NCT03206190招募中不适用
Studying the Prodromal and Early Phase of Hereditary Spastic Paraplegia Type 4 (SPG4)
适应症
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 200
- 试验地点
- 2
- 主要终点
- Identification of a change of recognizable signs or symptoms
研究概览
简要总结
Study goals
- Prospective longitudinal data on progression in the natural course of SPG4 in presymptomatic mutation carriers prior to clinical disease onset and in early stages of disease
- Biomarkers providing objective measures of disease activity
研究设计
- 研究类型
- Interventional
- 分配方式
- Non Randomized
- 干预模型
- Parallel
- 主要目的
- Diagnostic
- 盲法
- Triple (Participant, Care Provider, Investigator)
盲法说明
Two Arms are blinded (mutation carriers vs. non mutation carriers) the third arm is an open-arm for presymptomatic tested mutation carriers
入排标准
- 年龄范围
- 18 Years 至 70 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •First degree relatives (parents, offspring, and sibs) of SPG4 patients or symptomatic individuals with known SPAST mutation
- •Age 18 to 70 years
- •Written, informed consent (patient)
排除标准
- •No known SPAST-mutation within the family
- •Manifest spastic gait (subclinical signs like increased deep tendon reflexes, positive Babinski sign are allowed)
- •Participation in interventional trials
结局指标
主要结局
Identification of a change of recognizable signs or symptoms
时间窗: every two years, up to eight years
Identification of recognizable signs or symptoms and their time course prior to disease-onset defined by the presence of a spastic gait and at least one of three additional features: 1. manifest spasticity in the clinical examination (Ashworth Scale \>0) 2. positive Babinski sign 3. pyramidal pattern of muscle weakness (e.g. hip abduction or foot elevation preferentially involved)
次要结局
- Cognition (MoCA)(every two years, up to eight years)
- MRI (not obligate) - DTI(every two years, up to eight years)
- MRI (not obligate) - volumetry(every two years, up to eight years)
- Nfl(every two years, up to eight years)
- Subclinical progression (10m walking time)(every two years, up to eight years)
- Subclinical progression (5-stair climbing test time)(every two years, up to eight years)
- Subclinical progression (3 minute walking test (3MW))(every two years, up to eight years)
- Non-motor symptoms (quality of life)(every two years, up to eight years)
- Non-motor symptoms (fatigue)(every two years, up to eight years)
- Non-motor symptoms (pain)(every two years, up to eight years)
- Non-motor symptoms (restless-legs)(every two years, up to eight years)
- Cognition (CANTAB)(every two years, up to eight years)
- Non-motor symptoms (SPRS inventory V3)(every two years, up to eight years)
- Non-motor symptoms (depression)(every two years, up to eight years)
- SPRS(every two years, up to eight years)
研究者
Prof. Dr. Ludger Schöls
Prinicipal Investigator
University Hospital Tuebingen
研究点 (2)
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