Analyzing genetic mutations in kidney cells of patients with Von Hippel-Lindau disease
Mechanisms of Somatic Mutation and Tumor Initiation in Pre-malignant Kidney Tubule Cells
This study looks at whether kidney cells from people with Von Hippel-Lindau disease have more genetic changes compared to those without the condition.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | IRCCS San Raffaele Academic / other |
| Locations | 1 site (Milan) |
| Trial ID | NCT06194669 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate somatic mutations in normal kidney cells from patients with Von Hippel-Lindau (VHL) disease and compare them to individuals without the condition. Participants will provide blood and urine samples, which will be used for isolating kidney cells and conducting genetic analyses over a period of 3-5 years. The study seeks to determine whether kidney cells from VHL patients exhibit higher mutation rates and to explore the mechanisms that contribute to these mutations.
Who should consider this trial
Good fit: Ideal candidates for this study are individuals aged 25 to 65 with a genetic diagnosis of Von Hippel-Lindau disease.
Not a fit: Patients who have undergone bilateral nephrectomy, are on dialysis, or have received a kidney transplant will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could enhance understanding of kidney cancer predisposition and lead to improved monitoring and prevention strategies for patients with VHL disease.
How similar studies have performed: While studies on somatic mutations in cancer are common, this specific focus on VHL-related kidney cells is relatively novel and may provide new insights.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Milan
- IRCCS Ospedale San Raffaele — Milan, Italy (Recruiting)
Study contacts
- Principal investigator: Irene Franco, PhD — IRCCS Ospedale San Raffaele
- Study coordinator: Irene Franco, PhD
- Email: franco.irene@hsr.it
- Phone: +39 02 2643 2357
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.