Neuropsychiatry and Cognition in the Context of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD)
试验速览
- 阶段
- 不适用
- 入组人数
- 144
- 试验地点
- 1
- 主要终点
- Cerebellar Cognitive Affective Syndrome Scale
研究概览
简要总结
This research investigates how cognitive-affective aspects evolve during the course of SCA3/MJD. Due to COVID-19 pandemics, this study protocol was adapted for online-only consultations. Evaluations happening after March 2020 have been done by videocall with patients, and no neurological evaluation was thus performed on these patients. A scale on Activities of Daily Living was added to the online protocol to replace SARA, SCAFI and CCFS scales.
详细描述
By the end of this study, the evaluated population will be composed of 144 participants: 36 ataxic SCA3/MJD carriers, 72 at 50% risk of carrying the SCA3/MJD mutation and 36 healthy controls. Ataxic subjects are invited to participate if they have an established molecular diagnosis of SCA3/MJD and have a SARA score greater than 2.5 points. At risk subjects are composed by the offspring of molecularly diagnosed SCA3/MJD subjects that have a SARA<3. Healthy controls belonging either to families living with the disease or to the general population are invited to participate according to how well they match with ataxic subjects included in the study. Subjects are invited to participate in the study and, after constentment procedures, cognitive-affective assessments and a scale on Activities of Daily Living (ADL) are performed on a videocall. At risk subjects collect a blood sample for double bilnd determination of their carrier status. Before March 2020, all procedures were performed in person and, instead of ADL, SARA, SCAFI and CCFS were obtained.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Symptomatic:
- •older than 18 year old;
- •molecular diagnosis of SCA3/MJD;
- •At 50% risk:
- •older than 18 year old;
- •have a parent with molecular diagnosis of SCA3/MJD;
- •Healthy Controls
- •older than 18 year old;
- •no genetic relationship with a SCA3/MJD carrier.
排除标准
- •Non agreement in signing the informed consent;
- •Healthy Controls: having any history of genetic disorders in their families or any psychiatric or neurologic disorder.
结局指标
主要结局
Cerebellar Cognitive Affective Syndrome Scale
时间窗: Through study completion, an average of 1 year
Study the performance on the Cerebellar Cognitive Affective Syndrome Scale of SCA3/MJD symptomatic subjects when compared to matched healthy controls and of pre-symptomatic subjects when compared to familial healthy controls.
Stroop Color-Word Test
时间窗: Through study completion, an average of 1 year
Study the performance on the Stroop Color-Word Test of SCA3/MJD symptomatic subjects when compared to matched healthy controls and of pre-symptomatic subjects when compared to familial healthy controls.
Emotion Attribution in different phases of the disease
时间窗: Through study completion, an average of 1 year
Study the performance of pre-symptomatic SCA3/MJD carriers in the Reading the Mind in the Eyes Test.
Hamilton Depression Rating Scale
时间窗: Through study completion, an average of 1 year
Study the profile of symptomatic and pre-symptomatic SCA3/MJD carriers in the Hamilton Depression Rating Scale.
Trail-Making Test Part A and B
时间窗: Through study completion, an average of 1 year
Study the performance on the Trail-Making Test Part A and B of SCA3/MJD symptomatic subjects when compared to matched healthy controls and of pre-symptomatic subjects when compared to familial healthy controls.
Emotion Attribution impairment in SCA3/MJD
时间窗: Through study completion, an average of 1 year
Study the performance of symptomatic SCA3/MJD carriers in the Reading the Mind in the Eyes Test.
Hamilton Anxiety Rating Scale
时间窗: Through study completion, an average of 1 year
Study the profile of symptomatic and pre-symptomatic SCA3/MJD carriers in the Hamilton Anxiety Rating Scale.
次要结局
- Scale for the Assessment and Rating of Ataxia (SARA)(Through study completion, an average of 1 year)
- Composite Cerebellar Functional Severity Score (CCFS)(Through study completion, an average of 1 year)
- Friedreich Ataxia Rating Scale part II (FARS part II)(Through study completion, an average of 1 year)
- SCA Functional Index(Through study completion, an average of 1 year)