40
Participants
Start Date
December 5, 2024
Primary Completion Date
December 4, 2027
Study Completion Date
December 31, 2027
Motor evaluations
Evaluation of patients motor function using motor scales (MFM32, RULM), Timed functioned tests (6MWT, Rise from floor, 4SCT, 10mWT), dynamometric strength evaluation (grip, pinch, flexion/extension)
Cognitive assessment
Patients cognitive evaluation (WPPSI-IV, WISC-V)
Pulmonary function test
Evaluation of patients' respiratory function (FVC, PCF, MIP, MEP, SNIP)
Cardiac evaluation
Evaluation of patients' cardiac function (ECG, Echo-cardiography)
Quality of life
Evaluation of patients quality of life with questionnaires and PROM
Spine X Ray
Evaluation of spinal deformities by X-ray
Muscular MRI
Evaluation of a qualitative whole-body muscle part and a quantitative lower limb muscle part by MRI
Biomarkers collection and analysis
Collection of blood and urinary sample for biomarkers research.
NOT_YET_RECRUITING
Centre de Référence GNMH, Pédiatrie Hôpital Raymond-Poincaré, Garches
NOT_YET_RECRUITING
Service de MPR pédiatrique L'Escale - HCL, Lyon
NOT_YET_RECRUITING
Département de neuropédiatrie Pôle Femme Mère Enfant CHU de Montpellier - Hôpital Gui de Chauliac, Montpellier
RECRUITING
Plateforme d'essais cliniques pédiatriques iMotion, Paris
Association Française contre les Myopathies (AFM), Paris
OTHER
Institut de Myologie, France
OTHER