Metabolic MyopathiesNCT07268287
Assessment of Energy Metabolism in Metabolic Myopathies
A study testing 12-week Physiotherapy Intervention, 13C-Glucose Breath Test and Doubly labelled water & urine test in people with Metabolic Myopathies, run by University of British Columbia at 1 site in Canada.
Trial summary
Patients with metabolic myopathies suffer from exercise intolerance due to impaired ability to produce energy and secondary de-conditioning. There is a lack of methods enabling a non-invasive assessment of muscle energy production and studies regarding the benefits of therapeutic interventions are lacking as well. Read more about this study
- Who is it for?
- Ages 10 to 18 years
- Conditions the study is for
- Metabolic Myopathies
- What is being tested?
- 12-week Physiotherapy Intervention, 13C-Glucose Breath Test and Doubly labelled water & urine test
- Type of treatment
- Pill or oral medicine
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 3 participants
- Where
- 1 siteCanada
- Study dates
- 26 Jun 2022to 8 Oct 2025
- Phase
- Interventional
- 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 10 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- Confirmed diagnosis of the following: Mitochondrial Metabolic Myopathy (mMM), Fatty Acid Oxidation Disorder (FAOD), Pompe disease, or muscle Glycogen Storage Disease (GSD) (McArdle) via demonstration of deficient enzyme activity and / or demonstration of molecular testing confirming respective pathogenic variants and or compatible with disease phenotype.
- Age ≥10 years up to 18 years.
- Any gender.
- No past history of rhabdomyolysis requiring hospitalization.
- No signs or symptoms of infectious disease at least 14 days prior to the commencement of study visit (to mitigate the risk of rhabdomyolysis and coronavirus transmission).
- Participant must speak/understand English.
- Participant must have a smart phone or a tablet with a provider plan or that can be linked to Wi-Fi.
- Participant must have the time to commit to 11 visits at BC Children's Hospital over 21 weeks.
Who cannot join
- Any concurrent disorders / conditions that would interfere with /impact the study procedure (breath test and/or low intensity exercise).
- Diabetes Mellitus type I or II.
- Abnormal Cardiac assessment: cardiomyopathy or arrhythmia not allowing physical exercise.
Trial locations and contacts
1 site in 1 country.
Canada1 site
BC Children's Hospital Research Institute
Vancouver, British Columbia, V5Z 4H4
About this study
Official title: Establishment of a Platform for the in Vivo Assessment of Therapies to Treat Metabolic Myopathies, Using Biomarkers and Stable Isotope Tracers to Evaluate Energy Metabolism: A First Step Towards Monitoring the Effectiveness of Innovative Therapies.
Patients with metabolic myopathies suffer from exercise intolerance due to impaired ability to produce energy and secondary de-conditioning. There is a lack of methods enabling a non-invasive assessment of muscle energy production and studies regarding the benefits of therapeutic interventions are lacking as well. In this pilot study, the main aim is to assess the benefit of an intervention: a regular at home physiotherapy program for metabolic myopathies by measuring different outcomes pre and post therapeutic intervention using minimally invasive tests. The secondary aim of this study: investigators plan to describe the results of established non-invasive stable isotope tracer tests, namely, "glucose breath test" and "doubly labelled water \& urine test" in patients pre and post 12 weeks at-home physiotherapy exercise program. The results of this study will be used for a larger scale study to assess energy metabolism in patients in patients with metabolic myopathies using non-invasive tests like breath and urine tests.
Read the detailed description
Metabolic myopathies are a group of genetic conditions which affect the production of energy in the muscle and are caused by muscle adenosine triphosphate (ATP) depletion. This group includes disorders of mitochondrial oxidative phosphorylation (mitochondrial myopathies, MM), fatty acid oxidation (FAOD), Pompe disease and generation of glycolytic substrates (muscle glycogenosis, GSDs) from muscle glycogen. At large, these disorders are amenable to treatment including exercise and dietary treatment and/or vitamins cofactors supplementation.
