Phase 1: Assess reliability of advanced respiratory muscle ultrasound imaging in healthy subjects and congenital myopathies/muscular dystrophies. Phase 2: assess two year follow-up of respiratory function using advanced respiratory muscle ultrasound…
ID
Source
Brief title
Condition
- Muscle disorders
- Neuromuscular disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Phase 1: inter-rater, intra-rater and test-retest reliability in healthy
subjects and patients of advanced respiratory muscle ultrasound outcomes.
Phase 2: two year follow-up of respiratory function using advanced respiratory
muscle ultrasound in congenital myopathies/muscular dystrophies.
Secondary outcome
phase 1: validity in advanced respiratory muscle ultraound in healthy subjects
phase 2: differences between patients and healthy subjects with advanced
respiratory muscle ultrasound
Background summary
respiratory muscle weakness is a cardinal feature in many neuromuscular
disorders, including congenital myopathies and congenital muscular dystrophies.
Evaluating respiratory function is of vital importance to identify early signs
of respiratory insufficiency, to monitor disease progression, and above all to
guide respiratory management. However, reliable tools that specifically and
noninvasively measure respiratory muscle function are lacking. In the last
decade, ultrasound emerged as a research tool to noninvasively evaluate
respiratory muscle function in patients with a neuromuscular disorders.
However, it comes with limitations, such as poor clinical reliability and
limited reflection of respiratory muscle function. New, advanced techniques
have been developed to address these shortcomings, but have to be evaluated
first.
Study objective
Phase 1: Assess reliability of advanced respiratory muscle ultrasound imaging
in healthy subjects and congenital myopathies/muscular dystrophies.
Phase 2: assess two year follow-up of respiratory function using advanced
respiratory muscle ultrasound imaging in congenital myopathies/muscular
dystrophies.
Study design
Prospective cohort study, consisting of two phases. During phase 1, reliability
of advanced respiratory muscle ultrasound will be evaluated in healthy subjects
and patients. Additionally, validity will be assessed in healthy subjects.
During phase 2, progression of respiratory muscle weakness in patients is
evaluated, in relation to skeletal muscle weakness.
Study burden and risks
the risk of this study for the participants is negligible. Subjects do not
directly benefit from participating in this study. The scientific benefit of
this study is the availability of reliable and valid ultrasound measurements of
the respiratory muscles along with their associated normative values and
differences in disease. This can be used in subsequent research, such as
drug-evaluating trials, to act as outcome parameters. Furthermore, in future
clinical practice, these measurements may be used to aid diagnosis and
management of respiratory muscle weakness. Respiratory functions tests may be
experienced as mildly unpleasant, and the invasive procedure of placing a
nasogastric tube, only in adult healthy subjects, may be experienced as
discomfortable.
Reinier Postlaan 4
Nijmegen 6525 EX
NL
Reinier Postlaan 4
Nijmegen 6525 EX
NL
Listed location countries
Age
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).
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
In other registers
| Register | ID |
|---|---|
| CCMO | NL76526.091.21 |
| Other | NL9207 |
| OMON | NL-OMON23911 |