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)
Conditions
Interventions
None listed
Sponsors
Metakids
Eligibility
Inclusion criteria
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
Exclusion criteria: Severe cardiomyopathy endangering safe exercise. For other symptomatic patients, exercise tests will be adapted to individual safe possibilities.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| (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
| Measure | Time frame |
|---|---|
| - Reported muscle complaints, exercise tolerance, daily life activity levels, dietary regimen and metabolic exacerbations due to uncontrolled excessive exercise - Quality of life (measured with the Pediatric Quality of Life Inventory (PEDSQL)) | — |
Contacts
Public ContactMarit Schwantje
Wilhelmina Children's Hospital / Universitair Medisch Centrum Utrecht
Outcome results
None listed