Evidence map›Paper›PMID 32568109›Full record

ArticleJournal of Parkinson's disease2020

A Virtual Cohort Study of Individuals at Genetic Risk for Parkinson's Disease: Study Protocol and Design.

Ruth B Schneider, Taylor L Myers, Helen M Rowbotham, Marie K Luff, Katherine Amodeo, Saloni Sharma, Renee Wilson, Stella Jensen-Roberts, Peggy Auinger, Michael P McDermott and 10 more

Abstract readClinical Trial Protocol
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of Parkinson's disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Narrative review of telemedicine applications in decentralized research.Journal of clinical and translational science · 2024
    Review
  7. Review
  8. Article
  9. Review
  10. Review
  11. Article
  12. Observational
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors.

Ruth B SchneiderDepartment of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
Taylor L MyersCenter for Health + Technology, University of Rochester Medical Center, Rochester, NY, USA.
Helen M Rowbotham23andMe, Inc., Sunnyvale, CA, USA.
Marie K Luff23andMe, Inc., Sunnyvale, CA, USA.
Katherine AmodeoDepartment of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
Saloni SharmaCenter for Health + Technology, University of Rochester Medical Center, Rochester, NY, USA.
Renee WilsonCenter for Health + Technology, University of Rochester Medical Center, Rochester, NY, USA.
Stella Jensen-RobertsCenter for Health + Technology, University of Rochester Medical Center, Rochester, NY, USA.
Peggy AuingerCenter for Health + Technology, University of Rochester Medical Center, Rochester, NY, USA.
Michael P McDermottDepartment of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
Roy N AlcalayDepartment of Neurology, Columbia University, New York, NY, USA.
Kevin BiglanDepartment of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
Daniel KinelDepartment of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
Caroline TannerWeill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
Reni Winter-EvansValley Oaks Health, Lafayette, IN, USA.
Erika F AugustineDepartment of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
Paul Cannon23andMe, Inc., Sunnyvale, CA, USA.
23andMe Research Team
Robert G HollowayDepartment of Neurology, University of Rochester Medical Center, Rochester, NY, USA.
E Ray DorseyDepartment of Neurology, University of Rochester Medical Center, Rochester, NY, USA.

Funding

The Clinical Core will support in-person and virtual research visits for three of the four Research Projects at the University of Rochester Udall CenterP50NS108676 · NINDS · UNIVERSITY OF ROCHESTER · PI DORSEY, EARL RAY · 2018 to 2022
$9.2M
NINDS NIH HHS P50 NS108676
6 · The paper itself

Abstract

backgroundThe 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.

objectiveTo 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.

methodsThis 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.

results263 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.

conclusionsThis 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.

Indexed as

Genetic Predisposition to DiseaseParkinson DiseaseResearch DesignTelemedicineAgedCohort StudiesFeasibility StudiesFemaleGenetic TestingHeterozygoteHumansJewsLeucine-Rich Repeat Serine-Threonine Protein Kinase-2Longitudinal StudiesMaleMiddle AgedLeucine-Rich Repeat Serine-Threonine Protein Kinase-2Clinical trials as topiccohort studiesgenetic testingLRRK2Parkinson’s diseaserare diseaseremote consultationtelemedicine

Identifiers

PMID32568109
PMCPMC7505001

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.