Transitioning from Subtyping to Precision Medicine in Parkinson's Disease: A Purpose-Driven Approach.
Parkinson's disease
heterogeneity
purpose
subtypes
Journal
Movement disorders : official journal of the Movement Disorder Society
ISSN: 1531-8257
Titre abrégé: Mov Disord
Pays: United States
ID NLM: 8610688
Informations de publication
Date de publication:
20 Jan 2024
20 Jan 2024
Historique:
revised:
29
11
2023
received:
21
09
2023
accepted:
18
12
2023
medline:
20
1
2024
pubmed:
20
1
2024
entrez:
20
1
2024
Statut:
aheadofprint
Résumé
The International Parkinson and Movement Disorder Society (MDS) created a task force (TF) to provide a critical overview of the Parkinson's disease (PD) subtyping field and develop a guidance on future research in PD subtypes. Based on a literature review, we previously concluded that PD subtyping requires an ultimate alignment with principles of precision medicine, and consequently novel approaches were needed to describe heterogeneity at the individual patient level. In this manuscript, we present a novel purpose-driven framework for subtype research as a guidance to clinicians and researchers when proposing to develop, evaluate, or use PD subtypes. Using a formal consensus methodology, we determined that the key purposes of PD subtyping are: (1) to predict disease progression, for both the development of therapies (use in clinical trials) and prognosis counseling, (2) to predict response to treatments, and (3) to identify therapeutic targets for disease modification. For each purpose, we describe the desired product and the research required for its development. Given the current state of knowledge and data resources, we see purpose-driven subtyping as a pragmatic and necessary step on the way to precision medicine. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Références
Gibb WR, Lees AJ. The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease. J Neurol Neurosurg Psychiatry 1988;51(6):745-752.
Höglinger GU, Adler CH, Berg D, et al. Towards a biological definition of Parkinson's disease. Preprintsorg 2023;.
Mestre TA, Fereshtehnejad SM, Berg D, et al. Parkinson's disease subtypes: critical appraisal and recommendations. J Parkinsons Dis 2021;11(2):395-404.
Niederberger M, Koberich S, members of the DeWiss N. Coming to consensus: the Delphi technique. Eur J Cardiovasc Nurs 2021;20(7):692-695.
Ayre C, Scally AJ. Critical values for Lawshe's content validity ratio: revisiting the original methods of calculation. Meas Eval Counseling Dev 2014;47:79-86.
Cook SF, Bies RR. Disease progression modeling: key concepts and recent developments. Curr Pharmacol Rep 2016;2(5):221-230.
Severson KA, Chahine LM, Smolensky LA, et al. Discovery of Parkinson's disease states and disease progression modelling: a longitudinal data study using machine learning. Lancet Digit Health 2021;3(9):e555-e564.
Postuma RB, Bertrand JA, Montplaisir J, et al. Rapid eye movement sleep behavior disorder and risk of dementia in Parkinson's disease: a prospective study. Mov Disord 2012;27(6):720-726.
Chahine LM, Xie SX, Simuni T, et al. Longitudinal changes in cognition in early Parkinson's disease patients with REM sleep behavior disorder. Parkinsonism Relat Disord 2016;27:102-106.
Kim Y, Kim YE, Park EO, Shin CW, Kim HJ, Jeon B. REM sleep behavior disorder portends poor prognosis in Parkinson's disease: a systematic review. J Clin Neurosci 2018;47:6-13.
Real R, Martinez-Carrasco A, Reynolds RH, et al. Association between the LRP1B and APOE loci in the development of Parkinson's disease dementia. Brain 2022;.
Martinez Carrasco A, Real R, Lawton M, et al. Genome-wide analysis of motor progression in Parkinson disease. Neurol Genet 2023;9(5):e200092.
Tan MMX, Lawton MA, Jabbari E, et al. Genome-wide association studies of cognitive and motor progression in Parkinson's disease. Mov Disord 2021;36(2):424-433.
Liu G, Peng J, Liao Z, et al. Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease. Nat Genet 2021;53(6):787-793.
Zeighami Y, Fereshtehnejad SM, Dadar M, Collins DL, Postuma RB, Dagher A. Assessment of a prognostic MRI biomarker in early de novo Parkinson's disease. Neuroimage Clin 2019;24:101986.
