Scientists investigate genetic mysteries behind rare disease
NCT ID NCT07485413
Summary
This study aims to better understand how specific genetic changes affect Wolfram syndrome, a rare inherited disorder. Researchers are examining 45 participants who have genetic mutations associated with the condition, focusing on detailed eye scans. The goal is to determine which genetic changes actually cause disease symptoms versus those that may be harmless.
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Contacts and locations
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Locations
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HEGP
Paris, 75015, France
Conditions
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