Prodromal Parkinsonian Features in GBA1 Mutation Carriers
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 600
- 试验地点
- 1
- 主要终点
- Building a model to identify carriers of Gaucher disease prone to Parkinson's disease, using tests to assess different domains of PD, including anatomy, cognitive and mental, sleep disorder, and motor.
研究概览
简要总结
Objective of the trial. To define a sub-population which is at increased risk of developing Parkinson, beyond the fact of carrying Gaucher; in this sub-population the investigators shall conduct a comprehensive evaluation that includes a variety of non-invasive tests, whose purpose is to evaluate the state of the pre- Parkinson's disease signs, signs which can appear, even twenty years before the appearance of the disease, and also to compare them to a group of diagnosed Gaucher patients and a group of healthy people who are not carriers of Gaucher disease.
A group of those carriers will be available for trial or for treatment, if there will be a medicine for the prevention of the development of Parkinson, obtainable.
详细描述
The carriers, the healthy people and the Gaucher patients will undergo a number of non-invasive tests, which test the pre-Parkinson signs.
The tests are based on various sense tests, blood tests, measuring of blood pressure, lying and standing, ultra-sound of the brain and a neurological test (test of the nervous system and various questionnaires).
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 40 Years 至 75 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Willing to participate
排除标准
- •PD patients
结局指标
主要结局
Building a model to identify carriers of Gaucher disease prone to Parkinson's disease, using tests to assess different domains of PD, including anatomy, cognitive and mental, sleep disorder, and motor.
时间窗: 8 Years
Carriers of a variant in the GBA1 gene (GBA carriers) are at the highest risk of developing Parkinson disease (PD). A screening study for prodromal PD features in a cohort of obligatory GBA carriers between 40-75 years was initiated to identify candidates for a PD prevention trial. We added healthy controls and GD patients in order to determine the incidence of prodromal PD and for analyzing the differences between the two groups helping to build a model for identifying at risk PD at the prodromal stage. Participants preform 15 pre-defined non-invasive tests for prodromal PD and assessment of risk factors. Risk factors for PD included age, sex, type of GBA1 variant, coffee and tea caffeine consumption, smoking habits, exposure to solvents and pesticides, and family history of PD (1st and/or 2nd degree relatives with PD).
次要结局
未报告次要终点
研究者
Ari Zimran
Prof.
Shaare Zedek Medical Center