Wilson J, Yarnall AJ, Craig CE, et al. Cholinergic basal forebrain volumes predict gait decline in Parkinson's disease. Mov Disord 2021;36(3):611-621.
Rizig M, Bandres-Ciga S, Makarious MB, et al. Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study. Lancet Neurol 2023;22(11):1015-1025.
Fereshtehnejad SM, Zeighami Y, Dagher A, Postuma RB. Clinical criteria for subtyping Parkinson's disease: biomarkers and longitudinal progression. Brain 2017;140(7):1959-1976.
Honeycutt L, Montplaisir JY, Gagnon JF, et al. Glucocerebrosidase mutations and phenoconversion of REM sleep behavior disorder to parkinsonism and dementia. Parkinsonism Relat Disord 2019;65:230-233.
Romenets SR, Gagnon JF, Latreille V, et al. Rapid eye movement sleep behavior disorder and subtypes of Parkinson's disease. Mov Disord 2012;27(8):996-1003.
Simuni T, Caspell-Garcia C, Coffey C, et al. How stable are Parkinson's disease subtypes in de novo patients: Analysis of the PPMI cohort? Parkinsonism Relat Disord. 2016;28:62-67.
De Pablo-Fernandez E, Lees AJ, Holton JL, Warner TT. Prognosis and Neuropathologic correlation of clinical subtypes of Parkinson disease. JAMA Neurol 2019;76(4):470-479.
Pagano G, Taylor KI, Anzures-Cabrera J, et al. Trial of Prasinezumab in early-stage Parkinson's disease. N Engl J Med 2022;387(5):421-432.
Cavallieri F, Fraix V, Bove F, et al. Predictors of long-term outcome of subthalamic stimulation in Parkinson disease. Ann Neurol 2021;89(3):587-597.
Chan GH. The role of genetic data in selecting device-aided therapies in patients with advanced Parkinson's disease: a mini-review. Front Aging Neurosci 2022;14:895430.
Morgante F, Fasano A, Ginevrino M, et al. Impulsive-compulsive behaviors in parkin-associated Parkinson disease. Neurology 2016;87(14):1436-1441.
Cerri S, Mus L, Blandini F. Parkinson's disease in women and men: What's the difference? J Parkinsons Dis 2019;9(3):501-515.
Bodi N, Keri S, Nagy H, et al. Reward-learning and the novelty-seeking personality: a between- and within-subjects study of the effects of dopamine agonists on young Parkinson's patients. Brain 2009;132(Pt 9):2385-2395.
Cheshire P, Bertram K, Ling H, et al. Influence of single nucleotide polymorphisms in COMT, MAO-A and BDNF genes on dyskinesias and levodopa use in Parkinson's disease. Neurodegener Dis 2014;13(1):24-28.
de Lau LM, Verbaan D, Marinus J, Heutink P, van Hilten JJ. Catechol-O-methyltransferase Val158Met and the risk of dyskinesias in Parkinson's disease. Mov Disord 2012;27(1):132-135.
Corvol JC, Bonnet C, Charbonnier-Beaupel F, et al. The COMT Val158Met polymorphism affects the response to entacapone in Parkinson's disease: a randomized crossover clinical trial. Ann Neurol 2011;69(1):111-118.
Weintraub D, Posavi M, Fontanillas P, et al. Genetic prediction of impulse control disorders in Parkinson's disease. Ann Clin Transl Neurol 2022;9(7):936-949.
Tessitore A, De Micco R, Giordano A, et al. Intrinsic brain connectivity predicts impulse control disorders in patients with Parkinson's disease. Mov Disord 2017;32(12):1710-1719.
Malhotra GK, Zhao X, Band H, Band V. Histological, molecular and functional subtypes of breast cancers. Cancer Biol Ther 2010;10(10):955-960.
Malik R, Chauhan G, Traylor M, et al. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. Nat Genet 2018;50(4):524-537.
Liu H, Dehestani M, Blauwendraat C, et al. Polygenic resilience modulates the penetrance of Parkinson disease genetic risk factors. Ann Neurol 2022;92(2):270-278.
Global Parkinson's Genetics P. GP2: the global Parkinson's genetics program. Mov Disord 2021;36(4):842-851.
