Duchenne disease Duchenne Muscular Dystrophy
Conditions
Interventions
None listed
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: Healthy subjects: competent healthy male volunteers. Patients: - Patients with genetically proven Duchenne Muscular Dystrophy who are currently receiving care at Radboudumc. All participants: - Ability to participate and comply with requirements - If >16: willingness and ability to understand nature and content of the study - If 12-16: Parents and participant with willingness and ability to understand nature and content of the study. - If
Exclusion criteria
Exclusion criteria: Healthy volunteers: - Previous or ongoing neuromuscular disorders. - Previous or ongoing pulmonary deficiencies. - Smoking Patients: - Chronic lung, cardiac or liver disease - Additional diagnosed lung disease
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| • Respiratory muscle thickness: Thickness of the diaphragm, accessory inspiratory muscles and expiratory muscles will be examined with ultrasound • Diaphragm excursion: Excursion of the diaphragm will be assessed • Respiratory muscle echogenicity: quantitative muscle ultrasound (QMUS) will assess echogenicity of the diaphragm, accessory inspiratory muscles and expiratory muscles. | — |
Secondary
| Measure | Time frame |
|---|---|
| • All participants; Age, length, weight, medication. • Patients: Age at disease onset, age at diagnosis • Pulmonary function testing (PFT): forced vital capacity (FVC), Forced expiratory volume in one second (FEV1), maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP) and sniff nasal inspiratory pressure (SNIP). For patients, the PFT will be assessed by a pediatric rehabilitation doctor. For healthy participants, it will be assessed by a researcher. • Clinical history: A standardized clinical history will be assessed, including documentation of use of steroids and respiratory support, airway infections and degree of scoliosis. | — |
Countries
Netherlands