Analyzing genetic mutations in kidney cells of patients with Von Hippel-Lindau disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.