Objective: To describe the clinical characteristics and the frequency of GBA and LRRK2 variants in the Parkinson’s disease (PD) patient population at The University of Pennsylvania Parkinson’s Disease and Movement Disorders Center (PDMDC).

Background: Observational studies in PD research have focused intensely on small numbers of dedicated research participants. This approach is valuable for many research questions; however, it falls short in capturing the molecular and genetic variability across the PD spectrum. The MIND Initiative was developed to characterize the genetic and molecular features of PD by approaching every patient in a large academic movement disorders center. This approach allows for greater inclusion in research studies in PD, and expands biobanking of blood and DNA.

Method: The MIND Initiative is an inception cohort study of participants with a clinical diagnosis of PD that captures every interested PD patient followed at the PDMDC. Participants complete a brief clinical questionnaire and DNA is isolated from a blood sample. Optional permissions for access to the medical record, future recontact about other studies, and the use of samples for additional studies are obtained during the informed consent process. Targeted genotyping for eight LRRK2 and four GBA variants is performed for all participants. Plasma and DNA are banked.

Results: Between September, 2018 and December, 2019 652 PD subjects were enrolled, with a median age of 69 (IQR 63-75), and median disease duration of 5.4 (IQR 2.5-9.9) years. Among those screened and approached, 28 patients (3.9%) declined participation. One-hundred percent opted to allow access to their medical record and future recontact about other research studies, while >99% opted to allow the use of their samples for additional studies. Questionnaires were collected for 99% of participants and motor and non-motor complications of PD are described. GBA variants were identified in 39 participants (6.0% of cohort), LRRK2 variants in 16 participants (2.5% of cohort). Two participants carried a GBA and LRRK2 variant (0.3% of cohort).

Conclusion: This is the first report to demonstrate the clinical and genetic characteristics of a whole academic center PD clinic population. Patient interest in research participation and future recontact for additional research is high.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-and-genetic-characteristics-of-the-university-of-pennsylvania-parkinsons-disease-population-results-from-the-molecular-integration-in-neurological-diagnosis-mind-initiative/