Analysis of Cutaneous Phosphorylated Alpha-Synuclein to Identify Patients at Risk of Progressing From Essential Tremor to Parkinson's Disease
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 300
- 试验地点
- 4
- 主要终点
- Quantity of P-SYN in skin
研究概览
简要总结
Background and Rationale Essential tremor (ET) affects over 6 million Americans and approximately 5% of adults over age 60. Patients with ET have a 10-20 times higher risk of developing Parkinson's disease (PD) compared to age-matched populations, with approximately 1% converting to PD annually. Post-mortem studies reveal Lewy body pathology in some ET patients, suggesting a subset may have prodromal PD. Current diagnostic tools (DaTscan, SYNTap) are either insufficiently sensitive for early disease, too expensive, or too invasive for routine screening. The Syn-One Test offers a minimally invasive approach to detect phosphorylated α-synuclein (P-SYN) pathology in skin biopsies.
Primary Objectives
- Identify which ET patients have P-SYN pathology indicative of prodromal PD
- Predict which patients are most likely to phenoconvert to PD
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 50 Years 至 85 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age 50-85 years old
- •Diagnosis of ET as defined by the 2018 MDS Task force paper "1) isolated tremor syndrome of bilateral upper limb action tremor 2) at least 3 years' duration 3) with or without tremor in other locations (e.g., head, voice, or lower limbs) 4) absence of other neurological signs, such as dystonia, ataxia, or parkinsonism." OR
- •Diagnosis of ET-Plus as stated by the 2018 MDS Task force paper, "Tremor with the characteristics of ET and additional neurological signs of uncertain significance such as impaired tandem gait, questionable dystonic posturing, memory impairment, or other mild neurologic signs of unknown significance that do not suffice to make an additional syndrome classification or diagnosis. ET with tremor at rest should be classified here."
- •Willing to participate in all study procedures
- •Able and willing to provide written informed consent
排除标准
- •Under age 50, Over age 85
- •Clinical evidence of severe peripheral vascular disease
- •Clinically active coronary artery or cerebrovascular disease
- •Participant is currently on anticoagulant or dual anti-platelet therapy
- •Alcoholism
- •Allergic reaction to local anesthesia
- •History of or increased risk for impaired wound healing, scarring, or keloid formation
- •Diagnosis of ET or ET-Plus that is clinically determined to likely be secondary to brain injury or vascular compromise
- •History of other neurodegenerative disorder or evidence of neurological co-pathology
- •Abnormal DaTscan
- •Participant is currently receiving treatment with carbidopa-levodopa for PD
- •Isolated focal tremors (head, voice)
- •Task-specific tremor (e.g., primary writing tremor)
- •Position-specific tremors that does not otherwise meet clinical diagnostic criteria for ET
- •Sudden onset and step-wise deterioration
- •Prior to enrollment, receipt of an intracranial procedure intended to treat tremor or parkinsonism, including thalamic deep brain stimulation (DBS) implantation or focused ultrasound (FUS) thalamotomy. Other prior intracranial surgery is exclusionary only when, in the investigator's or Sponsor's Chief Medical Officer's judgment, it could materially affect motor assessments, diagnostic classification, participant safety, or interpretation of study outcomes.
研究组 & 干预措施
Essential Tremor
Those diagnosed with Essential Tremor
Essential Tremor Plus
Those diagnosed with Essential Tremor Plus
结局指标
主要结局
Quantity of P-SYN in skin
时间窗: From enrollment to completion of study participation from Baseline to Month 12 and then to Month 24
Quantity of P-SYN in biopsies as a biomarker for disease progression
Rate of Phenoconversion
时间窗: From enrollment to completion of study participation from Baseline to Month 12 and then to Month 24
Rate of phenoconversion from Essential Tremor to Parkinson's Disease over 24 months
次要结局
未报告次要终点