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Trial Title:
Frequency, Clinical Phenotype and Genetic Analysis of Heritable Kidney Cancer Syndromes
NCT ID:
NCT05534854
Condition:
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
Conditions: Official terms:
Carcinoma, Renal Cell
Kidney Neoplasms
Leiomyoma
Myofibroma
Birt-Hogg-Dube Syndrome
Von Hippel-Lindau Disease
Syndrome
Study type:
Observational
Overall status:
Recruiting
Study design:
Time perspective:
Prospective
Intervention:
Intervention type:
Genetic
Intervention name:
Gene test
Description:
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.
Arm group label:
Family members of heritable kidney cancer syndrome
Arm group label:
Not proven genetic etiology
Arm group label:
Patient with heritable kidney cancer syndrome
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.
Detailed 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.
Criteria for eligibility:
Study pop:
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.
Sampling method:
Non-Probability Sample
Criteria:
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.
Gender:
All
Minimum age:
2 Years
Maximum age:
N/A
Healthy volunteers:
Accepts Healthy Volunteers
Locations:
Facility:
Name:
Ethics Committee of Shanghai Renji Hospital
Address:
City:
Shanghai
Country:
China
Status:
Recruiting
Contact:
Last name:
Qi Lu
Phone:
+86021-68383364
Email:
rjllb3364@163.com
Start date:
October 1, 2022
Completion date:
August 1, 2025
Lead sponsor:
Agency:
RenJi Hospital
Agency class:
Other
Collaborator:
Agency:
Ruijin Hospital
Agency class:
Other
Collaborator:
Agency:
Shanghai Zhongshan Hospital
Agency class:
Other
Collaborator:
Agency:
Huashan Hospital
Agency class:
Other
Collaborator:
Agency:
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Agency class:
Other
Collaborator:
Agency:
Zhejiang Provincial People's Hospital
Agency class:
Other
Collaborator:
Agency:
Tongji Hospital
Agency class:
Other
Collaborator:
Agency:
Second Affiliated Hospital, School of Medicine, Zhejiang University
Agency class:
Other
Collaborator:
Agency:
Shanghai 10th People's Hospital
Agency class:
Other
Collaborator:
Agency:
First Affiliated Hospital, Sun Yat-Sen University
Agency class:
Other
Collaborator:
Agency:
Peking University First Hospital
Agency class:
Other
Source:
RenJi Hospital
Record processing date:
ClinicalTrials.gov processed this data on November 12, 2024
Source: ClinicalTrials.gov page:
https://clinicaltrials.gov/ct2/show/NCT05534854
