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Parkinson's Foundation PD GENEration Genetic Registry

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT04994015
Recruitment Status : Recruiting
First Posted : August 6, 2021
Last Update Posted : May 7, 2024
Indiana University
Fulgent Genetics
The Parkinson Study Group
Information provided by (Responsible Party):
Parkinson's Foundation

Brief Summary:
Development of a central repository for PD-related genomic data for future research.

Condition or disease Intervention/treatment
Parkinson's Disease Device: Lab Assay for seven genetic variants for Parkinson's Disease

Detailed Description:
The purpose of this study is to develop a central repository for PD-related genomic data by individuals who consent to deposit their data and bank their residual DNA obtained through clinical genetic testing for future research use.

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 25000 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Target Follow-Up Duration: 30 Days
Official Title: Parkinson's Foundation PD GENEration Genetic Registry
Actual Study Start Date : December 20, 2020
Estimated Primary Completion Date : December 31, 2024
Estimated Study Completion Date : June 1, 2025

Resource links provided by the National Library of Medicine

Intervention Details:
  • Device: Lab Assay for seven genetic variants for Parkinson's Disease
    Counseling provided to participant by site clinician/physician/genetic counselor.

Primary Outcome Measures :
  1. Prevalence of Parkinson's related genetic mutations in an convenience cohort [ Time Frame: 6 months ]
    Identify people with Parkinson's who have genetic mutations to advance basic science and clinical research.

  2. Educating people with Parkinson's of their genetic mutation status through genetic testing and counseling [ Time Frame: 6 months ]
    People who are informed of their genetic status may be empowered to learn more about their disease and participant in clinical research.

Biospecimen Retention:   Samples With DNA
Isolated DNA from buccal swab or whole blood.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Any person with probable diagnosis of Parkinson's disease according to the Movement Disorders Society criteria.

Inclusion Criteria:

  • Study Population 1: PWP (open for recruitment)

    1. Meet Movement Disorder Society (MDS) Clinical Diagnostic Criteria for Parkinson's Disease: probable diagnosis.
    2. Willingness to undergo genetic testing, and choose to be informed of genetic testing results for GBA, LRRK2 and 5 additional PD related genes (SNCA, VPS35, PRKN, PINK-1, PARK7).
    3. Capacity to give full informed consent in writing or electronically, and have read and signed the informed consent forms (ICFs) based on site clinician's determination.
    4. Able to perform study activities (including completion of either online, in-person or paper surveys).

Study Population 2: People at risk of developing PD (not open for recruitment)

1. Family members of Study Population 1 may be invited to participate in the study if confirmatory genetic testing is deemed necessary by the genetic testing laboratory.

Exclusion Criteria:

  1. Diagnosis of an atypical parkinsonian disorder (i.e., multiple system atrophy, progressive supranuclear palsy, dementia with Lewy bodies, corticobasal syndrome), including that due to medications, metabolic disorders, encephalitis, cerebrovascular disease, or normal pressure hydrocephalus.
  2. Individuals who have received a blood transfusion within the past 3 months.
  3. Individuals who have active hematologic malignancies such as lymphoma or leukemia.
  4. Individuals who have had a bone marrow transplant within the past 5 years.
  5. Under the age of 18

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04994015

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Contact: Kamalini Ghosh, MS 1-800-473-4636

Show Show 47 study locations
Sponsors and Collaborators
Parkinson's Foundation
Indiana University
Fulgent Genetics
The Parkinson Study Group
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Principal Investigator: James Beck, PhD Parkinson's Foundation
Principal Investigator: Roy N Alcalay, MS, MD Tel Aviv Sourasky Medical Center, Columbia University Irving Medical Center
  Study Documents (Full-Text)

Documents provided by Parkinson's Foundation:
Informed Consent Form  [PDF] April 26, 2021

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Responsible Party: Parkinson's Foundation Identifier: NCT04994015    
Other Study ID Numbers: PDGENE-PF
First Posted: August 6, 2021    Key Record Dates
Last Update Posted: May 7, 2024
Last Verified: May 2024

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Parkinson's Foundation:
Genetic Counseling
Whole Genome Sequencing
Additional relevant MeSH terms:
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Parkinson Disease
Parkinsonian Disorders
Basal Ganglia Diseases
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Movement Disorders
Neurodegenerative Diseases