Rare brain disease study seeks to unlock mysteries of atypical TPP1 deficiency

NCT ID NCT04098211

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study follows 5 people with a rare, late-onset form of TPP1 deficiency (a brain disease) to track how their symptoms change over time. Researchers will use tests like brain scans, eye exams, and movement assessments to better understand the condition. The goal is to gather information, not to test a treatment.

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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

  • Children's Hospital of Orange County

    Orange, California, 92868, United States

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Other studies related to the condition(s) this trial covers.