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NCT Number: NCT07740057

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

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.

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Key information

Conditions

Becker Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Duchenne Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases

Age range

18 year–50 year

Sex eligibility

Male

Study type

Observational

Primary location

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Brain volume

    Time frame: 2 years

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

  2. Brain cortical thickness

    Time frame: 2 years

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

  3. Brain water motion

    Time frame: 2 years

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

  4. Brain iron metabolism

    Time frame: 2 years

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

  5. Brain function: resting-state and following task

    Time frame: 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).

  6. Intelligence test

    Time frame: 2 years

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

  7. Psychological evaluation of depression

    Time frame: 2 years

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

  8. Psychological evaluation of anxiety

    Time frame: 2 years

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

  9. Psychological evaluation of ADHD

    Time frame: 2 years

    Psychological evaluation using Connors Adult Rating Scale.

  10. Neuropsychological evaluation of memory for attention and cognitive processing

    Time frame: 2 years

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

  11. Neuropsychological evaluation of visual memory and executive function

    Time frame: 2 years

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

  12. Neuropsychological evaluation of visual attention and task switching

    Time frame: 2 years

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

  13. Neuropsychological evaluation of inhibition

    Time frame: 2 years

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

  14. Neuropsychological evaluation of verbal functioning

    Time frame: 2 years

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

  15. Neuropsychological evaluation of facial expressions.

    Time frame: 2 years

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

  16. Neuropsychological evaluation of empathy

    Time frame: 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 outcomes

  1. Evaluation of muscle disease progression

    Time frame: 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).

  2. Evaluation of muscle disease activity (edema, inflammation, ...)

    Time frame: 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).

  3. Evaluation of muscle extracellular volume

    Time frame: 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).

  4. Evaluation of energy metabolism.

    Time frame: 2 years

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

  5. Evaluation of intramuscular pH.

    Time frame: 2 years

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

  6. Evaluation of gait endurance (timed test)

    Time frame: 2 years

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

  7. Evaluation of exertion and dyspnea (timed test)

    Time frame: 2 years

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

  8. Evaluation of TUG test performance

    Time frame: 2 years

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

  9. Motor Function assessment

    Time frame: 2 years

    Evaluation of motor function abilities using quantitative Motor Function Measurement (MFM) scale.

  10. Muscle strength evaluation

    Time frame: 2 years

    Strength evaluation of knee extension/flexion, dorsiflexion/plantarflexion of ankle, hand grip and fingers' pinch strength using dedicated MyoTools.

  11. Evaluation of quality of life

    Time frame: 2 years

    Evaluation of The "Quality of Life in genetic Neuromuscular Disease" questionnaire (QoL-gNMD).

  12. Health assessment

    Time frame: 2 years

    Health assessment using the Health Assessment Questionnaire (HAQ).

  13. Assessment of individual's activity level

    Time frame: 2 years

    Assessment of individual's activity level using Ricci et Gagnon Questionnaire.

Other outcomes

  1. Blood analysis

    Time frame: 2 years

    Evaluation of blood biological parameters.

  2. Echocardiography

    Time frame: 2 years

    Evaluation of left-ventricular ejection fraction (in %).

  3. Pulmonary function

    Time frame: 2 years

    Evaluation of Pulmonary Function using Forced Vital Capacity measurement.

Study contacts

Contact information is provided by the study sponsor or research team.

Harmen REYNGOUDT, PhD

CONTACT

[email protected]

01 42 16 58 91

Sponsors and collaborators

Lead sponsor

Institut de Myologie, France

Other

Collaborators

  • Association Française contre les Myopathies (AFM), Paris
  • Paris Brain Institute (ICM)
  • Université Paris Cité

Registry information

Acronym: MyoBrain-BMD

Important dates

Study start
2026
Primary completion
2029
Study completion
2029
First posted
Jul 31, 2026
Registry last updated
Jul 31, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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