Effects of Exercise on Metabolic Parameters in Classical Homocystinuria

Homocystinuria Clinical Trial

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.

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04021732
• Other study ID #: 2018-02400
• Status: Completed
• Start date: July 1, 2019
• Est. completion date: December 1, 2020

Study information

• Verified date: February 2021
• Source: University of Lausanne
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 12
• Est. completion date: December 1, 2020
• Est. primary completion date: April 30, 2020
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 60 Years

Eligibility

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)

Related Conditions & MeSH terms

• Homocystinuria

Locations

Country	Name	City	State
Switzerland	Département de physiologie	Lausanne	Vaud
Switzerland	Lausanne University Hospitals	Lausanne	Vaud

Sponsors (1)

Lead Sponsor	Collaborator
University of Lausanne

Country where clinical trial is conducted

Switzerland, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Plasma homocysteine concentration	Change in homocysteine concentration after a 30 minute exercise at fixed wattage	-90 minutes before exercise to 24 hours after a 30 minute exercise
Secondary	Dietary parameters	self-reporting daily food diary	During 3 days before and on the day of the exercise (day 1)
Secondary	Indirect calorimetry	Energy expenditure	-90 minutes before exercise to the end of exercise (+30 minutes)
Secondary	Plasma amino acid profile	Change in amino acid profile after a 30 minute exercise at fixed wattage	-90 minutes before exercise to 24hours after a 30 minute exercise
Secondary	Plasma Insulin concentration	Change in insulin concentration after a 30 minute exercise at fixed wattage	-90 minutes before exercise to 24 hours after a 30 minute exercise
Secondary	Plasma lactate concentration	Change in lactate concentration after a 30 minute exercise at fixed wattage	-90 minute before exercise to 24 hours after a 30 minute exercise
Secondary	Plasma glucagon concentration	Change in glucagon concentration after a 30 minute exercise at fixed wattage	-90 minute before exercise to 24 hours after a 30 minute exercise
Secondary	Plasma free fatty acids concentration	Change in free fatty acids concentration after a 30 minute exercise at fixed wattage	-90 minute before exercise to 24 hours after a 30 minute exercise
Secondary	Plasma ketone bodies concentration	Change in ketone bodies concentration after a 30 minute exercise at fixed wattage	-90 minute before exercise to 24 hours after a 30 minute exercise
Secondary	Plasma cortisol concentration	Change in cortisol concentration after a 30 minute exercise at fixed wattage	-90 minute before exercise to 24 hours after a 30 minute exercise
Secondary	Blood pressure	Change in blood pressure after a 30 minute exercise at fixed wattage	-90 min before exercise to 24 hours after a 30 minute exercise