High Intensity Exercise in Children With MCADD

NCT06796530 | Completed

• 1 other identifier: ONZ-2023-0579
• Study Type: interventional
• Target: 8
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Medium Chain Acyl CoA Dehydrogenase Deficiency

Keywords

MCADD; CPET; high intensity exercise; acylcarnitine

Outcome Measures

Primary Outcomes (1)

• 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.

  From start of exercise until 1.5 hours post-exercise.

Secondary Outcomes (3)

• Cardiorespiratory response during CPET

  During CPET (approximately 30 minutes).

• Safety: Incidence of adverse events during and after exercise.

  During and up to 48 hours post-exercise.

• acylcarnitines

  From the end of the exercise circuit until 1.5 hours post-exercise.

Other Outcomes (3)

• creatine kinase

  From the end of the exercise circuit until 1.5 hours post-exercise.

• lactate

  From the end of the exercise circuit until 1.5 hours post-exercise.

• Fat metabolism during recovery phase.

  From the end of the exercise circuit until 1.5 hours post high intensity exercise.

Study Arms (1)

study

EXPERIMENTAL

children aged 8-17 with Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) or control will undergo CPET and high intensity exercise circuit.

Procedure: Cardiopulmonary exercise test (CPET); Procedure: High-intensity circuit training

Interventions

Cardiopulmonary exercise test (CPET) PROCEDURE

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).

study

High-intensity circuit training PROCEDURE

The patients will undergo a 10-minute warm-up, followed by \~30 high intensity exercise circuit.

study

Eligibility Criteria

• Age: 8 Years - 17 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)

You may qualify if:

• y old
• Control subjects matched by sex, age, and self reported Tanner stage.
• All children: height and weight between P5-P95

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Ghent: lead

Study Sites (1)

Ghent University Hospital

Ghent, East Flanders, 9000, Belgium

Location

MeSH Terms

Conditions

Medium chain acyl CoA dehydrogenase deficiency

Interventions

Exercise Test

Intervention Hierarchy (Ancestors)

Heart Function Tests; Diagnostic Techniques, Cardiovascular; Diagnostic Techniques and Procedures; Diagnosis; Respiratory Function Tests; Diagnostic Techniques, Respiratory System; Ergometry; Investigative Techniques

Study Officials

• Patrick Verloo, MD

  University Hospital, Ghent

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Model Details: 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.

Study Record Dates

• First Submitted: January 9, 2025
• First Posted: January 28, 2025
• Study Start: January 20, 2025
• Primary Completion: March 19, 2026
• Study Completion: March 19, 2026
• Last Updated: March 23, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will share

Locations

BE (1)