Prospective and Controlled Glucocerebrosidase-related Parkinson's Disease Evaluation of Non Motor Symptoms (PROGENS-PD)
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 发起方
- 入组人数
- 40
- 试验地点
- 2
- 主要终点
- Change in non motor symptoms scale from 18 months to 24 months
研究概览
简要总结
The goal of this observational study is to describe non motor symptoms in a prospective study of patients with Parkinson's disease associated to glucocerebrosidase (GBA-PD) mutations.
The main questions it aims to answer are:
- Do GBA-PD patients have a greater burden of non motor symptoms?
- How do these non motor symptoms evolve during a prospective follow up of two years?
- Are these non motor symptoms different from those that affect Parkinson's disease patients without glucocerebrosidase mutations (non GBA-PD), in prevalence, severity and type?
- Do these non motor symptoms correlate with objective measures such as posturography or speed reaction tests?
- Is there a test or combination of tests that can predict the appearance of early or severe non motor symptoms?
For this reason researchers will compare the GBA-PD group of patients with a group of non mutated GBA Parkinson disease.
Participants will undergo a neurological and neuropsychological evaluation with different tests in subsequent visits for a total of 2 years.
详细描述
Parkinson's disease is the second most prevalent neurodegenerative disorder worldwide. Up to date, the main risk factor for its development is carrying an heterozygous mutation in glucocerebrosidase gene (GBA). GBA codifies for a GC-ase protein that takes part in lysosomal function. The homozygous mutation of this gene gives rise to Gaucher disease, which is a lysosomal disorder. This gene has also been associated with Lewy body dementia.
The presence of an heterozygous mutation in GBA in Parkinson's disease can be found in up to 5-15% of the patients, depending on age and ethnicity. It has been described that those patients carrying the mutation can have an earlier debut of the disease.
According to non motor symptoms, patients are prone to develop earlier and more severe motor symptoms. This has been studied specially in cognitive impairment but also dysautonomia, impulse control disorder and others.
In relation to cognitive impairment these patients usually develop an earlier and more severe affection, reaching dementia states earlier in the disease. Some studies have described a worsening in cognitive function in GBA mutated patients after deep brain stimulation (DBS) to treat parkinsonian symptoms. This prevents patients from being candidates to therapies such as DBS.
For this reason, the investigators consider it important to make a proper description of non motor symptoms in GBA mutated parkinsonian patients, since this finding can help to delineate the prognosis and choose individualized treatments, regarding the suggested differences with other Parkinson's disease patients.
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
- •Aged over 18 years old.
- •Fulfill Parkinson's disease criteria of Movement Disorder Society
- •Parkinson's disease symptoms began before they were 70 and/or Parkinson's disease family history.
- •Underwent a genetic test of Parkinson's disease related genes.
- •Heterozygous mutation of glucocerebrosidase gene (only cases).
- •Absence of mutation in the Parkinson's disease genetic test (only controls).
排除标准
- •Suspicion of atypical parkinsonism.
- •Personal history of other neurodegenerative disorders such as Alzheimer's disease.
- •Personal history of significant cerebrovascular damage, intracraneal lessions or important craneoencephalic trauma.
- •Deep brain stimulation treatment for Parkinson's disease.
- •Moderate or severe dementia that precludes from performing the tests.
结局指标
主要结局
Change in non motor symptoms scale from 18 months to 24 months
时间窗: 6 months
To determine the non motor symptoms profile and its evolution through non motor symptoms scale in glucocerebrosidase mutated Parkinson's disease in comparison with those without mutations. 30 items with total scores from 0 to 360, higher scores meaning higher non motor symptoms burden.
Change in non motor symptoms scale from baseline to 6 months
时间窗: 6 months
To determine the non motor symptoms profile and its evolution through non motor symptoms scale in glucocerebrosidase mutated Parkinson's disease in comparison with those without mutations. 30 items with total scores from 0 to 360, higher scores meaning higher non motor symptoms burden.
