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

Renal Cell Carcinoma Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT05534854
• Other study ID #: RENJI-IKCS
• Status: Recruiting
• Start date: October 1, 2022
• Est. completion date: August 1, 2025

Study information

• Verified date: August 2023
• Source: RenJi Hospital
• Contact: Yunze Xu, Ph.D.
• Phone: +8618801967501
• Email: rjxuyunze[@]163.com
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 500
• Est. completion date: August 1, 2025
• Est. primary completion date: August 1, 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 2 Years and older

Eligibility

Inclusion Criteria:

• Participants must be greater than or equal to 2 years of age. All patients and guardians (for children younger than 18 years of age) must sign an informed consent document indicating their understanding of the investigational nature and the risks of this study before any protocol related studies are performed. Patients under the age of 18 but who are age 13 or older will be asked to sign an assent document prior to participation.

• Individuals and biologic family members with a suspected or an established diagnosis of a heritable kidney cancer syndrome in which the disease gene is known, including von Hippel-Lindau (VHL) and hereditary papillary renal carcinoma (HPRC).

• Individuals and biologic family members with a suspected or an established diagnosis of 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 renal carcinoma, renal oncocytoma, chromophobe renal carcinoma or Birt Hogg Dube.

• Individuals and biologic family members who have heritable kidney cancer syndromes of suspected, but not proven genetic etiology, including families with more than one individual affected by the same or related cancers.

• Subject Enrollment Categories (to include both affected and unaffected biologic relatives).

Exclusion Criteria:

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

Related Conditions & MeSH terms

• ALK Gene Mutation
• BAP1 Tumor Predisposition Syndrome
• Birt-Hogg-Dube Syndrome
• Carcinoma, Renal Cell
• Cutaneous Leiomyoma
• HLRCC
• Kidney Cancer
• Kidney Neoplasms
• Leiomyoma
• MET Gene Mutation
• Renal Cell Carcinoma
• Renal Tumor Histology
• Syndrome
• VHL Syndrome
• Von Hippel-Lindau Disease

Intervention

Genetic:
• Gene test
Next generation sequencing of blood, urine and/or benign and malignant tissue of patients and family members with known or suspected heritable kidney cancer syndromes, including VHL and HLRCC Disease.

Locations

Country	Name	City	State
China	Ethics Committee of Shanghai Renji Hospital	Shanghai	Shanghai

Sponsors (11)

Lead Sponsor	Collaborator
RenJi Hospital	First Affiliated Hospital, Sun Yat-Sen University, Huashan Hospital, Peking University First Hospital, Ruijin Hospital, Second Affiliated Hospital, School of Medicine, Zhejiang University, Shanghai 10th People's Hospital, Shanghai Zhongshan Hospital, Tongji Hospital, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Zhejiang Provincial People's Hospital

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Clinical phenotypes of patients of heritable kidney cancer syndromes	Chart review of disease outcome	5 years
Primary	Genotypes of patients of heritable kidney cancer syndromes	Genotyping for genetic variants that could modify the risk of cancer in subjects.	5 years
Secondary	Clinical phenotypes of family members of the patients	Questionnaire and chart review of the clinical phenotype	5 years
Secondary	Prevalence of germline variants in the unselected general population of renal cancer patients	Frequency of germline pathogenic/likely pathogenic variants in renal cancer	5 years