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.
Genetically confirmed diagnosis of Becker muscular dystrophy
Ambulant
Signed ICF
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
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.
Cohort
Prospective
Not listed
Brain volume
Measurement of grey and white matter volume (in mm3) using brain MRI sequences.
Brain cortical thickness
Measurement of cortical thickness (in mm) using brain MRI sequences.
Brain water motion
Measurement of diffusion-based values, including apparent diffusion coefficient (in m2/s) and fractional anisotropy (unitless) using diffusion-weighted MRI sequences.
Brain iron metabolism
Measurement of brain iron metabolism using MRI-based quantitative susceptibility mapping (measured in parts per million).
Evaluation of muscle disease progression
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).
Evaluation of muscle disease activity (edema, inflammation, ...)
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).
Evaluation of muscle extracellular volume
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).
Evaluation of energy metabolism.
Evaluation of energy metabolism using qMRI and 31P magnetic resonance spectroscopy.
Blood analysis
Evaluation of blood biological parameters.
Echocardiography
Evaluation of left-ventricular ejection fraction (in %).
Pulmonary function
Evaluation of Pulmonary Function using Forced Vital Capacity measurement.
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Institut de Myologie, France
Lead sponsor
Paris Brain Institute (ICM)
Collaborator
Université Paris Cité
Collaborator
Association Française contre les Myopathies (AFM), Paris
Collaborator
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