Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes

Last updated: August 29, 2023
Sponsor: RenJi Hospital
Overall Status: Active - Recruiting

Phase

N/A

Condition

Renal Cell Carcinoma

Kidney Cancer

Desmoid Tumors

Treatment

Gene test

Clinical Study ID

NCT05534854
RENJI-IKCS
  • Ages > 2
  • All Genders
  • Accepts Healthy Volunteers

Study Summary

This study will investigate the frequency, clinical phenotype, management and molecular genetic defects of heritable kidney cancer syndromes. Families with kidney cancer with known or suspected genetic basis will be enrolled. Affected individuals or individuals suspected of having a germline kidney cancer will undergo periodic clinical assessment and genetic analyses for the purpose of: 1) definition and characterization of phenotype, 2) determination of the natural history of the disorder, and 3) genotype/phenotype correlation. Genetic linkage studies may be performed in situations in which the genetic basis of the disorder has not been elucidated. This research will have a significant impact on the overall management of heritable kidney cancer syndromes patients and family members who are at risk for heritable kidney cancer syndromes. The study will ultimately facilitate the development of novel screening, prevention and treatment strategies for these individuals with the syndrome. In addition this study could have impact on the management of patients with personal and/or family history of heritable kidney cancer syndromes.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • Participants must be greater than or equal to 2 years of age. All patients andguardians (for children younger than 18 years of age) must sign an informed consentdocument indicating their understanding of the investigational nature and the risks ofthis study before any protocol related studies are performed. Patients under the ageof 18 but who are age 13 or older will be asked to sign an assent document prior toparticipation.
  • Individuals and biologic family members with a suspected or an established diagnosisof a heritable kidney cancer syndrome in which the disease gene is known, includingvon Hippel-Lindau (VHL) and hereditary papillary renal carcinoma (HPRC).
  • Individuals and biologic family members with a suspected or an established diagnosisof a heritable kidney cancer syndrome in which the disease gene is not yet known,specifically hereditary forms of Type II papillary renal cancer, clear cell renalcarcinoma, renal oncocytoma, chromophobe renal carcinoma or Birt Hogg Dube.
  • Individuals and biologic family members who have heritable kidney cancer syndromes ofsuspected, but not proven genetic etiology, including families with more than oneindividual affected by the same or related cancers.
  • Subject Enrollment Categories (to include both affected and unaffected biologicrelatives).

Exclusion

Exclusion Criteria:

  • Pregnant women are excluded from enrollment onto this study because there is no directbenefit for participating in the study.

Study Design

Total Participants: 500
Treatment Group(s): 1
Primary Treatment: Gene test
Phase:
Study Start date:
October 01, 2022
Estimated Completion Date:
August 01, 2025

Study Description

Background:

• The genetic etiology of heritable kidney cancer syndromes remains to be determined.

Objectives:

  • Define the risk of developing renal cance in heritable kidney cancer syndromes

  • Define the types and characteristics (including patterns of growth) of heritable kidney cancer syndromes.

  • Determine genotype/phenotype correlations.

  • To characterize the natural and clinical histories of heritable kidney cancer syndromes.

  • To determine the genetic etiology of heritable kidney cancer syndromes.

Design:

  • These rare families will be recruited to genetically confirm diagnosis, determine size and location of renal tumors, size at presentation, growth rate and metastatic potential of renal tumors.

  • Genetic testing will be offered to gain appreciation of the effect of mutations on the relative activity of various germline and somatic mutations.

  • To determine if there is a relationship between mutation and disease manifestations and phenotype.

Connect with a study center

  • Ethics Committee of Shanghai Renji Hospital

    Shanghai, Shanghai
    China

    Active - Recruiting

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