Multimodal Study About Absence of Dp140 in Becker Muscular Dystrophy: Brain-muscle Imaging, Cognition and Muscle Function (MyoBrain-BMD)
28. juli 2026 oppdatert 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.
Studieoversikt
Status
Har ikke rekruttert ennå
Forhold
Studietype
Observasjonsmessig
Registrering (Antatt)
75
Kontakter og plasseringer
Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.
Studiekontakt
- Navn: Harmen REYNGOUDT, PhD
- Telefonnummer: 01 42 16 58 91
- E-post: h.reyngoudt@institut-myologie.org
Studiesteder
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Paris, Frankrike, 75651
- Institute of Mythology
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Ta kontakt med:
- Tanya STOJKOVIC, Md
- Telefonnummer: 01 42 16 37 76
- E-post: t.stojkovic@institut-myologie.org
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Deltakelseskriterier
Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.
Kvalifikasjonskriterier
Alder som er kvalifisert for studier
- Voksen
Tar imot friske frivillige
Ja
Prøvetakingsmetode
Ikke-sannsynlighetsprøve
Studiepopulasjon
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.
Beskrivelse
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
Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.
Hvordan er studiet utformet?
Designdetaljer
Kohorter og intervensjoner
Gruppe / Kohort |
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Sunne fag
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BMD patients Dp140+
Dp140+
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BMD patients Dp140-
Dp140-
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Hva måler studien?
Primære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
|
Brain volume
Tidsramme: 2 years
|
Measurement of grey and white matter volume (in mm3) using brain MRI sequences.
|
2 years
|
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Brain cortical thickness
Tidsramme: 2 years
|
Measurement of cortical thickness (in mm) using brain MRI sequences.
|
2 years
|
|
Brain water motion
Tidsramme: 2 years
|
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
Tidsramme: 2 years
|
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
Tidsramme: 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
Tidsramme: 2 years
|
Evaluation of intelligence using Wechsler Scale of Intelligence (WAIS-4).
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2 years
|
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Psychological evaluation of depression
Tidsramme: 2 years
|
Psychological evaluation using Beck Depression Inventory-II (BDI-II).
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2 years
|
|
Psychological evaluation of anxiety
Tidsramme: 2 years
|
Psychological evaluation using State-Trait Anxiety Inventory-2 (STAI-Y2).
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2 years
|
|
Psychological evaluation of ADHD
Tidsramme: 2 years
|
Psychological evaluation using Connors Adult Rating Scale.
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2 years
|
|
Neuropsychological evaluation of memory for attention and cognitive processing
Tidsramme: 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
Tidsramme: 2 years
|
Neuropsychological cognitive evaluation of visual memory and executive function using Rey-Osterrieth Complex Figure Test (ROCF).
|
2 years
|
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Neuropsychological evaluation of visual attention and task switching
Tidsramme: 2 years
|
Neuropsychological cognitive evaluation of visual attention and task switching using Trail Making Test.
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2 years
|
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Neuropsychological evaluation of inhibition
Tidsramme: 2 years
|
Neuropsychological cognitive evaluation of inhibition using Stroop Color and Word Test.
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2 years
|
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Neuropsychological evaluation of verbal functioning
Tidsramme: 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.
Tidsramme: 2 years
|
Neuropsychological cognitive evaluation of facial expressions using Pictures of Facial Affect test.
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2 years
|
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Neuropsychological evaluation of empathy
Tidsramme: 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
|
Sekundære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
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Evaluation of muscle disease progression
Tidsramme: 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 years
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Evaluation of muscle disease activity (edema, inflammation, ...)
Tidsramme: 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).
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2 years
|
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Evaluation of muscle extracellular volume
Tidsramme: 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.
Tidsramme: 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.
Tidsramme: 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)
Tidsramme: 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)
Tidsramme: 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
Tidsramme: 2 years
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Evaluation of performance at time-up-and-go test (TUG).
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2 years
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Motor Function assessment
Tidsramme: 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
Tidsramme: 2 years
|
Strength evaluation of knee extension/flexion, dorsiflexion/plantarflexion of ankle, hand grip and fingers' pinch strength using dedicated MyoTools.
|
2 years
|
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Evaluation of quality of life
Tidsramme: 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
Tidsramme: 2 years
|
Health assessment using the Health Assessment Questionnaire (HAQ).
|
2 years
|
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Assessment of individual's activity level
Tidsramme: 2 years
|
Assessment of individual's activity level using Ricci et Gagnon Questionnaire.
|
2 years
|
Andre resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
|
Blood analysis
Tidsramme: 2 years
|
Evaluation of blood biological parameters.
|
2 years
|
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Echocardiography
Tidsramme: 2 years
|
Evaluation of left-ventricular ejection fraction (in %).
|
2 years
|
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Pulmonary function
Tidsramme: 2 years
|
Evaluation of Pulmonary Function using Forced Vital Capacity measurement.
|
2 years
|
Samarbeidspartnere og etterforskere
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Studierekorddatoer
Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.
Studer hoveddatoer
Studiestart (Antatt)
15. september 2026
Primær fullføring (Antatt)
31. desember 2029
Studiet fullført (Antatt)
31. desember 2029
Datoer for studieregistrering
Først innsendt
7. juli 2026
Først innsendt som oppfylte QC-kriteriene
28. juli 2026
Først lagt ut (Faktiske)
31. juli 2026
Oppdateringer av studieposter
Sist oppdatering lagt ut (Faktiske)
31. juli 2026
Siste oppdatering sendt inn som oppfylte QC-kriteriene
28. juli 2026
Sist bekreftet
1. juli 2026
Mer informasjon
Begreper knyttet til denne studien
Nøkkelord
Ytterligere relevante MeSH-vilkår
Andre studie-ID-numre
- 2026-A00317-44
Plan for individuelle deltakerdata (IPD)
Planlegger du å dele individuelle deltakerdata (IPD)?
NEI
Legemiddel- og utstyrsinformasjon, studiedokumenter
Studerer et amerikansk FDA-regulert medikamentprodukt
Nei
Studerer et amerikansk FDA-regulert enhetsprodukt
Nei
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