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

Last updated: April 29, 2024
Sponsor: Peking University First Hospital
Overall Status: Active - Recruiting

Phase

N/A

Condition

Cancer/tumors

Kidney Cancer

Renal Cell Carcinoma

Treatment

Single cell sequencing, whole genome and metabolomic sequencing

Clinical Study ID

NCT06391879
2023#395-002
  • Ages 18-80
  • All Genders

Study 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

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

Exclusion

Exclusion Criteria:

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

Study Design

Total Participants: 300
Treatment Group(s): 1
Primary Treatment: Single cell sequencing, whole genome and metabolomic sequencing
Phase:
Study Start date:
September 08, 2023
Estimated Completion Date:
August 31, 2025

Study Description

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). Previous small sample studies have confirmed that the natural course of VHL-related RCC is different from that of sporadic 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-related RCC. Therefore, there is an urgent need to establish a more effective and accurate prediction model for the natural course of VHL syndrome. 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 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 systematically analyze the specific molecular characteristic and evolution of VHL-related different from sporadic RCC, reveal new specific driving genes and their molecular regulatory mechanisms, and establish a multi-dimensional prediction model of natural course of VHL-related RCC based on accurate genotyping. It will provide scientific basis for accurate diagnosis and treatment of natural course of VHL-related RCC.

Connect with a study center

  • Peking University First Hospital

    Beijing, Beijing 100034
    China

    Active - Recruiting

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