Advanced respiratory muscle ultrasound in health and congenital myopathy/muscular dystrophy

Conditions: Congenital myopathies and congenital muscular dystrophies

Registration Number: NL-OMON23911

Lead Sponsor: Radboudumc

Brief Summary: ot applicable

Detailed Description: Not available

Recruitment & Eligibility

Status: Pending

Sex: Not specified

Target Recruitment: 122

Inclusion Criteria

Informed consent from participant or legal representative
-Age:
oPhase 1: age between 18 and 60 years
oPhase 2: age between 8 and 60 years
-Healthy subjects: competent volunteers
-Patients: genetically confirmed congenital myopathy or congenital muscular dystrophy
-Willingness and ability to understand nature and content of the study
-Ability to participate and comply with study requirements

Exclusion Criteria

-Medical history or current condition affecting respiratory muscle strength or function, other than a congenital myopathy or congenital muscular dystrophy (e.g. COPD).
-Active smoker
-Known upper airway / oesophageal pathology or anatomical variations of the upper airway (phase 1, healthy subjects only)
-Known bleeding disorders or frequent nasal bleeding (phase 1, healthy subjects only).

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Phase 1: inter-rater, intra-rater and test-retest reliability in healthy subjects and patients of the following measurements:<br>-End-expiratory thickness, end-inspiratory thickness and thickening ratio of all respiratory muscles during respiration<br>-Strain and strain rate of all respiratory muscles during respiration<br>-Echogenicity of all respiratory muscles during respiration<br>-Tissue stiffness expressed as Young’s modulus of all respiratory muscles during respiration<br>Phase 2: two year follow-up of respiratory function using advanced respiratory muscle ultrasound in congenital myopathies/muscular dystrophies<br>

Secondary Outcome Measures

Name	Time	Method
Phase 1: validity of advanced respiratory muscle ultrasound, as assessed by the correlation of all measurements to transdiaphragmatic pressure and surface EMG<br>Phase 2: differences between healthy subjects and patients of advanced respiratory muscle ultrasound<br>