ACID SPHINGOMYELINASE DEFICIENCY
Clinical trials for ACID SPHINGOMYELINASE DEFICIENCY explained in plain language.
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Blood test aims to solve mystery of unexplained enlarged spleens
Diagnosis CompletedThis study aimed to find better ways to diagnose two rare genetic diseases, Gaucher disease and ASMD, in people with an enlarged spleen of unknown cause. Researchers enrolled 122 adult patients who had an unexplained enlarged spleen or had their spleen removed without a clear dia…
Matched conditions: ACID SPHINGOMYELINASE DEFICIENCY
Sponsor: Fundación Española de Hematología y Hemoterapía • Aim: Diagnosis
Last updated Apr 01, 2026 14:43 UTC
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Searching for rare disease clues in kids with enlarged spleens
Knowledge-focused CompletedThis study aimed to find out how often children with an enlarged spleen of unknown cause might have rare diseases like Gaucher disease. Researchers observed 60 children under 18 who had an enlarged spleen that couldn't be explained by common conditions. The goal was to gather inf…
Matched conditions: ACID SPHINGOMYELINASE DEFICIENCY
Sponsor: Sanofi • Aim: Knowledge-focused
Last updated Mar 16, 2026 15:24 UTC