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临床试验/NCT02668835
NCT02668835已完成不适用

GADGET-PD Genetic and Digital Diagnosis of Essential Tremor and Parkinson's Disease Trial

Scripps Translational Science Institute0 个研究点目标入组 67 人开始时间: 2015年11月最近更新:
适应症

试验速览

阶段
不适用
状态
已完成
发起方
入组人数
67
主要终点
Comparison of genetic markers between cohorts (Parkinson's disease and Essential Tremor)

研究概览

简要总结

The proposed study will capitalize on the early predictive information stored in an individual's genetic risk for Parkinson Disease (PD) in combination with the subtle features of tremors that can be extracted from movement data gathered by modern compact accelerometers in order to determine if accurate discrimination of essential tremor (ET) from PD can be achieved. Both of these technologies have a proven but somewhat limited ability to inform diagnosis of PD or differentiation of PD from ET - especially at early stages of the disease. The investigators hypothesize that a combination of prior genetic risk and current disease symptomology can synergize for accurate and early discrimination of PD from ET and ultimately inform a cost effective approach to movement disorder diagnosis.

In this study, the investigators will collect blood from individuals with confirmed late-onset diagnosis of PD and ET. Gold standard diagnosis status will be determined via the Unified Parkinson's Disease Rating Scale (UPDRS) - the accepted clinical gold standard for Parkinson's Disease diagnosis. DNA will be extracted from blood samples to characterize the genetic risk of individuals for PD via proven genetic risk models. In addition, participants will wear a wristwatch-like accelerometer device that will track their movements (tremors) at high temporal resolution and transmit movement data via a smartphone. Cognitive distraction tasks will be administered via mobile phones while simultaneously collecting movement data. Predictive tremor features will be extracted from movement data via signal processing approaches - e.g. discrete wavelet transformation. A final predictive model combining movement tracking information and genetic information will be designed in attempt to distinguish PD from ET individuals.

研究设计

研究类型
Observational
观察模型
Cohort
时间视角
Retrospective

入排标准

年龄范围
18 Years 至 —(Adult, Older Adult)
性别
All
接受健康志愿者

入选标准

  • Idiopathic Parkinson's Disease as defined by the UK brain bank criteria and history of resting tremor, or:
  • Essential Tremor with history of resting tremor. Diagnosis made by a movement disorder specialist.
  • Midstage in disease process for Parkinson's disease with history of resting tremor

排除标准

  • Dementia as defined by a mini-mental state examination cutoff score of 27
  • Atypical Parkinsonism
  • Akinesia/ rigidity Parkinson's Disease
  • Movement Disorders - Stiff-Person syndrome, choreatic disease, dystonia, progressive supranuclear palsy
  • Motor neuron disease - Multiple sclerosis, amyotrophic lateral sclerosis, motor neuritis, progressive bulbar palsy, progressive muscular atrophy, spinal muscular atrophy
  • Significant neurological comorbidities:
  • Brain cancer or brain metastases
  • History of bone marrow transplant
  • Cerebral palsy and spastic paraplegia

结局指标

主要结局

Comparison of genetic markers between cohorts (Parkinson's disease and Essential Tremor)

时间窗: 2 years

The primary outcome of the study is the generation of genomic information that may inform the diagnosis and/or treatment of movement disorders. The endpoint will be derived from the successful implementation of genomic assays, appropriate bioinformatic and statistical analysis of the genomic data generated by those assays. These analyses and report generation activity may be based on comparison of the genomic profile of a patient with data obtained from other such studies or publicly available data in addition to comparison between datasets generated within this study.

Tremor frequency over two week period

时间窗: 2 weeks

A primary outcome of the study is the tremor frequency over two week period that may inform the diagnosis and/or treatment of movement disorders. The endpoint will be derived data recorded from a digital wristwatch-like device. These analyses and report generation activity may be based on comparison between datasets generated within this study.

次要结局

  • Comparison of genetic markers to tremor characteristics(2 years)

研究者

发起方
Scripps Translational Science Institute
申办方类型
Other
责任方
Sponsor

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