CompletedNot Applicable

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

Italy10 participantsStarted 2025-01-22

Plain-language 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.

Who can participate

SexALL

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Inclusion Criteria: * Patients with ADPKD Exclusion Criteria: * Healthy patients

What they're measuring

Evidence of a deletion

Timeframe: At day 1

Genetic counseling

Timeframe: At day 1

Trial details

NCT IDNCT06594367

SponsorMario Negri Institute for Pharmacological Research

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2025-10-17

View on ClinicalTrials.gov More Autosomal Dominant Polycystic Kidney Disease (ADPKD) trials