Effects of Exercise on Metabolic Parameters in Classical Homocystinuria

NCT04021732 | Completed

• 1 other identifier: 2018-02400
• Study Type: observational
• Target: 12
• Locations: 1 country
• Sites: 2

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.

Conditions

Homocystinuria

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (10)

• Dietary parameters

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

• Indirect calorimetry

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

• Plasma amino acid profile

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

• Plasma Insulin concentration

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

• Plasma lactate concentration

  -90 minute before exercise to 24 hours after a 30 minute exercise

Eligibility Criteria

• Age: 18 Years - 60 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Endocrinology Clinic

You may qualify if:

• Informed consent as documented by signature
• Confirmed biallelic mutation of cystathionine beta-synthase deficiency gene (homozygous or compound heterozygous) in an accredited Laboratory
• \- Healthy

You may not qualify if:

• 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)

Sponsors & Collaborators

• University of Lausanne: lead

Study Sites (2)

Département de physiologie

Lausanne, Canton of Vaud, 1005, Switzerland

Location

Lausanne University Hospitals

Lausanne, Canton of Vaud, 1011, Switzerland

Location

MeSH Terms

Conditions

Homocystinuria

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Hyperhomocysteinemia; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate physician

Study Record Dates

• First Submitted: July 9, 2019
• First Posted: July 16, 2019
• Study Start: July 1, 2019
• Primary Completion: April 30, 2020
• Study Completion: December 1, 2020
• Last Updated: March 30, 2021

Record last verified: 2021-02

Data Sharing

• IPD Sharing: Will not share

Locations

CH (2)