Multimodal Study About Absence of Dp140 in Becker Muscular Dystrophy: Brain-muscle Imaging, Cognition and Muscle Function (MyoBrain-BMD)
2026年7月28日 更新者：Institut de Myologie, France
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.
研究概览
地位
尚未招聘
条件
研究类型
观察性的
注册 (估计的)
75
联系人和位置
本节提供了进行研究的人员的详细联系信息，以及有关进行该研究的地点的信息。
学习联系方式
- 姓名：Harmen REYNGOUDT, PhD
- 电话号码：01 42 16 58 91
- 邮箱：h.reyngoudt@institut-myologie.org
学习地点
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-
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Paris、法国、75651
- Institute of Mythology
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接触：
- Tanya STOJKOVIC, Md
- 电话号码：01 42 16 37 76
- 邮箱：t.stojkovic@institut-myologie.org
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参与标准
研究人员寻找符合特定描述的人，称为资格标准。这些标准的一些例子是一个人的一般健康状况或先前的治疗。
资格标准
适合学习的年龄
- 成人
接受健康志愿者
是的
取样方法
非概率样本
研究人群
Fifty patients will be included, including 25 patients having the cerebral Dp140 isoform (Dp140+) and 25 patients lacking the cerebral Dp140 isoform (Dp140-).
A same number (n=25) of age-matched healthy volunteers will be included as well.
描述
Inclusion Criteria:
- Genetically confirmed diagnosis of Becker muscular dystrophy
- Ambulant
- Signed ICF
Exclusion Criteria:
- 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
学习计划
本节提供研究计划的详细信息，包括研究的设计方式和研究的衡量标准。
研究是如何设计的？
设计细节
队列和干预
团体/队列 |
|---|
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健康受试者
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BMD patients Dp140+
Dp140+
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BMD patients Dp140-
Dp140-
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研究衡量的是什么？
主要结果指标
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Brain volume
大体时间：2 years
|
Measurement of grey and white matter volume (in mm3) using brain MRI sequences.
|
2 years
|
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Brain cortical thickness
大体时间：2 years
|
Measurement of cortical thickness (in mm) using brain MRI sequences.
|
2 years
|
|
Brain water motion
大体时间：2 years
|
Measurement of diffusion-based values, including apparent diffusion coefficient (in m2/s) and fractional anisotropy (unitless) using diffusion-weighted MRI sequences.
|
2 years
|
|
Brain iron metabolism
大体时间：2 years
|
Measurement of brain iron metabolism using MRI-based quantitative susceptibility mapping (measured in parts per million).
|
2 years
|
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Brain function: resting-state and following task
大体时间：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).
|
2 years
|
|
Intelligence test
大体时间：2 years
|
Evaluation of intelligence using Wechsler Scale of Intelligence (WAIS-4).
|
2 years
|
|
Psychological evaluation of depression
大体时间：2 years
|
Psychological evaluation using Beck Depression Inventory-II (BDI-II).
|
2 years
|
|
Psychological evaluation of anxiety
大体时间：2 years
|
Psychological evaluation using State-Trait Anxiety Inventory-2 (STAI-Y2).
|
2 years
|
|
Psychological evaluation of ADHD
大体时间：2 years
|
Psychological evaluation using Connors Adult Rating Scale.
|
2 years
|
|
Neuropsychological evaluation of memory for attention and cognitive processing
大体时间：2 years
|
Neuropsychological cognitive evaluation of memory for attention and cognitive processing using Free and Cued Selective Reminding Test (FCSRT).
|
2 years
|
|
Neuropsychological evaluation of visual memory and executive function
大体时间：2 years
|
Neuropsychological cognitive evaluation of visual memory and executive function using Rey-Osterrieth Complex Figure Test (ROCF).
|
2 years
|
|
Neuropsychological evaluation of visual attention and task switching
大体时间：2 years
|
Neuropsychological cognitive evaluation of visual attention and task switching using Trail Making Test.
|
2 years
|
|
Neuropsychological evaluation of inhibition
大体时间：2 years
|
Neuropsychological cognitive evaluation of inhibition using Stroop Color and Word Test.
|
2 years
|
|
Neuropsychological evaluation of verbal functioning
大体时间：2 years
|
Neuropsychological cognitive evaluation of verbal functioning using Phonemic verbal fluency test.
|
2 years
|
|
Neuropsychological evaluation of facial expressions.
