Clinical trial NCT04021732: Effects of Exercise on Metabolic Parameters in Classical Homocystinuria
Official title: Effects of Exercise on Metabolic Parameters in Treated Patients With Classical Homocystinuria: a Research Project on a Small Sample Size, Compared to Healthy Controls.
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Homocystinuria
Lead sponsor: University of Lausanne
Sponsor class: OTHER
First posted: 2019-07-16
Enrollment: 12
Sex: ALL
Minimum age (years): 18
Maximum age (years): 60
Standard ages: ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Endocrinology Clinic

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.

Eligibility criteria: 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)

Primary outcomes:
measure: Plasma homocysteine concentration
timeFrame: -90 minutes before exercise to 24 hours after a 30 minute exercise
Secondary outcomes:
measure: Dietary parameters
timeFrame: During 3 days before and on the day of the exercise (day 1)
measure: Indirect calorimetry
timeFrame: -90 minutes before exercise to the end of exercise (+30 minutes)
measure: Plasma amino acid profile
timeFrame: -90 minutes before exercise to 24hours after a 30 minute exercise
measure: Plasma Insulin concentration
timeFrame: -90 minutes before exercise to 24 hours after a 30 minute exercise
measure: Plasma lactate concentration
timeFrame: -90 minute before exercise to 24 hours after a 30 minute exercise
measure: Plasma glucagon concentration
timeFrame: -90 minute before exercise to 24 hours after a 30 minute exercise
measure: Plasma free fatty acids concentration
timeFrame: -90 minute before exercise to 24 hours after a 30 minute exercise
measure: Plasma ketone bodies concentration
timeFrame: -90 minute before exercise to 24 hours after a 30 minute exercise
measure: Plasma cortisol concentration
timeFrame: -90 minute before exercise to 24 hours after a 30 minute exercise
measure: Blood pressure
timeFrame: -90 min before exercise to 24 hours after a 30 minute exercise
Other outcomes:
Locations:
city: Lausanne
country: Switzerland
facility: Département de physiologie
state: Vaud
city: Lausanne
country: Switzerland
facility: Lausanne University Hospitals
state: Vaud
Study officials:
References: