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Can a breath test reveal how muscles make energy? tiny study explores new way to track treatment effects

NCT ID NCT07268287

Knowledge-focused Sponsor: University of British Columbia Source: ClinicalTrials.gov ↗

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Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed This study
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This small pilot study looked at whether simple breath and urine tests can measure how well muscles produce energy in children with metabolic myopathies (rare muscle disorders). Three participants completed a 12-week at-home physiotherapy program. The goal was to see if these non-invasive tests could detect changes in energy metabolism before and after exercise therapy. The results will help design larger studies to monitor future treatments.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Phase

Not a phased trial

Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.

Participants

3 people

The number who actually took part.

Started

Jun 2022

Finished

Oct 2025

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Ages

10 to 18 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * 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. Exclusion Criteria: * 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.

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Conditions

The condition(s) this trial relates to.

glycogen storage disease II glycogen storage disease V inborn mitochondrial myopathy inherited fatty acid metabolism disorder metabolic myopathy

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Metabolic myopathies

Contacts and locations

Locations

  • BC Children's Hospital Research Institute

    Vancouver, British Columbia, V5Z 4H4, Canada

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