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

NCT06194669 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2024-01-10

No results posted yet for this study

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.

Conditions

  • Carcinoma, Renal Cell
  • Von Hippel-Lindau Disease

Interventions

OTHER

Blood 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

Sponsors & Collaborators

  • Università Vita-Salute San Raffaele

    collaborator OTHER

  • IRCCS San Raffaele

    lead OTHER

Principal Investigators

  • Irene Franco, PhD · IRCCS Ospedale San Raffaele

  • Alessandro Larcher, MD · IRCCS Ospedale San Raffaele

  • Andrea Salonia, MD · IRCCS Ospedale San Raffaele

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2023-06-30
Primary Completion
2027-12-31
Completion
2027-12-31

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 NCT06194669 on ClinicalTrials.gov