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.
Eligibility
Sex
MALE
Min age
18 Years
Max age
50 Years
Healthy volunteers
Accepted
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
Primary outcome measure(s)
Brain volume — 2 years Measurement of grey and white matter volume (in mm3) using brain MRI sequences.
Brain cortical thickness — 2 years Measurement of cortical thickness (in mm) using brain MRI sequences.
Brain water motion — 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 — 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 — 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 — 2 years Evaluation of intelligence using Wechsler Scale of Intelligence (WAIS-4).
Psychological evaluation of depression — 2 years Psychological evaluation using Beck Depression Inventory-II (BDI-II).
Psychological evaluation of anxiety — 2 years Psychological evaluation using State-Trait Anxiety Inventory-2 (STAI-Y2).
Psychological evaluation of ADHD — 2 years Psychological evaluation using Connors Adult Rating Scale.
Neuropsychological evaluation of memory for attention and cognitive processing — 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 — 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 — 2 years Neuropsychological cognitive evaluation of visual attention and task switching using Trail Making Test.
Neuropsychological evaluation of inhibition — 2 years Neuropsychological cognitive evaluation of inhibition using Stroop Color and Word Test.
Neuropsychological evaluation of verbal functioning — 2 years Neuropsychological cognitive evaluation of verbal functioning using Phonemic verbal fluency test.
Neuropsychological evaluation of facial expressions. — 2 years Neuropsychological cognitive evaluation of facial expressions using Pictures of Facial Affect test.
Neuropsychological evaluation of empathy — 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.
Trial sites (1)
Facility
City
Region
Status
Institute of Mythology
Paris
France
More Institut de Myologie, France trials in France
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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