Effects of Exercise on Metabolic Parameters in Classical Homocystinuria

University of Lausanne12 enrolled

Overview

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.

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Homocystinuria

Eligibility

Sex: ALLMin age: 18 YearsMax age: 60 YearsHealthy volunteers:

Medical Language ↔ Plain English

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)

Locations (2)

Département de physiologie

Lausanne, Canton of Vaud, Switzerland

Lausanne University Hospitals

Lausanne, Canton of Vaud, Switzerland

Outcomes

Primary Outcomes

Plasma homocysteine concentration

Change in homocysteine concentration after a 30 minute exercise at fixed wattage

Time frame: -90 minutes before exercise to 24 hours after a 30 minute exercise

Secondary Outcomes

Dietary parameters

self-reporting daily food diary

Time frame: During 3 days before and on the day of the exercise (day 1)

Indirect calorimetry

Energy expenditure

Time frame: -90 minutes before exercise to the end of exercise (+30 minutes)

Plasma amino acid profile

Change in amino acid profile after a 30 minute exercise at fixed wattage

Time frame: -90 minutes before exercise to 24hours after a 30 minute exercise

Plasma Insulin concentration

Change in insulin concentration after a 30 minute exercise at fixed wattage

Time frame: -90 minutes before exercise to 24 hours after a 30 minute exercise

Plasma lactate concentration

Change in lactate concentration after a 30 minute exercise at fixed wattage

Time frame: -90 minute before exercise to 24 hours after a 30 minute exercise

Plasma glucagon concentration

Change in glucagon concentration after a 30 minute exercise at fixed wattage

Time frame: -90 minute before exercise to 24 hours after a 30 minute exercise

Plasma free fatty acids concentration

Data from ClinicalTrials.gov

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