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Providing genetic testing and genetic counseling for Parkinson's disease to the community

Cook, Lola; Verbrugge, Jennifer; Schwantes-An, Tae Hwi; Schulze, Jeanine; Beck, James C.; Naito, Anna; Hall, Anne; Chan, Amanda K.; Casaceli, Cynthia J.; Marder, Karen; Nance, Martha; Schwarzschild, Michael A.; Simuni, Tanya; Wills, Anne Marie; Alcalay, Roy N.
Purpose: To evaluate the feasibility and impact of offering genetic testing and counseling to patients with Parkinson's disease (PD), with the potential to enroll in gene-targeted clinical trials and improve clinical care. Methods: A multicenter, exploratory pilot study at 7 academic hospital sites in the United States tracked enrollment and randomized participants to receive results and genetic counseling at local sites or by genetic counselors, remotely. Follow-up surveys measured participant/provider satisfaction, knowledge, and psychological impact. Results: From September 5, 2019 to January 4, 2021, 620 participants were enrolled and 387 completed outcome surveys. There were no significant differences in outcomes between local and remote sites, with both arms reporting high knowledge and satisfaction scores (>80%). Notably, 16% of those tested had reportable PD gene variants (pathogenic/likely pathogenic/risk allele). Conclusion: Local clinicians, as well as genetic counselors, with educational support as needed, can effectively return genetic results for PD as we observed favorable outcome measures in both groups. Increasing access to PD genetic testing and counseling is urgent; this can inform future efforts to integrate genetic testing and counseling into clinical care for all those with PD.
ISSN: 1098-3600
CID: 5548222

IN-HOME-PDCaregivers: The effects of a combined home visit and peer mentoring intervention for caregivers of homebound individuals with advanced Parkinson's disease

Fleisher, Jori E; Suresh, Madhuvanthi; Klostermann, Ellen C; Lee, Jeanette; Hess, Serena P; Myrick, Erica; Mitchem, Daniela; Woo, Katheryn; Sennott, Brianna J; Witek, Natalie P; Chen, Sarah Mitchell; Beck, James C; Ouyang, Bichun; Wilkinson, Jayne R; Hall, Deborah A; Chodosh, Joshua
INTRODUCTION/BACKGROUND:Family caregivers of people with advanced Parkinson's Disease (PD) are at high risk of caregiver strain, which independently predicts adverse patient outcomes. We tested the effects of one year of interdisciplinary, telehealth-enhanced home visits (IN-HOME-PD) with 16 weeks of peer mentoring on caregiver strain compared with usual care. METHODS:We enrolled homebound people with advanced PD (PWPD) and their primary caregiver as IN-HOME-PD dyads. We trained experienced PD family caregivers as peer mentors. Dyads received four structured home visits focused on advanced symptom management, home safety, medications, and psychosocial needs. Starting at approximately four months, caregivers spoke weekly with a peer mentor for 16 weeks. We compared one-year change in caregiver strain (MCSI, range 0-72) with historical controls, analyzed intervention acceptability, and measured change in anxiety, depression, and self-efficacy. RESULTS:Longitudinally, IN-HOME-PD caregiver strain was unchanged (n = 51, 23.34 (SD 9.43) vs. 24.32 (9.72), p = 0.51) while that of controls worsened slightly (n = 154, 16.45 (10.33) vs. 17.97 (10.88), p = 0.01). Retention in peer mentoring was 88.2%. Both mentors and mentees rated 100% of mentoring calls useful, with mean satisfaction of 91/100 and 90/100, respectively. There were no clinically significant improvements in anxiety, depression, or self-efficacy. CONCLUSIONS:Interdisciplinary telehealth-enhanced home visits combined with peer mentoring mitigated the worsening strain observed in caregivers of less advanced individuals. Mentoring was met with high satisfaction. Future caregiver-led peer mentoring interventions are warranted given the growing, unmet needs of PD family caregivers. TRIAL REGISTRATION/BACKGROUND:NCT03189459.
PMID: 36446676
ISSN: 1873-5126
CID: 5383572

IN-HOME-PD: The effects of longitudinal telehealth-enhanced interdisciplinary home visits on care and quality of life for homebound individuals with Parkinson's disease

