lcfaod long-chain fatty acid oxidation disorder long-chain fatty acid oxidation disorder
Conditions
Interventions
None listed
Sponsors
Amsterdam UMC
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: LC-FAOD patients: - Men and women (age >=18 years) with a confirmed diagnosis of carnitine palmitoyltransferase 2 (CPT2) deficiency, Carnitine-acylcarnitine translocase (CACT) deficiency, Mitochondrial Trifunctional protein (MTP) deficiency, Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency or Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Healthy control subjects: - Healthy men and women age >= 18 years
Exclusion criteria
Exclusion criteria: -LcFAOD patients: - Pregnancy - Recent acute myocardial infarction (>6 months prior to inclusion) - Uncontrolled arrhythmia/severe conduction disorder causing hemodynamic compromise - Implantable pacemaker or other cardiac device with complete ventricular pacing - Uncontrolled heart failure with hemodynamic compromise - Uncontrolled hypertension (Systolic Blood Pressure >150 mmHg and Diastolic Blood Pressure > 100 mmHg on repeated measurements) - Active infection, anemia, severe renal dysfunction (estimated Glomerular filtration rate <30 ml/min/1,73m2), or other chronic disease likely to significantly impact exercise performance - History of severe asthma or chronic obstructive pulmonary disease - Active use of medication likely to affect exercise tolerance Healthy control subjects: - All abovementioned exclusion criteria for LcFOAD patients - History of smoking - History of asthma, chronic obstructive pulmonary disease, heart failure, heart surgery, heart rhythm disorders or congenital heart diseases - Chronic illness (including orthopedic, endocrinological, hematological, malignant, gastrointestinal, neurological, muscle or inflammatory disorders) likely to significantly impact on exercise performance - > 6 alcohol units per day or >14 alcohol units per week
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Differences in V*O2 kinetics during the intermittent exercise test between LcFAOD patients and healthy control subjects (objective 1) 2. Differences in parameters reflecting pulmonary, cardiac and skeletal muscle function during exercise between LcFAOD patients and healthy control subjects (objective 3). The following parameters will be taken into account: - Pulmonary function: Pulmonary function test: FEV1/VC (Tiffeneau-index) at rest. During maximum CPX test: V*O2 max, anaerobic threshold (AT), ventilation (VE) reserve, CO2 ventilation equivalent (EqCO2) and O2 saturation and O2 (pulse oximetry, SpO2). - Cardiac function: During maximum CPX: V*O2 max, HR reserve, Cardiac output (CO) and AT, EqCO2 and a O2 pulse plateau. NT-proBNP and troponin in plasma. - Skeletal muscle function: During maximum CPX: V*O2 max, AT, VE reserve. Muscle size and strength (resistance test and echography). CK, lactate, ammonia in plasma. 3. Associations of VO2 kinetics during the intermittent test with the VO2 max in the incremental test, daily physical activity measured using the accelerometer, the SQUASH score and the patient-reported myopathic symptoms (objective 2). 4. Differences in measured (using an accelerometer) and reported (using questionnaires) daily physical activity between lcFAOD patients and healthy controls (objective 1). 5. Reproducibility of the VO2 kinetics during the intermittent test as well as the changes in these parameters in response to an intervention (training)(objective 4). | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. The body fat percentage in LcFAOD patients compared to that of healthy controls. | — |
Countries
Netherlands
Contacts
Public ContactC.K.S Snelder
Amsterdam UMC
Outcome results
None listed