Assessing exercise intolerance in patients with long-chain fatty acid oxidation disorders
Exercise Intolerance Study in Long Chain Fatty Acid Oxidation Disorders
This study is testing how well people with long-chain fatty acid oxidation disorders can exercise compared to healthy individuals to better understand their exercise challenges and symptoms.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA) Academic / other |
| Locations | 1 site (Amsterdam, North Holland) |
| Trial ID | NCT05924555 on ClinicalTrials.gov |
What this trial studies
This observational study compares exercise tolerance in patients with long-chain fatty acid oxidation disorders (LcFAOD) to healthy volunteers matched by age, sex, BMI, and physical activity. It utilizes cardiopulmonary exercise tests and activity monitoring over a week to assess exercise capacity. The study aims to quantify exercise intolerance and explore its relationship with patient-reported symptoms and disease severity. The findings may inform targeted interventions and improve understanding of exercise intolerance in LcFAOD patients.
Who should consider this trial
Good fit: Ideal candidates include adults aged 18 and older with a confirmed diagnosis of specific long-chain fatty acid oxidation disorders.
Not a fit: Patients with recent acute myocardial infarction, uncontrolled heart conditions, or severe renal dysfunction may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better management strategies and targeted exercise programs for patients with LcFAOD.
How similar studies have performed: While there is limited research specifically on exercise intolerance in LcFAOD, similar studies in other metabolic disorders have shown promising results.
Eligibility criteria
Show full inclusion / exclusion 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: 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: * 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
Where this trial is running
Amsterdam, North Holland
- Amsterdam UMC, location AMC — Amsterdam, North Holland, Netherlands (Recruiting)
Study contacts
- Principal investigator: Mirjam Langeveld, MD PhD — Amsterdam UMC, location AMC
- Study coordinator: Khya Snelder, BSc
- Email: c.k.snelder@amsterdamumc.nl
- Phone: 20 5666791
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.