Fleisher, Jori E; Hess, Serena P; Klostermann, Ellen C; Lee, Jeanette; Myrick, Erica; Mitchem, Daniela; Niemet, Claire; Woo, Katheryn; Sennott, Brianna J; Sanghvi, Maya; Witek, Natalie; Beck, James C; Wilkinson, Jayne R; Ouyang, Bichun; Hall, Deborah A; Chodosh, Joshua
INTRODUCTION/BACKGROUND:Homebound individuals with advanced Parkinson's disease (PD) are underrepresented in research and care. We tested the impact of interdisciplinary, telehealth-enhanced home visits (IN-HOME-PD) on patient quality of life (QoL) compared with usual care. METHODS:Nonrandomized controlled trial of quarterly, structured, telehealth-enhanced interdisciplinary home visits focused on symptom management, home safety, medication reconciliation, and psychosocial needs ( NCT03189459). We enrolled homebound participants with advanced PD (Hoehn & Yahr (HY) stage ≥3). Usual care participants had ≥2 visits in the Parkinson's Outcomes Project (POP) registry. We compared within- and between-group one-year change in QoL using the Parkinson's Disease Questionnaire. RESULTS:Sixty-five individuals enrolled in IN-HOME-PD (32.3% women; mean age 78.9 (SD 7.6) years; 74.6% white; 78.5% HY ≥ 4) compared with 319 POP controls, with differences in age, race, and PD severity (37.9% women; mean age 70.1 (7.8) years; 96.2% white; 15.1% HY ≥ 4). Longitudinally, the intervention group's QoL remained unchanged (within-group p = 0.74, Cohen's d = 0.05) while QoL decreased over time in POP controls (p < 0.001, Cohen's d = 0.27). The difference favored the intervention (between-group p = 0.04). POP participants declined in 7/8 dimensions while IN-HOME-PD participants' bodily discomfort improved and hospice use and death at home-markers of goal-concordant care-far exceeded national data. CONCLUSIONS:Telehealth-enhanced home visits can stabilize and may improve the predicted QoL decline in advanced PD via continuity of care and facilitating goal-concordant care, particularly among diverse populations. Extrapolating features of this model may improve continuity of care and outcomes in advanced PD.
PMID: 35963046
ISSN: 1873-5126
CID: 5287442

COVID-19 manifestations in people with Parkinson's disease: a USA cohort

Xu, Yaqian; Surface, Matthew; Chan, Amanda K; Halpern, Joshua; Vanegas-Arroyave, Nora; Ford, Blair; Feeney, Megan P; Kwei, Kimberly T; Katus, Linn E; Kuo, Sheng-Han; Shah, Hiral; Waters, Cheryl; Winfield, Linda M; Beck, James C; Przedborski, Serge; Fahn, Stanley; Alcalay, Roy N
BACKGROUND:With the explosion of COVID-19 globally, it was unclear if people with Parkinson's disease (PD) were at increased risk for severe manifestations or negative outcomes. OBJECTIVES/OBJECTIVE:To report on people with PD who had suspected or confirmed COVID-19 to understand how COVID-19 manifested in PD patients. METHODS:We surveyed PD patients who reported COVID-19 to their Movement Disorders specialists at Columbia University Irving Medical Center and respondents from an online survey administered by the Parkinson's Foundation that assessed COVID-19 symptoms, general clinical outcomes and changes in motor and non-motor PD symptoms. RESULTS:Forty-six participants with PD and COVID-19 were enrolled. Similar to the general population, the manifestations of COVID-19 among people with PD were heterogeneous ranging from asymptomatic carriers (1/46) to death (6/46). The most commonly reported COVID-19 symptoms were fever/chills, fatigue, cough, weight loss, and muscle pain. Worsening and new onset of motor and non-motor PD symptoms during COVID-19 illness were also reported, including dyskinesia, rigidity, balance disturbances, anxiety, depression, and insomnia. CONCLUSION/CONCLUSIONS:We did not find sufficient evidence that PD is an independent risk factor for severe COVID-19 and death. Larger studies with controls are required to understand this further. Longitudinal follow-up of these participants will allow for observation of possible long-term effects of COVID-19 in PD patients.
PMID: 34482434
ISSN: 1432-1459
CID: 5067072

The commercial genetic testing landscape for Parkinson's disease

Cook, Lola; Schulze, Jeanine; Verbrugge, Jennifer; Beck, James C; Marder, Karen S; Saunders-Pullman, Rachel; Klein, Christine; Naito, Anna; Alcalay, Roy N
INTRODUCTION/BACKGROUND:There have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of our gene curation. METHODS:The National Institutes of Health (NIH) Genetic Testing Registry (GTR) was queried on 12/7/2020 to identify current commercial PD genetic test offerings by clinical laboratories, internationally. RESULTS:We identified 502 unique clinical genetic tests for PD, from 28 Clinical Laboratory Improvement Amendments (CLIA)-approved clinical laboratories. These included 11 diagnostic PD panels. The panels were notable for their differences in size, ranging from 5 to 62 genes. Five genes for variant query were included in all panels (SNCA, PRKN, PINK-1, PARK7 (DJ1), and LRRK2). Notably, the addition of the VPS35 and GBA genes was variable. Panel size differences stemmed from inclusion of genes linked to atypical parkinsonism and dystonia disorders, and genes in which the link to PD causation is controversial. CONCLUSION/CONCLUSIONS:There is an urgent need for expert opinion regarding which genes should be included in a commercial laboratory multi-gene panel for PD.
PMID: 34696975
ISSN: 1873-5126
CID: 5042312

