Clinical trial NCT04994015: Parkinson's Foundation PD GENEration Genetic Registry
Official title: Parkinson's Foundation PD GENEration Genetic Registry
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Parkinson's Disease
Keywords: Genetics
Genetic Counseling
Whole Genome Sequencing
Lead sponsor: Parkinson's Foundation
Sponsor class: OTHER
Collaborators: name: Indiana University
name: Fulgent Genetics
name: The Parkinson Study Group
First posted: 2021-08-06
Enrollment: 25000
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Any person with probable diagnosis of Parkinson's disease according to the Movement Disorders Society criteria.

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.

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

Primary outcomes:
measure: Prevalence of Parkinson's related genetic mutations in an convenience cohort
timeFrame: 6 months
measure: Educating people with Parkinson's of their genetic mutation status through genetic testing and counseling
timeFrame: 6 months
Secondary outcomes:
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: University of Alabama Birmingham
state: Alabama
city: Chandler
country: United States
facility: MD First Research
state: Arizona
city: Phoenix
country: United States
facility: Barrow Neurological Institute
state: Arizona
city: Fayetteville
country: United States
facility: University of Arkansas
state: Arkansas
city: La Jolla
country: United States
facility: University of California San Diego (UCSD)
state: California
city: Los Angeles
country: United States
facility: University of California Los Angeles
state: California
city: San Francisco
country: United States
facility: University of California San Francisco (UCSF)
state: California
city: Aurora
country: United States
facility: University of Colorado Anschutz
state: Colorado
city: Hartford
country: United States
facility: Hartford Healthcare
state: Connecticut
city: Aventura
country: United States
facility: Aventura Neurology - Visionary Investigators Network
state: Florida
city: Boca Raton
country: United States
facility: Parkinson's Disease & Movement Disorder Center of Boca Raton
state: Florida
city: Gainesville
country: United States
facility: University of Florida
state: Florida
city: Miami
country: United States
facility: University of Miami
state: Florida
city: Weston
country: United States
facility: Cleveland Clinic Weston
state: Florida
city: Atlanta
country: United States
facility: Morehouse College
state: Georgia
city: Honolulu
country: United States
facility: The Queen's Health System
state: Hawaii
city: Chicago
country: United States
facility: University of Illinois-Chicago
state: Illinois
city: Chicago
country: United States
facility: Rush University
state: Illinois
city: Chicago
country: United States
facility: University of Chicago
state: Illinois
city: Evanston
country: United States
facility: Northwestern University
state: Illinois
city: Indianapolis
country: United States
facility: Indiana University
state: Indiana
city: Iowa City
country: United States
facility: University of Iowa
state: Iowa
city: Lawrence
country: United States
facility: University of Kansas
state: Kansas
city: Lexington
country: United States
facility: University of Kentucky
state: Kentucky
city: Shreveport
country: United States
facility: Louisiana State University
state: Louisiana
city: Baltimore
country: United States
facility: Johns Hopkins
state: Maryland
city: College Park
country: United States
facility: University of Maryland
state: Maryland
city: Boston
country: United States
facility: Massachusetts General Hospital (MGH)
state: Massachusetts
city: Boston
country: United States
facility: BMC Community Hospital
state: Massachusetts
city: Boston
country: United States
facility: Beth Israel Deaconess Medical Center (BIDMC)
state: Massachusetts
city: Golden Valley
country: United States
facility: Struthers Parkinson's Center - HealthPartners Park Nicollet
state: Minnesota
city: New Brunswick
country: United States
facility: Rutgers University
state: New Jersey
city: Albuquerque
country: United States
facility: University of New Mexico
state: New Mexico
city: New York
country: United States
facility: New York University
state: New York
city: New York
country: United States
facility: Mount Sinai
state: New York
city: New York
country: United States
facility: Columbia University
state: New York
city: Chapel Hill
country: United States
facility: University of North Carolina - Chapel Hill
state: North Carolina
city: Charlotte
country: United States
facility: Atrium Health
state: North Carolina
city: Cincinnati
country: United States
facility: University of Cincinnati
state: Ohio
city: Cleveland
country: United States
facility: Case Western Reserve University
state: Ohio
city: Cleveland
country: United States
facility: Cleveland Clinic
state: Ohio
city: Columbus
country: United States
facility: Ohio State University
state: Ohio
city: Portland
country: United States
facility: Oregon Health and Science University
state: Oregon
city: Philadelphia
country: United States
facility: University of Pennsylvania
state: Pennsylvania
city: Philadelphia
country: United States
facility: Thomas Jefferson University
state: Pennsylvania
city: Charleston
country: United States
facility: Medical University of South Carolina
state: South Carolina
city: Nashville
country: United States
facility: Vanderbilt University
state: Tennessee
city: Houston
country: United States
facility: Baylor College of Medicine
state: Texas
city: San Antonio
country: United States
facility: University of Texas at San Antonio
state: Texas
city: Murray
country: United States
facility: Intermountain Health
state: Utah
city: Richmond
country: United States
facility: Virginia Commonwealth University
state: Virginia
city: Kirkland
country: United States
facility: Evergreen Health
state: Washington
city: Spokane
country: United States
facility: Inland Northwest Research
state: Washington
city: Milwaukee
country: United States
facility: Medical College of Wisconsin
state: Wisconsin
city: Toronto
country: Canada
facility: Toronto Western Hospital
state: Ontario
city: Tel Aviv
country: Israel
facility: Tel Aviv Sourasky Medical Center
Study officials:
affiliation: Parkinson's Foundation
name: James Beck, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Tel Aviv Sourasky Medical Center, Columbia University Irving Medical Center
name: Roy N Alcalay, MS, MD
role: PRINCIPAL_INVESTIGATOR
References: