Clinical Trial Readiness Network FSHD France: Prospective 24 Months MRI Study
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 100
- 试验地点
- 6
- 主要终点
- Validate optimized Timed Up and Go Test (optimized TUG) as COA
研究概览
简要总结
The overall aim of this study is to hasten drug development for facioscapulohumeral muscular dystrophy (FSHD). Recent breakthroughs in FSHD research have identified the primary disease mechanism as the aberrant expression of a normally silenced gene, DUX4, resulting in a toxic gain-of-function. This disease mechanism is particularly amenable to knock-down of DUX4 using epigenetic strategies or RNA therapies, as well as to other interventions targeting the downstream effects of DUX4 expression. There are many drug companies actively working towards disease-targeted therapies, and two clinical trials either under way now, or planned to start in early Fall 2016. However, meetings with industry, advocacy groups, and FSHD researchers have identified several gaps in the clinical trial arsenal, and clinical trial planning as a major goal for the community. Consequently, there is an urgent need to establish the tools necessary for the conduct of currently planned and expected therapeutic trials in FSHD.
To this end, the researchers propose to develop two novel clinical outcome assessments (COA), a composite functional outcome measure (FSH-COM) and skeletal muscle biomarker, electrical impedance myography (EIM). In addition there is broad consensus a better understanding of the relationship of genetic and demographic features to disease progression will be necessary for enumerating eligibility criteria.
The specific aims are to: 1. Determine the multi-site validity of the COAs, 2. Compare the responsiveness of new COAs to other FSHD outcomes and determine the minimal clinically meaningful changes, and 3. establish FSHD cohort characteristics useful for determining clinical trial eligibility criteria. To achieve these aims, the Nice University Hospital is conducting a monocentric, prospective, 18 month study on 30 subjects.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Other
- 盲法
- None
入排标准
- 年龄范围
- 18 Years 至 75 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Validate optimized Timed Up and Go Test (optimized TUG) as COA
时间窗: at baseline, 12, 18 and 24 months
Balance and mobility in patients able to walk at most 30 meters will be assessed using the optimized Timed Up and Go test (TUG). The optimized TUG test measures, in seconds, the time taken by patient to sit up from a lying down position (1st time interval); stand up from the mat (approximate height of 46 cm, walk 3 meters, turn, walk back to the mat, sit down (2nd time interval); and lie down to return to starting position (3rd time interval).
Validate FSHD-COM in French as COA
时间窗: at baseline, 12, 18 and 24 months
The FSHD-COM is an 18-item evaluator-administered instrument comprised of individually validated functional motor tasks. The body regions represented match areas of importance identified by patients and include: leg function; shoulder and arm function; trunk function, hand function; and balance. Each item is scored on a 0-4 scale, with 0 representing unaffected/normal performance, and the divisions based on healthy population normative values, or the relative degree of ability to perform the functional task. The total scale has 72 points, with larger weight given to the two most frequently patient-cited areas of functional motor concern - leg function and shoulder and arm function.
次要结局
- Change of the Manual Muscle Testing (MMT) from Baseline to 12, 18 and 24 months(at baseline, 12, 18 and 24 months)
- Validate the work questionnaire as COA(at baseline, 12, 18 and 24 months)
- Validate the Severity Scores (CSS) as COA(at baseline, 12, 18 and 24 months)
- Validate the Severity Scores (FCS) as COA(at baseline, 12, 18 and 24 months)
- Change of the respiratory function (sitting and bedside spirometry) from Baseline to 12, 18 and months(at baseline, 12, 18 and 24 months)
- Validate the fall and exercice questionnaire as COA(at baseline, 12, 18 and 24 months)
- Validate the Patient-Reported Outcomes Measurement Information System-57 (PROMIS57) as COA(at baseline, 18 and 24 months)
- Validate the Quantitative Muscle Testing (QMT) as COA(at baseline, 12, 18 and 24 months)
- Validate the Sydney Swallow Questionnaire (SSQ) as COA(at baseline, 18 and 24 months)
- Change of the Motor Function Measure-32 (MFM-32) from Baseline to 12, 18 and 24 months(at baseline, 12, 18 and 24 months)
- Validate the Upper Extremity Functional Index 15 (UEFI15) as COA(at baseline, 18 and 24 months)
- Validate the Facial Disability Index (FDI) as COA(at baseline, 18 and 24 months)
- Validate the Iowa Oral Performance Instrument (IOPI) as COA(at baseline, 12, 18 and 24 months)
- Validate Muscle Magnetic Resonance Imaging (MRI) as COA(at baseline, 12 and 24 months)
- Validate the Multidimensional Dyspnea Profile (MDP) as COA(at baseline, 18 and 24 months)