Exercise Intolerance Study in Long Chain Fatty Acid Oxidation Disorders
- Conditions
- Long-chain Fatty Acid Oxidation Disorders
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- All
- Target Recruitment
- 50
Inclusion Criteria:<br><br> - LC-FAOD patients:<br><br> - Men and women (age =18 years) with a confirmed diagnosis of carnitine<br> palmitoyltransferase 2 (CPT2) deficiency, Carnitine-acylcarnitine translocase (CACT)<br> deficiency, Mitochondrial Trifunctional protein (MTP) deficiency, Very-long-chain<br> acyl-CoA dehydrogenase (VLCAD) deficiency or Long-chain 3-hydroxyacyl-CoA<br> dehydrogenase (LCHAD) deficiency.<br><br>Healthy control subjects:<br><br> - Healthy men and women age = 18 years<br><br>Exclusion Criteria:<br><br>LcFAOD patients:<br><br> - Pregnancy<br><br> - Recent acute myocardial infarction (<6 months prior to inclusion)<br><br> - Uncontrolled arrhythmia/severe conduction disorder causing hemodynamic compromise<br><br> - Implantable pacemaker or other cardiac device with complete ventricular pacing<br><br> - Uncontrolled heart failure with hemodynamic compromise<br><br> - Uncontrolled hypertension (Systolic Blood Pressure >150 mmHg and Diastolic Blood<br> Pressure >100 mmHg on repeated measurements)<br><br> - Active infection, anemia, severe renal dysfunction (estimated Glomerular filtration<br> rate < 30 ml/min/1,73m2), or other chronic disease likely to significantly impact<br> exercise performance<br><br> - History of severe asthma or chronic obstructive pulmonary disease<br><br> - Active use of medication likely to affect exercise tolerance<br><br>Healthy controls:<br><br> - All abovementioned exclusion criteria for LcFOAD patients<br><br> - History of smoking - History of asthma, chronic obstructive pulmonary disease, heart<br> failure, heart surgery, heart rhythm disorders or congenital heart diseases<br><br> - Chronic illness (including orthopedic, endocrinological, hematological, malignant,<br> gastrointestinal, neurological, muscle or inflammatory disorders) likely to<br> significantly impact on exercise performance<br><br> - > 6 alcohol units per day or > 14 alcohol units per week
Not provided
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 1. Differences in V'O2/ V'CO2/heart rate kinetics during the intermittent exercise test between LcFAOD patients and healthy control subjects;Anaerobic threshold (ml/kg/min);Ventilation reserve (L);CO2 ventilation equivalent (L/L);Cardiac Output (L/min);Heart rate reserve (per minute);Muscle size on echography (cm);Muscle strength via resistance test (kg)
- Secondary Outcome Measures
Name Time Method