Scientists scan brains to unlock secrets of rare mitochondrial disease

NCT ID NCT06890520

First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 2 times

Summary

This study uses MRI brain scans to measure chemicals like glutathione in people with primary mitochondrial disease, a genetic disorder that affects energy production and can damage the brain. Researchers will compare 30 participants with the disease to healthy volunteers to see if chemical imbalances are linked to the condition. The goal is to better understand the disease, not to test a new treatment.

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 help identify brain chemical changes that serve as markers for mitochondrial disease, potentially guiding future treatments.
What could go wrong
This is a small, early observational study with only 30 participants, so results may not apply broadly. It does not test any treatment, so no direct benefit is expected.

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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

Study contacts

  • Contact

    Email: •••••@•••••

Locations

  • The Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

    Contact Email: •••••@•••••

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