Assessment of Energy Metabolism in Metabolic Myopathies

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

Interventions

OTHER

12-week Physiotherapy Intervention

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.

DIETARY_SUPPLEMENT

13C-Glucose Breath Test

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™)

DIETARY_SUPPLEMENT

Doubly labelled water & urine test

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).

DIAGNOSTIC_TEST

Clinical Assessments - Exercise 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).

DIAGNOSTIC_TEST

Clinical Assessment - Muscle Content

Experiment 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 Assessment - Quality of Life

Experiment piece 3: Using a well-established clinical survey, PedsQL, once pre and post-intervention to assess for participants perception of quality of life.

Sponsors & Collaborators

• University of British Columbia

  lead OTHER

Principal Investigators

• Rajavel Elango, PhD · University of British Columbia

• Catherine Brunel, MD, FRCPS, FCCMG · Provincial Health Services Authority British Columbia

Study Design

Allocation

NON_RANDOMIZED

Purpose

BASIC_SCIENCE

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Min Age

10 Years

Max Age

18 Years

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2022-06-26

Primary Completion

2024-05-24

Completion

2025-10-08

Countries

• Canada

Study Locations