Longitudinal, Interdisciplinary Home Visits vs. Usual Care for Homebound People with Advanced Parkinson's Disease (IN-HOME-PD): Study protocol for a controlled trial

Fleisher, Jori; Hess, Serena; Sennott, Brianna; Myrick, Erica; Wallace, Ellen Klostermann; Lee, Jeanette; Sanghvi, Maya; Woo, Katheryn; Ouyang, Bichun; Wilkinson, Jayne; Beck, James; Johnson, Tricia; Hall, Deborah; Chodosh, Joshua
BACKGROUND:Current understanding of advanced Parkinson's disease (PD) and its treatment is largely based on data from outpatient visits. The most advanced and disabled individuals become disconnected from both care and research. A previous pilot study among older, multimorbid patients with advanced PD demonstrated the feasibility of interdisciplinary home visits to reach the target population, improve care quality, and potentially avoid institutionalization. OBJECTIVE:The following protocol tests whether interdisciplinary home visits can 1) prevent decline in quality of life and 2) prevent worsening caregiver strain. Finally, the protocol explores whether program costs are offset by savings in healthcare use and institutionalization when compared with usual care. METHODS:In this single-center, controlled trial, 65 patient-caregiver dyads affected by advanced PD (Hoehn & Yahr stages 3-5 and homebound) are recruited to receive quarterly interdisciplinary home visits over one year. The one-year intervention is delivered by a nurse and research coordinator who travel to the home supported by a movement disorders specialist and social worker (both present by video). Each dyad is compared with age-, sex-, and Hoehn and Yahr stage-matched control dyads drawn from US participants in the longitudinal Parkinson's Outcome Project registry. The primary outcome measure is change in patient quality of life between baseline and one year. Secondary outcome measures include change in Hoehn & Yahr stage, caregiver strain, self-reported fall frequency, emergency room visits, hospital admissions, and time-to-institutionalization and/or death. Intervention costs and changes in healthcare utilization will be analyzed in a budget impact analysis exploring the potential for model adaptation and dissemination. RESULTS:The protocol was funded in September 2017 and approved by the Rush Institutional Review Board in October 2017. Recruitment began in May 2018 and closed in November 2019 with 65 patient-caregiver dyads enrolled. All study visits have been completed and analysis is underway. CONCLUSIONS:To our knowledge, this is the first controlled trial to investigate the effects of interdisciplinary home visits among homebound individuals with advanced Parkinson's disease and their caregivers. This study also establishes a unique cohort of patients from whom we can study the natural course of advanced PD, its treatments, and unmet needs. CLINICALTRIAL/, NCT03189459.
PMID: 34238753
ISSN: 1929-0748
CID: 4933512

Expediting telehealth use in clinical research studies: recommendations for overcoming barriers in North America

Naito, Anna; Wills, Anne-Marie; Tropea, Thomas F; Ramirez-Zamora, Adolfo; Hauser, Robert A; Martino, Davide; Turner, Travis H; Rafferty, Miriam R; Afshari, Mitra; Williams, Karen L; Vaou, Okeanis; McKeown, Martin J; Ginsburg, Letty; Ezra, Adi; Iansek, Robert; Wallock, Kristin; Evers, Christiana; Schroeder, Karlin; DeLeon, Rebeca; Yarab, Nicole; Alcalay, Roy N; Beck, James C
PMID: 33846349
ISSN: 2373-8057
CID: 4841022

Weeding through the haze: a survey on cannabis use among people living with Parkinson's disease in the US

Feeney, Megan P; Bega, Danny; Kluger, Benzi M; Stoessl, A Jon; Evers, Christiana M; De Leon, Rebeca; Beck, James C
Symptomatic management of Parkinson's disease (PD) is complex and many symptoms, especially non-motor symptoms, are not effectively addressed with current medications. In the US, cannabis has become more widely available for medical and recreational use, permitting those in the PD community to try alternative means of symptom control. However, little is known about the attitudes towards, and experiences with, cannabis use among those living with PD. To address this shortcoming, we distributed an anonymous survey to 7,607 people with PD in January 2020 and received 1339 responses (17.6%). 1064 complete responses were available for analysis. Respondents represented 49 states with a mean age of 71.2 years (±8.3) and mean PD duration of 7.4 years (±6.2). About a quarter of respondents (24.5%) reported cannabis use within the previous six months. Age and gender were found to be predictors of cannabis use in this sample (Age OR = 0.95, 95% CI 0.93 to 0.97; Male OR = 1.44, 95% CI 1.03 to 2.03). Users reported learning about cannabis use from the internet/news (30.5%) and friends or other people with PD (26.0%). Cannabis users were more likely to report insufficient control of their non-motor symptoms with prescription medications than non-users (p = 0.03). Cannabis was primarily used for PD (63.6%) and was most often used to treat nonmotor symptoms of anxiety (45.5%), pain (44.0%), and sleep disorders (44.0%). However, nearly a quarter of users (23.0%) also reported they had stopped cannabis use in the previous six months, primarily due to a lack of symptom improvement (35.5%). Three quarters of respondents (75.5%) did not use cannabis, primarily because there was a lack of scientific evidence supporting efficacy (59.9%). Our results suggest that the lack of formal guidance or research evidence about cannabis for PD may in part underlie inconsistencies in both use and reported effectiveness.
PMID: 33658517
ISSN: 2373-8057
CID: 4808132