There is a lack of non-invasive biomarkers which could be used to monitor treatment effectiveness. Traditionally, maximal oxygen consumption (VO2 max), quality of life questionnaire, dual-energy x-ray absorptiometry (DXA/DEXA), muscle biopsies, blood lactate and creatine kinase are used as a surrogate biomarker but have a limited validity to assess response to therapeutic interventions in patients with myopathies. The ultimate goal is to established a platform for clinical trials using minimally invasive tests to evaluate energy metabolism in patients with metabolic myopathies in response to therapeutic interventions, such as physiotherapy exercise program. These minimally invasive tests could be used to develop a platform for clinical trials for patients with muscle disease.
The main aim (objective) of this study is to assess the benefit of an intervention: a 12 weeks at-home physiotherapy exercises program for metabolic myopathies by measuring different outcomes pre and post therapeutic intervention using minimally-invasive tests. The investigators will administer a 12-week at-home physiotherapy exercises program to 3 metabolic myopathies pediatric patients between age 10 and 18 years.
The following outcomes will be measured pre and post intervention:
- Glucose breath test: glucose oxidation (in mg/kg/min) measured by 13C glucose oxidation.
- Doubly labelled water \& urine test: assess free-living total energy expenditure (in kcal).
- Exercise test: VO2 max (in ml/kg/min).
- Muscle content test: Muscle mass (in grams) measured by DXA.
- Quality of life questionnaire test: Quality of life measure by PedsQL.
The secondary aim (objective) of this study is to show that a glucose breath test measuring glucose oxidation (in mg/kg/min) and a doubly labelled water \& urine test measuring total energy expenditure (in kcal) are outcomes that can be used in clinical trials to evaluate therapeutic interventions, along VO2 max, DXA and quality of life questionnaires. In that regard, this is a proof-of-concept study with the aim to describe the two biomarkers results in response to a therapeutic intervention in comparison to VO2-max and DXA scan and quality of life and clinical questionnaire in 3 participants.
The study design is n of 1 and will compare results of the tests pre and post therapeutic interventions in the same patients.
The glucose breath test: for the glucose oxidation (in mg/kg/min) measured by 13C glucose oxidation, results will be plotted as repeated measurements (3 times pre and post-intervention) for each individual participant. Repeat measurements will reduce the intra-individual variability. A 12 weeks at-home physiotherapy exercise protocol has been developed by the investigator team physician and kinesiologists experienced with exercise, children and metabolic myopathies. The therapeutic intervention, a 12 weeks at-home physiotherapy exercises program performed at least 5 times per week, under virtual supervision 3 times per week by a kinesiologist, contains the same type of exercises that are normally prescribed to this population on a clinical basis. All patients will perform the same program to reduce inter-variability.
In parallel, clinical methods such as VO2max, PedsQL and DXA will be measured pre- (baseline) and post-intervention evaluation. The investigators consulted a BCCHRI statistician with regard to the data analysis. Statistical analysis will include the intra-individual data analysis (n=1 study design) and will compare - using a Paired T test -the pre- and post- intervention data obtained from the two stable isotope tracer methods, VO2 max, DXA and quality of life questionnaires. The results of these tests will also be descriptively analyzed and the pre and post-intervention results will be plotted graphically.
The results of this proof of concept study will inform a larger scale project that was initially planned.
- Conditions
- Metabolic Myopathies
- Being tested
- 12-week Physiotherapy Intervention, 13C-Glucose Breath Test, Doubly labelled water & urine test, Clinical Assessments - Exercise Test, Clinical Assessment - Muscle Content
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
12-week Physiotherapy InterventionOther
A 12 week at-home physiotherapy exercises program performed at least 5 times per week, under virtual supervision 3 times per week by a kinesiologist, contains the same type of exercises that are normally prescribed to this population on a clinical basis. All patients will perform the same program to reduce inter-variability.
13C-Glucose Breath TestDietary supplement
Experiment piece 1:
Oral glucose isotope is administered to fasted participants on pre and post-intervention study days. Breath is collected over a 4-hour period following ingestion.
Other Names:
- D-glucose (Thermo Scientific™ NERL™ Trutol™)
Doubly labelled water & urine testDietary supplement
Experiment piece 2:
1 study day pre and post-intervention fasted participants ingest a single oral dose of doubly labelled water (2H218O) isotope. 4 urine samples are collected over a 4 hour period following isotope administration, and once a day over 14 days.
