RecruitingNot Applicable

Exercise Intolerance Study in Long Chain Fatty Acid Oxidation Disorders

Netherlands50 participantsStarted 2023-08-01

Plain-language 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.

Who can participate

Age range18 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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 * Chron…

What they're measuring

1. Differences in V'O2/ V'CO2/heart rate kinetics during the intermittent exercise test between LcFAOD patients and healthy control subjects

Timeframe: At rest (baseline) and during the intermittent CPX test (30 min)

Anaerobic threshold (ml/kg/min)

Timeframe: During maximum exercise (max 30 min).

Ventilation reserve (L)

Timeframe: During maximum exercise (max 30 min).

CO2 ventilation equivalent (L/L)

Timeframe: During maximum exercise (max 30 min).

Cardiac Output (L/min)

Timeframe: During maximum exercise (max 30 min).

Heart rate reserve (per minute)

Timeframe: During maximum exercise (max 30 min).

Muscle size on echography (cm)

Timeframe: Baseline

Muscle strength via resistance test (kg)

Timeframe: Baseline

Trial details

NCT IDNCT05924555

SponsorAcademisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2028-08-01

Contact for this trial

Khya Snelder, BSc

20 5666791 c.k.snelder@amsterdamumc.nl

View on ClinicalTrials.gov More Long-chain Fatty Acid Oxidation Disorders trials

Plain-language summary

Who can participate

Age range18 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

1. Differences in V'O2/ V'CO2/heart rate kinetics during the intermittent exercise test between LcFAOD patients and healthy control subjects

Timeframe: At rest (baseline) and during the intermittent CPX test (30 min)

Anaerobic threshold (ml/kg/min)

Timeframe: During maximum exercise (max 30 min).

Ventilation reserve (L)

Timeframe: During maximum exercise (max 30 min).

CO2 ventilation equivalent (L/L)

Timeframe: During maximum exercise (max 30 min).

Cardiac Output (L/min)

Timeframe: During maximum exercise (max 30 min).

Heart rate reserve (per minute)

Timeframe: During maximum exercise (max 30 min).

Muscle size on echography (cm)

Timeframe: Baseline

Muscle strength via resistance test (kg)

Timeframe: Baseline