Medium Chain Acyl CoA Dehydrogenase DeficiencyMCADD-EXNCT06796530
High Intensity Exercise in Children With MCADD
A study testing Cardiopulmonary exercise test (CPET) and High-intensity circuit training in people with Medium Chain Acyl CoA Dehydrogenase Deficiency, run by University Hospital, Ghent at 1 site in Belgium.
Trial summary
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare genetic disorder affecting the body's ability to break down certain fats (β-oxidation) for energy, leading to symptoms like hypoketotic hypoglycaemia, jaundice, cardiomyopathy and seizures. Read more about this study
- Who is it for?
- Ages 8 to 17 yearsHealthy volunteers can take part
- Conditions the study is for
- Medium Chain Acyl CoA Dehydrogenase Deficiency
- What is being tested?
- Cardiopulmonary exercise test (CPET) and High-intensity circuit training
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 8 participants
- Where
- 1 siteBelgium
- Study dates
- 20 Jan 2025to 19 Mar 2026
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 8 to 17 years
- All sexes
- Healthy volunteers accepted
- Child
Who may be able to join
- 8-17y old
- Control subjects matched by sex, age, and self reported Tanner stage.
- All children: height and weight between P5-P95
Who cannot join
- No daily medication use
- No conditions other than MCADD that restrict sports participation or physiology (e.g., no heart diseases, diabetes).
- < P5 or > P95 on the height-weight curve
- No neuromotor developmental delay (e.g., delayed achievement of motor milestones)
- No recent immobilization (<6 months)
- No surgeries involving the musculoskeletal system
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Medium-Chain Acyl-Coa Dehydrogenase Deficiency (MCADD) and Exercise
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare genetic disorder affecting the body's ability to break down certain fats (β-oxidation) for energy, leading to symptoms like hypoketotic hypoglycaemia, jaundice, cardiomyopathy and seizures. responsible for the dehydrogenation step of fatty acids with chain lengths between 6 and 12 carbons as they undergo beta-oxidation in the mitochondria. Deficiency in MCAD can result in energy deficiency, the accumulation of acylcarnitine's and low serum carnitine concentrations.
The primary objective of the pilot study is to analyse the effects of high-intensity exercise (cardiopulmonary exercise testing (CPET) \& high intensity circuit exercises ) on metabolic parameters and safety. This research is a pilot study comparing four patients with MCADD to four control subjects with the same characteristics. Blood samples are collected for analysis of substrate utilization.
Read the detailed description
The primary objective of the study is to analyse the effects of high-intensity exercise (CPET \& high intensity circuit exercises) on metabolic parameters and safety. Since exercise is tested approximately two hours after a meal, we expect few symptoms, as fat metabolism is only minimally engaged at this intensity. Of interest could be the recovery from exercise, as fat metabolism is presumably activated during this phase.
Each MCADD-patient will attend two experimental visits. On the day of the first visit, the patient will arrive at UZ Gent after 1.5-hours following the meal. After 30 minutes, they will perform a cardiopulmonary exercise test (CPET) on a cycle ergometer. The standard CPET protocol that will be used is as follows: first, three minutes of cycling at a constant load (body weight (kg) / 2) in Watts), followed by a maximal exercise test (Ramp protocol: (body weight (kg) / 4) in Watts per minute). During the cycling test, gas exchange (spirometry) is measured, and an ECG is taken. If no symptoms are observed, the patient may return home. On the second test day, two hours before the test, a breakfast will be consumed. 1.5-hours following the meal, the patient will arrive at UZ Gent, where a heart monitor will be placed, and an intravenous line will be inserted. Following this, the patient will undergo a high-intensity exercise circuit. Blood samples will be taken before and after the exercise at various intervals: immediately, after 30 minutes, 1 hour, and 1.5-hours. Also, RER will be determined at each timepoint using indirect calorimetry. If no symptoms appear, the patient may return home. The patient will report symptoms for the 48 hours following the test. In the blood samples, measures of substrate utilization will be monitored: Glucose, lactate, acylcarnitine levels, free fatty acids (FFA). Also a marker of muscle damage will be assessed (creatine kinase). Additional measures include: anthropometric measurements, including weight and height, physical activity through the children physical activity questionnaire).
