Effects of Exercise on Metabolic Parameters in Classical Homocystinuria

NCT ID: NCT04021732

Last Updated: 2021-03-30

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

12 participants

Study Classification

OBSERVATIONAL

Study Start Date

2019-07-01

Study Completion Date

2020-12-01

Brief Summary

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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

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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.

Conditions

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Homocystinuria

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

* 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


\- 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)
Minimum Eligible Age

18 Years

Maximum Eligible Age

60 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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University of Lausanne

OTHER

Sponsor Role lead

Responsible Party

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Christel Tran

Associate physician

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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Département de physiologie

Lausanne, Canton of Vaud, Switzerland

Site Status

Lausanne University Hospitals

Lausanne, Canton of Vaud, Switzerland

Site Status

Countries

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Switzerland

Other Identifiers

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2018-02400

Identifier Type: -

Identifier Source: org_study_id

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