Genetics in Parkinson's Disease: Behavioral and Cognitive Outcomes in Patients Undergoing Dopaminergic Treatment
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 68
- 试验地点
- 1
- 主要终点
- Pittsburgh Sleep Quality Index
研究概览
简要总结
The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a significant minority in PD cases and high frequency, low penetrance variants, which contribute a small increase of the risk of developing sporadic PD. This knowledge has the potential to have a major impact in the clinical care of people with PD.
The goal of this observational study is to evaluate the impact of genetic mutation on behavior and cognition in PD patients.
Patients will be assessed over time using test, questionnaire and standardised clinica scales. An initial assessment and annual follow-up assessments will be carried out for 5 years.
Researchers will compare data collected from patients with genetic mutation versus patients without mutation.
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
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •diagnosed with Parkinson's Disease (PD)
- •in use of dopaminergic medication (L-Dopa and/or dopamine agonists)
- •genetic testing for mendelian forms of PD
- •able to provide informed consent to participate in the study
排除标准
- •Patients underwent Deep Brain Stimulation (DBS) treatment
结局指标
主要结局
Pittsburgh Sleep Quality Index
时间窗: Annual assessments up to 5 years
Sleep Quality change (PSQI, min 0, max 21, higher score means poorer sleep quality)
Parkinson's Disease Questionnaire-8
时间窗: Annual assessments up to 5 years
Quality of life change from baseline to 5 years (PDQ-8, min 0, max 100, higher score means worse outcome)
Montreal Cognitive Assessment
时间窗: Annual assessments up to 5 years
Cognitive impairment change from baseline until 5 years in Montreal Cognitive Assessment (MoCA; min. 0, max. 30, higher score means better outcome)
Beck Depression Inventory
时间窗: Annual assessments up to 5 years
Depressive symptoms change from baseline to 5 year (BDI-II, min 0, max 63, higher score means worse outcome)
State-Trait Anxiety Inventory
时间窗: Annual assessments up to 5 years
Anxiety symptoms change from baseline to 5 year (STAI, min 20, max 80, higher score means worse outcome)
Minnesota Multiphasic Personality Inventory 2-RF
时间窗: Annual assessments up to 5 years
Personality change from baseline to 5 years (MMPI-2-RF, cut-off: T\>65 for clinical scales)
Questionnaire for Impulsive-Compulsive Disorders in Parkinson
时间窗: Annual assessments up to 5 years
Impulsivity change from baseline to 5 years (QUIP, min 0, max 112, higher score means worse outcome)
次要结局
未报告次要终点