Beta-oxidation disturbance
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
12 Years to 99 Years
Inclusion criteria
Inclusion criteria: Patients with VLCADD - diagnosis confirmed by enzyme assay and mutation analysis - between 12 and 45 years Healthy controls: - between 12 and 45 years - free from constraints in performing a maximal exercise test
Exclusion criteria
Exclusion criteria: Patients with VLCADD: - ineligible to perform an exercise test - pregnancy - myopathic exacerbation at time of investigation - with severe complications due to cardiomyopathy/arrythmia - with severe complications due to epilepsia - not familiar with the Dutch language - presence of contra-indications for 31P/1H MRS measurements (assessed by standardised questionnaire as previously used in METC 08-267/K; see section F METC documents) Healthy controls: - ineligible to perform an exercise test (assessed by a standardised questionnaire as previously used in METC 10-468) - not familiar with the Dutch language - presence of contra-indications for 31P/1H MRS measurements (assessed by a standardised questionnaire as previously used in METC 08-267/K)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| o Blood parameters: glucose, lactaat, creatine kinase (CK) o Resting, and FATMAX exercise phoscreatine (PCr) o Resting, and FATMAX Inorganic phosphorus (Pi) o Resting, and FATMAX pH o Resting and FATMAX phosphate potential (delta GP) o Resting, and FATMAX hexose monophosphates (HMP) o Resting, and FATMAX IMCL content o Stroke volume o Urine: myoglobine | — |
Secondary
| Measure | Time frame |
|---|---|
| o Peak workload (Wpeak) o Resting and peak oxygen uptake (VO2peak/kg (ml/min/kg) ) o Resting and peak minute ventilation (VEpeak) (L/min) o Resting and peak respiratory exchange ratio (RER = VCO2/VO2) o Resting and peak heart rate (HR; bpm) | — |
Countries
Netherlands
Outcome results
None listed