Exercise Intolerance Study in Long Chain Fatty Acid Oxidation Disorders
Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
50 participants
Aug 1, 2023
OBSERVATIONAL
Conditions
Summary
In this study, the exercise tolerance in patients with long-chain fatty acid oxidation disorders (LcFAOD) will be compared to that of healthy volunteers who are carefully matched in terms of age, sex, BMI and physical activity score. The study aims to assess exercise capacity using cardiopulmonary exercise (CPX) tests and activity monitoring over a 7-day period. The hypothesis of the study is that LcFAOD patients will exhibit greater oxygen debt during short periods of exercise compared to healthy individuals. These findings will contribute to a better understanding of exercise intolerance in LcFAOD patients and may guide the development of targeted interventions, such as exercise training programs and enable the analysis of effectiveness of (new) treatments.
Eligibility
Inclusion Criteria4
- 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 Criteria14
- 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 controls:
- 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
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Interventions
Exercise test with step-change from rest to a relatively low constant workload.
Exercise test with incremental workload until maximal workload.
Determine upper leg muscle size
Determine muscle strength
SQUASH, mMRC, questionnaire designed to report myopathic symptoms in LcFAOD patients.
Locations(1)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT05924555