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
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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.