Phenotype, Genotype and Biomarkers 2
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 217
- 试验地点
- 8
- 主要终点
- Rates of change in revised ALS functional rating scale (ALSFRS-R)
研究概览
简要总结
The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA) and multisystem proteinopathy (MSP). More precisely, the investigator wants to identify the links that exist between the disease phenotype (phenotype refers to observable signs and symptoms) and the disease genotype (genotype refers to your genetic information). The investigator also wants to identify biomarkers of ALS and related diseases.
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
- 7 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •for affected individuals (primary participants) include:
- •Clinical diagnosis or suspicion of ALS or a related disorder, including, but not limited to, ALS-FTD, PLS, HSP, FTD, Multisystem Proteinopathy (MSP) and PMA.
- •Subject is able and willing to comply with study procedures
排除标准
- •for affected individuals (primary participants) include:
- •Subjects with a condition or who are in a situation which, in the PI's opinion, could confound the study finding or may interfere significantly with the individual's participation and compliance with the study protocol -- including but not limited to neurological, psychological and/or medical conditions
- •Inclusion criteria for biological family members (secondary participants) include:
- •Family member of an enrolled affected primary participant
- •Exclusion Criteria for biological family members (secondary participants) include:
- •Subjects with a condition or who are in a situation which, in the PI's opinion, could confound the study finding or may interfere significantly with the individual's participation and compliance with the study protocol -- including but not limited to neurological, psychological and/or medical conditions
结局指标
主要结局
Rates of change in revised ALS functional rating scale (ALSFRS-R)
时间窗: 48 months
Prepare motor outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease
Serum
时间窗: 48 months
Determine the diagnostic utility of serum neurofilament concentrations
Rates of change in Spastic paraplegia rating scale (SPRS)
时间窗: 48 months
Prepare cognitive and behavioral outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease
Rates of change in Edinburgh Cognitive and Behavioral ALS Screen (ECAS)
时间窗: 48 months
Prepare cognitive and behavioral outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease
ALS Health Index (ALS-HI)
时间窗: 48 months
Validate the ALS Health Index (ALS-HI), a novel patient reported outcome (PRO) measure
Cerebrospinal Fluid (CSF)
时间窗: 48 months
Determine the diagnostic utility of CSF neurofilament concentrations
Rates of change in Slow vital capacity (SVC)
时间窗: 48 months
Prepare motor outcome measures for clinical trials in sub-populations of patients with ALS or a related disorder who have identifiable genetic causes of disease
次要结局
未报告次要终点
研究者
Michael Benatar
Professor
University of Miami