RecruitingNCT06194669

Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells


Sponsor

IRCCS San Raffaele

Enrollment

50 participants

Start Date

Jun 30, 2023

Study Type

OBSERVATIONAL

Conditions

Summary

The goal of this observational study is to analyze somatic mutations in the genome of normal kidney cells from patients affected by kidney cancer predisposition syndrome Von Hippel Lindau (VHL) and compare the mutation rates observed in these patients and in individuals not affected by the disease. The main questions the study aims to answer are: * Do kidney cells from VHL patients mutate more than cells from control individuals during adult life? * What mechanisms favor somatic mutation occurrence in the genome of normal kidney tubule cells? Participants will donate one blood sample and multiple urine samples. Urines will be used for kidney cell isolation, followed by cell culturing and genetic analyses. Urine samples will be collected once a year for 3-5 years. Sample collection will occur during the yearly screening program that each patient undergoes at the hospital. In case patients undergo surgical treatment of kidney tumors, samples discarded from surgery (tumor and normal kidney adjacent to tumor) will be collected and subjected to genetic analyses. Researchers will compare the number and types of mutations found in tumors and normal kidney cells from VHL-disease patients with those found in normal kidney cells from control individuals, to see if somatic mutation rates are increased in VHL-disease patients during aging.


Eligibility

Min Age: 18 Years

Plain Language Summary

Simplified for easier understanding

This study is examining the kidney cells of people with von Hippel-Lindau (VHL) disease — a rare hereditary condition that increases risk for kidney cancer — to understand how mutations accumulate in kidney cells before a tumor forms. **You may be eligible if...** - You have a confirmed genetic diagnosis of VHL disease - You are between approximately 25 and 65 years old **You may NOT be eligible if...** - You have had both kidneys removed (bilateral nephrectomy) - You are on dialysis or have received a kidney transplant - You are taking nephrotoxic drugs (medications that damage the kidneys) Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

OTHERBlood and urine sample collection

One whole blood sample per individual (3 ml) will be collected. Up to 5 urine samples per individual will be collected


Locations(1)

IRCCS Ospedale San Raffaele

Milan, Italy

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NCT06194669


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