Exercise Intolerance Study in Long Chain Fatty Acid Oxidation Disorders
NCT ID: NCT05924555
Last Updated: 2024-08-23
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
RECRUITING
50 participants
OBSERVATIONAL
2023-08-01
2028-08-01
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Physical Condition in Lipedema and Obesity
NCT01759004
Body Fat Distribution and Fat Metabolism
NCT00475774
Chronic Inflammatory Activation in Fat Tissue: An Atherogenic Factor in Severe Coronary Artery Disease
NCT00510705
A Prospective Study of the Disease Characteristics of Adult Patients With Long Chain Fatty Acid Oxidation Disorders
NCT04482049
Dietary Correlates of the Maximal Capacity for Fat Oxidation
NCT02070055
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
Hypothesis: Exercise intolerance in LcFAOD patients will be reflected in differences in VO2/VCO2 and heart rate kinetics during short periods of exercise compared to healthy subjects.
Primary Objective: 1. Objectify and quantify exercise intolerance in LcFAOD patients. 2. Determine the relationship between the measured exercise intolerance and patient-reported symptoms, daily life functioning, as well as known markers of disease severity.
Secondary Objective(s): 3. Determine the aetiology of exercise intolerance in LcFAODs. 4. Determine whether the intermittent exercise protocol can be used to establish the course of exercise intolerance and provide clinical outcome measure for future intervention studies.
Methods: Participants will be asked to wear an activity monitor (Activ8) for a period of 7 days. The participants will also perform two cardiopulmonary exercise (CPX) tests (one intermittent and one incremental). During the CPX tests gas exchange, ventilation, blood pressure and cardiac output will be measured and exhaustion level monitored. Blood samples will be taken before the first and after the second CPX test. The grip strength (Maximal Voluntary Contraction) and the leg muscle size (echography) will be assessed. Body composition (using BIA) will be assessed.
Approximately a year later all procedures, including the wearing of the activity monitor, will be repeated in all patients. Some participants will be asked to perform the two exercise tests again within two weeks of their first visit. This way reproducibility of the intermittent exercise protocol can be tested.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
CASE_CONTROL
PROSPECTIVE
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
LcFAOD-patients
Patients with long-chain Fatty Acid Oxidation including CPT2-, CACT-, VLCAD-, LCHAD-, or MTP-deficiency
Intermittent cardiopulmonary exercise test
Exercise test with step-change from rest to a relatively low constant workload.
Incremental cardiopulmonary exercise test
Exercise test with incremental workload until maximal workload.
Echography of upper leg
Determine upper leg muscle size
Hand grip strength with hand dynamometer
Determine muscle strength
Fill in questionnaires regarding physical activity
SQUASH, mMRC, questionnaire designed to report myopathic symptoms in LcFAOD patients.
Healthy controls
Controls are matched based on Age, Sex, BMI and comparable activity score assessed using the SQUASH questionnaire
Intermittent cardiopulmonary exercise test
Exercise test with step-change from rest to a relatively low constant workload.
Incremental cardiopulmonary exercise test
Exercise test with incremental workload until maximal workload.
Echography of upper leg
Determine upper leg muscle size
Hand grip strength with hand dynamometer
Determine muscle strength
Fill in questionnaires regarding physical activity
SQUASH, mMRC, questionnaire designed to report myopathic symptoms in LcFAOD patients.
Interventions
Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.
Intermittent cardiopulmonary exercise test
Exercise test with step-change from rest to a relatively low constant workload.
Incremental cardiopulmonary exercise test
Exercise test with incremental workload until maximal workload.
Echography of upper leg
Determine upper leg muscle size
Hand grip strength with hand dynamometer
Determine muscle strength
Fill in questionnaires regarding physical activity
SQUASH, mMRC, questionnaire designed to report myopathic symptoms in LcFAOD patients.
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* 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
* 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
18 Years
ALL
Yes
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Stichting Stofwisselkracht
UNKNOWN
Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Dr. Mirjam Langeveld
Principal Investigator
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Mirjam Langeveld, MD PhD
Role: PRINCIPAL_INVESTIGATOR
Amsterdam UMC, location AMC
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
Amsterdam UMC, location AMC
Amsterdam, North Holland, Netherlands
Countries
Review the countries where the study has at least one active or historical site.
Central Contacts
Reach out to these primary contacts for questions about participation or study logistics.
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
NL83869.018.23
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.