PDGENE-PF: Parkinson’s Foundation PD GENEration Genetic Registry

Purpose

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.

Inclusion Criteria

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

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.

Study Population

Any person with probable diagnosis of Parkinson's disease according to the Movement Disorders Society criteria.

Exclusion Criteria

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
Sushma Kola, MD
Movement Disorders Neurology
Forbes Hospital
Jefferson Hospital
Saint Vincent Hospital
AHN Wexford Hospital
Contact

For more information about this trial, please send an email to ClinicalTrials@ahn.org.

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