Congenital myopathy in Southern Africa
Not Applicable
Recruiting
- Conditions
- Musculoskeletal Diseases
- Registration Number
- PACTR202103700536808
- Lead Sponsor
- niversity College London
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 12
Inclusion Criteria
Children between the ages of 0-18 years
Molecular diagnosis of centronuclear myopathy
Evidence of decremental activity of greater than 10% on repetitive nerve stimulation testing
Exclusion Criteria
Absence of a genetically confirmed diagnosis of centronuclear myopathy
Absence of decremental activity on repetitive nerve stimulation testing
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Response to the medication in terms of muscle strength, as graded by Medical Research Council (MRC) scale, distance covered in the 6 minute walk test (6MWT) for ambulant patients and the impact of drug trial on activities of daily living (ADL’s).
- Secondary Outcome Measures
Name Time Method The number of admissions to hospital.