New study aims to crack the code of rare brain disease

NCT ID NCT05588167

First seen Jun 24, 2026 · Last updated Aug 14, 2026 · Updated 7 times

Summary

This study is creating the first large database for Niemann-Pick type C (NPC), a rare disease that damages the brain, liver, and spleen. Researchers will collect blood samples and medical records from 100 people with NPC to link their genes with their symptoms. The goal is to understand why the disease affects people so differently and to find clues for future treatments.

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 database could help researchers understand why NPC affects people differently and point toward new treatments.
What could go wrong
This is an observational study, not a treatment trial. It will not directly help participants and may not lead to any new therapies.

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

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

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