Multimodal Study About Absence of Dp140 in Becker Muscular Dystrophy: Brain-muscle Imaging, Cognition and Muscle Function
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 75
- 试验地点
- 1
- 主要终点
- Brain volume
研究概览
简要总结
Monitoring patients with neuromuscular disorders is crucial but doesn't always allow for a sufficiently specific approach to all aspects of the condition. However, in the event of future treatment, it is essential for clinical and research teams to have as much information as possible about the disease, particularly regarding its physical, physiological, biological, and neurological aspects.
In this context, it was consider as vital to investigate in greater depth the links between the presence of certain dystrophin isoforms in patients and their potential impacts on cognitive, neurological, and muscular function. The results of this study could serve as a reference for future research and improve the understanding and management of this disease.
All of this data will allow for a precise evaluation of the effects of a potential treatment on the progression of the disease.
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 50 Years（Adult）
- 性别
- Male
- 接受健康志愿者
- 是
入选标准
- •Genetically confirmed diagnosis of Becker muscular dystrophy
- •Signed ICF
排除标准
- •Individuals presenting contraindications to MRI
- •History of allergy to contrast product
- •Individuals with history of neurological diseases interfering with the study
- •Individuals with concomitant medical conditions that could interfere with the study outcomes
- •subjects who suffer from any type of cancer (or on cancer treatment)
- •obese subjects: BMI>35
- •subjects with cardiac (left-ventricular ejection fraction <40%) and/or respiratory insufficiency (forced vital capacity < 50%) and/or normal ECG
- •Individuals who are not yet or insufficiently stabilized on psychiatric medication
- •Any medical and social condition that may interfere with the study at the discretion of the medical coordinator
- •Guardianship
结局指标
主要结局
Brain volume
时间窗: 2 years
Measurement of grey and white matter volume (in mm3) using brain MRI sequences.
Brain cortical thickness
时间窗: 2 years
Measurement of cortical thickness (in mm) using brain MRI sequences.
Brain water motion
时间窗: 2 years
Measurement of diffusion-based values, including apparent diffusion coefficient (in m2/s) and fractional anisotropy (unitless) using diffusion-weighted MRI sequences.
Brain iron metabolism
时间窗: 2 years
Measurement of brain iron metabolism using MRI-based quantitative susceptibility mapping (measured in parts per million).
Brain function: resting-state and following task
时间窗: 2 years
Measurement of resting-state brain function (default-mode-network) using functional MRI. Measurement of brain activation using fMRI following fronto-executive task (Stroop test).
Intelligence test
时间窗: 2 years
Evaluation of intelligence using Wechsler Scale of Intelligence (WAIS-4).
Psychological evaluation of depression
时间窗: 2 years
Psychological evaluation using Beck Depression Inventory-II (BDI-II).
Psychological evaluation of anxiety
时间窗: 2 years
Psychological evaluation using State-Trait Anxiety Inventory-2 (STAI-Y2).
Psychological evaluation of ADHD
时间窗: 2 years
Psychological evaluation using Connors Adult Rating Scale.
Neuropsychological evaluation of memory for attention and cognitive processing
时间窗: 2 years
Neuropsychological cognitive evaluation of memory for attention and cognitive processing using Free and Cued Selective Reminding Test (FCSRT).
Neuropsychological evaluation of visual memory and executive function
时间窗: 2 years
Neuropsychological cognitive evaluation of visual memory and executive function using Rey-Osterrieth Complex Figure Test (ROCF).
Neuropsychological evaluation of visual attention and task switching
时间窗: 2 years
Neuropsychological cognitive evaluation of visual attention and task switching using Trail Making Test.
Neuropsychological evaluation of inhibition
时间窗: 2 years
Neuropsychological cognitive evaluation of inhibition using Stroop Color and Word Test.
Neuropsychological evaluation of verbal functioning
时间窗: 2 years
Neuropsychological cognitive evaluation of verbal functioning using Phonemic verbal fluency test.
Neuropsychological evaluation of facial expressions.
时间窗: 2 years
Neuropsychological cognitive evaluation of facial expressions using Pictures of Facial Affect test.
Neuropsychological evaluation of empathy
时间窗: 2 years
Neuropsychological cognitive evaluation understanding inappropriateness, speaker's intentions/motivations, speaker's belief, empathy (participant's ability to know how the character would feel), and finally story comprehension using Faux pas Recognition Test. Empathy is also evaluated using The Interpersonal Reactivity Index.
次要结局
- Evaluation of muscle disease progression(2 years)
- Evaluation of muscle disease activity (edema, inflammation, ...)(2 years)
- Evaluation of muscle extracellular volume(2 years)
- Evaluation of energy metabolism.(2 years)
- Evaluation of intramuscular pH.(2 years)
- Evaluation of gait endurance (timed test)(2 years)
- Evaluation of exertion and dyspnea (timed test)(2 years)
- Evaluation of TUG test performance(2 years)
- Motor Function assessment(2 years)
- Muscle strength evaluation(2 years)
- Evaluation of quality of life(2 years)
- Health assessment(2 years)
- Assessment of individual's activity level(2 years)