Multimodal Study About Absence of Dp140 in Becker Muscular Dystrophy: Brain-muscle Imaging, Cognition and Muscle Function (MyoBrain-BMD)
28 juli 2026 uppdaterad av: Institut de Myologie, France
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.
Studieöversikt
Status
Har inte rekryterat ännu
Betingelser
Studietyp
Observationell
Inskrivning (Beräknad)
75
Kontakter och platser
Det här avsnittet innehåller kontaktuppgifter för dem som genomför studien och information om var denna studie genomförs.
Studiekontakt
- Namn: Harmen REYNGOUDT, PhD
- Telefonnummer: 01 42 16 58 91
- E-post: h.reyngoudt@institut-myologie.org
Studieorter
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Paris, Frankrike, 75651
- Institute of Mythology
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Kontakt:
- Tanya STOJKOVIC, Md
- Telefonnummer: 01 42 16 37 76
- E-post: t.stojkovic@institut-myologie.org
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Deltagandekriterier
Forskare letar efter personer som passar en viss beskrivning, så kallade behörighetskriterier. Några exempel på dessa kriterier är en persons allmänna hälsotillstånd eller tidigare behandlingar.
Urvalskriterier
Åldrar som är berättigade till studier
- Vuxen
Tar emot friska volontärer
Ja
Testmetod
Icke-sannolikhetsprov
Studera befolkning
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.
Beskrivning
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
Studieplan
Det här avsnittet ger detaljer om studieplanen, inklusive hur studien är utformad och vad studien mäter.
Hur är studien utformad?
Designdetaljer
Kohorter och interventioner
Grupp / Kohort |
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Friska ämnen
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BMD patients Dp140+
Dp140+
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BMD patients Dp140-
Dp140-
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Vad mäter studien?
Primära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
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Brain volume
Tidsram: 2 years
|
Measurement of grey and white matter volume (in mm3) using brain MRI sequences.
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2 years
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Brain cortical thickness
Tidsram: 2 years
|
Measurement of cortical thickness (in mm) using brain MRI sequences.
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2 years
|
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Brain water motion
Tidsram: 2 years
|
Measurement of diffusion-based values, including apparent diffusion coefficient (in m2/s) and fractional anisotropy (unitless) using diffusion-weighted MRI sequences.
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2 years
|
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Brain iron metabolism
Tidsram: 2 years
|
Measurement of brain iron metabolism using MRI-based quantitative susceptibility mapping (measured in parts per million).
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2 years
|
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Brain function: resting-state and following task
Tidsram: 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).
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2 years
|
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Intelligence test
Tidsram: 2 years
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Evaluation of intelligence using Wechsler Scale of Intelligence (WAIS-4).
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2 years
|
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Psychological evaluation of depression
Tidsram: 2 years
|
Psychological evaluation using Beck Depression Inventory-II (BDI-II).
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2 years
|
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Psychological evaluation of anxiety
Tidsram: 2 years
|
Psychological evaluation using State-Trait Anxiety Inventory-2 (STAI-Y2).
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2 years
|
|
Psychological evaluation of ADHD
Tidsram: 2 years
|
Psychological evaluation using Connors Adult Rating Scale.
|
2 years
|
|
Neuropsychological evaluation of memory for attention and cognitive processing
Tidsram: 2 years
|
Neuropsychological cognitive evaluation of memory for attention and cognitive processing using Free and Cued Selective Reminding Test (FCSRT).
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2 years
|
|
Neuropsychological evaluation of visual memory and executive function
Tidsram: 2 years
|
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
Tidsram: 2 years
|
Neuropsychological cognitive evaluation of visual attention and task switching using Trail Making Test.
|
2 years
|
|
Neuropsychological evaluation of inhibition
Tidsram: 2 years
|
Neuropsychological cognitive evaluation of inhibition using Stroop Color and Word Test.
|
2 years
|
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Neuropsychological evaluation of verbal functioning
Tidsram: 2 years
|
Neuropsychological cognitive evaluation of verbal functioning using Phonemic verbal fluency test.
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2 years
|
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Neuropsychological evaluation of facial expressions.