Change in non motor symptoms scale from 6 months to 1 year
时间窗: 6 months
To determine the non motor symptoms profile and its evolution through non motor symptoms scale in glucocerebrosidase mutated Parkinson's disease in comparison with those without mutations. 30 items with total scores from 0 to 360, higher scores meaning higher non motor symptoms burden.
Change in non motor symptoms scale from baseline to 2 years
时间窗: 2 years
To determine the non motor symptoms profile and its evolution through non motor symptoms scale in glucocerebrosidase mutated Parkinson's disease in comparison with those without mutations. 30 items with total scores from 0 to 360, higher scores meaning higher non motor symptoms burden.
Change in non motor symptoms scale from 12 months to 18 months
时间窗: 6 months
To determine the non motor symptoms profile and its evolution through non motor symptoms scale in glucocerebrosidase mutated Parkinson's disease in comparison with those without mutations. 30 items with total scores from 0 to 360, higher scores meaning higher non motor symptoms burden.
次要结局
- Change in Montreal Cognitive Assessment scale from 6 months to 12 months(6 months)
- Change in Parkinson's disease cognitive rating scale from baseline to 6 months(6 months)
- Change in Parkinson's disease cognitive rating scale from baseline to 24 months(2 years)
- Change in Rey figure from baseline to 24 months(2 years)
- Change in Montreal Cognitive Assessment scale from18 months to 24 months(6 months)
- Change in Line Orientation Judgement scale from baseline to 6 months(6 months)
- Change in Line Orientation Judgement scale from 6 months to 12 months(6 months)
- Change in Rey figure from 18 months to 24 months(6 months)
- Change in Weschler Memory test from baseline to 6 months(6 months)
- Change in Weschler Memory test from 12 months to 18 months(6 months)
- Change in Stroop test from baseline to 24 months(2 years)
- Change in Stroop test from baseline to 6 months(6 months)
- Change in Trail Making Test A from 12 months to 18 months(6 months)
- Change in Montreal Cognitive Assessment scale from baseline to 6 months(6 months)
- Change in Rey figure from 12 months to 18 months(6 months)
- Change in Stroop test from 6 months to 12 months(6 months)
- Change in Trail Making Test B from baseline to 24 months(2 years)
- Change in Trail Making Test A from baseline to 6 months(6 months)
- Change in Trail Making Test A from 6 months to 12 months(6 months)
- Change in Questionnaire for impulsive-compulsive disorders in Parkinson's disease (QUIP-RS) from baseline to 2 years(2 years)
- Change in Montreal Cognitive Assessment scale from baseline to 2 years(2 years)
- Change in Montreal Cognitive Assessment scale from12 months to 18 months(6 months)
- Change in Parkinson's disease cognitive rating scale from 12 months to 18 months(6 months)
- Change in Parkinson's disease cognitive rating scale from 18 months to 24 months(6 months)
- Change in Weschler Memory test from baseline to 24 months(2 years)
- Change in Stroop test from 12 months to 18 months(6 months)
- Change in Trail Making Test A from baseline to 24 months(2 years)
- Change in Parkinson's disease cognitive rating scale from 6 months to 12 months(6 months)
- Change in Line Orientation Judgement scale from baseline to 24 months(2 years)
- Change in Line Orientation Judgement scale from 12 months to 18 months(6 months)
- Change in Line Orientation Judgement scale from 18 months to 24 months(6 months)
- Change in Rey figure from baseline to 6 months(6 months)
- Change in Rey figure from 6 months to 12 months(6 months)
- Change in Trail Making Test B from 6 months to 12 months(6 months)
- Change in Questionnaire for impulsive-compulsive disorders in Parkinson's disease (QUIP-RS) from 18 months to 24 months(6 months)
- Change in Weschler Memory test from 6 months to 12 months(6 months)
- Change in Weschler Memory test from 18 months to 24 months(6 months)
- Change in Stroop test from 18 months to 24 months(6 months)
- Change in Trail Making Test B from baseline to 6 months(6 months)
