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

Status

Not yet recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07740057

Acronym

MyoBrain-BMD

Enrollment

Registered

2026-07-31

Start date

2026-09-15

Completion date

2029-12-31

Last updated

2026-07-31

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Becker Muscular Dystrophy

Keywords

Becker, MNR, Brain, Muscle, Neuropsycology, Natural history

Brief summary

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

MALE

Age

18 Years to 50 Years

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame	Description
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.

Secondary

Measure	Time frame	Description
Evaluation of muscle disease progression	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).
Evaluation of muscle disease activity (edema, inflammation, ...)	2 years	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	2 years	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.	2 years	Evaluation of energy metabolism using qMRI and 31P magnetic resonance spectroscopy.
Evaluation of intramuscular pH.	2 years	Evaluation of intramuscular pH using qMRI and 31P magnetic resonance spectroscopy.
Evaluation of gait endurance (timed test)	2 years	Evaluation of gait endurance using 6-minute walk test (6MWT) and 10-m walking test (10mWT).
Evaluation of exertion and dyspnea (timed test)	2 years	Evaluation of exertion and dyspnea using 30-second sit-to-stand test (30STS).
Evaluation of TUG test performance	2 years	Evaluation of performance at time-up-and-go test (TUG).
Motor Function assessment	2 years	Evaluation of motor function abilities using quantitative Motor Function Measurement (MFM) scale.
Muscle strength evaluation	2 years	Strength evaluation of knee extension/flexion, dorsiflexion/plantarflexion of ankle, hand grip and fingers' pinch strength using dedicated MyoTools.
Evaluation of quality of life	2 years	Evaluation of The "Quality of Life in genetic Neuromuscular Disease" questionnaire (QoL-gNMD).
Health assessment	2 years	Health assessment using the Health Assessment Questionnaire (HAQ).
Assessment of individual's activity level	2 years	Assessment of individual's activity level using Ricci et Gagnon Questionnaire.

Countries

France

Contacts

CONTACTHarmen REYNGOUDT, PhD

h.reyngoudt@institut-myologie.org01 42 16 58 91

Outcome results