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

Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: f
View:

• Genetic diagnosis of VHL-disease; age (data need to be collected from a population distributed between 25 and 65 years); gender (males and females should be equally represented);

Locations
Other Locations
Italy
IRCCS Ospedale San Raffaele
RECRUITING
Milan
Contact Information
Primary
Irene Franco, PhD
franco.irene@hsr.it
+39 02 2643 2357
Backup
Daniela Canibus, BsC
canibus.daniela@hsr.it
+39 02 2643 5628
Time Frame
Start Date: 2023-06-30
Estimated Completion Date: 2027-12-31
Participants
Target number of participants: 50
Treatments
Controls
Healthy volunteers; patients referring to San Raffaele Hospital for renal/urological conditions other than VHL
VHL-disease patients
Individuals with genetic diagnosis of Von Hippel Lindau disease
Sponsors
Collaborators: Università Vita-Salute San Raffaele
Leads: IRCCS San Raffaele

This content was sourced from clinicaltrials.gov