Scientists investigate why lung cells fail in rare genetic disease
NCT ID NCT04811274
First seen Nov 01, 2025 · Last updated Apr 30, 2026 · Updated 23 times
Summary
This study looked at a rare lung condition called pulmonary alveolar proteinosis (PAP) caused by changes in the MARS gene. Researchers wanted to understand why the lungs' cleaning cells (macrophages) don't work properly. They studied cells from 20 children with and without the MARS mutation to see how well they cleared fatty buildup. The goal was to learn more about the disease, not to test a new treatment.
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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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Locations
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Hôpital Necker-Enfants Malades
Paris, 75015, France
Conditions
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