Tidsram: 2 years
|
Neuropsychological cognitive evaluation of facial expressions using Pictures of Facial Affect test.
|
2 years
|
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Neuropsychological evaluation of empathy
Tidsram: 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.
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2 years
|
Sekundära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
|
Evaluation of muscle disease progression
Tidsram: 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).
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2 years
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Evaluation of muscle disease activity (edema, inflammation, ...)
Tidsram: 2 years
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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).
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2 years
|
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Evaluation of muscle extracellular volume
Tidsram: 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).
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2 years
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Evaluation of energy metabolism.
Tidsram: 2 years
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Evaluation of energy metabolism using qMRI and 31P magnetic resonance spectroscopy.
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2 years
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Evaluation of intramuscular pH.
Tidsram: 2 years
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Evaluation of intramuscular pH using qMRI and 31P magnetic resonance spectroscopy.
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2 years
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Evaluation of gait endurance (timed test)
Tidsram: 2 years
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Evaluation of gait endurance using 6-minute walk test (6MWT) and 10-m walking test (10mWT).
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2 years
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Evaluation of exertion and dyspnea (timed test)
Tidsram: 2 years
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Evaluation of exertion and dyspnea using 30-second sit-to-stand test (30STS).
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2 years
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Evaluation of TUG test performance
Tidsram: 2 years
|
Evaluation of performance at time-up-and-go test (TUG).
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2 years
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Motor Function assessment
Tidsram: 2 years
|
Evaluation of motor function abilities using quantitative Motor Function Measurement (MFM) scale.
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2 years
|
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Muscle strength evaluation
Tidsram: 2 years
|
Strength evaluation of knee extension/flexion, dorsiflexion/plantarflexion of ankle, hand grip and fingers' pinch strength using dedicated MyoTools.
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2 years
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Evaluation of quality of life
Tidsram: 2 years
|
Evaluation of The "Quality of Life in genetic Neuromuscular Disease" questionnaire (QoL-gNMD).
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2 years
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Health assessment
Tidsram: 2 years
|
Health assessment using the Health Assessment Questionnaire (HAQ).
|
2 years
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Assessment of individual's activity level
Tidsram: 2 years
|
Assessment of individual's activity level using Ricci et Gagnon Questionnaire.
|
2 years
|
Andra resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
|
Blood analysis
Tidsram: 2 years
|
Evaluation of blood biological parameters.
|
2 years
|
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Echocardiography
Tidsram: 2 years
|
Evaluation of left-ventricular ejection fraction (in %).
|
2 years
|
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Pulmonary function
Tidsram: 2 years
|
Evaluation of Pulmonary Function using Forced Vital Capacity measurement.
|
2 years
|
Samarbetspartners och utredare
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Studieavstämningsdatum
Dessa datum spårar framstegen för inlämningar av studieposter och sammanfattande resultat till ClinicalTrials.gov. Studieposter och rapporterade resultat granskas av National Library of Medicine (NLM) för att säkerställa att de uppfyller specifika kvalitetskontrollstandarder innan de publiceras på den offentliga webbplatsen.
Studera stora datum
Studiestart (Beräknad)
15 september 2026
Primärt slutförande (Beräknad)
31 december 2029
Avslutad studie (Beräknad)
31 december 2029
Studieregistreringsdatum
Först inskickad
7 juli 2026
Först inskickad som uppfyllde QC-kriterierna
28 juli 2026
Första postat (Faktisk)
31 juli 2026
Uppdateringar av studier
Senaste uppdatering publicerad (Faktisk)
31 juli 2026
Senaste inskickade uppdateringen som uppfyllde QC-kriterierna
28 juli 2026
Senast verifierad
1 juli 2026
Mer information
Termer relaterade till denna studie
Nyckelord
Ytterligare relevanta MeSH-villkor
Andra studie-ID-nummer
- 2026-A00317-44
Plan för individuella deltagardata (IPD)
Planerar du att dela individuella deltagardata (IPD)?
NEJ
Läkemedels- och apparatinformation, studiedokument
Studerar en amerikansk FDA-reglerad läkemedelsprodukt
Nej
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Nej
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