Espay AJ, Kalia LV, Gan-Or Z, et al. Disease modification and biomarker development in Parkinson disease: revision or reconstruction? Neurology 2020;94(11):481-494.
Duque KR, Vizcarra JA, Hill EJ, Espay AJ. Disease-modifying vs symptomatic treatments: splitting over lumping. Handb Clin Neurol 2023;193:187-209.
Espay AJ, Schwarzschild MA, Tanner CM, et al. Biomarker-driven phenotyping in Parkinson's disease: a translational missing link in disease-modifying clinical trials. Mov Disord 2017;32(3):319-324.
Sturchio A, Marsili L, Mahajan A, Grimberg MB, Kauffman MA, Espay AJ. How have advances in genetic technology modified movement disorder nosology? Eur J Neurol 2020;27(8):1461-1470.
Sturchio A, Marsili L, Vizcarra JA, et al. Phenotype-agnostic molecular subtyping of neurodegenerative disorders: the Cincinnati cohort biomarker program (CCBP). Front Aging Neurosci 2020;12:553635.
Chahine LM, Merchant K, Siderowf A, et al. Proposal for a biologic staging system of Parkinson's disease. J Parkinsons Dis 2023;13(3):297-309.
Rothwell PM, Giles MF, Flossmann E, et al. A simple score (ABCD) to identify individuals at high early risk of stroke after transient ischaemic attack. Lancet 2005;366(9479):29-36.
Saria S, Goldenberg A. Subtyping: what it is and its role in precision medicine. IEEE Intelligent Syst 2015;30(4):70-75.
Potashkin J, Huang X, Becker C, Chen H, Foltynie T, Marras C. Understanding the links between cardiovascular disease and Parkinson's disease. Mov Disord 2020;35(1):55-74.
Cheong JLY, de Pablo-Fernandez E, Foltynie T, Noyce AJ. The association between type 2 diabetes mellitus and Parkinson's disease. J Parkinsons Dis 2020;10(3):775-789.
Chohan H, Senkevich K, Patel RK, et al. Type 2 diabetes as a determinant of Parkinson's disease risk and progression. Mov Disord 2021;36(6):1420-1429.
Leentjens AFG, Smith SL. Will the biopsychosocial model of medicine survive in the age of artificial intelligence and machine learning? J Psychosom Res 2023;168:111207.
Zhang X, Chou J, Liang J, et al. Data-driven subtyping of Parkinson's disease using longitudinal clinical records: a cohort study. Sci Rep 2019;9(1):797.
Corvol JC, Durrleman S, Lehericy S, et al. PRECISE-PD: from pathophysiology to precision medicine for Parkinson's disease. Mov Disord 2019;34(suppl 2).
Enroll-HD. CHDI Foundation, Inc.
Vollstedt EJ, Schaake S, Lohmann K, et al. Embracing monogenic Parkinson's disease: the MJFF global genetic PD cohort. Mov Disord 2023;38(2):286-303.
Stephenson D, Hu MT, Romero K, et al. Precompetitive data sharing as a catalyst to address unmet needs in Parkinson's disease. J Parkinsons Dis 2015;5(3):581-594.
Gray R, Patel S, Ives N, et al. Long-term effectiveness of adjuvant treatment with catechol-O-Methyltransferase or monoamine oxidase B inhibitors compared with dopamine agonists among patients with Parkinson disease uncontrolled by levodopa therapy: the PD MED randomized clinical trial. JAMA Neurol 2022;79(2):131-140.
Lawton M, Tan MM, Ben-Shlomo Y, et al. Genetics of validated Parkinson's disease subtypes in the Oxford discovery and tracking Parkinson's cohorts. J Neurol Neurosurg Psychiatry 2022;93(9):952-959.
Lawton M, Baig F, Toulson G, et al. Blood biomarkers with Parkinson's disease clusters and prognosis: the oxford discovery cohort. Mov Disord 2020;35(2):279-287.
Lawton M, Ben-Shlomo Y, May MT, et al. Developing and validating Parkinson's disease subtypes and their motor and cognitive progression. J Neurol Neurosurg Psychiatry 2018;89(12):1279-1287.
Health NIo. National Institutes of Health: All of Us Research Program.