Advanced respiratory muscle ultrasound in patients with a congenital myopathy/muscular dystrophy

Recruiting

Conditions: congenital muscle disorders
congenital myopathies/muscular dystrophies
10028302
10029317

Registration Number: NL-OMON51064

Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 122

Inclusion Criteria

- Age:
o Phase 1: age between 18 and 60 years
o Phase 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 invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Phase 1: inter-rater, intra-rater and test-retest reliability in healthy<br /><br>subjects and patients of advanced respiratory muscle ultrasound outcomes.<br /><br>Phase 2: two year follow-up of respiratory function using advanced respiratory<br /><br>muscle ultrasound in congenital myopathies/muscular dystrophies.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>phase 1: validity in advanced respiratory muscle ultraound in healthy subjects<br /><br>phase 2: differences between patients and healthy subjects with advanced<br /><br>respiratory muscle ultrasound</p><br>