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.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

myoglobinuria, acute recurrent, autosomal recessive

As listed by the trial registrant

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

Contacts and locations

Locations

  • Hôpital Necker-Enfants Malades

    Paris, 75015, France