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A Possible Founding PKD2 Mutation Associated With Variable Phenotypes of ADPKD in Bergamo Province

NCT06594367 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 10

Last updated 2026-03-23

No results posted yet for this study

Summary

This is an observational study aimed at assessing if a new and specific heterozygous deletion detected at PKD2 gene is associated to a "founder effect" in 10 Autosomal dominant polycystic kidney disease (ADPKD) patients, and at investigating the genotype-phenotype correlation in the families sharing the same PKD2 breakpoint site.

Conditions

  • Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Sponsors & Collaborators

  • Mario Negri Institute for Pharmacological Research

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-01-22
Primary Completion
2025-10-17
Completion
2025-10-31

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06594367 on ClinicalTrials.gov