DLW is a safe and minimally invasive technique, considered the gold standard for precise measurement energy expenditure in humans. It involves enriching the body water with heavy hydrogen and oxygen (2H218O). The method is based on the principle that the 2H2 derived from body water is eliminated only as water (2H2O), while 18O is eliminated as both water (H2 18O) and carbon dioxide (C18O2).
Clinical Assessments - Exercise TestDiagnostic test
Experiment piece 3: Using a well-established clinical method VO2 max, once pre and post-intervention to assess for body composition (oxygen consumption during exercise).
Clinical Assessment - Muscle ContentDiagnostic test
Experiment piece 3: Using a well-established clinical method, DXA, once pre and post-intervention to assess for body muscle content (lean muscle mass)
Clinical Assessment - Quality of LifeDiagnostic test
Experiment piece 3: Using a well-established clinical survey, PedsQL, once pre and post-intervention to assess for participants perception of quality of life.
| Study group | Role | What they receive |
|---|---|---|
| 13C-Glucose Breath Test | Experimental | Experiment piece 1:
3 study days (pre-physio intervention) - single oral dose of unlabeled glucose and U-13C-glucose isotope.
3 study days (post-physio intervention) - single oral dose of unlabeled glucose and U-13C-glucose isotope. Both in mg/kg/min. Receives: Dietary Supplement: 13C-Glucose Breath Test |
| Doubly Labelled Water & Urine Test | Experimental | Experiment piece 2:
1 study day (pre-physio intervention) - single oral dose of doubly labelled water (2H218O) isotope.
1 study days (post-physio intervention) - single oral dose of doubly labelled water (2H218O) isotope. Assess free-living total energy expenditure (in kcal). Receives: Dietary Supplement: Doubly labelled water & urine test |
| 12-week Physiotherapy Intervention | Experimental | Performed once by all participants, in between the pre- and post-intervention experiments described in the other arms. Receives: Other: 12-week Physiotherapy Intervention |
| Clinical Assessments - Exercise Test | Experimental | Experiment piece 3:
1 study day (pre-intervention) and 1 study day (post-intervention).
Exercise test: Maximum oxygen consumption (VO2 max) (in ml/kg/min). Receives: Diagnostic Test: Clinical Assessments - Exercise Test |
| Clinical Assessments - Muscle Content | Experimental | Experiment piece 3:
1 study day (pre-intervention) and 1 study day (post-intervention).
Muscle content test: Muscle mass measured by Dual-Energy X-ray Absorptiometry (DXA/DEXA) (in grams). Receives: Diagnostic Test: Clinical Assessment - Muscle Content |
| Clinical Assessments - Quality of Life Questionnaire | Experimental | Experiment piece 3:
1 study day (pre-intervention) and 1 study day (post-intervention).
Quality of life questionnaire test: Quality of life measure by pediatric quality of life questionnaire (PedsQL). Receives: Diagnostic Test: Clinical Assessment - Quality of Life |
What is being measured
The primary outcome is the main question the study is designed to answer.
Glucose Oxidation
Breath samples will be collected during the 3 pre and post-intervention study days to measure the rate of oxidation of 13C glucose (mg/kg/min).
Measured: 4 Hours
Secondary outcomes (4)
Doubly Labeled Water Free-living Total Energy Expenditure
Energy expenditure can be calculated by measuring the difference in elimination rates of the heavy hydrogen and heavy oxygen in urine. The elimination rate is assessed from urine collected at the beginning and end of the observation period (~ 2 weeks). The 18O and 2H concentrations in urine are measured using isotope ratio mass spectrometry (IRMS). Assessed once pre- and post-intervention for free-living total energy expenditure (in kcal).
Measured: 14 Days
Clinical Assessments - Exercise Test
Exercise test: Maximal Oxygen Consumption (VO2 max) (ml/kg/min) during monitored exercise. Assessed once pre- and post-intervention.
Measured: 1-2 Hours
Clinical Assessments - Muscle Content
Muscle content test: Lean muscle mass measured by Dual-Energy X-ray Absorptiometry (DXA/DEXA) (grams). Assessed once pre- and post-intervention.
