Scientists hunt for genetic clues in rare storage diseases

NCT ID NCT00001215

First seen Nov 01, 2025 · Last updated May 16, 2026 · Updated 25 times

Summary

This study aims to find genetic, biochemical, and clinical factors that affect how severe Gaucher disease and other lysosomal storage disorders become. Up to 1,000 participants, including patients, carriers, and healthy volunteers, will be evaluated yearly. The goal is to better understand these conditions and identify who might develop Parkinson disease.

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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

Locations

  • National Institutes of Health Clinical Center

    Bethesda, Maryland, 20892, United States

Conditions

Explore the condition pages connected to this study.