The TOPAZ study: a home-based trial of zoledronic acid to prevent fractures in neurodegenerative parkinsonism

Tanner, Caroline M; Cummings, Steven R; Schwarzschild, Michael A; Brown, Ethan G; Dorsey, E Ray; Espay, Alberto J; Galifianakis, Nicholas B; Goldman, Samuel M; Litvan, Irene; Luthra, Nijee; McFarland, Nikolaus R; Mitchell, Kyle T; Standaert, David G; Bauer, Douglas C; Greenspan, Susan L; Beck, James C; Lyles, Kenneth W
The Trial of Parkinson's And Zoledronic acid (TOPAZ, ) is a unique collaboration between experts in movement disorders and osteoporosis to test the efficacy of zoledronic acid, an FDA-approved parenteral treatment for osteoporosis, for fracture prevention in people with neurodegenerative parkinsonism. Aiming to enroll 3,500 participants age 65 years or older, TOPAZ is one of the largest randomized, placebo-controlled clinical trials ever attempted in parkinsonism. The feasibility of TOPAZ is enhanced by its design as a U.S.- wide home-based trial without geographical limits. Participants receive information from multiple sources, including specialty practices, support groups and websites. Conducting TOPAZ in participants' homes takes advantage of online consent technology, the capacity to confirm diagnosis using telemedicine and the availability of research nursing to provide screening and parenteral therapy in homes. Home-based clinical research may provide an efficient, convenient, less expensive method that opens participation in clinical trials to almost anyone with parkinsonism.
PMID: 33649343
ISSN: 2373-8057
CID: 4808112

Design of a virtual longitudinal observational study in Parkinson's disease (AT-HOME PD)

Schneider, Ruth B; Omberg, Larsson; Macklin, Eric A; Daeschler, Margaret; Bataille, Lauren; Anthwal, Shalini; Myers, Taylor L; Baloga, Elizabeth; Duquette, Sidney; Snyder, Phil; Amodeo, Katherine; Tarolli, Christopher G; Adams, Jamie L; Callahan, Katherine F; Gottesman, Joshua; Kopil, Catherine M; Lungu, Codrin; Ascherio, Alberto; Beck, James C; Biglan, Kevin; Espay, Alberto J; Tanner, Caroline; Oakes, David; Shoulson, Ira; Novak, Dan; Kayson, Elise; Ray Dorsey, Earl; Mangravite, Lara; Schwarzschild, Michael A; Simuni, Tanya
OBJECTIVE:The expanding power and accessibility of personal technology provide an opportunity to reduce burdens and costs of traditional clinical site-centric therapeutic trials in Parkinson's disease and generate novel insights. The value of this approach has never been more evident than during the current COVID-19 pandemic. We sought to (1) establish and implement the infrastructure for longitudinal, virtual follow-up of clinical trial participants, (2) compare changes in smartphone-based assessments, online patient-reported outcomes, and remote expert assessments, and (3) explore novel digital markers of Parkinson's disease disability and progression. METHODS:Participants from two recently completed phase III clinical trials of inosine and isradipine enrolled in Assessing Tele-Health Outcomes in Multiyear Extensions of Parkinson's Disease trials (AT-HOME PD), a two-year virtual cohort study. After providing electronic informed consent, individuals complete annual video visits with a movement disorder specialist, smartphone-based assessments of motor function and socialization, and patient-reported outcomes online. RESULTS:From the two clinical trials, 226 individuals from 42 states in the United States and Canada enrolled. Of these, 181 (80%) have successfully downloaded the study's smartphone application and 161 (71%) have completed patient-reported outcomes on the online platform. INTERPRETATION:It is feasible to conduct a large-scale, international virtual observational study following the completion of participation in brick-and-mortar clinical trials in Parkinson's disease. This study, which brings research to participants, will compare established clinical endpoints with novel digital biomarkers and thereby inform the longitudinal follow-up of clinical trial participants and design of future clinical trials.
PMID: 33350601
ISSN: 2328-9503
CID: 4881942