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Recruiting NCT05924555

NCT05924555 Exercise Intolerance Study in Long Chain Fatty Acid Oxidation Disorders

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Clinical Trial Summary
NCT ID NCT05924555
Status Recruiting
Phase
Sponsor Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Condition Long-chain Fatty Acid Oxidation Disorders
Study Type OBSERVATIONAL
Enrollment 50 participants
Start Date 2023-08-01
Primary Completion 2028-08-01

Eligibility & Interventions

Sex All sexes
Min Age 18 Years
Max Age N/A
Study Type OBSERVATIONAL
Interventions
Intermittent cardiopulmonary exercise testIncremental cardiopulmonary exercise testEchography of upper leg

Eligibility Fast-Check

Enter your details for a quick preliminary check. This does not replace medical advice.

What to Expect as a Participant

This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.

This trial targets 50 participants in total. It began in 2023-08-01 with a primary completion date of 2028-08-01.

⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.

Brief 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.

Eligibility 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

Contact & Investigator

Central Contact

Khya Snelder, BSc

✉ c.k.snelder@amsterdamumc.nl

📞 20 5666791

Principal Investigator

Mirjam Langeveld, MD PhD

PRINCIPAL INVESTIGATOR

Amsterdam UMC, location AMC

Frequently Asked Questions

Who can join the NCT05924555 clinical trial?

This trial is open to participants of all sexes, aged 18 Years or older, studying Long-chain Fatty Acid Oxidation Disorders. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.

Is NCT05924555 currently recruiting?

Yes, NCT05924555 is actively recruiting participants. Contact the research team at c.k.snelder@amsterdamumc.nl for enrollment information.

Where is the NCT05924555 trial being conducted?

This trial is being conducted at Amsterdam, Netherlands.

Who is sponsoring the NCT05924555 clinical trial?

NCT05924555 is sponsored by Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA). The principal investigator is Mirjam Langeveld, MD PhD at Amsterdam UMC, location AMC. The trial plans to enroll 50 participants.

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