Skeletal Muscle Metabolism during Rest, Exercise and Recovery in Patients with VLCADD and healthy controls

Completed

Conditions: Beta-oxidation disturbance
fatty-acid oxidation disease
10021605
10028302

Registration Number: NL-OMON37550

Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 16

Inclusion Criteria

Patients with VLCADD
- diagnosis confirmed by enzyme assay and mutation analysis
- between 12 and 45 years
Healthy controls:
- between 12 and 45 years
- free from constraints in performing a maximal exercise test

Exclusion Criteria

Patients with VLCADD:
- ineligible to perform an exercise test
- pregnancy
- myopathic exacerbation at time of investigation
- with severe complications due to cardiomyopathy/arrythmia
- with severe complications due to epilepsia
- not familiar with the Dutch language
- presence of contra-indications for 31P/1H MRS measurements (assessed by standardised questionnaire as previously used in METC 08-267/K; see section F METC documents)
Healthy controls:
- ineligible to perform an exercise test (assessed by a standardised questionnaire as previously used in METC 10-468)
- not familiar with the Dutch language
- presence of contra-indications for 31P/1H MRS measurements (assessed by a standardised questionnaire as previously used in METC 08-267/K)

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>o Blood parameters: glucose, lactaat, creatine kinase (CK)<br /><br>o Resting, and FATMAX exercise phoscreatine (PCr)<br /><br>o Resting, and FATMAX Inorganic phosphorus (Pi)<br /><br>o Resting, and FATMAX pH<br /><br>o Resting and FATMAX phosphate potential (delta GP)<br /><br>o Resting, and FATMAX hexose monophosphates (HMP)<br /><br>o Resting, and FATMAX IMCL content<br /><br>o Stroke volume<br /><br>o Urine: myoglobine</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>o Peak workload (Wpeak)<br /><br>o Resting and peak oxygen uptake (VO2peak/kg (ml/min/kg) )<br /><br>o Resting and peak minute ventilation (VEpeak) (L/min)<br /><br>o Resting and peak respiratory exchange ratio (RER = VCO2/VO2)<br /><br>o Resting and peak heart rate (HR; bpm)</p><br>