Homocystinuria
Conditions
Brief summary
The aim of this research project is to compare the effect of an aerobic exercise session in two different populations. Sampling biological material and collecting health-related personal data entails minimal risks and burdens. Participants will be asked to perform 30 minutes of an aerobic exercise on an ergocycle at a fixed power output to correspond to a moderate intensity for a sedentary population.
Detailed description
Background Among genetic causes of hyperhomocysteinemia, classical homocystinuria, manifest not only with vascular diseases but also with neurological symptoms. This is related to the higher homocysteine concentration of up to 150-300 μmol/l without treatment. Recently, some articles have shown that mild and temporary hyperhomocysteinemia may follow exercise in a healthy population. Investigators hypothesized that increase in homocysteine may be of greater importance in patients with classical homocystinuria where cystathionine beta-synthase deficiency prevents homocysteine metabolism. Objective To investigate the effect of an aerobic exercise in patients with classical homocystinuria on metabolic parameters compared to healthy controls.
Interventions
None listed
Sponsors
University of Lausanne
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 60 Years
Healthy volunteers
Yes
Inclusion criteria
for subjects: * Informed consent as documented by signature * Confirmed biallelic mutation of cystathionine beta-synthase deficiency gene (homozygous or compound heterozygous) in an accredited Laboratory * Continuation of their regular treatment under same dose (e.g. vitamin B6, B9 and B12, betaine) as prior to the study inclusion Inclusion Criteria for controls: \- Healthy
Exclusion criteria
* Any clinically instable concomitant disease * Individuals with acute cardiac events, syncope, rhythm disturbances or unstable hypertension in the past 6 months * Individuals with vitamins B9 or B12 deficiencies * Homocysteine \> 100 µmol/l (for subjects) * Homocysteine \> 20 µmol/l (for controls)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Plasma homocysteine concentration | -90 minutes before exercise to 24 hours after a 30 minute exercise | Change in homocysteine concentration after a 30 minute exercise at fixed wattage |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Dietary parameters | During 3 days before and on the day of the exercise (day 1) | self-reporting daily food diary |
| Indirect calorimetry | -90 minutes before exercise to the end of exercise (+30 minutes) | Energy expenditure |
| Plasma amino acid profile | -90 minutes before exercise to 24hours after a 30 minute exercise | Change in amino acid profile after a 30 minute exercise at fixed wattage |
| Plasma Insulin concentration | -90 minutes before exercise to 24 hours after a 30 minute exercise | Change in insulin concentration after a 30 minute exercise at fixed wattage |
| Blood pressure | -90 min before exercise to 24 hours after a 30 minute exercise | Change in blood pressure after a 30 minute exercise at fixed wattage |
| Plasma glucagon concentration | -90 minute before exercise to 24 hours after a 30 minute exercise | Change in glucagon concentration after a 30 minute exercise at fixed wattage |
| Plasma free fatty acids concentration | -90 minute before exercise to 24 hours after a 30 minute exercise | Change in free fatty acids concentration after a 30 minute exercise at fixed wattage |
| Plasma ketone bodies concentration | -90 minute before exercise to 24 hours after a 30 minute exercise | Change in ketone bodies concentration after a 30 minute exercise at fixed wattage |
| Plasma cortisol concentration | -90 minute before exercise to 24 hours after a 30 minute exercise | Change in cortisol concentration after a 30 minute exercise at fixed wattage |
| Plasma lactate concentration | -90 minute before exercise to 24 hours after a 30 minute exercise | Change in lactate concentration after a 30 minute exercise at fixed wattage |
Countries
Switzerland
Outcome results
None listed