Rare disease study pulled before starting: scientists sought clues in cell stress

NCT ID NCT05514470

First seen Nov 01, 2025 · Last updated Jun 09, 2026 · Updated 38 times

Summary

This study was planned to learn how certain rare genetic mutations disrupt protein production and cause severe diseases affecting the lungs, liver, brain, and digestion. Researchers would have used cells from patients to measure protein levels and stress responses. However, the study was withdrawn before enrolling any participants, so no results are available.

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Contacts and locations

Locations

  • Hôpital Necker-Enfants Malades

    Paris, 75015, France

Conditions

Explore the condition pages connected to this study.