Measured: 1 Hour
Clinical Assessments - Quality of Life
Quality of life questionnaire test: Quality of life measure by the pediatric quality of life questionnaire (PedsQL) to assess for participants perceived mental, physical and emotional health. Assessed once pre- and post-intervention.
Measured: 30 minutes
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Dec 2025
- Study start26 Jun 2022
- Primary completion24 May 2024
- Study completion8 Oct 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Metabolic MyopathiesStudies of the same condition, open and under way.
- More trials run by University of British ColumbiaThe sponsor's other registered studies.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 3 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of British Columbia
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Rajavel Elango, PhD, University of British Columbia
- Investigators
- Rajavel Elango, PhD, Principal investigator, University of British ColumbiaCatherine Brunel, MD, FRCPS, FCCMG, Principal investigator, Provincial Health Services Authority British Columbia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07268287
- Sponsor's protocol ID
- H20-01177
- Status last verified
- Dec 2025
- First submitted
- 18 Nov 2025
- Last updated
- 5 Dec 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 5 Dec 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Establishment of a Platform for the in Vivo Assessment of Therapies to Treat Metabolic Myopathies, Using Biomarkers and Stable Isotope Tracers to Evaluate Energy Metabolism: A First Step Towards Monitoring the Effectiveness of Innovative Therapies.
- ClinicalTrials.gov ID
- NCT07268287
- Acronym / sponsor ID
- H20-01177
- Conditions
- Metabolic Myopathies
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 3 participants (actual)
- Lead sponsor
- University of British ColumbiaUniversity, hospital or other
- Study start
- 26 Jun 2022 (actual)
- Primary completion
- 24 May 2024 (actual)
- Study completion
- 8 Oct 2025 (actual)
- First posted
- 5 Dec 2025 (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.
Patients with metabolic myopathies suffer from exercise intolerance due to impaired ability to produce energy and secondary de-conditioning. There is a lack of methods enabling a non-invasive assessment of muscle energy production and studies regarding the benefits of therapeutic interventions are lacking as well. In this pilot study, the main aim is to assess the benefit of an intervention: a regular at home physiotherapy program for metabolic myopathies by measuring different outcomes pre and post therapeutic intervention using minimally invasive tests. The secondary aim of this study: investigators plan to describe the results of established non-invasive stable isotope tracer tests, namely, "glucose breath test" and "doubly labelled water \& urine test" in patients pre and post 12 weeks at-home physiotherapy exercise program. The results of this study will be used for a larger scale study to assess energy metabolism in patients in patients with metabolic myopathies using non-invasive tests like breath and urine tests.
Detailed description
Metabolic myopathies are a group of genetic conditions which affect the production of energy in the muscle and are caused by muscle adenosine triphosphate (ATP) depletion. This group includes disorders of mitochondrial oxidative phosphorylation (mitochondrial myopathies, MM), fatty acid oxidation (FAOD), Pompe disease and generation of glycolytic substrates (muscle glycogenosis, GSDs) from muscle glycogen. At large, these disorders are amenable to treatment including exercise and dietary treatment and/or vitamins cofactors supplementation.
There is a lack of non-invasive biomarkers which could be used to monitor treatment effectiveness. Traditionally, maximal oxygen consumption (VO2 max), quality of life questionnaire, dual-energy x-ray absorptiometry (DXA/DEXA), muscle biopsies, blood lactate and creatine kinase are used as a surrogate biomarker but have a limited validity to assess response to therapeutic interventions in patients with myopathies. The ultimate goal is to established a platform for clinical trials using minimally invasive tests to evaluate energy metabolism in patients with metabolic myopathies in response to therapeutic interventions, such as physiotherapy exercise program. These minimally invasive tests could be used to develop a platform for clinical trials for patients with muscle disease.
The main aim (objective) of this study is to assess the benefit of an intervention: a 12 weeks at-home physiotherapy exercises program for metabolic myopathies by measuring different outcomes pre and post therapeutic intervention using minimally-invasive tests. The investigators will administer a 12-week at-home physiotherapy exercises program to 3 metabolic myopathies pediatric patients between age 10 and 18 years.
