Parkinson's Disease
Conditions
Keywords
Genetics, Genetic Counseling, Whole Genome Sequencing
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.
Interventions
Counseling provided to participant by site clinician/physician/genetic counselor.
Sponsors
Parkinson's Foundation
Indiana University
Fulgent Genetics
The Parkinson Study Group
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of Parkinson's related genetic mutations in an convenience cohort | 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 | 6 months | People who are informed of their genetic status may be empowered to learn more about their disease and participant in clinical research. |
Countries
Canada, Israel, United States
Contacts
CONTACTKamalini Ghosh, MS
PRINCIPAL_INVESTIGATORJames Beck, PhD
Parkinson's Foundation
PRINCIPAL_INVESTIGATORRoy N Alcalay, MS, MD
Tel Aviv Sourasky Medical Center, Columbia University Irving Medical Center
Outcome results
None listed