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.
Sponsor study identifier
interventional
3
1 country
1
Study Start
June 26, 2022
Actual (reported)Primary Completion
May 24, 2024
Actual (reported)Study Completion
October 8, 2025
Actual (reported)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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
October 8, 2025
Actual (reported)Click on a node to explore related trials.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
June 26, 2022
Actual (reported)May 24, 2024
Actual (reported)October 8, 2025
Actual (reported)November 18, 2025
Actual (reported)December 5, 2025
Actual (reported)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).
4 Hours
Doubly Labeled Water Free-living Total Energy Expenditure
14 Days
Clinical Assessments - Exercise Test
1-2 Hours
Clinical Assessments - Muscle Content
1 Hour
Clinical Assessments - Quality of Life
30 minutes
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.
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).
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.
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™)
BC Children's Hospital Research Institute
Vancouver, British Columbia, V5Z 4H4, Canada
Rajavel Elango, PhD
University of British Columbia
Catherine Brunel, MD, FRCPS, FCCMG
Provincial Health Services Authority British Columbia
3 participants (actual enrollment reported by the registry).
First Submitted
November 18, 2025
First Posted
December 5, 2025
Study Start
June 26, 2022
Actual (reported)Performed once by all participants, in between the pre- and post-intervention experiments described in the other arms.
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).
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).
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).
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).
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).
Experiment piece 3: Using a well-established clinical method, DXA, once pre and post-intervention to assess for body muscle content (lean muscle mass)
Experiment piece 3: Using a well-established clinical survey, PedsQL, once pre and post-intervention to assess for participants perception of quality of life.
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Primary Completion
May 24, 2024
Actual (reported)Study Completion
October 8, 2025
Actual (reported)Last Updated
December 5, 2025
Record last verified: 2025-12
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