The following outcomes will be measured pre and post intervention:
- Glucose breath test: glucose oxidation (in mg/kg/min) measured by 13C glucose oxidation.
- Doubly labelled water \& urine test: assess free-living total energy expenditure (in kcal).
- Exercise test: VO2 max (in ml/kg/min).
- Muscle content test: Muscle mass (in grams) measured by DXA.
- Quality of life questionnaire test: Quality of life measure by PedsQL.
The secondary aim (objective) of this study is to show that a glucose breath test measuring glucose oxidation (in mg/kg/min) and a doubly labelled water \& urine test measuring total energy expenditure (in kcal) are outcomes that can be used in clinical trials to evaluate therapeutic interventions, along VO2 max, DXA and quality of life questionnaires. In that regard, this is a proof-of-concept study with the aim to describe the two biomarkers results in response to a therapeutic intervention in comparison to VO2-max and DXA scan and quality of life and clinical questionnaire in 3 participants.
The study design is n of 1 and will compare results of the tests pre and post therapeutic interventions in the same patients.
The glucose breath test: for the glucose oxidation (in mg/kg/min) measured by 13C glucose oxidation, results will be plotted as repeated measurements (3 times pre and post-intervention) for each individual participant. Repeat measurements will reduce the intra-individual variability. A 12 weeks at-home physiotherapy exercise protocol has been developed by the investigator team physician and kinesiologists experienced with exercise, children and metabolic myopathies. The therapeutic intervention, a 12 weeks at-home physiotherapy exercises program performed at least 5 times per week, under virtual supervision 3 times per week by a kinesiologist, contains the same type of exercises that are normally prescribed to this population on a clinical basis. All patients will perform the same program to reduce inter-variability.
In parallel, clinical methods such as VO2max, PedsQL and DXA will be measured pre- (baseline) and post-intervention evaluation. The investigators consulted a BCCHRI statistician with regard to the data analysis. Statistical analysis will include the intra-individual data analysis (n=1 study design) and will compare - using a Paired T test -the pre- and post- intervention data obtained from the two stable isotope tracer methods, VO2 max, DXA and quality of life questionnaires. The results of these tests will also be descriptively analyzed and the pre and post-intervention results will be plotted graphically.
The results of this proof of concept study will inform a larger scale project that was initially planned.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| 13C-Glucose Breath Test | Experimental | Dietary Supplement: 13C-Glucose Breath TestExperiment piece 1: 3 study days (pre-physio intervention) - single oral dose of unlabeled glucose and U-13C-glucose isotope. 3 study days (post-physio intervention) - single oral dose of unlabeled glucose and U-13C-glucose isotope. Both in mg/kg/min. |
| Doubly Labelled Water & Urine Test | Experimental | Dietary Supplement: Doubly labelled water & urine testExperiment piece 2: 1 study day (pre-physio intervention) - single oral dose of doubly labelled water (2H218O) isotope. 1 study days (post-physio intervention) - single oral dose of doubly labelled water (2H218O) isotope. Assess free-living total energy expenditure (in kcal). |
| 12-week Physiotherapy Intervention | Experimental | Other: 12-week Physiotherapy InterventionPerformed once by all participants, in between the pre- and post-intervention experiments described in the other arms. |
| Clinical Assessments - Exercise Test | Experimental | Diagnostic Test: Clinical Assessments - Exercise TestExperiment piece 3: 1 study day (pre-intervention) and 1 study day (post-intervention). Exercise test: Maximum oxygen consumption (VO2 max) (in ml/kg/min). |
| Clinical Assessments - Muscle Content | Experimental | Diagnostic Test: Clinical Assessment - Muscle ContentExperiment piece 3: 1 study day (pre-intervention) and 1 study day (post-intervention). Muscle content test: Muscle mass measured by Dual-Energy X-ray Absorptiometry (DXA/DEXA) (in grams). |
| Clinical Assessments - Quality of Life Questionnaire | Experimental | Diagnostic Test: Clinical Assessment - Quality of LifeExperiment piece 3: 1 study day (pre-intervention) and 1 study day (post-intervention). Quality of life questionnaire test: Quality of life measure by pediatric quality of life questionnaire (PedsQL). |
Who may qualify
- Ages
- 10 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (8 listed)
- Confirmed diagnosis of the following: Mitochondrial Metabolic Myopathy (mMM), Fatty Acid Oxidation Disorder (FAOD), Pompe disease, or muscle Glycogen Storage Disease (GSD) (McArdle) via demonstration of deficient enzyme activity and / or demonstration of molecular testing confirming respective pathogenic variants and or compatible with disease phenotype.
