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

NCT07740057 | Not Yet Recruiting

• 1 other identifier: 2026-A00317-44
• Study Type: observational
• Target: 75
• Locations: 1 country
• Sites: 1

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.

Conditions

Becker Muscular Dystrophy

Keywords

Becker; MNR; Brain; Muscle; Neuropsycology; Natural history

Outcome Measures

Primary Outcomes (16)

• 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 Outcomes (13)

• Evaluation of muscle disease progression

  2 years

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

  2 years

• Evaluation of muscle extracellular volume

  2 years

• Evaluation of energy metabolism.

  2 years

• Evaluation of intramuscular pH.

  2 years

Other Outcomes (3)

• Blood analysis

  2 years

• Echocardiography

  2 years

• Pulmonary function

  2 years

Study Arms (3)

BMD patients Dp140+

Dp140+

BMD patients Dp140-

Dp140-

Healthy subjects

Eligibility Criteria

• Age: 18 Years - 50 Years
• Sex: male
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• 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.

You may qualify if:

• Genetically confirmed diagnosis of Becker muscular dystrophy
• Ambulant
• Signed ICF

You may not qualify if:

• 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

Sponsors & Collaborators

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

Study Sites (1)

Institute of Mythology

Paris, 75651, France

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

Blood, urine and RNA samples

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Condition Hierarchy (Ancestors)

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

Central Study Contacts

Harmen REYNGOUDT, PhD

CONTACT

01 42 16 58 91; h.reyngoudt@institut-myologie.org

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 7, 2026
• First Posted: July 31, 2026
• Study Start (Estimated): September 15, 2026
• Primary Completion (Estimated): December 31, 2029
• Study Completion (Estimated): December 31, 2029
• Last Updated: July 31, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)