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A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease: Baseline Results
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 trial...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9372873/ https://www.ncbi.nlm.nih.gov/pubmed/35966918 http://dx.doi.org/10.1212/NXG.0000000000200008 |
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author | Jensen-Roberts, Stella Myers, Taylor L. Auinger, Peggy Cannon, Paul Rowbotham, Helen M. Coker, Daniella Chanoff, Eli Soto, Julia Pawlik, Meghan Amodeo, Katherine Sharma, Saloni Valdovinos, Blanca Wilson, Renee Sarkar, Aayush McDermott, Michael P. Alcalay, Roy N. Biglan, Kevin Kinel, Daniel Tanner, Caroline Winter-Evans, Reni Augustine, Erika F. Holloway, Robert G. Dorsey, E. Ray Schneider, Ruth B. |
author_facet | Jensen-Roberts, Stella Myers, Taylor L. Auinger, Peggy Cannon, Paul Rowbotham, Helen M. Coker, Daniella Chanoff, Eli Soto, Julia Pawlik, Meghan Amodeo, Katherine Sharma, Saloni Valdovinos, Blanca Wilson, Renee Sarkar, Aayush McDermott, Michael P. Alcalay, Roy N. Biglan, Kevin Kinel, Daniel Tanner, Caroline Winter-Evans, Reni Augustine, Erika F. Holloway, Robert G. Dorsey, E. Ray Schneider, Ruth B. |
author_sort | Jensen-Roberts, Stella |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9372873 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Wolters Kluwer |
record_format | MEDLINE/PubMed |
spelling | pubmed-93728732022-08-12 A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease: Baseline Results Jensen-Roberts, Stella Myers, Taylor L. Auinger, Peggy Cannon, Paul Rowbotham, Helen M. Coker, Daniella Chanoff, Eli Soto, Julia Pawlik, Meghan Amodeo, Katherine Sharma, Saloni Valdovinos, Blanca Wilson, Renee Sarkar, Aayush McDermott, Michael P. Alcalay, Roy N. Biglan, Kevin Kinel, Daniel Tanner, Caroline Winter-Evans, Reni Augustine, Erika F. Holloway, Robert G. Dorsey, E. Ray Schneider, Ruth B. Neurol Genet Research Article 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. Wolters Kluwer 2022-08-11 /pmc/articles/PMC9372873/ /pubmed/35966918 http://dx.doi.org/10.1212/NXG.0000000000200008 Text en Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
spellingShingle | Research Article Jensen-Roberts, Stella Myers, Taylor L. Auinger, Peggy Cannon, Paul Rowbotham, Helen M. Coker, Daniella Chanoff, Eli Soto, Julia Pawlik, Meghan Amodeo, Katherine Sharma, Saloni Valdovinos, Blanca Wilson, Renee Sarkar, Aayush McDermott, Michael P. Alcalay, Roy N. Biglan, Kevin Kinel, Daniel Tanner, Caroline Winter-Evans, Reni Augustine, Erika F. Holloway, Robert G. Dorsey, E. Ray Schneider, Ruth B. A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease: Baseline Results |
title | A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease: Baseline Results |
title_full | A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease: Baseline Results |
title_fullStr | A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease: Baseline Results |
title_full_unstemmed | A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease: Baseline Results |
title_short | A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease: Baseline Results |
title_sort | remote longitudinal observational study of individuals at genetic risk for parkinson disease: baseline results |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9372873/ https://www.ncbi.nlm.nih.gov/pubmed/35966918 http://dx.doi.org/10.1212/NXG.0000000000200008 |
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