Deep Phenotyping of Parkinson's Disease
- PMID: 32444562
- PMCID: PMC7458535
- DOI: 10.3233/JPD-202006
Deep Phenotyping of Parkinson's Disease
Abstract
Phenotype is the set of observable traits of an organism or condition. While advances in genetics, imaging, and molecular biology have improved our understanding of the underlying biology of Parkinson's disease (PD), clinical phenotyping of PD still relies primarily on history and physical examination. These subjective, episodic, categorical assessments are valuable for diagnosis and care but have left gaps in our understanding of the PD phenotype. Sensors can provide objective, continuous, real-world data about the PD clinical phenotype, increase our knowledge of its pathology, enhance evaluation of therapies, and ultimately, improve patient care. In this paper, we explore the concept of deep phenotyping-the comprehensive assessment of a condition using multiple clinical, biological, genetic, imaging, and sensor-based tools-for PD. We discuss the rationale for, outline current approaches to, identify benefits and limitations of, and consider future directions for deep clinical phenotyping.
Keywords: Autonomic nervous system; Parkinson’s disease; gait; natural history; observational study; phenotype; real-world data; sleep; smartphone; social behavior.
Conflict of interest statement
Ray Dorsey has served as a consultant to 23andMe, Abbott, Abbvie, American Well, Biogen, Clintrex, DeciBio, Denali Therapeutics, GlaxoSmithKline, Grand Rounds, Karger, Lundbeck, MC10, MedAvante, Medical-legal services, Mednick Associates, National Institute of Neurological Disorders and Stroke, Olson Research Group, Optio, Origent Data Sciences, Inc., Prilenia, Putnam Associates, Roche, Sanofi, Shire, Sunovion Pharmaceuticals, Teva, UCB, and Voyager Therapeutics. He has received honoraria from the American Academy of Neurology, American Neurological Association, and University of Michigan. He has received research support from Abbvie, Acadia Pharmaceuticals, AMC Health, BioSensics, Burroughs Wellcome Fund, Davis Phinney Foundation, Duke University, Food and Drug Administration, GlaxoSmithKline, Greater Rochester Health Foundation, Huntington Study Group, Michael J. Fox Foundation, National Institutes of Health/National Institute of Neurological Disorders and Stroke, National Science Foundation, Nuredis, Inc., Patient-Centered Outcomes Research Institute, Pfizer, Prana Biotechnology, Raptor Pharmaceuticals, Roche, Safra Foundation, Teva Pharmaceuticals, and University of California Irvine. Dr. Dorsey provides editorial services for Karger Publications has ownership interests in Blackfynn, a data integration company, and Grand Rounds, an online second opinion service.
Larsson Omberg has received research support from the National Institutes of Health/National Institute of Neurological Disorders and Stroke.
Jamie Adams has received research support from Biogen, BioSensics, Empire Clinical Research Investigator Program, Michael J. Fox Foundation, National Institutes of Health/National Institute of Neurological Disorders and Stroke, Pfizer, and Safra Foundation.
Katherine Amodeo serves as Co-Investigator for the Lewy Body Dementia Association Research Center of Excellence (LBDA-RCOE) at the University of Rochester Medical Center. She has served as PI and Co-I for PD and DLB clinical trials funded by Acadia Pharmaceuticals, EIP Pharma, Michael J. Fox Foundation, National Institutes of Health/National Institute of Neurological Disorders and Stroke, and Roche. She serves as medical monitor for a PD trial funded by Biogen. Dr. Amodeo’s fellowship in Movement Disorders was funded by the Safra Foundation and Michael J. Fox Foundation.
Erika Augustine has served as a consultant to Biomarin Pharma, Neurogene, Regenxbio, and Beyond Batten Disease Foundation. She has received research support from Abeona Therapeutics, Neurogene, and National Institutes of Health/National Institute of Neurological Disorders and Stroke. Dr. Augustine has served as central rater for a clinical trial funded by Signant Health.
Zachary Kabelac is co-founder of Emerald Innovations, Inc., which produces similar radio wave devices to those used in the reported research. Dr. Kabelac has been issued two patents: US9753131B2 and US20170042432A1.
Dina Katabi is co-founder of Emerald Innovations, Inc., which produces similar radio wave devices to those used in the reported research. Dr. Katabi has five patents, either pending or issued: WO2015102713A3, US20190188533A1, WO2018183106A1, WO2018013192A2, and US20170042432A1.
Karl Kieburtz has served as a consultant to Blackfynn, Clintrex, Genentech/Roche, and Novartis. He has received research support from National Institutes of Health (National Institute of Neurological Disorders and Stroke and National Center for Advancing Translational Sciences) and Michael J. Fox Foundation. Dr. Kieburtz has ownership interests in Clintrex, Hoover Brown LLC, and Safe Therapuetics.
Max Little has received an academic grant from the Michael J. Fox Foundation.
Suchi Saria has received research support from American Heart Association, Child Health Imprints, Defense Advanced Research Projects Agency, National Institutes of Health/National Institute of Neurological Disorders and Stroke, and National Science Foundation.
Giovanni Schifitto has received research support from the National Institutes of Health/National Institute of Neurological Disorders and Stroke.
Ruth Schneider has received research support from Acadia Pharmaceuticals, Biohaven Pharmaceuticals, Canadian Institute of Health, Massachusetts General Hospital, Michael J. Fox Foundation, National Institutes of Health/National Institute of Neurological Disorders and Stroke, Nuredis, Inc., and Pfizer.
Gaurav Sharma has received research support from MC10.
Ira Shoulson is founder and principal manager of Grey Matter Technologies LLC and is compensated by the company for work related to the reported research.
Christopher Tarolli has received research support from American Academy of Neurology Institute, BioSensics, Greater Rochester Health Foundation, Michael J. Fox Foundation, and National Institutes of Health/National Institute of Neurological Disorders and Stroke. He has received honoraria from the American Academy of Neurology and Davis Phinney Foundation. Dr. Tarolli has received clinical training support from Medtronic.
Michael McDermott has received research support from National Institutes of Health/National Institute of Neurological Disorders and Stroke and Parkinson Study Group. Dr. McDermott has been compensated by Cynapsus Therapetuics, Prilenia, and Voyager Therapeutics for service on a Data Safety and Monitoring Board.
Emma Waddell, Roy Adams, Rafayet Ali, Abigail Arky, Karthik Dinesh, Ehsan Hoque, Alistair Glidden, Estella Jensen-Roberts, Daniel Kinel, Karlo Lizarraga, Taylor Myers, Sara Riggare, Spencer Rosero, Anna Stevenson, and Jiebo Luo have no disclosures.
Figures
