Multimodal Study About Absence of Dp140 in Becker Muscular Dystrophy: Brain-muscle Imaging, Cognition and Muscle Function

N/ANot Yet RecruitingNCT07740057

Institut de Myologie, France75 enrolled

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Becker Muscular Dystrophy

Eligibility

Sex: MALEMin age: 18 YearsMax age: 50 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Outcomes

Primary Outcomes

Brain volume

Measurement of grey and white matter volume (in mm3) using brain MRI sequences.

Time frame: 2 years

Brain cortical thickness

Measurement of cortical thickness (in mm) using brain MRI sequences.

Time frame: 2 years

Brain water motion

Measurement of diffusion-based values, including apparent diffusion coefficient (in m2/s) and fractional anisotropy (unitless) using diffusion-weighted MRI sequences.

Time frame: 2 years

Brain iron metabolism

Measurement of brain iron metabolism using MRI-based quantitative susceptibility mapping (measured in parts per million).

Time frame: 2 years

Brain function: resting-state and following task

Measurement of resting-state brain function (default-mode-network) using functional MRI. Measurement of brain activation using fMRI following fronto-executive task (Stroop test).

Time frame: 2 years

Intelligence test

Evaluation of intelligence using Wechsler Scale of Intelligence (WAIS-4).

Time frame: 2 years

Psychological evaluation of depression

Psychological evaluation using Beck Depression Inventory-II (BDI-II).

Time frame: 2 years

Psychological evaluation of anxiety

Psychological evaluation using State-Trait Anxiety Inventory-2 (STAI-Y2).

Time frame: 2 years

Psychological evaluation of ADHD

Psychological evaluation using Connors Adult Rating Scale.

Time frame: 2 years

Neuropsychological evaluation of memory for attention and cognitive processing

Neuropsychological cognitive evaluation of memory for attention and cognitive processing using Free and Cued Selective Reminding Test (FCSRT).

Time frame: 2 years

Neuropsychological evaluation of visual memory and executive function

Neuropsychological cognitive evaluation of visual memory and executive function using Rey-Osterrieth Complex Figure Test (ROCF).

Time frame: 2 years

Neuropsychological evaluation of visual attention and task switching

Neuropsychological cognitive evaluation of visual attention and task switching using Trail Making Test.

Time frame: 2 years

Neuropsychological evaluation of inhibition

Neuropsychological cognitive evaluation of inhibition using Stroop Color and Word Test.

Time frame: 2 years

Neuropsychological evaluation of verbal functioning

Neuropsychological cognitive evaluation of verbal functioning using Phonemic verbal fluency test.

Time frame: 2 years

Neuropsychological evaluation of facial expressions.

Neuropsychological cognitive evaluation of facial expressions using Pictures of Facial Affect test.

Time frame: 2 years

Neuropsychological evaluation of empathy

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.

Time frame: 2 years

Secondary Outcomes

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).

Time frame: 2 years

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).

Time frame: 2 years

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).

Time frame: 2 years

Evaluation of energy metabolism.

Evaluation of energy metabolism using qMRI and 31P magnetic resonance spectroscopy.

Time frame: 2 years

Evaluation of intramuscular pH.

Evaluation of intramuscular pH using qMRI and 31P magnetic resonance spectroscopy.

Time frame: 2 years

Evaluation of gait endurance (timed test)

Evaluation of gait endurance using 6-minute walk test (6MWT) and 10-m walking test (10mWT).

Time frame: 2 years

Evaluation of exertion and dyspnea (timed test)

Evaluation of exertion and dyspnea using 30-second sit-to-stand test (30STS).

Time frame: 2 years

Evaluation of TUG test performance

Evaluation of performance at time-up-and-go test (TUG).

Multimodal Study About Absence of Dp140 in Becker Muscular Dystrophy: Brain-muscle Imaging, Cognition and Muscle Function

Overview

Conditions

Eligibility

Locations (1)

Outcomes

Primary Outcomes

Secondary Outcomes

Central Contacts