Assessing exercise intolerance in patients with long-chain fatty acid oxidation disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.