大体时间：2 years
|
Neuropsychological cognitive evaluation of facial expressions using Pictures of Facial Affect test.
|
2 years
|
|
Neuropsychological evaluation of empathy
大体时间：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.
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2 years
|
次要结果测量
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Evaluation of muscle disease progression
大体时间：2 years
|
Evaluation of disease progression based on quantitative assessment of MRI-based muscle fat fraction (FF, in %) and residual muscle (i.e.
contractile cross-sectional area, in cm2) in lower limb (individual thigh and leg muscles).
|
2 years
|
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Evaluation of muscle disease activity (edema, inflammation, ...)
大体时间：2 years
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Evaluation of qMRI-biomarkers sensitive to active muscle damage or disease activity such as water T2 and water T1 mapping, expressed in milliseconds (individual thigh and leg muscles).
|
2 years
|
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Evaluation of muscle extracellular volume
大体时间：2 years
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Evaluation of extracellular volume (ECV) in muscle (unitless or %) will be assessed using qMRI-based T1 mapping before and after contrast agent injection (individual thigh and leg muscles).
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2 years
|
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Evaluation of energy metabolism.
大体时间：2 years
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Evaluation of energy metabolism using qMRI and 31P magnetic resonance spectroscopy.
|
2 years
|
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Evaluation of intramuscular pH.
大体时间：2 years
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Evaluation of intramuscular pH using qMRI and 31P magnetic resonance spectroscopy.
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2 years
|
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Evaluation of gait endurance (timed test)
大体时间：2 years
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Evaluation of gait endurance using 6-minute walk test (6MWT) and 10-m walking test (10mWT).
|
2 years
|
|
Evaluation of exertion and dyspnea (timed test)
大体时间：2 years
|
Evaluation of exertion and dyspnea using 30-second sit-to-stand test (30STS).
|
2 years
|
|
Evaluation of TUG test performance
大体时间：2 years
|
Evaluation of performance at time-up-and-go test (TUG).
|
2 years
|
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Motor Function assessment
大体时间：2 years
|
Evaluation of motor function abilities using quantitative Motor Function Measurement (MFM) scale.
|
2 years
|
|
Muscle strength evaluation
大体时间：2 years
|
Strength evaluation of knee extension/flexion, dorsiflexion/plantarflexion of ankle, hand grip and fingers' pinch strength using dedicated MyoTools.
|
2 years
|
|
Evaluation of quality of life
大体时间：2 years
|
Evaluation of The "Quality of Life in genetic Neuromuscular Disease" questionnaire (QoL-gNMD).
|
2 years
|
|
Health assessment
大体时间：2 years
|
Health assessment using the Health Assessment Questionnaire (HAQ).
|
2 years
|
|
Assessment of individual's activity level
大体时间：2 years
|
Assessment of individual's activity level using Ricci et Gagnon Questionnaire.
|
2 years
|
其他结果措施
结果测量 |
措施说明 |
大体时间 |
|---|---|---|
|
Blood analysis
大体时间：2 years
|
Evaluation of blood biological parameters.
|
2 years
|
|
Echocardiography
大体时间：2 years
|
Evaluation of left-ventricular ejection fraction (in %).
|
2 years
|
|
Pulmonary function
大体时间：2 years
|
Evaluation of Pulmonary Function using Forced Vital Capacity measurement.
|
2 years
|
合作者和调查者
在这里您可以找到参与这项研究的人员和组织。
研究记录日期
这些日期跟踪向 ClinicalTrials.gov 提交研究记录和摘要结果的进度。研究记录和报告的结果由国家医学图书馆 (NLM) 审查，以确保它们在发布到公共网站之前符合特定的质量控制标准。
研究主要日期
学习开始 (估计的)
2026年9月15日
初级完成 (估计的)
2029年12月31日
研究完成 (估计的)
2029年12月31日
研究注册日期
首次提交
2026年7月7日
首先提交符合 QC 标准的
2026年7月28日
首次发布 (实际的)
2026年7月31日
研究记录更新
最后更新发布 (实际的)
2026年7月31日
上次提交的符合 QC 标准的更新
2026年7月28日
最后验证
2026年7月1日
更多信息
此信息直接从 clinicaltrials.gov 网站检索，没有任何更改。如果您有任何更改、删除或更新研究详细信息的请求，请联系 register@clinicaltrials.gov. clinicaltrials.gov 上实施更改，我们的网站上也会自动更新.