Scientists hunt for clues to track rare brain disease

NCT ID NCT00344331

First seen Nov 01, 2025 · Last updated May 15, 2026 · Updated 31 times

Summary

This study follows up to 900 people with Niemann-Pick disease type C (NPC), a rare genetic disorder that damages the nervous system. Researchers use blood tests, spinal taps, eye exams, and brain scans every six months to find markers that show how the disease progresses. The goal is to identify reliable ways to measure if future treatments are working.

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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

Conditions

Explore the condition pages connected to this study.