Becker muscular dystrofie / BMD
Conditions
Interventions
None listed
Sponsors
Leids Universitair Medisch Centrum
Eligibility
Age
2 Years to 64 Years
Inclusion criteria
Inclusion criteria: BMD cohort: In order to be eligible to participate in the BMD cohort of this study, a subject must meet all of the following criteria: • Male • Confirmation of diagnosis of BMD by DNA analysis • Age =5 years In order to be eligible to partake in the muscle biopsy part of this study, the following additional inclusion criteria apply: • Age = 18 yearsHealthy controls: In order to be eligible to participate as a healthy control in this study, a subject must meet all of the following criteria: • Male • Age =5 years In order to be eligible to partake in the muscle biopsy part of this study, the following additional inclusion criteria apply: • Age = 18 years Trial participants In order to be eligible to participate in the trial cohort of this study, a subject must meet all of the following criteria: • Male • Confirmation of diagnosis of BMD by DNA analysis • Age =18 years • Inclusion in the phase II study of EDG-5506 in BMD (P22-064)
Exclusion criteria
Exclusion criteria: Patients will not undergo MRI or muscle biopsy if they have contraindication for the MRI (such as a metal implant) or muscle biopsy (such as use of anticoagulation) respectively.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The main study endpoint is a model to predict the disease course of individual BMD patients based on the following parameters: clinical parameters (e.g. loss of ambulation), functional parameters (e.g. North Star Ambulatory assessment, strength measures), pulmonary parameters (e.g. forced vital capacity), cardiac parameters (e.g. left ventricular ejection fraction), muscle MRI characteristics (e.g. fat fraction) and biomarkers in serum (e.g. creatine/creatinine ratio). | — |
Secondary
| Measure | Time frame |
|---|---|
| Main clinical parameters at each time point: - Weight (kg) - Height (meters) - Blood pressure (mmHg) - Heart rate (beats/min) - Ulna length (cm) - ACTIVLIM and the PROM upper limb DMD - Loss of ambulation (date, whenever applicable) - Other clinical endpoints (first symptoms, diagnosis, use of walking aids, occasional use of wheelchair, loss of function arm to mouth, start use of respiratory support, cardiomyopathy, start use of cardiac support; date, whenever applicable) Main pulmonary parameters at each time point: - Forced Vital Capacity (FVC) in percentage - Forced Expiratory Volume in 1 second (FEV1) in percentage - Peak Cough Flow (PCF) in percentage Main functional parameters at each time point: - North Star Ambulatory Assessment (NSAA) in points - Timed tests (6 minute walk test (meters), 10 meter run test (seconds), time to rise from floor (seconds), time to climb 4 stairs (seconds), time to descend 4 stairs (seconds)) - Performance of the Upper Limb (PUL) 2.0 in points. - Pinch strength (kg), grip strength (kg) measured using Myopinch and MyoGrip. - Strength (kg) of at minimum: both flexion and extension of knee hip and elbow Main cardiac parameters at each time point: - Left ventricular (LV) ejection fraction (LVEF) in percentage - Left ventricular end diastolic volume (LVEDV) in ml - Left ventricular end systolic volume (LVESV) in ml - Left ventricular global longitudinal strain (LVGLS) in percentage Main qMRI characteristics at each time point - Multiple MRI parameters including muscle volume, fat fraction and DTI parameters. Main parameters of muscle biopsy: - Fibre size and other structural parameters - Dystrophin quantification | — |
Countries
Netherlands
Contacts
Public ContactC.M.H.M. Moore
Leids Universitair Medisch Centrum
Outcome results
None listed