Rare disease clues: new study aims to sharpen ASMD diagnosis

NCT ID NCT07274826

First seen Jan 08, 2026 · Last updated May 08, 2026 · Updated 20 times

Summary

This study looks at the symptoms and lab results of people with acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease, a rare genetic disorder. Researchers will track changes in spleen and liver size over 12 months to better understand how the disease progresses. The goal is to improve how doctors diagnose and monitor this condition.

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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

  • Sohag University Hospital

    Sohag, Egypt

Conditions

Explore the condition pages connected to this study.