Assessment of Energy Metabolism in Metabolic Myopathies

NCT07268287 | Completed

• 1 other identifier: H20-01177
• Study Type: interventional
• Target: 3
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Metabolic Myopathies

Outcome Measures

Primary Outcomes (1)

• 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

Secondary Outcomes (4)

• 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

Study Arms (6)

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.

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).

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.

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).

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).

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).

Diagnostic Test: Clinical Assessment - Quality of Life

Interventions

12-week Physiotherapy Intervention OTHER

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.

12-week Physiotherapy Intervention

13C-Glucose Breath Test DIETARY_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™)

13C-Glucose Breath Test

Doubly labelled water & urine test DIETARY_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).

Doubly Labelled Water & Urine Test

Clinical Assessments - Exercise Test DIAGNOSTIC_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 Assessments - Exercise Test

Clinical Assessment - Muscle Content DIAGNOSTIC_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 Assessments - Muscle Content

Clinical Assessment - Quality of Life DIAGNOSTIC_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.

Clinical Assessments - Quality of Life Questionnaire

Eligibility Criteria

• Age: 10 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of British Columbia: lead

Study Sites (1)

BC Children's Hospital Research Institute

Vancouver, British Columbia, V5Z 4H4, Canada

Location

MeSH Terms

Interventions

Urinalysis

Intervention Hierarchy (Ancestors)

Clinical Chemistry Tests; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Diagnostic Techniques, Urological; Investigative Techniques

Study Officials

• Rajavel Elango, PhD

  University of British Columbia

  PRINCIPAL INVESTIGATOR

• Catherine Brunel, MD, FRCPS, FCCMG

  Provincial Health Services Authority British Columbia

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: November 18, 2025
• First Posted: December 5, 2025
• Study Start: June 26, 2022
• Primary Completion: May 24, 2024
• Study Completion: October 8, 2025
• Last Updated: December 5, 2025

Record last verified: 2025-12

Locations

CA (1)