Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 100
- 试验地点
- 3
- 主要终点
- Identify potentially reversible risk factors for disease progression
研究概览
简要总结
The project aims to retrospectively and prospectively analyze a population of CADASIL patients in order to study the natural history of the disease by correlating the symptom spectrum with genetic risk and specific neuroradiological and biological markers
- Stratifying patients according to their disease risk, this could contribute to the discovery of personalized therapeutic targets.
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
- 是
入选标准
- •patients of either sex older than 18 years of age;
- •finding of a pathogenic mutation on genetic analysis of NOTCH3;
- •in the absence of unambiguous mutation, presence of characteristic deposits (GOM) within small vessels at skin biopsy
排除标准
- •do not meet the diagnostic criteria of CADASIL;
- •are unable to give consent for the study due to aphasic or cognitive impairment or because they are deceased at the time of enrollment and their next of kin refuse to give consent for study participation.
结局指标
主要结局
Identify potentially reversible risk factors for disease progression
时间窗: 0-24 months
At baseline, each patient will undergo collection of demographic and clinical data (e.g., the index event, cerebrovascular risk factors, associated manifestations). Disability will be assessed with the modified Rankin Scale (mRS). Neuropsychological assessment will include administration of the Montreal Cognitive Assesment (MoCA) as a screening test. Some components of executive functions will be assessed by Frontal Assesment Battery (F.A.B) scale as a screening test of executive functions, Trail Making Test (TMT) A and B to assess visual search, psychomotor speed and selective attention (TMT test A) and in addition divided and alternating attention and cognitive flexibility by TMT test B, Attentional Matrices to assess sustained attention and visual search and Modified Five Point Test to assess spatial fluency. Finally by means of the Forward Word Span and Backward Digit Span, Verbal Short-Term Memory and Working Memory will be assessed. Alongside the neuropsychological assessment of
Deepen the knowledge of the clinical phenotype CADASIL patient
时间窗: T0- T1 (24 months)
Each patient with CADASIL will undergo to neuroimaging, correlating it with genotype (NOTCH3 gene mutation search outcome), clinical (e.g., the index event, cerebrovascular risk factors, associated manifestations) and instrumental (radiological) characterization.
次要结局
- Identify clinical, genetic, biological and neuroradiological markers(0-30 months)
- Deepen knowledge of the neuroradiological phenotype of CADASIL patients, depending on the NOTCH3 mutation locus identified (high, moderate or low risk)(0-30 months)