TY - JOUR
T1 - Whole Clinic Research Enrollment in Parkinson's Disease
T2 - The Molecular Integration in Neurological Diagnosis (MIND) Study
AU - Tropea, Thomas F.
AU - Amari, Noor
AU - Han, Noah
AU - Rick, Jacqueline
AU - Suh, Eunran
AU - Akhtar, Rizwan S.
AU - Dahodwala, Nabila
AU - Deik, Andres
AU - Gonzalez-Alegre, Pedro
AU - Hurtig, Howard
AU - Siderowf, Andrew
AU - Spindler, Meredith
AU - Stern, Matthew
AU - Thenganatt, Mary Ann
AU - Weintraub, Daniel
AU - Willis, Allison W.
AU - Van Deerlin, Vivianna
AU - Chen-Plotkin, Alice
N1 - Funding Information:
The authors would like to acknowledge our patients for their generous participation in this study, and Travis Unger and Sam Rudovsky for technical support, and the clinical research associates at the University of Pennsylvania. This research was supported by the NIH (R01-NS115139, P50-NS06284, U19-AG062418), and the Penn Center for Precision Medicine. ACP is additionally supported by the Parker Family Chair. TFT is additionally supported by the NIH/NINDS (K23 NS114167).
Publisher Copyright:
© 2021 - IOS Press. All rights reserved.
PY - 2021
Y1 - 2021
N2 - Background: Observational studies in Parkinson's disease (PD) have focused on relatively small numbers of research participants who are studied extensively. The Molecular Integration in Neurological Diagnosis Initiative at the University of Pennsylvania aims to characterize molecular and clinical features of PD in every patient in a large academic center. Objective: To determine the feasibility and interest in a global-capture biomarker research protocol. Additionally, to describe the clinical characteristics and GBA and LRRK2 variant carrier status among participants. Methods: All patients at UPenn with a clinical diagnosis of PD were eligible. Informed consent included options for access to the medical record, future recontact, and use of biosamples for additional studies. A blood sample and a completed questionnaire were obtained from participants. Targeted genotyping for four GBA and eight LRRK2 variants was performed, with plasma and DNA banked for future research. Results: Between September 2018 and December 2019, 704 PD patients were approached for enrollment; 652 (92.6%) enrolled, 28 (3.97%) declined, and 24 (3.41%) did not meet eligibility criteria. Median age was 69 (IQR 63_75) years, disease duration was 5.41 (IQR 2.49_9.95) years, and 11.10%of the cohort was non-white. Disease risk-associated variants in GBA were identified in 39 participants (5.98%) and in LRRK2 in 16 participants (2.45%). Conclusions: We report the clinical and genetic characteristics of PD patients in an all-comers, global capture protocol from an academic center. Patient interest in participation and yield for identification of GBA and LRRK2 mutation carriers is high, demonstrating feasibility of PD clinic-wide molecular characterization.
AB - Background: Observational studies in Parkinson's disease (PD) have focused on relatively small numbers of research participants who are studied extensively. The Molecular Integration in Neurological Diagnosis Initiative at the University of Pennsylvania aims to characterize molecular and clinical features of PD in every patient in a large academic center. Objective: To determine the feasibility and interest in a global-capture biomarker research protocol. Additionally, to describe the clinical characteristics and GBA and LRRK2 variant carrier status among participants. Methods: All patients at UPenn with a clinical diagnosis of PD were eligible. Informed consent included options for access to the medical record, future recontact, and use of biosamples for additional studies. A blood sample and a completed questionnaire were obtained from participants. Targeted genotyping for four GBA and eight LRRK2 variants was performed, with plasma and DNA banked for future research. Results: Between September 2018 and December 2019, 704 PD patients were approached for enrollment; 652 (92.6%) enrolled, 28 (3.97%) declined, and 24 (3.41%) did not meet eligibility criteria. Median age was 69 (IQR 63_75) years, disease duration was 5.41 (IQR 2.49_9.95) years, and 11.10%of the cohort was non-white. Disease risk-associated variants in GBA were identified in 39 participants (5.98%) and in LRRK2 in 16 participants (2.45%). Conclusions: We report the clinical and genetic characteristics of PD patients in an all-comers, global capture protocol from an academic center. Patient interest in participation and yield for identification of GBA and LRRK2 mutation carriers is high, demonstrating feasibility of PD clinic-wide molecular characterization.
KW - GBA
KW - LRRK2
KW - Parkinson's disease
KW - clinical protocols
UR - http://www.scopus.com/inward/record.url?scp=85104314803&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85104314803&partnerID=8YFLogxK
U2 - 10.3233/JPD-202406
DO - 10.3233/JPD-202406
M3 - Article
C2 - 33492247
AN - SCOPUS:85104314803
SN - 1877-7171
VL - 11
SP - 757
EP - 765
JO - Journal of Parkinson's disease
JF - Journal of Parkinson's disease
IS - 2
ER -