- Change in Trail Making Test B from 18 months to 24 months(6 months)
- Change in Questionnaire for impulsive-compulsive disorders in Parkinson's disease (QUIP-RS) from 6 months to 12 months(6 months)
- Change in Questionnaire for impulsive-compulsive disorders in Parkinson's disease (QUIP-RS) from 12 months to 18 months(6 months)
- Change in Neuropsychiatric inventory from baseline to 6 months(6 months)
- Change in Parkinson's disease sleep scale from baseline to 24 months(2 years)
- Change in Parkinson's disease sleep scale from 12 months to 18 months(6 months)
- Change in Trail Making Test B from 12 months to 18 months(6 months)
- Change in Questionnaire for impulsive-compulsive disorders in Parkinson's disease (QUIP-RS) from baseline to 6 months(6 months)
- Change in Neuropsychiatric inventory from 6 months to 12 months(6 months)
- Change in Neuropsychiatric inventory from 12 months to 18 months(6 months)
- Change in Trail Making Test A from 18 months to 24 months(6 months)
- Change in Neuropsychiatric inventory from baseline to 2 years(2 years)
- Change in Apathy Evaluation Scale from 6 months to 12 months(6 months)
- Change in Stai-trait Anxiety Inventory from baseline to 24 months(2 years)
- Change in Stai-trait Anxiety Inventory from baseline to 6 months(6 months)
- Change in Parkinson's disease sleep scale from baseline to 6 months(6 months)
- Change in Apathy Evaluation Scale from 18 months to 24 months(6 months)
- Change in Neuropsychiatric inventory from 18 months to 24 months(6 months)
- Change in Stai-trait Anxiety Inventory from 6 months to 12 months(6 months)
- Change in Stai-trait Anxiety Inventory from 12 months to 18 months(6 months)
- Change in Parkinson's disease sleep scale from 6 months to 12 months(6 months)
- Change in Apathy Evaluation Scale from baseline to 24 months(2 years)
- Change in Apathy Evaluation Scale from baseline to 6 months(6 months)
- Change in Apathy Evaluation Scale from 12 months to 18 months(6 months)
- Change in Beck Depression Inventory from baseline to 24 months(2 years)
- Change in Beck Depression Inventory from 6 months to 12 months(6 months)
- Change in Beck Depression Inventory from 12 months to 18 months(6 months)
- Change in Stai-trait Anxiety Inventory from 18 months to 24 months(6 months)
- Change in Rapid Eye Movement Sleep Behavior Disorder Screening Questionnaire from baseline to 24 months(2 years)
- Change in Beck Depression Inventory from baseline to 6 months(6 months)
- Change in Beck Depression Inventory from 18 months to 24 months(6 months)
- Change in Epworth Sleepiness Scale from baseline to 24 months(2 years)
- Change in Epworth Sleepiness Scale from baseline to 6 months(6 months)
- Change in Berg balance scale from 6 months to 12 months(6 months)
- Change in limits of stability from baseline to 24 months(2 years)
- Change in limits of stability from 6 months to 12 months(6 months)
- Change in limits of stability from 12 months to 18 months(6 months)
- Change in speed reaction test from 6 months to 12 months(6 months)
- Change in Parkinson's disease sleep scale from 18 months to 24 months(6 months)
- Change in REM Sleep Behavior Disorder Screening Questionnaire from baseline to 6 months(6 months)
- Change in REM Sleep Behavior Disorder Screening Questionnaire from to 18 months to 24 months(6 months)
- Change in Epworth Sleepiness Scale from 6 months to 12 months(6 months)
- Change in Epworth Sleepiness Scale from 18 months to 24 months(6 months)
- Change in Restless Legs Syndrome Rating Scale from baseline to 24 months(2 years)
- Change in Restless Legs Syndrome Rating Scale from 6 months to 12 months(6 months)
- Change in speed reaction test from 12 months to 18 months(6 months)
- Change in Restless Legs Syndrome Rating Scale from baseline to 6 months(6 months)
- Change in REM Sleep Behavior Disorder Screening Questionnaire from to 6 months to 12 months(6 months)
- Change in REM Sleep Behavior Disorder Screening Questionnaire from to 12 months to 18 months(6 months)
- Change in Epworth Sleepiness Scale from 12 months to 18 months(6 months)
