Parkinson's Foundation PD GENEration Genetic Registry

• ClinicalTrials.gov Identifier: NCT04994015
• Recruitment Status: Recruiting
• First Posted: August 6, 2021
• Last Update Posted: May 7, 2024
• Sponsor: Parkinson's Foundation
• Collaborators: Indiana University; Fulgent Genetics; The Parkinson Study Group
• Information provided by (Responsible Party): Parkinson's Foundation

Tracking Information

• First Submitted Date: July 29, 2021
• First Posted Date: August 6, 2021
• Last Update Posted Date: May 7, 2024
• Actual Study Start Date: December 20, 2020
• Estimated Primary Completion Date: December 31, 2024 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: August 17, 2021)

• 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.
• 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.

Original Primary Outcome Measures (submitted: July 29, 2021)

• Feasibility of Genetic Testing [ Time Frame: 6 months ]
  The number of participants who deposit their genetic testing data to the Parkinson's Foundation's data repository.
• Feasibility of Banking of Genetic Test [ Time Frame: 6 months ]
  The number of participants who bank their residual DNA samples obtained from genetic testing to the Parkinson's Foundation biospecimen bank.

• Current Secondary Outcome Measures: Not Provided
• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Parkinson's Foundation PD GENEration Genetic Registry
• Official Title: Parkinson's Foundation PD GENEration Genetic Registry
• Brief Summary: Development of a central repository for PD-related genomic data for future research.
• 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.
• Study Type: Observational [Patient Registry]
• Study Design: Observational Model: Case-Only; Time Perspective: Cross-Sectional
• Target Follow-Up Duration: 30 Days

Biospecimen

Retention:   Samples With DNA

Description:

Isolated DNA from buccal swab or whole blood.

• Sampling Method: Non-Probability Sample
• Study Population: Any person with probable diagnosis of Parkinson's disease according to the Movement Disorders Society criteria.
• Condition: Parkinson's Disease

Intervention

Device: Lab Assay for seven genetic variants for Parkinson's Disease

Counseling provided to participant by site clinician/physician/genetic counselor.

• Study Groups/Cohorts: Not Provided
• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Recruiting
• Estimated Enrollment (submitted: May 6, 2024): 25000
• Original Estimated Enrollment (submitted: July 29, 2021): 15000
• Estimated Study Completion Date: June 1, 2025
• Estimated Primary Completion Date: December 31, 2024 (Final data collection date for primary outcome measure)

Eligibility 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

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 18 Years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

Contacts

Contact: Kamalini Ghosh, MS; 1-800-473-4636; kghosh@parkinson.org

• Listed Location Countries: Canada, United States

Administrative Information

• NCT Number: NCT04994015
• Other Study ID Numbers: PDGENE-PF
• Has Data Monitoring Committee: No

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

• IPD Sharing Statement: Not Provided
• Current Responsible Party: Parkinson's Foundation
• Original Responsible Party: Same as current
• Current Study Sponsor: Parkinson's Foundation
• Original Study Sponsor: Same as current

Collaborators

• Indiana University
• Fulgent Genetics
• The Parkinson Study Group

Investigators

• 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

• PRS Account: Parkinson's Foundation
• Verification Date: May 2024