Exercise test could revolutionize monitoring of rare metabolic muscle disease
NCT ID NCT03802279
First seen Jun 26, 2026 · Last updated Jun 26, 2026
Summary
This study looked at whether an exercise test can be used to monitor patients with a rare hereditary disease that causes severe muscle breakdown (rhabdomyolysis). Researchers measured heart function and oxygen use during exercise in 27 patients. The goal was to find a reliable way to track disease severity and treatment effects in future clinical trials.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could provide a simple, non-invasive way to monitor disease severity and treatment response in patients with rhabdomyolysis due to hereditary metabolic disorders.
- What could go wrong
- This is a small, completed observational study with only 27 participants. It does not test a treatment, so it may not directly lead to new therapies. The effort test may not be feasible for all patients.
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Study facts
What this study's own registry entry says, in plain language.
- Participants
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27 people
The number who actually took part.
- Started
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Oct 2019
- Finished
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Dec 2021
- Lead sponsor
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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.
Who is studied
The population to be studied consists of 40 patients with metabolic rhabdomyolyses followed by the centre of reference for metabolic diseases of the child and adult of the Necker Hospital.
- Ages
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6 to 75 years
- Sex
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Anyone
- Healthy volunteers
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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 Hide 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.
subjects with metabolic rhabdomyolysis related to a hereditary metabolic disease : Inclusion Criteria: * pathology characterized on the biochemical and molecular level * patients who can make an effort test * patients who benefited from a diagnostically targeted muscle biopsy with backup of myoblasts (group 1) * patients who have benefited from a diagnostically targeted muscle biopsy but whose myoblasts are not available (group 2) Exclusion Criteria * inability or refusal of compliance to the requirements of the research * patients with contraindications for the effort test in particular heart failure and acute rhabdomyolysis * Patients without biochemical and/or molecular diagnosis Criteria for inclusion of witness patients : * holders of parental authority and/or patients not opposed to the use of their cardio-respiratory analysis results for this study or to the use of their myoblasts for this study * normal cardio-respiratory analysis results * normal myoblasts (group 4).
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Hôpital Necker-Enfants Malades
Paris, 75015, France