NCT06194669Recruiting
Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells
Source: ClinicalTrials.gov · Last updated 10 Jan 2024 · Not updated for over 12 months - ask the site whether it is still open
Brief summary (registry, in English)
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.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 50 (estimated)
- First submitted
- 22 Dec 2023
- Start date
- Jun 2023
- Primary completion date
- Dec 2027
- Lead sponsor
- IRCCS San Raffaele
- Diseases
- Kidney cancer
- NCT number
- NCT06194669
What you commit to
- Study type: Observational
- Planned participants: 50
- From Jun 2023 to the primary completion date, Dec 2027
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- patients with bilateral nephrectomy, in dialysis or kidney transplant; use of nephrotoxic drugs
Who the study is looking for
- 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);
Age in the registry: 18 years to - · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| IRCCS Ospedale San Raffaele Coordinator of this site? Confirm its status | Milan | Italy | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.