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Exercise Intolerance Study in Long Chain Fatty Acid Oxidation Disorders

ConditionLong-chain Fatty Acid Oxidation Disorders
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorAcademisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)

About this trial

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 criteria

This trial accepts healthy volunteers

Qualifiers

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.

Disqualifiers

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

Trial population

All adult patients with long chain fatty acid oxidation disorders are under follow-up are eligible to participate in the study. Each patients will be compared to a matched healthy control subject (one healthy subject can serve as a control for more than one LcFAOD patient). Matching will be done by age (± 3 years), sex, BMI (± 2 kg/m2) and a comparable activity score assessed using a questionnaire (the Short Questionnaire to Asses Health enhancing physical activity (SQUASH).

Trial design

Design model

Case-control

Time perspective

Prospective

Treatments tested in this trial

  • Intermittent cardiopulmonary exercise test

    Other intervention

    Exercise test with step-change from rest to a relatively low constant workload.

  • Incremental cardiopulmonary exercise test

    Other intervention

    Exercise test with incremental workload until maximal workload.

  • Echography of upper leg

    Other intervention

    Determine upper leg muscle size

  • Hand grip strength with hand dynamometer

    Other intervention

    Determine muscle strength

  • Fill in questionnaires regarding physical activity

    Other intervention

    SQUASH, mMRC, questionnaire designed to report myopathic symptoms in LcFAOD patients.

Treatment groups

50 Participants
are divided into 2 treatment groups
Group A: LcFAOD-patients5 interventions
Group B: Healthy controls5 interventions

Trial outcomes

Primary outcomes

1

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

Time frame
At rest (baseline) and during the intermittent CPX test (30 min)
2

Anaerobic threshold (ml/kg/min)

Pulmonary involvement/Cardiac dysfunction/Skeletal muscle alterations

Time frame
During maximum exercise (max 30 min).
3

Ventilation reserve (L)

Pulmonary involvement/Skeletal muscle alterations

Time frame
During maximum exercise (max 30 min).
4

CO2 ventilation equivalent (L/L)

Pulmonary involvement/Cardiac dysfunction

Time frame
During maximum exercise (max 30 min).

Secondary outcomes

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

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

Lead sponsor

Stichting Stofwisselkracht

Collaborator

Source ClinicalTrials.gov
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