Overtaking Intra and Inter Tumoral Heterogeneity In Von Hippel-Lindau Related Renal Cancer

NCT06195150 | Recruiting DMC

• 1 other identifier: PNRR-MR1-2022-12375818
• Study Type: observational
• Target: 3
• Locations: 1 country
• Sites: 1

Brief Summary

The goal of this study is to comprehensively map intra and inter tumor heterogeneity of ccRCC in VHL patients through the use of imaging, molecular biology and genomics techniques.

Conditions

Clear Cell Renal Cell Carcinoma; VHL Syndrome

Outcome Measures

Primary Outcomes (3)

• Integrating Imaging and multiregion biopsy sampling in VHL related ccRCC

  Pre-surgery imaging will be integrated using conventional multiparametric MRI with tumor histology of geographical predeterminated multi-region biopsies in each ccRCC of VHL patients.

  From month 3 to month 20

• Determine immune and stromal heterogeneity in VHL-ccRCC

  Multiplex immunohistochemistry, bulk and single cell RNA sequencing and somatic mutations analysis with pan-tumor histological assessment will be combined.

  DNAseq and bulk RNAseq will be carried out from month 7 until month 20. Multiplex immunohistochemistry (IHC) in multiregional biopsies and standard IHC on the whole tumors will be performed the last 12 months of the study.

• Generation and characterization of VHL-ccRCC patient-derived organoids

  A protocol to generate VHL-ccRCC-derived tumor organoids (patient-derived organoids, PDO) will be optimized to test anti tumor agents like HIF2alpha inhibitor in organoid cultures representative of intra- and inter-tumor heterogeneity.

  From month 3 until the end of the project.

Study Arms (1)

VHL patients

Patients with hereditary Von Hippel-Lindau (VHL) with genetic diagnosis of VHL disease who have at least three tumors larger than 3cm that have to be surgically removed. The procedure involves standard surgery with the additional collection of 15ml of blood.

Other: Blood collection

Interventions

Blood collection OTHER

15ml of blood are harvested before surgery

VHL patients

Eligibility Criteria

• Age: 18 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

VHL patients with at least 3 kidney tumors larger that 3cm to be surgically removed

You may qualify if:

• VHL syndrome
• Presence of at least 3 kidney tumors larger that 3cm to be surgically removed

You may not qualify if:

• Absence of VHL
• Quantity of kidney tumors \< 3
• Absence of surgery performance

Sponsors & Collaborators

• IRCCS San Raffaele: lead

Study Sites (1)

IRCCS Ospedale San Raffaele

Milan, MI, 20132, Italy

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Pan-tumor histological assessment through molecular and histopathological evaluation

MeSH Terms

Conditions

Carcinoma, Renal Cell; von Hippel-Lindau Disease

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Adenocarcinoma; Carcinoma; Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; Neoplasms; Kidney Neoplasms; Urologic Neoplasms; Urogenital Neoplasms; Neoplasms by Site; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Kidney Diseases; Urologic Diseases; Male Urogenital Diseases; Neurocutaneous Syndromes; Nervous System Diseases; Angiomatosis; Vascular Diseases; Cardiovascular Diseases; Ciliopathies; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Central Study Contacts

Umberto Capitanio, MD

CONTACT

3492503788; capitanio.umberto@hsr.it

Isaline Rowe, PhD

CONTACT

02 2643 7795; rowe.isaline@hsr.it

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Target Duration: 1 Day
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Head of the Kidney Tumor Research Unit

Study Record Dates

• First Submitted: December 22, 2023
• First Posted: January 8, 2024
• Study Start: November 8, 2023
• Primary Completion: October 31, 2025
• Study Completion: October 31, 2025
• Last Updated: May 1, 2025

Record last verified: 2025-03

Locations

IT (1)