NCT06194669 Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells
| NCT ID | NCT06194669 |
| Status | Recruiting |
| Phase | — |
| Sponsor | IRCCS San Raffaele |
| Condition | Carcinoma, Renal Cell |
| Study Type | OBSERVATIONAL |
| Enrollment | 50 participants |
| Start Date | 2023-06-30 |
| Primary Completion | 2027-12-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 50 participants in total. It began in 2023-06-30 with a primary completion date of 2027-12-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 Criteria
Inclusion Criteria: * 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); Exclusion Criteria: * patients with bilateral nephrectomy, in dialysis or kidney transplant; use of nephrotoxic drugs
Contact & Investigator
Irene Franco, PhD
PRINCIPAL INVESTIGATOR
IRCCS Ospedale San Raffaele
Frequently Asked Questions
Who can join the NCT06194669 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying Carcinoma, Renal Cell. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06194669 currently recruiting?
Yes, NCT06194669 is actively recruiting participants. Contact the research team at franco.irene@hsr.it for enrollment information.
Where is the NCT06194669 trial being conducted?
This trial is being conducted at Milan, Italy.
Who is sponsoring the NCT06194669 clinical trial?
NCT06194669 is sponsored by IRCCS San Raffaele. The principal investigator is Irene Franco, PhD at IRCCS Ospedale San Raffaele. The trial plans to enroll 50 participants.