--- title: Provide Parkinson genetic testing results nct_id: NCT04994015 status: RECRUITING sponsor: "Parkinson's Foundation" study_type: OBSERVATIONAL canonical_url: "https://parkinsonspathways.com/trial/NCT04994015" clinicaltrials_gov: "https://clinicaltrials.gov/study/NCT04994015" last_fetched: "2026-05-10T14:02:30.116Z" source: "Parkinson's Pathways (curated)" --- # Provide Parkinson genetic testing results **Goal (in five words):** Provide Parkinson genetic testing results **Official Title:** Parkinson's Foundation PD GENEration Genetic Registry **Trial ID:** [NCT04994015](https://clinicaltrials.gov/study/NCT04994015) ## Key Facts - **Status:** RECRUITING - **Study Type:** OBSERVATIONAL - **Sponsor:** Parkinson's Foundation - **Target Enrollment:** 25000 participants - **Start Date:** 2020-12-20 - **Completion Date:** 2026-06-30 - **Conditions:** Parkinson's Disease - **Interventions:** Lab Assay for seven genetic variants for Parkinson's Disease - **Intervention Types:** DEVICE ## Summary For Families The goal is to build a large genetic registry to find Parkinson's-linked gene changes and help match people to gene-focused research, understand how genetics affect symptoms, and guide future care. The approach is a lab genetic test that looks for variants in seven PD-related genes, GBA, LRRK2, SNCA, VPS35, PRKN, PINK1, and PARK7, and participants can choose to be told their results; this is observational, it does not change your medications. The project can also invite family members for confirmatory testing when needed. Adults 18 and older with a probable Parkinson's diagnosis who can give informed consent and complete surveys are eligible, while people with atypical parkinsonism, recent blood transfusion, active blood cancers, or recent bone marrow transplant are excluded. ## Eligibility - **Minimum age:** 18 Years - **Sex:** ALL ### Full 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 ``` ## Locations (56) - University of Alabama Birmingham, Birmingham, Alabama, United States _(33.5207, -86.8025)_ - Fariba Rahimi — (CONTACT) — faribarahimi@uabmc.edu - Marissa Dean, MD — (PRINCIPAL_INVESTIGATOR) - MD First Research, Chandler, Arizona, United States _(33.3062, -111.8413)_ - Barrow Neurological Institute, Phoenix, Arizona, United States _(33.4484, -112.0740)_ - Caitlin Goodman — (CONTACT) — caitlin.goodman@commonspirit.org - Holly Shill, MD — (PRINCIPAL_INVESTIGATOR) - University of Arkansas, Fayetteville, Arkansas, United States _(36.0626, -94.1574)_ - Kennetha Newman — (CONTACT) — newmankennethal@uams.edu - Rohit Dhall, MD — (PRINCIPAL_INVESTIGATOR) - University of California San Diego (UCSD), La Jolla, California, United States _(32.8473, -117.2742)_ - Lisa Solomon — (CONTACT) — 858-822-5873 — ldamron@health.ucsd.edu - Irene Litvan, MD — (PRINCIPAL_INVESTIGATOR) - University of California Los Angeles, Los Angeles, California, United States _(34.0522, -118.2437)_ - Alexandra Shurlock — (CONTACT) — Ashurlock@mednet.ucla.edu - Jeff Bronstein, MD, PhD — (PRINCIPAL_INVESTIGATOR) - University of California San Francisco (UCSF), San Francisco, California, United States _(37.7749, -122.4194)_ - Aaron Daley — (CONTACT) — aaron.daley@ucsf.edu - Jill Ostrem, MD — (PRINCIPAL_INVESTIGATOR) - University of Colorado Anschutz, Aurora, Colorado, United