Multimodal Study About Absence of Dp140 in Becker Muscular Dystrophy: Brain-muscle Imaging, Cognition and Muscle Function
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Becker Muscular Dystrophy. Basic parameters: 18 years — 50 years · Male.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Primary outcome measures
- Brain volume [Time frame: 2 years]
- Brain cortical thickness [Time frame: 2 years]
- Brain water motion [Time frame: 2 years]
- Brain iron metabolism [Time frame: 2 years]
- Brain function: resting-state and following task [Time frame: 2 years]
- Intelligence test [Time frame: 2 years]
- Psychological evaluation of depression [Time frame: 2 years]
- Psychological evaluation of anxiety [Time frame: 2 years]
- Psychological evaluation of ADHD [Time frame: 2 years]
- Neuropsychological evaluation of memory for attention and cognitive processing [Time frame: 2 years]
Secondary outcome measures (12)
- Evaluation of muscle disease progression [Time frame: 2 years]
- Evaluation of muscle disease activity (edema, inflammation, ...) [Time frame: 2 years]
- Evaluation of muscle extracellular volume [Time frame: 2 years]
- Evaluation of energy metabolism. [Time frame: 2 years]
- Evaluation of intramuscular pH. [Time frame: 2 years]
- Evaluation of gait endurance (timed test) [Time frame: 2 years]
- Evaluation of exertion and dyspnea (timed test) [Time frame: 2 years]
- Evaluation of TUG test performance [Time frame: 2 years]
- Motor Function assessment [Time frame: 2 years]
- Muscle strength evaluation [Time frame: 2 years]
- Evaluation of quality of life [Time frame: 2 years]
- Health assessment [Time frame: 2 years]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
France · 1 center
- Institute of Mythology — Paris
Identifiers
NCT: NCT07740057 · 2026-A00317-44