Bergamo gene clue: new mutation found in kidney disease patients

NCT ID NCT06594367

First seen Nov 01, 2025 · Last updated May 11, 2026 · Updated 24 times

Summary

This study examined 10 people with autosomal dominant polycystic kidney disease (ADPKD) to see if a specific missing piece in the PKD2 gene is shared among families in the Bergamo area. Researchers collected medical histories and DNA samples to understand how this gene change affects the disease. The goal was to learn more about the link between genetics and symptoms, not to test a treatment.

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Contacts and locations

Locations

  • Clinical Research Centre for Rare Diseases Aldo e Cele Daccò

    Ranica, BG, 24020, Italy

Conditions

Explore the condition pages connected to this study.