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Individual participant data that underlie the results reported in this article, after deidentification (text, tables, figures, and appendices).
Study at a glance
From the registry record, last updated by the sponsor on 16 Apr 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Dissecting Oligogenic Biomarkers in Ashkenazi Jews With Parkinson's Disease
- ClinicalTrials.gov ID
- NCT04668898
- Acronym / sponsor ID
- BioPD / GCO 17-1846
- Conditions
- Parkinson Disease, LRRK2, GBA Gene Mutation
- Keywords
- Parkinson's disease, Parkinsonian Disorders, LRRK2, GBA, Movement Disorders, Neurodegenerative Diseases
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 203 participants (actual)
- Lead sponsor
- Icahn School of Medicine at Mount SinaiUniversity, hospital or other
- Collaborators
- Massachusetts General Hospital, National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- 1 Apr 2019 (actual)
- Primary completion
- 1 Apr 2025 (actual)
- Study completion
- 1 Apr 2025 (actual)
- First posted
- 16 Dec 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Single site observational study focused on elucidating the genes and biochemical pathways involved in causing Parkinson disease.
Detailed description
This single site study, is enrolling Parkinson disease (PD) patients and their family members and is limited to participants of Ashkenazi (Eastern European) Jewish descent with GBA and LRRK2 mutations, or with 3 or more family members with PD. Follow-up will be for three years. Participants must be in the New York City area yearly and willing to come to Mount Sinai Downtown for yearly 2 hour study visits which include obtaining personal medical and family history information, blood, urine and spinal fluid samples, neurological exam and neuropsychiatric testing. De-identified data and samples will be securely stored at a central NIH-run repository for access by other researchers. Spinal fluid collection is encouraged but optional.
Study design
- Observational model
- Case-control
- Time perspective
- Other
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| LRRK2 Parkinson Disease | – | –Individuals with LRRK2-related Parkinson Disease |
| GBA Parkinson Disease | – | –Individuals with GBA-related Parkinson Disease |
| Idiopathic Parkinson Disease | – | –Individuals with Idiopathic (without any known genetic cause) Parkinson Disease |
| LRRK2 non-manifesting carriers | – | –Individuals without Parkinson Disease who have a LRRK2 mutation |
| GBA non-manifesting carriers | – | –Individuals without Parkinson Disease who have a GBA mutation |
| Healthy control | – | –Individuals without a personal or family history (1st or 2nd degree) of a neurodegenerative disease |
Who may qualify
- Ages
- 30 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Parkinson disease patients and their family members who are of Ashkenazi (Eastern European) Jewish descent who either have a GBA or LRRK2 mutations or who have 3 or more family members with PD.
Key inclusion criteria (2 listed)
- Parkinson disease patients and their family members and is limited to participants of Ashkenazi (Eastern European) Jewish descent with GBA and LRRK2 mutations, or with 3 or more family members with PD
- Participants must be local to the New York City area and willing to come to Mount Sinai Downtown for annual 2 hour study visits which include obtaining personal medical and family history information, blood, urine and spinal fluid samples, neurological exam and neuropsychiatric testing. Spinal fluid collection is encouraged but optional.
Key exclusion criteria (1 listed)
- -Patients who do not have Parkinson disease or family members of Ashkenazi (Eastern European) Jewish descent who either has a GBA or LRRK2 mutations OR who has 3 or more family members with PD.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Elucidate blood-based genetic biomarkers in Parkinson's disease
Time frame: five years
Discovery and validation of new blood-based genetic biomarkers (both DNA and expression-based) for Parkinson's disease
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Apr 2025.
- Individual participant dataSharing planned: Yes. Individual participant data that underlie the results reported in this article, after deidentification (text, tables, figures, and appendices).
Related trials for Parkinson Disease
Not yet recruitingPhase 1/2
STAR0602 With Nivolumab in Non Small Cell Lung Cancer and in Metastatic Castrate-Resistant Prostate Cancer, and STAR0602 Alone in Thymic Carcinoma
NSCLC, Non-Small Cell Lung Cancer
Enrolling by invitationObservational study
Early Molecular Biomarkers for Differentiating Parkinsonian Syndromes
PARKINSON DISEASE (Disorder), Atypical Parkinsonism
RecruitingPhase 3
A Clinical Study of Sacituzumab Tirumotecan (MK-2870) in Combination With Pembrolizumab (MK-3475) as First-line Maintenance Treatment of Cervical Cancer (MK-2870-036/TroFuse-036/GOG-3123/ENGOT-cx22)
Cervical Cancer
Active, not recruitingPhase 1/2
Clinical Safety and Efficacy of Umbilical Cord Mesenchymal Stromal Cells-derived Exosomes in Patients With Parkinson's Disease
Parkinson Disease (PD)
Active, not recruitingObservational study
Adaptive DBS to Offset STN Dysregulation During Exercise in PD
Parkinson Disease
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Rachel Saunders-Pullman, MD, MPH principal investigator
Icahn School of Medicine at Mount Sinai
Laurie Ozelius, PhD principal investigator
Massachusetts General Hospital
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Parkinson Disease and LRRK2, run by Icahn School of Medicine at Mount Sinai at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 16 Apr 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Elucidate blood-based genetic biomarkers in Parkinson's disease (time frame: five years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Apr 2025.