Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 198
- 试验地点
- 4
- 主要终点
- RDP Severity
研究概览
简要总结
The purposes of this study are to identify persons with rapid-onset dystonia-parkinsonism (RDP) or mutations of the RDP gene, document prevalence of the disease, and map its natural history.
详细描述
Rapid-onset dystonia-parkinsonism (RDP) is a rare, movement disorder with variable characteristics ranging from sudden onset (hours to days) of severe dystonic spasms to gradual onset of writer's cramp. RDP has elements of both dystonia and Parkinson's disease-two neurological diseases with motor and neuropsychological symptoms that hinder the quality of life. An internal trigger associated with extreme physiological stress has been reported prior to abrupt symptom onset of RDP.
This study, which is a continuation of an earlier study begun by Dr. Allison Brashear, aims to more clearly identify the characteristics associated with RDP and to explore whether mutations in the RDP gene are associated with atypical dystonias, Parkinson's disease, and other movement disorders.
The study involves in-person or remote (telemedicine) neurological assessments and blood samples for genetic analysis.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •clinical presentation consistent with ATP1A3 disease (RDP, AHC) or confirmed diagnosis of RDP or AHC
排除标准
- 未提供
研究组 & 干预措施
ATP1A3 Mutation
Those with RDP, AHC, unaffected carriers of ATP1A3 mutations, and non-carrying family members
结局指标
主要结局
RDP Severity
时间窗: Visit 1 (baseline)
History of symptom onset and duration will be obtained and current degree of severity assessed.
次要结局
- Presence of neuropsychiatric disease(Will be assessed at Visits 1 (baseline) and 2 (24 months), approximately 2 years apart)
研究者
Allison Brashear, MD, MBA
Dean, Jacobs School of Medicine and Biomedical Sciences
State University of New York at Buffalo