Effects of Exercise on Metabolic Parameters in Classical Homocystinuria

Effects of Exercise on Metabolic Parameters in Treated Patients With Classical Homocystinuria: a Research Project on a Small Sample Size, Compared to Healthy Controls.

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.

Study Overview

• Status: Completed
• Conditions: Homocystinuria

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.

• Study Type: Observational
• Enrollment (Actual): 12

Contacts and Locations

Study Locations

• Switzerland
  • Vaud
    • Lausanne, Vaud, Switzerland, 1011
      • Lausanne University Hospitals
    • Lausanne, Vaud, Switzerland, 1005
      • Département de physiologie

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years to 58 years (Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Endocrinology Clinic

Description

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)

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Dietary parameters	self-reporting daily food diary	During 3 days before and on the day of the exercise (day 1)
Indirect calorimetry	Energy expenditure	-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	-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	-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	-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	-90 minute before exercise to 24 hours after a 30 minute exercise
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
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
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
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

Collaborators and Investigators

• Sponsor: University of Lausanne

Study record dates

Study Major Dates

• Study Start (Actual): July 1, 2019
• Primary Completion (Actual): April 30, 2020
• Study Completion (Actual): December 1, 2020

Study Registration Dates

• First Submitted: July 9, 2019
• First Submitted That Met QC Criteria: July 15, 2019
• First Posted (Actual): July 16, 2019

Study Record Updates

• Last Update Posted (Actual): March 30, 2021
• Last Update Submitted That Met QC Criteria: March 27, 2021
• Last Verified: February 1, 2021

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Connective Tissue Diseases; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Hyperhomocysteinemia; Homocystinuria
• Other Study ID Numbers: 2018-02400

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No