Every child should be able to exercise! (Dutch: Ieder kind moet kunnen sporten!)
Recruiting
- Conditions
- Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD), Carnitine Palmitoyl Transferase Type 2 Deficiency (CPT2D), Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD), General Mitochondrial Trifunctional Protein Deficiency (MTPD)
- Registration Number
- NL-OMON25784
- Lead Sponsor
- Metakids
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 25
Inclusion Criteria
Children (>10 years old) with an lcFAOD, as confirmed by DNA analysis, enzyme activity measurement in lymphocytes, and in most cases also by lcFAO-flux analysis in fibroblasts.
Exclusion Criteria
Severe cardiomyopathy endangering safe exercise.
For other symptomatic patients, exercise tests will be adapted to individual safe possibilities.
Study & Design
- Study Type
- Observational non invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method (The course of) exercise tolerance and myopathic symptoms based on the results of maximal and endurance exercise stress tests (muscle, pulmonary and cardiac function, and laboratory results (including CK, NT-proBNP, troponine, acylcarnitines) up until 24 hours after exercise)
- Secondary Outcome Measures
Name Time Method - Reported muscle complaints, exercise tolerance, daily life activity levels, dietary regimen and metabolic exacerbations due to uncontrolled excessive exercise <br>- Quality of life (measured with the Pediatric Quality of Life Inventory (PEDSQL))