Status:

ACTIVE_NOT_RECRUITING

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

Lead Sponsor:

Mario Negri Institute for Pharmacological Research

Conditions:

Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Eligibility:

All Genders

Brief 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 disea...

Detailed Description

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited disease of the kidney. It occurs in adulthood but is also rarely diagnosed in early childhood. The majority of the dis...

Eligibility Criteria

Inclusion

  • Patients with ADPKD

Exclusion

  • Healthy patients

Key Trial Info

Start Date :

October 12 2024

Trial Type :

OBSERVATIONAL

Allocation :

ESTIMATED

End Date :

October 1 2025

Estimated Enrollment :

10 Patients enrolled

Trial Details

Trial ID

NCT06594367

Start Date

October 12 2024

End Date

October 1 2025

Last Update

September 29 2025

Active Locations (1)

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Page 1 of 1 (1 locations)

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Clinical Research Centre for Rare Diseases Aldo e Cele Daccò

Ranica, BG, Italy, 24020