- Being tested
- Cardiopulmonary exercise test (CPET), High-intensity circuit training
- Keywords
- MCADD, CPET, high intensity exercise, acylcarnitine
- Medical subject headings
- Medium chain acyl CoA dehydrogenase deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Cardiopulmonary exercise test (CPET)Procedure or surgery
Participants undergo a CPET on a stationary bike, measuring gas exchange, ECG, and other parameters. The protocol includes 3 minutes of cycling at a constant load (body weight/2 in Watts), followed by a maximal effort test with an incremental load (Ramp protocol body weight (kg) / 4 in Watts per minute).
High-intensity circuit trainingProcedure or surgery
The patients will undergo a 10-minute warm-up, followed by ~30 high intensity exercise circuit.
| Study group | Role | What they receive |
|---|---|---|
| study | Experimental | children aged 8-17 with Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) or control will undergo CPET and high intensity exercise circuit. Receives: Procedure: Cardiopulmonary exercise test (CPET); Procedure: High-intensity circuit training |
What is being measured
The primary outcome is the main question the study is designed to answer.
glucose
Analysis of glucose in blood samples taken before, immediately after, and at intervals (30 minutes, 1 hour, and 1.5 hours) following high-intensity exercise.
Measured: From start of exercise until 1.5 hours post-exercise.
Secondary outcomes (3)
Cardiorespiratory response during CPET
Measurement of maximal oxygen uptake during the cardiopulmonary exercise test (CPET) on a stationary bike.
Measured: During CPET (approximately 30 minutes).
Safety: Incidence of adverse events during and after exercise.
Monitoring and recording of any symptoms, adverse events, or complications during exercise and the following 48 hours
Measured: During and up to 48 hours post-exercise.
acylcarnitines
Monitoring of acylcarnitines before and after high intensity exercise
Measured: From the end of the exercise circuit until 1.5 hours post-exercise.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jan 2025
- Study start20 Jan 2025
- Primary completion19 Mar 2026
- Study completion19 Mar 2026
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Medium Chain Acyl CoA Dehydrogenase DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- One group of MCADD patients and one healthy control group. Both groups undergo the same exercise protocols and metabolic assessments to compare physiological responses and recovery. The MCADD group's responses are compared to those of the control group to analyze differences in metabolic parameters and safety outcomes following high-intensity exercise.
- Masking
- None (open label)
- Enrolment
- 8 participants (actual)
Sponsor and investigators
- Lead sponsor
- University Hospital, Ghent
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Patrick Verloo, MD, Principal investigator, University Hospital, Ghent
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06796530
- Sponsor's protocol ID
- ONZ-2023-0579
- Acronym
- MCADD-EX
- Status last verified
- Mar 2026
- First submitted
- 9 Jan 2025
- Last updated
- 23 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: All anonymous data will be made available upon publication
Study at a glance
From the registry record, last updated by the sponsor on 23 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Medium-Chain Acyl-Coa Dehydrogenase Deficiency (MCADD) and Exercise
- ClinicalTrials.gov ID
- NCT06796530
- Acronym / sponsor ID
- MCADD-EX / ONZ-2023-0579
- Keywords
- MCADD, CPET, high intensity exercise, acylcarnitine
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 8 participants (actual)
- Lead sponsor
- University Hospital, GhentUniversity, hospital or other
- Study start
- 20 Jan 2025 (actual)
- Primary completion
- 19 Mar 2026 (actual)
- Study completion
- 19 Mar 2026 (actual)
- First posted
- 28 Jan 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare genetic disorder affecting the body's ability to break down certain fats (β-oxidation) for energy, leading to symptoms like hypoketotic hypoglycaemia, jaundice, cardiomyopathy and seizures. responsible for the dehydrogenation step of fatty acids with chain lengths between 6 and 12 carbons as they undergo beta-oxidation in the mitochondria. Deficiency in MCAD can result in energy deficiency, the accumulation of acylcarnitine's and low serum carnitine concentrations.
The primary objective of the pilot study is to analyse the effects of high-intensity exercise (cardiopulmonary exercise testing (CPET) \& high intensity circuit exercises ) on metabolic parameters and safety. This research is a pilot study comparing four patients with MCADD to four control subjects with the same characteristics. Blood samples are collected for analysis of substrate utilization.
