Massive study tracks 1,000 patients to unlock secrets of rare genetic diseases
NCT ID NCT00001215
Summary
This study aims to better understand Gaucher disease and related lysosomal storage disorders by observing how symptoms and genetics vary among 1,000 patients over many years. Researchers will track participants annually to identify factors linked to disease severity and explore the connection between these disorders and Parkinson's disease. The goal is to gather detailed knowledge to help guide future treatments and counseling for patients and families.
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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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