To characterize the population with parkinsonism and exposure to antipsychotics who underwent dopamine transporter single-photon emission computed tomography (DATSPECT).
To describe the baseline characteristics of a national virtual cohort of LRRK2 G2019S carriers with and without self-reported Parkinson's disease (PD) recruited from a personal genomics company.
Electronic Health Record (EHR) systems are often configured to address challenges and improve patient safety for persons with Parkinson’s disease (PWP). For example, EHR systems can help identify Parkinson’s disease (PD) patients across the hospital by flagging a patient’s diagnosis in their chart, preventing errors in medication and dosing through the use of clinical decision support, and supplementing staff education through care plans that provide step-by-step road maps for disease-based care of a specific patient population. However, most EHR-based solutions are locally developed and, thus, difficult to scale widely or apply uniformly across hospital systems. In 2020, the Parkinson’s Foundation, a national and international leader in PD research, education, and advocacy, and Epic, a leading EHR vendor with more than 35% market share in the United States, launched a partnership to reduce risks to hospitalized PWP using standardized EHR-based solutions. This article discusses that project which included leadership from physician informaticists, movement disorders specialists, hospital quality officers, the Parkinson’s Foundation and members of the Parkinson’s community. We describe the best practice solutions developed through this project. We highlight those that are currently available as standard defaults or options within the Epic EHR, discuss the successes and limitations of these solutions, and consider opportunities for scalability in environments beyond a single EHR vendor. The Parkinson’s Foundation and Epic launched a partnership to develop best practice solutions in the Epic EHR system to improve safety for PWP in the hospital. The goal of the partnership was to create the EHR tools that will have the greatest impact on outcomes for hospitalized PWP.
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.
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.
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.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.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.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.
The Lewy Body Dementias (LBD), which include dementia with Lewy bodies (DLB) and Parkinson's disease with dementia (PDD), represent the second most common dementia syndrome after Alzheimer's disease dementia. There are several challenges associated with LBD, which include the lack of approved medications for most clinical features, lack of evidence on management principles, and absence of infrastructure for LBD clinical trials. The Lewy Body Dementia Association (LBDA) oversaw the development of the Research Centers of Excellence (RCOE) program with the primary goals of 1) improving LBD clinical care and 2) developing a clinical trials-ready network and the associated infrastructure. A nation-wide request for applications and review process was performed in 2017, and the inaugural investigator meeting was held in December 2017. Twenty-four centers were selected, and over 40 individuals participated in the investigator meeting. A survey revealed that over 1700 new and over 4800 established LBD patients are evaluated each year across the RCOE centers. The following items were identified as key objectives relating to improving clinical care: 1) identify the optimal tools for clinical diagnosis, 2) define the standards of care for management throughout the course of the disorder, 3) promote continuing medical education to health care providers, and 4) operate and maintain LBD-specific resources, support groups and programs. The key objectives relating to developing clinical trial network infrastructure include: 1) review the landscape of clinical measures and biomarkers pertinent to LBD trial methodology, 2) determine the optimal core and supplemental battery of measures for clinical trials, and develop new measures when needed, 3) expand relationships with industry partners, and 4) determine core principles for LBD trials. Several working groups and committees were established to address these objectives. These objectives address many of the priorities for LBD which were developed at the NAPA Alzheimer's Disease and Related Dementias Summit in 2016 (Corriveau et al, Neurology 2017;89:2381-2391) – particularly the highest priority goal of initiating more clinical trials in LBD. The LBDA RCOE investigators will update the scientific community as these objectives are addressed. Supported by the LBDA.
Sunday, April 26April 14, 2020Free AccessRecruitment of a Virtual Nationwide Cohort of LRRK2 G2019S Carriers (4746)Taylor Myers, Ruth Schneider, Stella Jensen-Roberts, Helen Rowbotham, Marie Luff, Eli Chanoff, Katherine Amodeo, Saloni Sharma, Roy Alcalay, Paul Cannon, E. Ray Dorsey, and Robert HollowayAuthors Info & AffiliationsApril 14, 2020 issue94 (15_supplement)https://doi.org/10.1212/WNL.94.15_supplement.4746 Letters to the Editor
Abstract Background The Michael J. Fox Foundation for Parkinson’s Research (MJFF) regularly gathers feedback from patients and families about their experiences with Parkinson’s disease (PD). We often hear that cognitive changes are among the most feared and troublesome symptoms. Participants in Fox Insight, MJFF’s online observational study, reported cognition as their third most bothersome symptom 1 and in an informal survey of 797 webinar attendees, more than 40 percent said cognitive changes always or often affect daily life, confirming known research. 2 Mild cognitive impairment affects 25 percent 3,4 and dementia impacts 40 percent 5 of people with Parkinson’s. Yet honest, relatable, actionable information on this topic is lacking. To fill this information gap, MJFF’s on‐staff movement disorder specialist facilitated question‐driven discussion with three groups: 1. Providers — four movement and cognitive specialists; 2. Patients — 23 people with PD; 3. Care partners — two social workers and seven care partners of people with Alzheimer’s disease or Lewy body dementia. Care partners also completed a 17‐item questionnaire. Sessions focused on understanding how participants think and talk about cognitive changes as well as what patients and care partners want to know about cognitive changes and how to manage them. Patients and families want early, honest information so they can be proactive and plan. Clinicians recognize the need to mitigate fear and denial and to address cognitive changes in compassionate, reassuring and useful ways. We used these insights to create accessible, practical resources including a 35‐page guide, a webinar and a video. These materials offer information on how thinking and memory can change in Parkinson’s, tips and treatments to promote brain health and ease cognitive symptoms, strategies for talking with loved ones and providers about cognitive changes, and connections with the latest research. Demonstrating the urgent need for this information, the guide and associated materials have been downloaded over 325,000 times in less than four months and over 3,400 people attended the webinar. MJFF’s resources convey a sensitive topic in a relatable and empathic manner to decrease fear and stigma, stimulate discussion, promote research participation, and help patients and families maintain quality of life with cognitive changes.
The rise of direct-to-consumer genetic testing has enabled many to learn of their possible increased risk for rare diseases, some of which may be suitable for gene-targeted therapies. However, recruiting a large and representative population for rare diseases or genetically defined sub-populations of common diseases is slow, difficult, and expensive.To assess the feasibility of recruiting and retaining a cohort of individuals who carry a genetic mutation linked to Parkinson's disease (G2019S variant of LRRK2); to characterize this cohort relative to the characteristics of traditional, in-person studies; and to evaluate this model's ability to create an engaged study cohort interested in future clinical trials of gene-directed therapies.This single-site,3-year national longitudinal observational study will recruit between 250 to 350 LRRK2 carriers without Parkinson's disease and approximately 50 with the condition. Participants must have undergone genetic testing by the personal genetics company, 23andMe, Inc., have knowledge of their carrier status, and consent to be contacted for research studies. All participants undergo standardized assessments, including video-based cognitive and motor examination, and complete patient-reported outcomes on an annual basis.263 individuals living in 33 states have enrolled. The cohort has a mean (SD) age of 56.0 (15.9) years, 59% are female, and 76% are of Ashkenazi Jewish descent. 233 have completed the baseline visit: 47 with self-reported Parkinson's disease and 186 without.This study establishes a promising model for developing a geographically dispersed and well-characterized cohort ready for participation in future clinical trials of gene-directed therapies.