- Age ≥10 years up to 18 years.
- Any gender.
- No past history of rhabdomyolysis requiring hospitalization.
- No signs or symptoms of infectious disease at least 14 days prior to the commencement of study visit (to mitigate the risk of rhabdomyolysis and coronavirus transmission).
Key exclusion criteria (3 listed)
- Any concurrent disorders / conditions that would interfere with /impact the study procedure (breath test and/or low intensity exercise).
- Diabetes Mellitus type I or II.
- Abnormal Cardiac assessment: cardiomyopathy or arrhythmia not allowing physical exercise.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| 12-week Physiotherapy InterventionA 12 week at-home physiotherapy exercises program performed at least 5 times per week, under virtual supervision 3 times per week by a kinesiologist, contains the same type of exercises that are normally prescribed to this population on a clinical basis. All patients will perform the same program to reduce inter-variability. | Other | 12-week Physiotherapy Intervention |
| 13C-Glucose Breath TestExperiment piece 1: Oral glucose isotope is administered to fasted participants on pre and post-intervention study days. Breath is collected over a 4-hour period following ingestion. Other Names: • D-glucose (Thermo Scientific™ NERL™ Trutol™) | Dietary supplement | 13C-Glucose Breath Test |
| Doubly labelled water & urine testExperiment piece 2: 1 study day pre and post-intervention fasted participants ingest a single oral dose of doubly labelled water (2H218O) isotope. 4 urine samples are collected over a 4 hour period following isotope administration, and once a day over 14 days. DLW is a safe and minimally invasive technique, considered the gold standard for precise measurement energy expenditure in humans. It involves enriching the body water with heavy hydrogen and oxygen (2H218O). The method is based on the principle that the 2H2 derived from body water is eliminated only as water (2H2O), while 18O is eliminated as both water (H2 18O) and carbon dioxide (C18O2). | Dietary supplement | Doubly Labelled Water & Urine Test |
| Clinical Assessments - Exercise TestExperiment piece 3: Using a well-established clinical method VO2 max, once pre and post-intervention to assess for body composition (oxygen consumption during exercise). | Diagnostic test | Clinical Assessments - Exercise Test |
| Clinical Assessment - Muscle ContentExperiment piece 3: Using a well-established clinical method, DXA, once pre and post-intervention to assess for body muscle content (lean muscle mass) | Diagnostic test | Clinical Assessments - Muscle Content |
| Clinical Assessment - Quality of LifeExperiment piece 3: Using a well-established clinical survey, PedsQL, once pre and post-intervention to assess for participants perception of quality of life. | Diagnostic test | Clinical Assessments - Quality of Life Questionnaire |
Primary outcome
Glucose Oxidation
Time frame: 4 Hours
Breath samples will be collected during the 3 pre and post-intervention study days to measure the rate of oxidation of 13C glucose (mg/kg/min).
4 secondary outcomes
Doubly Labeled Water Free-living Total Energy Expenditure
Time frame: 14 Days
Clinical Assessments - Exercise Test
Time frame: 1-2 Hours
Clinical Assessments - Muscle Content
Time frame: 1 Hour
Clinical Assessments - Quality of Life
Time frame: 30 minutes
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 5 Dec 2025.
- Individual participant dataSharing planned: Undecided
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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.
Rajavel Elango, PhD principal investigator
University of British Columbia
Catherine Brunel, MD, FRCPS, FCCMG principal investigator
Provincial Health Services Authority British Columbia
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing 12-week Physiotherapy Intervention, 13C-Glucose Breath Test and Doubly labelled water & urine test in people with Metabolic Myopathies, run by University of British Columbia at 1 site in Canada.
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 8 inclusion and 3 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 5 Dec 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Canada. 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?
Glucose Oxidation (time frame: 4 Hours). 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 5 Dec 2025.