New study aims to unlock mysteries of rare brain disease

NCT ID NCT05588167

First seen Nov 01, 2025 · Last updated May 10, 2026 · Updated 28 times

Summary

This study is creating the first large database for Niemann-Pick type C (NPC), a rare disease that affects the brain, liver, and spleen. Researchers will collect a one-time blood sample and review medical records from 100 people with NPC of any age. The goal is to link genetic markers with symptoms to better understand why the disease varies so much from person to person.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.