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

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  • معلومة اضافية
    • Corporate Authors:
      23andMe Research Team
    • المصدر:
      Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101567362 Publication Model: Print Cited Medium: Internet ISSN: 1877-718X (Electronic) Linking ISSN: 18777171 NLM ISO Abbreviation: J Parkinsons Dis Subsets: MEDLINE
    • بيانات النشر:
      Original Publication: Amsterdam : IOS Press
    • الموضوع:
      Clinical Protocols* ; Clinical Trials as Topic* ; Genetic Predisposition to Disease* ; Research Design* ; Telemedicine*; Parkinson Disease/*diagnosis ; Parkinson Disease/*genetics; Aged ; Cohort Studies ; Feasibility Studies ; Female ; Genetic Testing ; Heterozygote ; Humans ; Jews/genetics ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/genetics ; Longitudinal Studies ; Male ; Middle Aged ; Parkinson Disease/therapy ; Rare Diseases
    • نبذة مختصرة :
      Background: 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.
      Objective: 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.
      Methods: 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.
      Results: 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.
      Conclusions: 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.
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    • Grant Information:
      P50 NS108676 United States NS NINDS NIH HHS
    • Contributed Indexing:
      Keywords: Clinical trials as topic; LRRK2; Parkinson’s disease; cohort studies; genetic testing; rare disease; remote consultation; telemedicine
    • الرقم المعرف:
      EC 2.7.11.1 (Leucine-Rich Repeat Serine-Threonine Protein Kinase-2)
    • الموضوع:
      Date Created: 20200623 Date Completed: 20210915 Latest Revision: 20210915
    • الموضوع:
      20231215
    • الرقم المعرف:
      PMC7505001
    • الرقم المعرف:
      10.3233/JPD-202019
    • الرقم المعرف:
      32568109