Scientists observe mitochondrial mutation carriers to unlock disease secrets

NCT ID NCT01532791

First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study follows 300 people who carry a specific mitochondrial DNA mutation (m.3243A>G) that can cause symptoms like migraines, seizures, and hearing loss. Researchers will use brain scans, muscle tests, and cognitive assessments to track how the disease progresses over time. No treatment is given; the goal is to gather information that may help develop future therapies.

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 study could help doctors better understand mitochondrial diseases and pave the way for future treatments.
What could go wrong
This is an observational study with no treatment, so it will not directly improve symptoms. It may take years to yield useful results.

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

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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

  • Columbia University

    RECRUITING

    New York, New York, 10032, United States