Actively Recruiting
Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells
Led by IRCCS San Raffaele · Updated on 2024-01-10
50
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
Sponsors
I
IRCCS San Raffaele
Lead Sponsor
U
Università Vita-Salute San Raffaele
Collaborating Sponsor
AI-Summary
What this Trial Is About
This research aims to understand somatic mutations in normal kidney cells of patients with Von Hippel Lindau (VHL) disease, a genetic condition that increases the risk of kidney cancer. The study compares mutation rates in kidney cells from VHL patients to those from individuals without the disease, seeking to discover if mutations accumulate more in VHL patients and what factors influence these changes. Participants will provide one blood sample and multiple urine samples annually for 3 to 5 years. The urine samples are used to isolate kidney tubule cells, which are then cultured and analyzed genetically. If participants undergo kidney tumor surgery, tissue samples from the tumor and nearby normal kidney will also be collected for genetic testing. The study includes two groups: VHL patients and control individuals without the disease. During the study, researchers will monitor mutation rates in kidney cells collected from urine over about three years, with a minimum of 3 months and up to 3 years of observation. They will also quantify pre-cancer cells in these samples. Sample collection aligns with patients' yearly hospital screenings. The study aims to better understand mutation patterns that may lead to tumor development in VHL disease.
CONDITIONS
Brief Title
Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Genetic diagnosis of Von Hippel Lindau disease
- Age between 25 and 65 years
- Both males and females should be equally represented
You will not qualify if you...
- Patients with both kidneys removed (bilateral nephrectomy)
- Patients currently on dialysis
- Patients with kidney transplant
- Use of nephrotoxic drugs (medications that can harm the kidneys)
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 3 months to 3 years
Participants provide blood and urine samples for analysis of somatic mutations and pre-cancer cells in kidney tubule cells.
Up to 6 visits depending on sample collection schedule
Duration - Up to 3 years
Participants are observed over time to assess the accumulation of somatic mutations and changes in kidney tubule cells.
Periodic assessments depending on individual schedules
Trial Site Locations
Total: 1 location
1
IRCCS Ospedale San Raffaele
Milan, Italy, 20132
Actively Recruiting
Research Team
I
Irene Franco, PhD
D
Daniela Canibus, BsC
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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