Detailed description
The primary objective of the study is to analyse the effects of high-intensity exercise (CPET \& high intensity circuit exercises) on metabolic parameters and safety. Since exercise is tested approximately two hours after a meal, we expect few symptoms, as fat metabolism is only minimally engaged at this intensity. Of interest could be the recovery from exercise, as fat metabolism is presumably activated during this phase.
Each MCADD-patient will attend two experimental visits. On the day of the first visit, the patient will arrive at UZ Gent after 1.5-hours following the meal. After 30 minutes, they will perform a cardiopulmonary exercise test (CPET) on a cycle ergometer. The standard CPET protocol that will be used is as follows: first, three minutes of cycling at a constant load (body weight (kg) / 2) in Watts), followed by a maximal exercise test (Ramp protocol: (body weight (kg) / 4) in Watts per minute). During the cycling test, gas exchange (spirometry) is measured, and an ECG is taken. If no symptoms are observed, the patient may return home. On the second test day, two hours before the test, a breakfast will be consumed. 1.5-hours following the meal, the patient will arrive at UZ Gent, where a heart monitor will be placed, and an intravenous line will be inserted. Following this, the patient will undergo a high-intensity exercise circuit. Blood samples will be taken before and after the exercise at various intervals: immediately, after 30 minutes, 1 hour, and 1.5-hours. Also, RER will be determined at each timepoint using indirect calorimetry. If no symptoms appear, the patient may return home. The patient will report symptoms for the 48 hours following the test. In the blood samples, measures of substrate utilization will be monitored: Glucose, lactate, acylcarnitine levels, free fatty acids (FFA). Also a marker of muscle damage will be assessed (creatine kinase). Additional measures include: anthropometric measurements, including weight and height, physical activity through the children physical activity questionnaire).
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- One group of MCADD patients and one healthy control group. Both groups undergo the same exercise protocols and metabolic assessments to compare physiological responses and recovery. The MCADD group's responses are compared to those of the control group to analyze differences in metabolic parameters and safety outcomes following high-intensity exercise.
| Arm | Type | Receives |
|---|---|---|
| study | Experimental | Procedure: Cardiopulmonary exercise test (CPET), Procedure: High-intensity circuit trainingchildren aged 8-17 with Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) or control will undergo CPET and high intensity exercise circuit. |
Who may qualify
- Ages
- 8 to 17 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
Key inclusion criteria (3 listed)
- 8-17y old
- Control subjects matched by sex, age, and self reported Tanner stage.
- All children: height and weight between P5-P95
Key exclusion criteria (6 listed)
- No daily medication use
- No conditions other than MCADD that restrict sports participation or physiology (e.g., no heart diseases, diabetes).
- < P5 or > P95 on the height-weight curve
- No neuromotor developmental delay (e.g., delayed achievement of motor milestones)
- No recent immobilization (<6 months)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Cardiopulmonary exercise test (CPET)Participants undergo a CPET on a stationary bike, measuring gas exchange, ECG, and other parameters. The protocol includes 3 minutes of cycling at a constant load (body weight/2 in Watts), followed by a maximal effort test with an incremental load (Ramp protocol body weight (kg) / 4 in Watts per minute). | Procedure or surgery | study |
| High-intensity circuit trainingThe patients will undergo a 10-minute warm-up, followed by ~30 high intensity exercise circuit. | Procedure or surgery | study |
Primary outcome
glucose
Time frame: From start of exercise until 1.5 hours post-exercise.
Analysis of glucose in blood samples taken before, immediately after, and at intervals (30 minutes, 1 hour, and 1.5 hours) following high-intensity exercise.
3 secondary outcomes
Cardiorespiratory response during CPET
Time frame: During CPET (approximately 30 minutes).
Safety: Incidence of adverse events during and after exercise.
Time frame: During and up to 48 hours post-exercise.
acylcarnitines
Time frame: From the end of the exercise circuit until 1.5 hours post-exercise.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Mar 2026.
- Individual participant dataSharing planned: Yes. All anonymous data will be made available upon publication
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Patrick Verloo, MD principal investigator
University Hospital, Ghent
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Cardiopulmonary exercise test (CPET) and High-intensity circuit training in people with Medium Chain Acyl CoA Dehydrogenase Deficiency, run by University Hospital, Ghent at 1 site in Belgium.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 23 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Belgium. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
glucose (time frame: From start of exercise until 1.5 hours post-exercise.). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Mar 2026; AzTrials last refreshed its copy on 30 Oct 2026.