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. 2022 Aug 11;8(5):e200008.
doi: 10.1212/NXG.0000000000200008. eCollection 2022 Oct.

A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease: Baseline Results

Stella Jensen-Roberts  1 , Taylor L Myers  1 , Peggy Auinger  1 , Paul Cannon  1 , Helen M Rowbotham  1 , Daniella Coker  1 , Eli Chanoff  1 , Julia Soto  1 , Meghan Pawlik  1 , Katherine Amodeo  1 , Saloni Sharma  1 , Blanca Valdovinos  1 , Renee Wilson  1 , Aayush Sarkar  1 , Michael P McDermott  1 , Roy N Alcalay  1 , Kevin Biglan  1 , Daniel Kinel  1 , Caroline Tanner  1 , Reni Winter-Evans  1 , Erika F Augustine  1 , Robert G Holloway  1 , E Ray Dorsey  1 , Ruth B Schneider  1
Affiliations

A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease: Baseline Results

Stella Jensen-Roberts et al. Neurol Genet. .

Abstract

Background and objectives: To recruit and characterize a national cohort of individuals who have a genetic variant (LRRK2 G2019S) that increases risk of Parkinson disease (PD), assess participant satisfaction with a decentralized, remote research model, and evaluate interest in future clinical trials.

Methods: In partnership with 23andMe, Inc., a personal genetics company, LRRK2 G2019S carriers with and without PD were recruited to participate in an ongoing 36-month decentralized, remote natural history study. We examined concordance between self-reported and clinician-determined PD diagnosis. We applied the Movement Disorder Society Prodromal Parkinson's Disease Criteria and asked investigators to identify concern for parkinsonism to distinguish participants with probable prodromal PD. We compared baseline characteristics of LRRK2 G2019S carriers with PD, with prodromal PD, and without PD.

Results: Over 15 months, we enrolled 277 LRRK2 G2019S carriers from 34 states. At baseline, 60 had self-reported PD (mean [SD] age 67.8 years [8.4], 98% White, 52% female, 80% Ashkenazi Jewish, and 67% with a family history of PD), and 217 did not (mean [SD] age 53.7 years [15.1], 95% White, 59% female, 73% Ashkenazi Jewish, and 57% with a family history of PD). Agreement between self-reported and clinician-determined PD status was excellent (κ = 0.94, 95% confidence interval 0.89-0.99). Twenty-four participants had prodromal PD; 9 met criteria for probable prodromal PD and investigators identified concern for parkinsonism in 20 cases. Compared with those without prodromal PD, participants with prodromal PD were older (63.9 years [9.0] vs 51.9 years [15.1], p < 0.001), had higher modified Movement Disorders Society-Unified Parkinson's Disease Rating Scale motor scores (5.7 [4.3] vs 0.8 [2.1], p < 0.001), and had higher Scale for Outcomes in PD for Autonomic Symptoms scores (11.5 [6.2] vs 6.9 [5.7], p = 0.002). Two-thirds of participants enrolled were new to research, 97% were satisfied with the overall study, and 94% of those without PD would participate in future preventive clinical trials.

Discussion: An entirely remote national cohort of LRRK2 G2019S carriers was recruited from a single site. This study will prospectively characterize a large LRRK2 G2019S cohort, refine a new model of clinical research, and engage new research participants willing to participate in future therapeutic trials.

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Figures

Figure 1
Figure 1. Flowchart of Study Participants
*Participants were instructed to choose all that applied. COVID-19 = coronavirus disease 2019; PD = Parkinson disease.
Figure 2
Figure 2. Location of Study Participants
Figure 3
Figure 3. Participant Satisfaction With Video Visits
Figure 4
Figure 4. Percent Willing to Participate in PD Clinical Trials
*Responses include only individuals without self-reported PD, those with self-reported PD were not asked. PD = Parkinson disease.
See this image and copyright information in PMC

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