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

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 Overview

• Status: Not yet recruiting
• Conditions: Becker Muscular Dystrophy

• Study Type: Observational
• Enrollment (Estimated): 75

Contacts and Locations

• Study Contact: Name: Harmen REYNGOUDT, PhD; Phone Number: 01 42 16 58 91; Email: h.reyngoudt@institut-myologie.org

Study Locations

• France
  • Paris, France, 75651
    • Institute of Mythology
    • Contact: Tanya STOJKOVIC, Md; Phone Number: 01 42 16 37 76; Email: t.stojkovic@institut-myologie.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

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.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort
Healthy subjects
BMD patients Dp140+; Dp140+
BMD patients Dp140-; Dp140-

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Brain volume	Measurement of grey and white matter volume (in mm3) using brain MRI sequences.	2 years
Brain cortical thickness	Measurement of cortical thickness (in mm) using brain MRI sequences.	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.	2 years
Brain iron metabolism	Measurement of brain iron metabolism using MRI-based quantitative susceptibility mapping (measured in parts per million).	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).	2 years
Intelligence test	Evaluation of intelligence using Wechsler Scale of Intelligence (WAIS-4).	2 years
Psychological evaluation of depression	Psychological evaluation using Beck Depression Inventory-II (BDI-II).	2 years
Psychological evaluation of anxiety	Psychological evaluation using State-Trait Anxiety Inventory-2 (STAI-Y2).	2 years
Psychological evaluation of ADHD	Psychological evaluation using Connors Adult Rating Scale.	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).	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).	2 years
Neuropsychological evaluation of visual attention and task switching	Neuropsychological cognitive evaluation of visual attention and task switching using Trail Making Test.	2 years
Neuropsychological evaluation of inhibition	Neuropsychological cognitive evaluation of inhibition using Stroop Color and Word Test.	2 years
Neuropsychological evaluation of verbal functioning	Neuropsychological cognitive evaluation of verbal functioning using Phonemic verbal fluency test.	2 years
Neuropsychological evaluation of facial expressions.	Neuropsychological cognitive evaluation of facial expressions using Pictures of Facial Affect test.	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.	2 years

Secondary Outcome Measures

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

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Blood analysis	Evaluation of blood biological parameters.	2 years
Echocardiography	Evaluation of left-ventricular ejection fraction (in %).	2 years
Pulmonary function	Evaluation of Pulmonary Function using Forced Vital Capacity measurement.	2 years

Collaborators and Investigators

• Sponsor: Institut de Myologie, France
• Collaborators: Association Française contre les Myopathies (AFM), Paris; Université Paris Cité; Paris Brain Institute (ICM)

Study record dates

Study Major Dates

• Study Start (Estimated): September 15, 2026
• Primary Completion (Estimated): December 31, 2029
• Study Completion (Estimated): December 31, 2029

Study Registration Dates

• First Submitted: July 7, 2026
• First Submitted That Met QC Criteria: July 28, 2026
• First Posted (Actual): July 31, 2026

Study Record Updates

• Last Update Posted (Actual): July 31, 2026
• Last Update Submitted That Met QC Criteria: July 28, 2026
• Last Verified: July 1, 2026

More Information

Terms related to this study

• Keywords: Brain; Natural history; Muscle; Becker; MNR; Neuropsycology
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Nervous System Diseases; Muscular Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Muscular Disorders, Atrophic; Muscular Dystrophies; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Muscular Dystrophy, Duchenne
• Other Study ID Numbers: 2026-A00317-44

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No