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

NCT05534854 | Unknown

• 1 other identifier: RENJI-IKCS
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Renal Tumor Histology; Kidney Cancer; Renal Cell Carcinoma; Familial Renal Cancer; HLRCC; VHL Syndrome; BAP1 Tumor Predisposition Syndrome; FLCN Gene Mutation; ALK Gene Mutation; FH Gene Mutation; Birt-Hogg-Dube Syndrome; MET Gene Mutation; Cutaneous Leiomyoma; Cutaneous Leiomyomata With Uterine Leiomyomata

Outcome Measures

Primary Outcomes (2)

• Clinical phenotypes of patients of heritable kidney cancer syndromes

  Chart review of disease outcome

  5 years

• Genotypes of patients of heritable kidney cancer syndromes

  Genotyping for genetic variants that could modify the risk of cancer in subjects.

  5 years

Secondary Outcomes (2)

• Clinical phenotypes of family members of the patients

  5 years

• Prevalence of germline variants in the unselected general population of renal cancer patients

  5 years

Study Arms (3)

Patient with heritable kidney cancer syndrome

Patients with known or suspected heritable kidney cancer syndromes, including VHL and HLRCC Disease.

Genetic: Gene test

Family members of heritable kidney cancer syndrome

Family members (related by blood) of patients who have or are suspected of having heritable kidney cancer syndromes, including VHL and HLRCC Disease.

Genetic: Gene test

Not proven genetic etiology

Patients and biologic family members with a heritable kidney cancer syndrome of suspected, but not proven genetic etiology.

Genetic: Gene test

Interventions

Gene test GENETIC

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.

Family members of heritable kidney cancer syndrome; Not proven genetic etiology; Patient with heritable kidney cancer syndrome

Eligibility Criteria

• Age: 2 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with known or suspected heritable kidney cancer syndromes and their biologic family members with heritable kidney cancer syndromes will be recruited primarily from the urology, oncology, and genetics communities worldwide.

You may qualify if:

• 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).

You may not qualify if:

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

Sponsors & Collaborators

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

Study Sites (1)

Ethics Committee of Shanghai Renji Hospital

Shanghai, Shanghai Municipality, China

RECRUITING

MeSH Terms

Conditions

Kidney Neoplasms; Carcinoma, Renal Cell; von Hippel-Lindau Disease; Birt-Hogg-Dube Syndrome; Hereditary leiomyomatosis and renal cell cancer

Condition Hierarchy (Ancestors)

Urologic Neoplasms; Urogenital Neoplasms; Neoplasms by Site; Neoplasms; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Kidney Diseases; Urologic Diseases; Male Urogenital Diseases; Adenocarcinoma; Carcinoma; Neoplasms, Glandular and Epithelial; Neoplasms by Histologic Type; 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; Neoplastic Syndromes, Hereditary

Study Officials

• Jin Zhang

  RenJi Hospital

  STUDY CHAIR

Central Study Contacts

Yunze Xu, Ph.D.

CONTACT

+8618801967501; rjxuyunze@163.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 4, 2022
• First Posted: September 10, 2022
• Study Start: October 1, 2022
• Primary Completion: August 1, 2025
• Study Completion: August 1, 2025
• Last Updated: August 31, 2023

Record last verified: 2023-08

Locations

CN (1)