States _(39.7294, -104.8319)_ - Janet Clarke — (CONTACT) — janet.clarke@cuanschutz.edu - Jeanne Feuerstein, MD — (PRINCIPAL_INVESTIGATOR) - Hartford Healthcare, Hartford, Connecticut, United States _(41.7637, -72.6851)_ - Brandon Canty — (CONTACT) — brandon.canty@hhchealth.org - Joy Antonelle DeMarcaida, MD — (PRINCIPAL_INVESTIGATOR) - Aventura Neurology - Visionary Investigators Network, Aventura, Florida, United States _(25.9565, -80.1392)_ - Nicole Rios — (CONTACT) — nrios@vintrials.com - Julie Schwartzbard, MD — (PRINCIPAL_INVESTIGATOR) - Parkinson's Disease & Movement Disorder Center of Boca Raton, Boca Raton, Florida, United States _(26.3587, -80.0831)_ - Karla Arias — (CONTACT) — karias@parkinsonscenter.org - Karina Weldon — (CONTACT) — kweldon@parkinsonscenter.org - Stuart Isaacson, MD — (PRINCIPAL_INVESTIGATOR) - University of Florida, Gainesville, Florida, United States _(29.6516, -82.3248)_ - Amanda Fessenden — (CONTACT) — amanda.fessenden@neurology.ufl.edu - Irene Andonia Malaty, MD — (PRINCIPAL_INVESTIGATOR) - University of Miami, Miami, Florida, United States _(25.7743, -80.1937)_ - Oriana Tarabay — (CONTACT) — oxt185@med.miami.edu - Carlos Singer, MD — (PRINCIPAL_INVESTIGATOR) - Ihtsham Haq, MD — (PRINCIPAL_INVESTIGATOR) - Henry Moore, MD — (SUB_INVESTIGATOR) - Cleveland Clinic Weston, Weston, Florida, United States _(26.1004, -80.3998)_ - Laura Duarte — (CONTACT) — duartel2@ccf.org - Tarannum Khan, MD — (PRINCIPAL_INVESTIGATOR) - Morehouse College, Atlanta, Georgia, United States _(33.7490, -84.3880)_ - Tamiko Durham — (CONTACT) — tdurham@msm.edu - Chantale Branson, MD — (PRINCIPAL_INVESTIGATOR) - The Queen's Health System, Honolulu, Hawaii, United States _(21.3069, -157.8583)_ - Malika Faouzi — (CONTACT) — mfaouzi@queens.org - Michiko Bruno, MD — (PRINCIPAL_INVESTIGATOR) - Fay Gao, MD — (SUB_INVESTIGATOR) - University of Illinois-Chicago, Chicago, Illinois, United States _(41.8500, -87.6500)_ - Vijay Palakuzhy — (CONTACT) — vpalakz@uic.edu - Yasaman Kianirad, MD — (PRINCIPAL_INVESTIGATOR) - Rush University, Chicago, Illinois, United States _(41.8500, -87.6500)_ - Nathan Krinickas — (CONTACT) — Nathan_Krinickas@rush.edu - Jacqueline Vanegas — (CONTACT) — Jacqueline_Vanegas@rush.edu - Deborah Hall, MD — (PRINCIPAL_INVESTIGATOR) - University of Chicago, Chicago, Illinois, United States _(41.8500, -87.6500)_ - Tomas Mercado — (CONTACT) — tmercado@bsd.uchicago.edu - Tao Xie, MD, PhD — (PRINCIPAL_INVESTIGATOR) - Northwestern University, Evanston, Illinois, United States _(42.0411, -87.6901)_ - Rachel Leewandowski — (CONTACT) — rachel.lewandowski@northwestern.edu - Niccolo Mencacci, MD — (PRINCIPAL_INVESTIGATOR) - Indiana University, Indianapolis, Indiana, United States _(39.7684, -86.1580)_ - Lauren Perrey-Moore — (CONTACT) — lperrey@iupui.edu - Elizabeth Zauber, MD — (PRINCIPAL_INVESTIGATOR) - University of Iowa, Iowa City, Iowa, United States _(41.6611, -91.5302)_ - Heena Olalde — (CONTACT) — heena-olalde@uiowa.edu - Annie Killoran, MD, MS — (PRINCIPAL_INVESTIGATOR) - University of Kansas, Lawrence, Kansas, United States _(38.9717, -95.2352)_ - April Langhammerr — (CONTACT) — alanghammer@kumc.edu - Rajesh Pahwa, MD — (PRINCIPAL_INVESTIGATOR) - University of Kentucky, Lexington, Kentucky, United States _(37.9887, -84.4777)_ - Renee Wagner — (CONTACT) — rpwagn2@uky.edu - Tritia Yamasaki, MD, PhD — (PRINCIPAL_INVESTIGATOR) - Louisiana State University, Shreveport, Louisiana, United States _(32.5251, -93.7502)_ - Mackenzie Williams — (CONTACT) — mackenzie.williams@lsuhs.edu - Elizabeth Disbrow, PhD — (PRINCIPAL_INVESTIGATOR) - Johns Hopkins, Baltimore, Maryland, United States _(39.2904, -76.6122)_ - Ebubechukwu Onyinanya — (CONTACT) — eonyina1@jhu.edu - Kelly Mills, MD — (PRINCIPAL_INVESTIGATOR) - University of Maryland, College Park, Maryland, United States _(38.9807, -76.9369)_ - Rebecca Weimer — (CONTACT) — rweimer@som.umaryland.edu - Massachusetts General Hospital (MGH), Boston, Massachusetts, United States _(42.3584, -71.0598)_ - Vanessa Ibrahim — (CONTACT) — vibrahim@mgh.harvard.edu - Anne-Marie Wills, MD — (PRINCIPAL_INVESTIGATOR) - BMC Community Hospital, Boston, Massachusetts, United States _(42.3584, -71.0598)_ - Madhuri Sangam — (CONTACT) — Madhuri.Sangam@bmc.org - Anna Hohler, MD — (PRINCIPAL_INVESTIGATOR) - Beth Israel Deaconess Medical Center (BIDMC), Boston, Massachusetts, United States _(42.3584, -71.0598)_ - Jacqueline Forbes — (CONTACT) — jforbes1@bidmc.harvard.edu - David Simon, MD — (PRINCIPAL_INVESTIGATOR) - Struthers Parkinson's Center - HealthPartners Park Nicollet, Golden Valley, Minnesota, United States _(45.0097, -93.3491)_ - Taylor Billeadeau — (CONTACT) — Taylor.R.Billeadeau@HealthPartners.Com - Martha Nance, MD — (PRINCIPAL_INVESTIGATOR) - Rutgers University, New Brunswick, New Jersey, United States _(40.4862, -74.4518)_ - Edward Scot Stenroos, MD — (CONTACT) — stenroos@rwjms.rutgers.edu - Gian Pal — (PRINCIPAL_INVESTIGATOR) - University of New Mexico, Albuquerque, New Mexico, United States _(35.0845, -106.6511)_ - Anna Tingin — (CONTACT) — ATingin@salud.unm.edu - Amanda Deligtisch, MD — (PRINCIPAL_INVESTIGATOR) - New York University, New York, New York, United States _(40.7143, -74.0060)_ - Kelly Astudillo — (CONTACT) — kelly.astudillo@nyulangone.org - Giulietta Riboldi, MD, PhD — (PRINCIPAL_INVESTIGATOR) - Mount Sinai, New York, New York, United States _(40.7143, -74.0060)_ - Maya Rawal — (CONTACT) — maya.rawal@mountsinai.org - Susan Bressman, MD — (PRINCIPAL_INVESTIGATOR) - Columbia University, New York, New York, United States _(40.7143, -74.0060)_ - Alexander Haimovich — (CONTACT) — ah3912@cumc.columbia.edu - Linn Katus, DO — (PRINCIPAL_INVESTIGATOR) - University of North Carolina - Chapel Hill, Chapel Hill, North Carolina, United States _(35.9132, -79.0558)_ - Hans Nettescheim — (CONTACT) — Hans_Nettesheim@med.unc.edu - Claudia Testa, MD, PhD — (PRINCIPAL_INVESTIGATOR) - Atrium Health, Charlotte, North Carolina, United States _(35.2271, -80.8431)_ - Gina M'Buyamba — (CONTACT) — gina.mbuyamba@atriumhealth.org - Nicholas Fleming, MD — (PRINCIPAL_INVESTIGATOR) - University of Cincinnati, Cincinnati, Ohio, United States _(39.1271, -84.5144)_ - Kelly DeLano — (CONTACT) — delanoky@ucmail.uc.edu - Emily Hill, MD — (PRINCIPAL_INVESTIGATOR) - Case Western Reserve University, Cleveland, Ohio, United States _(41.4995, -81.6954)_ - Eileen Terrell — (CONTACT) — eileen.terrell@UHhospitals.org - Steven Gunzler, MD — (PRINCIPAL_INVESTIGATOR) - Cleveland Clinic, Cleveland, Ohio, United States _(41.4995, -81.6954)_ - Jerrod Cook — (CONTACT) — cookj6@ccf.org - Hubert Fernandez, MD — (PRINCIPAL_INVESTIGATOR) - Ohio State University, Columbus, Ohio, United States _(39.9612, -82.9988)_ - Kate Ambrogi — (CONTACT) — katherine.ambrogi@osumc.edu - Ariane Park, MD, PhD — (PRINCIPAL_INVESTIGATOR) - Oregon Health and Science University, Portland, Oregon, United States _(45.5234, -122.6762)_ - Emily Leonard — (CONTACT) — leonarde@ohsu.edu - Joseph Quinn, MD — (PRINCIPAL_INVESTIGATOR) - University of Pennsylvania, Philadelphia, Pennsylvania, United States _(39.9524, -75.1636)_ - Neda Almassi — (CONTACT) — Neda.Almassi@pennmedicine.upenn.edu - Rebecca Williamson, MD — (PRINCIPAL_INVESTIGATOR) - Thomas Jefferson University, Philadelphia, Pennsylvania, United States _(39.9524, -75.1636)_ - Michelle Roachman — (CONTACT) — michelle.roachman@jefferson.edu - Tsao-Wei Liang, MD — (PRINCIPAL_INVESTIGATOR) - Medical University of South Carolina, Charleston, South Carolina, United States _(32.7763, -79.9327)_ - Sandra Wilson — (CONTACT) — wilsosan@musc.edu - Gonzalo Revuelta, DO — (PRINCIPAL_INVESTIGATOR) - Vanderbilt University, Nashville, Tennessee, United States _(36.1659, -86.7844)_ - Jacqueline Harris — (CONTACT) — jacqueline.c.harris@vumc.org - Tom Davis, MD — (PRINCIPAL_INVESTIGATOR) - Baylor College of Medicine, Houston, Texas, United States _(29.7633, -95.3633)_ - Silvia Onofre — (CONTACT) — silvia.onofre@bcm.edu - Nora Vanegas, MD — (PRINCIPAL_INVESTIGATOR) - University of Texas at San Antonio, San Antonio, Texas, United States _(29.4241, -98.4936)_ - Carolyn Paiz — (CONTACT) — paizc@uthscsa.edu - Omalys Biggs Rodriguez — (CONTACT) — biggsrodrigu@uthscsa.edu - Oleni Okeanis Vaou, MD — (PRINCIPAL_INVESTIGATOR) - Intermountain Health, Murray, Utah, United States _(40.6669, -111.8880)_ - Nic Unsworth — (CONTACT) — Nic.Unsworth@imail.org - Kathleen McKee, MD — (PRINCIPAL_INVESTIGATOR) - Virginia Commonwealth University, Richmond, Virginia, United States _(37.5538, -77.4603)_ - Virginia Norris — (CONTACT) — virginia.norris@vcuhealth.org - Matthew Barrett, MD — (PRINCIPAL_INVESTIGATOR) - Evergreen Health, Kirkland, Washington, United States _(47.6815, -122.2087)_ - Nasir Hemat — (CONTACT) — nahemat@evergreenhealthcare.org - Pinky Agarwal, MD — (PRINCIPAL_INVESTIGATOR) - Inland Northwest Research, Spokane, Washington, United States _(47.6597, -117.4291)_ - Amanda Kiefer — (CONTACT) — akiefer@inwresearch.com - Jason Aldred, MD — (PRINCIPAL_INVESTIGATOR) - Medical College of Wisconsin, Milwaukee, Wisconsin, United States _(43.0389, -87.9065)_ - Jordan Bayola — (CONTACT) — jbayola@mcw.edu - Karen Blindauer, MD — (PRINCIPAL_INVESTIGATOR) - Toronto Western Hospital, Toronto, Ontario, Canada _(43.7064, -79.3986)_ - Nazish Ahmed — (CONTACT) — nazish.ahmed@uhnresearch.ca - Connie Marras, MD, PhD — (PRINCIPAL_INVESTIGATOR) - Tel Aviv Sourasky Medical Center, Tel Aviv, Israel _(32.0809, 34.7806)_ - Roni Cohen — (CONTACT) — ronicohen@tlvmc.gov.il - Penina Ponger, MD — (PRINCIPAL_INVESTIGATOR) - Roy N Alcalay, MD — (PRINCIPAL_INVESTIGATOR) ## Central Contacts - Kamalini Ghosh, MS — (CONTACT) — 1-800-473-4636 — kghosh@parkinson.org --- *Canonical: https://parkinsonspathways.com/trial/NCT04994015* *HTML version: https://parkinsonspathways.com/trial/NCT04994015* *Source data: https://clinicaltrials.gov/study/NCT04994015*