Trial readiness and fitness for congenital myopathies: A 2-year prospective natural history study including a cross-sectional study on muscle fatigability
Recruiting
- Conditions
- 'Congenital myopathies' and 'inherited muscle disorders'1002929910029317
- Registration Number
- NL-OMON56064
- Lead Sponsor
- Radboud Universitair Medisch Centrum
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 100
Inclusion Criteria
Genetically-confirmed congenital myopathy (core myopathy, nemaline myopathy,
and centronuclear myopathy)
Exclusion Criteria
Other neuromuscular, psychiatric or neurological disorders
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>-Motor function measure<br /><br>-Endurance shuttle test</p><br>
- Secondary Outcome Measures
Name Time Method <p>-Manual muscle testing<br /><br>-Isometric dynamometry<br /><br>-Range of motion<br /><br>-Respiratory muscle function measured by spirometry<br /><br>-Graded and timed rise from floor<br /><br>-6 MWT<br /><br>-7-day accelerometry<br /><br>-Vignos and Brooke scale<br /><br>-Laboratory tests<br /><br>-Muscle ultrasound<br /><br>-Muscle MRI<br /><br>-DEXA scan<br /><br>-Questionnaires<br /><br>-Isokinetic dynamometry<br /><br>-Repetitive nerve stimulation</p><br>
Related Research Topics
Explore scientific publications, clinical data analysis, treatment approaches, and expert-compiled information related to the mechanisms and outcomes of this trial. Click any topic for comprehensive research insights.
What molecular pathways underlie muscle fatigability in congenital myopathies like central core disease and nemaline myopathy?
How do genetic mutations in RYR1 and NEB correlate with functional decline in congenital myopathy patients over 2 years?
Which biomarkers predict muscle fatigability severity in inherited muscle disorders such as congenital fiber type disproportion?
What adverse events are associated with exercise protocols in congenital myopathy natural history studies and how are they managed?
How do current therapeutic approaches for congenital myopathies compare to emerging gene therapy strategies in preclinical models?