Gene hunt: unlocking the secrets of rare diseases
NCT ID NCT00001215
First seen Nov 01, 2025 · Last updated May 21, 2026 · Updated 26 times
Summary
This study aims to identify genetic, biochemical, and clinical factors linked to disease severity in people with Gaucher disease and other lysosomal storage disorders. Up to 1,000 participants, including patients, carriers, and healthy volunteers, will be evaluated annually. The goal is to better understand these conditions and find predictors for Parkinsonism in at-risk individuals.
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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.
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
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Locations
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National Institutes of Health Clinical Center
Bethesda, Maryland, 20892, United States
Conditions
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