Scientists probe genetic clue to rare childhood lung disease

NCT ID NCT04811274

Summary

This study aimed to understand how a specific genetic mutation (in the MARS gene) causes a rare lung disease called pulmonary alveolar proteinosis (PAP) in children. Researchers compared immune cells from 20 children with and without this mutation to see if their cells could properly clear fatty material from the lungs. The goal was to learn the basic cause of the disease, not to test a new treatment.

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Contacts and locations

Locations

  • Hôpital Necker-Enfants Malades

    Paris, 75015, France

Conditions

Explore the condition pages connected to this study.