Establishment of a Multidimensional Prediction Model for the Natural Course of VHL Disease-related Renal Cell Carcinoma

NCT06391879 | Recruiting

• 1 other identifier: 2023#395-002
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

VHL syndrome is a rare hereditary tumor syndrome caused by mutation of tumor suppressor gene VHL. One of the most important clinical manifestations and main cause of death is VHL-related renal cell carcinoma (RCC). Facing the challenges of multilesion of both kidneys, slow progress and life-long repeated surgeries in VHL-related RCC, individualized prediction of the best surgical treatment time and reduction of times of surgeries are very important to improve the prognosis of patients with VHL syndrome. Therefore, there is an urgent need to establish a more effective and accurate prediction model for the natural course of VHL syndrome. This cohort-study aims to retrospectively and prospectively analyze the factors related to the natural course of VHL-related RCC. At the same time, some patients were selected for prospectively continuous molecular evolution dynamic monitoring after comprehensively considering the results of single cell sequencing, whole genome and metabonomic sequencing. This study will provide scientific basis for accurate diagnosis and treatment of natural course of VHL-related RCC.

Conditions

VHL Syndrome; Renal Cell Carcinoma

Keywords

VHL; VHL syndrome; Renal cell carcinoma

Outcome Measures

Primary Outcomes (1)

• Tumor growth rate

  The tumor size was measured annually and the tumor growth rate was calculated.

  From date of diagnosis of the VHL-related RCC until the date of surgical treatment, death from any cause or the date of last follow-up, whichever came first, assessed up to 60 years.

Secondary Outcomes (2)

• Overall survival (OS)

  From date of diagnosis of the VHL-related RCC until the date of death from any cause or the date of last follow-up, whichever came first, assessed up to 20 years.

• Cancer-specific survival (CSS)

  From date of diagnosis of the VHL-related RCC until the date of death from the same disease or the date of last follow-up, whichever came first, assessed up to 20 years.

Study Arms (1)

VHL-related RCC cohort

This cohort incorporates subjects with VHL-related renal cell carcinoma.

Genetic: Single cell sequencing, whole genome and metabolomic sequencing

Interventions

Single cell sequencing, whole genome and metabolomic sequencing GENETIC

The blood specimen of subjects in this cohort would be collected to conduct single cell sequencing, whole genome and metabolomic sequencing.

VHL-related RCC cohort

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Based on the previous establishment of the largest biobank of VHL syndrome in Asia, as well as the unique characteristics and genotype-phenotypic relationship of patients in Chinese population, this cohort-study aims to retrospectively and prospectively incorporated patients with VHL-related RCC.

You may qualify if:

• Diagnosis of VHL syndrome based on clinical diagnostic criteria or genetic test results of syndrome
• Upon enrollment, multiple organ assessments for VHL syndrome should be completed, including fundus examination, CT/MR examination of the brain, spinal cord, and abdominal and pelvic organs.
• If subjects have undergone surgery for renal tumors, the follow-up observation time in each branch center before surgery should be more than 12 months, and imaging examinations should be performed at least once every 6 months.

You may not qualify if:

• Do not meet the clinical diagnostic criteria for VHL disease or the genetic test is negative
• Other hereditary RCC syndromes

Sponsors & Collaborators

• Peking University First Hospital: lead

Study Sites (1)

Peking University First Hospital

Beijing, Beijing Municipality, 100034, China

RECRUITING

MeSH Terms

Conditions

von Hippel-Lindau Disease; Carcinoma, Renal Cell

Condition Hierarchy (Ancestors)

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; 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

Study Officials

• Kan Gong

  Peking University First Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Kan Gong

CONTACT

(86)-010-83572075; kan.gong@bjmu.edu.cn

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Chief physician

Study Record Dates

• First Submitted: April 25, 2024
• First Posted: April 30, 2024
• Study Start: September 8, 2023
• Primary Completion: June 30, 2025
• Study Completion: August 31, 2025
• Last Updated: April 30, 2024

Record last verified: 2024-04

Locations

CN (1)