Magnetic Resonance Spectroscopy (MRS)-analysis of muscle energy metabolism in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

In vivo analysis by 1H- and 31P-MRS of the effect of moderate-intensity exercise on intramyocellular lipid content and mitochondrial function in patients with MCAD deficiency

Status

Active, not recruiting

Phases

Unknown

Study type

Interventional

Source

ISRCTN

Registry ID

ISRCTN14321657

Enrollment

Registered

2014-03-05

Start date

2012-10-01

Completion date

Unknown

Last updated

2015-01-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

MCAD deficiency Nutritional, Metabolic, Endocrine

Interventions

All participants undergo the two described study sessions as follows. Incremental test on bicycle ergometer for determination of VO2max (session 1). Exercise for 80 minutes on bicycle ergometer and MR

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Patient group: Patients with MCAD deficiency who are over 18 years of age Control group: Healthy volunteers over 18 years of age, matched for age and gender to the patient group

Exclusion criteria

Exclusion criteria: 1. Disease other than MCAD deficiency 2. Contra-indications for MR analysis (e.g. the presence of metals in the body)

Design outcomes

Primary

Measure	Time frame
Intramyocellular lipid content is measured by means of 1H-MRS. We obtain spectra at baseline and after prolonged exercise, and have professional help for analysis of the spectra.	—

Secondary

Measure	Time frame
Concentrations of phosphocreatine, adenosine 5?-triphosphate, inorganic phosphate, and intracellular pH. These are measured by 31P-MRS. We obtain spectra before, during, and after exercise, and have professional help for analysis of the spectra.	—

Countries

Netherlands

Outcome results

None listed

Source: ISRCTN (via WHO ICTRP) · Data processed: Feb 4, 2026