- Change in Restless Legs Syndrome Rating Scale from 18 months to 24 months(6 months)
- Change in Berg balance scale from 12 months to 18 months(6 months)
- Change in Berg balance scale from 18 months to 24 months(6 months)
- Change in Berg balance scale from baseline to 24 months(2 years)
- Change in Berg balance scale from baseline to 6 months(6 months)
- Change in limits of stability from baseline to 6 months(6 months)
- Change in limits of stability from 18 months to 24 months(6 months)
- Change in speed reaction test from baseline to 24 months(2 years)
- Change in Movement Disorder's Society- Unified Parkinson's Disease Rating Scale part IV scale from baseline to 6 months(6 months)
- Change in Movement Disorder's Society- Unified Parkinson's Disease Rating Scale pary IV scale from 12 months to 18 months(6 months)
- Change in Hoehn and Yahr scale from 6 months to 12 months(6 months)
- Change in Restless Legs Syndrome Rating Scale from 12 months to 18 months(6 months)
- Change in speed reaction test from baseline to 6 months(6 months)
- Change in Movement Disorder's Society- Unified Parkinson's Disease Rating Scale part II from 18 months to 24 months(6 months)
- Change in Movement Disorder's Society- Unified Parkinson's Disease Rating Scale part IV scale from 6 months to 12 months(6 months)
- Change in Hoehn and Yahr scale from 18 months to 24 months(6 months)
- Change in Parkinson's disease Questionnaire-39 from 12 months to 18 months(6 months)
- Change in number of Parkinson's disease treatments from 6 months to 12 months(6 months)
- Change in number of Parkinson's disease treatments from 12 to 18 months(6 months)
- Change in speed reaction test from 18 months to 24 months(6 months)
- Change in Movement Disorder's Society- Unified Parkinson's Disease Rating Scale part II scale from baseline to 24 months(2 years)
- Change in Movement Disorder's Society- Unified Parkinson's Disease Rating Scale part II from 6 months to 12 months(6 months)
- Change in Movement Disorder's Society- Unified Parkinson's Disease Rating Scale part II from 12 months to 18 months(6 months)
- Change in Movement Disorder's Society- Unified Parkinson's Disease Rating Scale part III scale from baseline to 6 months(6 months)
- Change in Movement Disorder's Society- Unified Parkinson's Disease Rating Scale part III scale from 12 months to 18 months(6 months)
- Change in Movement Disorder's Society- Unified Parkinson's Disease Rating Scale part III scale from 18 months to 24 months(6 months)
- Change in Movement Disorder's Society- Unified Parkinson's Disease Rating Scale part III scale from baseline to 24 months(2 years)
- Change in Movement Disorder's Society- Unified Parkinson's Disease Rating Scale part IV scale from baseline to 24 months(2 years)
- Change in Movement Disorder's Society- Unified Parkinson's Disease Rating Scale part IV scale from 18 months to 24 months(6 months)
- Change in Hoehn and Yahr scale from baseline to 6 months(6 months)
- Change in Movement Disorder's Society- Unified Parkinson's Disease Rating Scale part II from baseline to 6 months(6 months)
- Change in Movement Disorder's Society- Unified Parkinson's Disease Rating Scale part III scale from 6 months to 12 months(6 months)
- Change in Parkinson's disease Questionnaire-39 from baseline to 24 months(2 years)
- Change in Parkinson's disease Questionnaire-39 from baseline to 6 months(6 months)
- Change in Parkinson's disease Questionnaire-39 from 18 months to 24 months(6 months)
- Change in Hoehn and Yahr scale from baseline to 24 months(2 years)
- Change in Hoehn and Yahr scale from 12 months to 18 months(6 months)
- Change in number of Parkinson's disease treatments from baseline to 24 months(2 years)
- Change in number of Parkinson's disease treatments from baseline to 6 months(6 months)
- Change in Parkinson's disease Questionnaire-39 from 6 months to 12 months(6 months)
- Change in number of Parkinson's disease treatments from 18 to 24 months(6 months)
研究者
Juan Pablo Romero. MD, PhD
Clinical professor
Universidad Francisco de Vitoria