HomocystinuriaNCT04021732
Effects of Exercise on Metabolic Parameters in Classical Homocystinuria
An observational study of Homocystinuria, run by University of Lausanne at 2 sites in Switzerland.
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. Read more about this study
- Who is it for?
- Ages 18 to 60 yearsHealthy volunteers can take part
- Conditions the study is for
- Homocystinuria
- How many people
- 12 participants
- Where
- 2 sitesSwitzerland
- Study dates
- 1 Jul 2019to 1 Dec 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 60 years
- All sexes
- Healthy volunteers accepted
- Adult
Study population: Endocrinology Clinic
Who may be able to join
- 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
Who cannot join
- 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)
Trial locations and contacts
2 sites in 1 country.
Switzerland2 sites
Département de physiologie
Lausanne, Canton of Vaud, 1005
Lausanne University Hospitals
Lausanne, Canton of Vaud, 1011
About this study
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.
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.
Read the 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.
- Conditions
- Homocystinuria
- Medical subject headings
- Homocystinuria
What is being measured
The primary outcome is the main question the study is designed to answer.
Plasma homocysteine concentration
Change in homocysteine concentration after a 30 minute exercise at fixed wattage
Measured: -90 minutes before exercise to 24 hours after a 30 minute exercise
Secondary outcomes (10)
Dietary parameters
self-reporting daily food diary
Measured: During 3 days before and on the day of the exercise (day 1)
Indirect calorimetry
Energy expenditure
Measured: -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
Measured: -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
Measured: -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
Measured: -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
Measured: -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
Measured: -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
Measured: -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
Measured: -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
Measured: -90 min before exercise to 24 hours after a 30 minute exercise
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Jul 2019
- Study start1 Jul 2019
- Primary completion30 Apr 2020
- Study completion1 Dec 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for HomocystinuriaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 12 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Lausanne
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Christel Tran, University of Lausanne
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04021732
- Sponsor's protocol ID
- 2018-02400
- Other IDs
- 2018
- Status last verified
- Feb 2021
- First submitted
- 9 Jul 2019
- Last updated
- 30 Mar 2021
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Mar 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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.
- ClinicalTrials.gov ID
- NCT04021732
- Acronym / sponsor ID
- 2018-02400
- Conditions
- Homocystinuria
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 12 participants (actual)
- Lead sponsor
- University of LausanneUniversity, hospital or other
- Study start
- 1 Jul 2019 (actual)
- Primary completion
- 30 Apr 2020 (actual)
- Study completion
- 1 Dec 2020 (actual)
- First posted
- 16 Jul 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 to 60 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult
- Study population
- Endocrinology Clinic
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (5 listed)
- 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)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Plasma homocysteine concentration
Time frame: -90 minutes before exercise to 24 hours after a 30 minute exercise
Change in homocysteine concentration after a 30 minute exercise at fixed wattage
10 secondary outcomes
Dietary parameters
Time frame: During 3 days before and on the day of the exercise (day 1)
Indirect calorimetry
Time frame: -90 minutes before exercise to the end of exercise (+30 minutes)
Plasma amino acid profile
Time frame: -90 minutes before exercise to 24hours after a 30 minute exercise
Plasma Insulin concentration
Time frame: -90 minutes before exercise to 24 hours after a 30 minute exercise
Plasma lactate concentration
Time frame: -90 minute before exercise to 24 hours after a 30 minute exercise
Plasma glucagon concentration
Time frame: -90 minute before exercise to 24 hours after a 30 minute exercise
Plasma free fatty acids concentration
Time frame: -90 minute before exercise to 24 hours after a 30 minute exercise
Plasma ketone bodies concentration
Time frame: -90 minute before exercise to 24 hours after a 30 minute exercise
Plasma cortisol concentration
Time frame: -90 minute before exercise to 24 hours after a 30 minute exercise
Blood pressure
Time frame: -90 min before exercise to 24 hours after a 30 minute exercise
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Mar 2021.
- Individual participant dataSharing planned: No
Related trials for Homocystinuria
RecruitingObservational study
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
Inherited Disease, Rare Diseases
RecruitingPhase 3
Pegtibatinase as a Treatment for Participants With Classical Homocystinuria (HCU) Receiving Standard of Care Treatment
Homocystinuria
RecruitingPhase 1/2
Pegtibatinase as a Treatment for Patients With Classical Homocystinuria (HCU) (Also Known as the COMPOSE Study)
Homocystinuria
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
Spinal Muscular Atrophy, Fragile X Syndrome
Enrolling by invitationPhase 3
A Long-term Extension Study to Assess the Long-term Safety and Efficacy of Pegtibatinase Treatment in Participants ≥5 to ≤65 Years of Age With Classical Homocystinuria (HCU) (ENSEMBLE)
Homocystinuria
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Homocystinuria, run by University of Lausanne at 2 sites in Switzerland.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 30 Mar 2021. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Switzerland. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Plasma homocysteine concentration (time frame: -90 minutes before exercise to 24 hours after a 30 minute exercise). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Mar 2021.