Pompe disease study peers into the brain for hidden clues

NCT ID NCT04639336

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

Summary

This study aims to learn how Pompe disease affects the brain and nerves over the long term. Researchers will use brain scans, thinking and language tests, and muscle checks in 45 people with Pompe disease. Participants will be followed for 3 to 6 years. No new treatment is being tested; the goal is to gather knowledge to improve future care.

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 reveal how Pompe disease affects the brain and nerves over time, guiding future care and monitoring.
What could go wrong
This is an observational study, not a treatment trial. It may not lead to direct medical changes, and results depend on a small group of 45 participants.

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Conditions

The condition(s) this trial relates to.

glycogen storage disease II Glycogen Storage Disease Type II

As listed by the trial registrant

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

Contacts and locations

Locations

  • Duke University Medical Center

    RECRUITING

    Durham, North Carolina, 27710, United States

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